Mutagenetix > Incidental Mutation

Incidental Mutation 'R1199:Ush2a'

101160

Institutional Source

Beutler Lab

Gene Symbol

Ush2a

Ensembl Gene

ENSMUSG00000026609

Gene Name

usherin

Synonyms

MUSH2A, LOC269160, LOC381317, Ushrn, Ush2a, A930037M10Rik, A930011D15Rik

MMRRC Submission

039269-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.521) question?

Stock #

R1199 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

187995035-188697694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 188491992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 3094 (V3094I)

Ref Sequence

ENSEMBL: ENSMUSP00000050454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060479]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000060479
AA Change: V3094I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000050454
Gene: ENSMUSG00000026609
AA Change: V3094I

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:Laminin_G_3	128	283	6.5e-16	PFAM
LamNT	310	513	6.79e-9	SMART
EGF_Lam	515	569	1.58e-3	SMART
EGF_Lam	572	635	5.69e-10	SMART
EGF_Lam	638	688	4.38e-11	SMART
EGF_Lam	691	741	3.56e-11	SMART
EGF_Lam	744	789	7.93e-9	SMART
EGF_Lam	792	841	3.37e-12	SMART
EGF_Lam	844	894	2.01e-10	SMART
EGF_Lam	897	945	5.43e-16	SMART
EGF_Lam	948	996	7.88e-4	SMART
EGF_Lam	999	1047	2.96e-8	SMART
FN3	1051	1130	1e-1	SMART
FN3	1145	1224	2.06e-3	SMART
FN3	1239	1342	8.69e-11	SMART
FN3	1356	1447	5.32e-6	SMART
FN3	1461	1570	2.63e1	SMART
LamG	1531	1672	5.39e-19	SMART
LamG	1727	1862	2.33e-23	SMART
FN3	1861	1931	9.15e1	SMART
FN3	1945	2032	2.24e-4	SMART
FN3	2047	2120	1.13e0	SMART
FN3	2134	2218	3.4e-4	SMART
FN3	2232	2306	1.59e-4	SMART
FN3	2320	2412	1.12e-4	SMART
FN3	2423	2510	8.9e-8	SMART
FN3	2524	2600	1.95e-4	SMART
FN3	2612	2701	4.67e-2	SMART
FN3	2715	2792	1.17e-7	SMART
FN3	2809	2902	1.12e-4	SMART
FN3	2913	2997	5.36e-2	SMART
FN3	3011	3089	2.46e-1	SMART
FN3	3101	3477	2.85e1	SMART
FN3	3491	3568	4e-1	SMART
FN3	3582	3659	5.87e-8	SMART
FN3	3673	3750	1.75e-6	SMART
FN3	3764	3845	9.62e-4	SMART
FN3	3859	3943	2.41e-4	SMART
FN3	3954	4044	5.11e-8	SMART
FN3	4058	4133	1.06e0	SMART
FN3	4147	4241	7.87e-9	SMART
FN3	4255	4334	1.15e-1	SMART
FN3	4348	4422	6.39e-9	SMART
FN3	4435	4510	6.91e-5	SMART
FN3	4521	4610	2.28e-5	SMART
FN3	4626	4713	1.71e0	SMART
FN3	4724	4805	1.3e0	SMART
FN3	4817	4909	3.62e-8	SMART
transmembrane domain	5032	5054	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122601

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

96% (55/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	T	9: 108,270,676 (GRCm39)	H80L	possibly damaging	Het
A1bg	A	T	15: 60,791,484 (GRCm39)		probably null	Het
Aco2	C	T	15: 81,779,394 (GRCm39)	S33L	probably damaging	Het
Agrn	T	A	4: 156,256,756 (GRCm39)	Y1283F	probably benign	Het
Akap6	T	C	12: 52,842,973 (GRCm39)	V107A	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Btnl9	A	T	11: 49,071,574 (GRCm39)	V83E	probably damaging	Het
Camk2a	T	A	18: 61,085,396 (GRCm39)	C131*	probably null	Het
Ccdc14	C	T	16: 34,544,198 (GRCm39)	T852M	probably damaging	Het
Cntn4	T	C	6: 106,330,558 (GRCm39)		probably benign	Het
Cp	T	G	3: 20,031,316 (GRCm39)	S585R	probably damaging	Het
Cpt1b	G	A	15: 89,303,213 (GRCm39)	A614V	probably benign	Het
Crygn	T	C	5: 24,956,146 (GRCm39)	Y153C	probably damaging	Het
Dennd1a	A	T	2: 37,851,728 (GRCm39)	D53E	probably damaging	Het
Deptor	T	C	15: 55,115,406 (GRCm39)	C357R	probably benign	Het
Dnajc28	C	A	16: 91,415,530 (GRCm39)		probably benign	Het
Eml6	G	A	11: 29,705,044 (GRCm39)	A1500V	possibly damaging	Het
Fgd5	T	A	6: 91,963,959 (GRCm39)	L64Q	possibly damaging	Het
Fgfbp1	A	G	5: 44,136,939 (GRCm39)	Y118H	probably damaging	Het
Ftcd	G	A	10: 76,415,653 (GRCm39)	R135H	probably damaging	Het
Gm5174	A	T	10: 86,493,189 (GRCm39)		noncoding transcript	Het
Gpr37l1	A	T	1: 135,094,710 (GRCm39)	L178Q	probably damaging	Het
Gtf2ird1	A	G	5: 134,439,918 (GRCm39)	V104A	possibly damaging	Het
Irs1	T	A	1: 82,267,347 (GRCm39)	S290C	probably damaging	Het
Kel	C	T	6: 41,665,525 (GRCm39)	V532I	possibly damaging	Het
Kif1c	A	G	11: 70,599,427 (GRCm39)	E442G	possibly damaging	Het
Klhdc10	T	A	6: 30,449,493 (GRCm39)	V185D	probably damaging	Het
Lpp	C	T	16: 24,500,610 (GRCm39)	R141C	probably damaging	Het
Or52a5	A	T	7: 103,427,192 (GRCm39)	M120K	probably damaging	Het
Or5m13	A	G	2: 85,748,379 (GRCm39)	I37V	probably benign	Het
Pcnx2	G	T	8: 126,614,053 (GRCm39)	P466H	possibly damaging	Het
Pcsk1	A	T	13: 75,244,532 (GRCm39)		probably benign	Het
Pkd2l2	T	C	18: 34,571,269 (GRCm39)		probably null	Het
Pomt1	A	G	2: 32,140,504 (GRCm39)	N454S	probably benign	Het
Samhd1	A	T	2: 156,951,381 (GRCm39)	I452N	probably damaging	Het
Sez6	A	G	11: 77,844,711 (GRCm39)	Q178R	probably benign	Het
Slc25a44	A	G	3: 88,328,293 (GRCm39)	V66A	probably damaging	Het
Slc46a2	T	C	4: 59,914,189 (GRCm39)	T245A	probably benign	Het
Slc4a4	G	A	5: 89,363,653 (GRCm39)		probably null	Het
Spata6	T	A	4: 111,656,342 (GRCm39)	C329S	possibly damaging	Het
Srrm2	A	T	17: 24,036,725 (GRCm39)		probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Svil	T	A	18: 5,059,217 (GRCm39)		probably benign	Het
Tenm3	G	T	8: 48,688,617 (GRCm39)	S2323R	probably damaging	Het
Tsc1	G	A	2: 28,555,638 (GRCm39)	R245Q	probably damaging	Het
Ttn	A	G	2: 76,739,100 (GRCm39)	V3813A	probably benign	Het
Ttn	G	A	2: 76,780,388 (GRCm39)	T1121M	possibly damaging	Het
Vcan	A	G	13: 89,827,913 (GRCm39)		probably null	Het
Vmn1r189	A	T	13: 22,286,828 (GRCm39)	L3Q	probably damaging	Het
Vmn1r60	A	C	7: 5,547,971 (GRCm39)	V43G	probably damaging	Het
Vmn2r110	A	G	17: 20,803,525 (GRCm39)	I350T	probably benign	Het
Vmn2r86	T	A	10: 130,284,443 (GRCm39)		probably benign	Het
Xrn1	A	G	9: 95,863,814 (GRCm39)		probably benign	Het
Zfp251	C	T	15: 76,738,436 (GRCm39)	R219Q	possibly damaging	Het

Other mutations in Ush2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ush2a	APN	1	188,596,875 (GRCm39)	missense	probably benign	0.00
IGL00391:Ush2a	APN	1	188,648,258 (GRCm39)	missense	probably damaging	1.00
IGL00429:Ush2a	APN	1	188,132,311 (GRCm39)	nonsense	probably null
IGL00484:Ush2a	APN	1	188,514,710 (GRCm39)	missense	probably benign	0.00
IGL00519:Ush2a	APN	1	188,176,865 (GRCm39)	missense	probably benign	0.03
IGL00567:Ush2a	APN	1	188,697,114 (GRCm39)	missense	probably damaging	1.00
IGL00823:Ush2a	APN	1	188,643,640 (GRCm39)	missense	possibly damaging	0.61
IGL00940:Ush2a	APN	1	188,090,158 (GRCm39)	nonsense	probably null
IGL00951:Ush2a	APN	1	187,995,662 (GRCm39)	missense	probably benign	0.33
IGL00956:Ush2a	APN	1	188,485,719 (GRCm39)	missense	probably damaging	0.99
IGL01096:Ush2a	APN	1	188,410,574 (GRCm39)	missense	probably damaging	1.00
IGL01108:Ush2a	APN	1	188,595,022 (GRCm39)	missense	probably benign	0.00
IGL01315:Ush2a	APN	1	188,365,811 (GRCm39)	missense	possibly damaging	0.51
IGL01318:Ush2a	APN	1	188,546,550 (GRCm39)	missense	probably benign	0.00
IGL01324:Ush2a	APN	1	188,581,189 (GRCm39)	missense	probably benign	0.38
IGL01326:Ush2a	APN	1	187,995,518 (GRCm39)	nonsense	probably null
IGL01384:Ush2a	APN	1	188,285,425 (GRCm39)	missense	possibly damaging	0.65
IGL01466:Ush2a	APN	1	188,643,819 (GRCm39)	missense	probably benign	0.00
IGL01518:Ush2a	APN	1	188,131,982 (GRCm39)	missense	probably benign	0.01
IGL01585:Ush2a	APN	1	188,162,924 (GRCm39)	missense	probably damaging	1.00
IGL01595:Ush2a	APN	1	188,386,921 (GRCm39)	critical splice donor site	probably null
IGL01657:Ush2a	APN	1	188,558,658 (GRCm39)	missense	probably benign	0.03
IGL01797:Ush2a	APN	1	187,995,706 (GRCm39)	missense	probably damaging	1.00
IGL01802:Ush2a	APN	1	188,169,154 (GRCm39)	missense	probably damaging	0.99
IGL01836:Ush2a	APN	1	188,492,060 (GRCm39)	splice site	probably benign
IGL01938:Ush2a	APN	1	188,530,042 (GRCm39)	missense	probably damaging	1.00
IGL01976:Ush2a	APN	1	188,643,438 (GRCm39)	missense	probably benign	0.04
IGL02023:Ush2a	APN	1	188,465,711 (GRCm39)	missense	probably benign	0.03
IGL02126:Ush2a	APN	1	187,995,588 (GRCm39)	missense	probably benign	0.01
IGL02133:Ush2a	APN	1	188,175,540 (GRCm39)	missense	probably damaging	1.00
IGL02147:Ush2a	APN	1	188,596,900 (GRCm39)	missense	probably benign
IGL02275:Ush2a	APN	1	187,995,466 (GRCm39)	missense	possibly damaging	0.67
IGL02314:Ush2a	APN	1	188,365,826 (GRCm39)	missense	probably benign	0.00
IGL02353:Ush2a	APN	1	188,460,635 (GRCm39)	missense	probably benign	0.04
IGL02360:Ush2a	APN	1	188,460,635 (GRCm39)	missense	probably benign	0.04
IGL02367:Ush2a	APN	1	188,516,943 (GRCm39)	missense	probably benign
IGL02402:Ush2a	APN	1	187,999,305 (GRCm39)	missense	probably benign	0.02
IGL02410:Ush2a	APN	1	188,648,194 (GRCm39)	missense	probably damaging	1.00
IGL02490:Ush2a	APN	1	188,542,561 (GRCm39)	missense	probably damaging	1.00
IGL02500:Ush2a	APN	1	188,554,893 (GRCm39)	missense	probably damaging	1.00
IGL02511:Ush2a	APN	1	188,475,884 (GRCm39)	critical splice donor site	probably null
IGL02517:Ush2a	APN	1	188,648,195 (GRCm39)	missense	probably damaging	1.00
IGL02536:Ush2a	APN	1	188,689,463 (GRCm39)	critical splice acceptor site	probably null
IGL02585:Ush2a	APN	1	188,460,530 (GRCm39)	missense	probably benign	0.00
IGL02610:Ush2a	APN	1	188,176,663 (GRCm39)	missense	probably damaging	0.98
IGL02677:Ush2a	APN	1	188,466,882 (GRCm39)	missense	probably damaging	1.00
IGL02691:Ush2a	APN	1	188,466,949 (GRCm39)	missense	probably damaging	1.00
IGL02740:Ush2a	APN	1	188,380,585 (GRCm39)	missense	possibly damaging	0.68
IGL02744:Ush2a	APN	1	188,090,914 (GRCm39)	splice site	probably null
IGL02749:Ush2a	APN	1	188,679,155 (GRCm39)	missense	probably damaging	0.99
IGL02806:Ush2a	APN	1	188,542,554 (GRCm39)	nonsense	probably null
IGL02870:Ush2a	APN	1	188,410,555 (GRCm39)	missense	probably benign	0.42
IGL02894:Ush2a	APN	1	188,184,043 (GRCm39)	missense	probably damaging	1.00
IGL02904:Ush2a	APN	1	188,638,703 (GRCm39)	missense	probably benign	0.06
IGL03000:Ush2a	APN	1	188,282,053 (GRCm39)	missense	possibly damaging	0.81
IGL03015:Ush2a	APN	1	188,169,147 (GRCm39)	missense	probably benign	0.01
IGL03036:Ush2a	APN	1	188,596,818 (GRCm39)	missense	possibly damaging	0.80
IGL03057:Ush2a	APN	1	188,530,035 (GRCm39)	missense	probably damaging	1.00
IGL03230:Ush2a	APN	1	188,198,390 (GRCm39)	missense	probably benign	0.09
IGL03278:Ush2a	APN	1	188,581,313 (GRCm39)	missense	probably damaging	1.00
BB003:Ush2a	UTSW	1	188,460,797 (GRCm39)	missense	probably benign
BB013:Ush2a	UTSW	1	188,460,797 (GRCm39)	missense	probably benign
PIT4283001:Ush2a	UTSW	1	188,169,064 (GRCm39)	missense	probably benign	0.01
R0003:Ush2a	UTSW	1	188,310,688 (GRCm39)	missense	probably damaging	0.99
R0030:Ush2a	UTSW	1	188,554,854 (GRCm39)	missense	possibly damaging	0.51
R0035:Ush2a	UTSW	1	188,089,085 (GRCm39)	missense	probably benign
R0038:Ush2a	UTSW	1	188,358,809 (GRCm39)	missense	probably benign	0.00
R0038:Ush2a	UTSW	1	188,358,809 (GRCm39)	missense	probably benign	0.00
R0067:Ush2a	UTSW	1	188,697,043 (GRCm39)	missense	probably damaging	0.99
R0067:Ush2a	UTSW	1	188,697,043 (GRCm39)	missense	probably damaging	0.99
R0103:Ush2a	UTSW	1	188,051,267 (GRCm39)	missense	possibly damaging	0.81
R0103:Ush2a	UTSW	1	188,051,267 (GRCm39)	missense	possibly damaging	0.81
R0122:Ush2a	UTSW	1	188,680,652 (GRCm39)	missense	possibly damaging	0.65
R0206:Ush2a	UTSW	1	188,263,958 (GRCm39)	missense	probably damaging	0.99
R0208:Ush2a	UTSW	1	188,263,958 (GRCm39)	missense	probably damaging	0.99
R0230:Ush2a	UTSW	1	188,582,301 (GRCm39)	missense	probably damaging	1.00
R0269:Ush2a	UTSW	1	188,542,373 (GRCm39)	missense	probably benign	0.33
R0319:Ush2a	UTSW	1	188,680,571 (GRCm39)	splice site	probably benign
R0358:Ush2a	UTSW	1	188,269,977 (GRCm39)	missense	possibly damaging	0.83
R0379:Ush2a	UTSW	1	188,184,016 (GRCm39)	missense	probably damaging	1.00
R0427:Ush2a	UTSW	1	188,132,478 (GRCm39)	missense	probably damaging	1.00
R0437:Ush2a	UTSW	1	188,643,228 (GRCm39)	missense	probably benign	0.00
R0462:Ush2a	UTSW	1	188,643,136 (GRCm39)	missense	probably benign
R0510:Ush2a	UTSW	1	188,466,860 (GRCm39)	splice site	probably benign
R0531:Ush2a	UTSW	1	188,175,378 (GRCm39)	missense	probably benign	0.18
R0541:Ush2a	UTSW	1	188,446,663 (GRCm39)	splice site	probably benign
R0549:Ush2a	UTSW	1	188,679,150 (GRCm39)	missense	probably damaging	0.99
R0562:Ush2a	UTSW	1	188,089,044 (GRCm39)	missense	probably damaging	1.00
R0636:Ush2a	UTSW	1	188,554,935 (GRCm39)	missense	probably benign
R0662:Ush2a	UTSW	1	188,083,290 (GRCm39)	missense	probably benign	0.26
R0685:Ush2a	UTSW	1	188,132,475 (GRCm39)	missense	probably damaging	1.00
R0718:Ush2a	UTSW	1	188,530,027 (GRCm39)	missense	probably damaging	1.00
R0725:Ush2a	UTSW	1	188,683,722 (GRCm39)	missense	probably damaging	1.00
R0735:Ush2a	UTSW	1	188,596,890 (GRCm39)	missense	probably benign	0.04
R0744:Ush2a	UTSW	1	188,546,603 (GRCm39)	splice site	probably benign
R0765:Ush2a	UTSW	1	188,680,771 (GRCm39)	missense	possibly damaging	0.67
R0862:Ush2a	UTSW	1	188,275,015 (GRCm39)	nonsense	probably null
R1067:Ush2a	UTSW	1	188,282,404 (GRCm39)	missense	probably benign	0.35
R1072:Ush2a	UTSW	1	188,460,914 (GRCm39)	missense	possibly damaging	0.91
R1099:Ush2a	UTSW	1	188,596,836 (GRCm39)	missense	probably damaging	1.00
R1099:Ush2a	UTSW	1	188,380,545 (GRCm39)	missense	probably benign	0.06
R1104:Ush2a	UTSW	1	188,648,453 (GRCm39)	missense	probably benign
R1106:Ush2a	UTSW	1	188,643,180 (GRCm39)	missense	possibly damaging	0.82
R1124:Ush2a	UTSW	1	188,485,733 (GRCm39)	missense	probably damaging	0.99
R1168:Ush2a	UTSW	1	188,410,608 (GRCm39)	missense	probably benign	0.01
R1215:Ush2a	UTSW	1	188,689,479 (GRCm39)	missense	possibly damaging	0.66
R1307:Ush2a	UTSW	1	188,184,037 (GRCm39)	missense	probably damaging	1.00
R1307:Ush2a	UTSW	1	188,090,164 (GRCm39)	missense	probably damaging	1.00
R1311:Ush2a	UTSW	1	188,679,342 (GRCm39)	missense	possibly damaging	0.86
R1388:Ush2a	UTSW	1	188,255,515 (GRCm39)	splice site	probably benign
R1416:Ush2a	UTSW	1	188,169,080 (GRCm39)	missense	probably damaging	1.00
R1424:Ush2a	UTSW	1	188,275,075 (GRCm39)	critical splice donor site	probably null
R1459:Ush2a	UTSW	1	188,595,048 (GRCm39)	missense	probably benign	0.05
R1470:Ush2a	UTSW	1	188,132,403 (GRCm39)	missense	probably benign	0.00
R1470:Ush2a	UTSW	1	188,132,403 (GRCm39)	missense	probably benign	0.00
R1477:Ush2a	UTSW	1	188,581,273 (GRCm39)	missense	probably benign	0.05
R1484:Ush2a	UTSW	1	188,542,534 (GRCm39)	nonsense	probably null
R1490:Ush2a	UTSW	1	188,092,038 (GRCm39)	missense	probably benign	0.24
R1510:Ush2a	UTSW	1	188,380,501 (GRCm39)	missense	probably damaging	1.00
R1522:Ush2a	UTSW	1	188,530,011 (GRCm39)	missense	possibly damaging	0.94
R1606:Ush2a	UTSW	1	188,491,963 (GRCm39)	missense	probably benign	0.17
R1618:Ush2a	UTSW	1	188,546,421 (GRCm39)	missense	probably benign	0.29
R1636:Ush2a	UTSW	1	188,198,373 (GRCm39)	missense	possibly damaging	0.53
R1646:Ush2a	UTSW	1	188,148,018 (GRCm39)	missense	probably damaging	1.00
R1660:Ush2a	UTSW	1	188,648,261 (GRCm39)	missense	probably benign
R1676:Ush2a	UTSW	1	188,460,782 (GRCm39)	missense	probably damaging	1.00
R1704:Ush2a	UTSW	1	188,553,993 (GRCm39)	missense	probably damaging	1.00
R1705:Ush2a	UTSW	1	188,643,738 (GRCm39)	missense	probably benign	0.40
R1705:Ush2a	UTSW	1	188,607,066 (GRCm39)	missense	probably damaging	1.00
R1760:Ush2a	UTSW	1	188,643,180 (GRCm39)	missense	possibly damaging	0.82
R1776:Ush2a	UTSW	1	188,460,400 (GRCm39)	missense	possibly damaging	0.83
R1782:Ush2a	UTSW	1	188,643,382 (GRCm39)	missense	probably benign	0.06
R1794:Ush2a	UTSW	1	188,595,006 (GRCm39)	missense	probably benign	0.00
R1796:Ush2a	UTSW	1	188,643,024 (GRCm39)	missense	probably benign	0.11
R1804:Ush2a	UTSW	1	188,365,926 (GRCm39)	critical splice donor site	probably null
R1835:Ush2a	UTSW	1	188,184,015 (GRCm39)	missense	probably benign	0.13
R1871:Ush2a	UTSW	1	188,558,665 (GRCm39)	missense	probably benign	0.02
R1876:Ush2a	UTSW	1	188,410,486 (GRCm39)	missense	possibly damaging	0.51
R1887:Ush2a	UTSW	1	188,132,177 (GRCm39)	missense	probably benign	0.05
R1896:Ush2a	UTSW	1	188,282,206 (GRCm39)	missense	probably benign	0.00
R1907:Ush2a	UTSW	1	188,447,261 (GRCm39)	missense	probably benign	0.01
R1940:Ush2a	UTSW	1	188,683,758 (GRCm39)	missense	probably null	0.89
R1950:Ush2a	UTSW	1	188,487,382 (GRCm39)	missense	probably damaging	1.00
R1991:Ush2a	UTSW	1	188,310,729 (GRCm39)	splice site	probably benign
R2043:Ush2a	UTSW	1	188,648,453 (GRCm39)	missense	probably benign	0.00
R2046:Ush2a	UTSW	1	188,089,124 (GRCm39)	missense	probably benign	0.01
R2059:Ush2a	UTSW	1	188,113,746 (GRCm39)	critical splice donor site	probably null
R2239:Ush2a	UTSW	1	188,308,411 (GRCm39)	missense	probably benign
R2365:Ush2a	UTSW	1	188,111,188 (GRCm39)	missense	possibly damaging	0.68
R2395:Ush2a	UTSW	1	188,679,237 (GRCm39)	missense	probably damaging	1.00
R2425:Ush2a	UTSW	1	188,270,001 (GRCm39)	missense	possibly damaging	0.82
R2519:Ush2a	UTSW	1	187,999,304 (GRCm39)	missense	probably benign
R3039:Ush2a	UTSW	1	188,643,744 (GRCm39)	missense	probably damaging	0.99
R3434:Ush2a	UTSW	1	188,465,955 (GRCm39)	missense	probably damaging	1.00
R3711:Ush2a	UTSW	1	188,542,489 (GRCm39)	missense	probably benign	0.05
R3712:Ush2a	UTSW	1	188,542,489 (GRCm39)	missense	probably benign	0.05
R3732:Ush2a	UTSW	1	188,676,957 (GRCm39)	missense	probably benign	0.16
R3746:Ush2a	UTSW	1	188,542,489 (GRCm39)	missense	probably benign	0.05
R3747:Ush2a	UTSW	1	188,542,489 (GRCm39)	missense	probably benign	0.05
R3883:Ush2a	UTSW	1	187,995,579 (GRCm39)	missense	probably benign
R3911:Ush2a	UTSW	1	188,132,151 (GRCm39)	missense	probably benign	0.05
R3934:Ush2a	UTSW	1	187,995,708 (GRCm39)	critical splice donor site	probably null
R3946:Ush2a	UTSW	1	188,460,701 (GRCm39)	missense	probably benign	0.01
R3974:Ush2a	UTSW	1	188,113,698 (GRCm39)	missense	probably benign	0.06
R4158:Ush2a	UTSW	1	188,460,907 (GRCm39)	missense	probably damaging	1.00
R4159:Ush2a	UTSW	1	188,460,907 (GRCm39)	missense	probably damaging	1.00
R4161:Ush2a	UTSW	1	188,460,907 (GRCm39)	missense	probably damaging	1.00
R4162:Ush2a	UTSW	1	188,475,877 (GRCm39)	missense	probably benign	0.00
R4255:Ush2a	UTSW	1	188,492,040 (GRCm39)	nonsense	probably null
R4280:Ush2a	UTSW	1	188,310,658 (GRCm39)	missense	probably benign	0.16
R4387:Ush2a	UTSW	1	188,175,628 (GRCm39)	missense	probably benign	0.00
R4416:Ush2a	UTSW	1	188,089,071 (GRCm39)	missense	probably damaging	0.97
R4494:Ush2a	UTSW	1	188,285,473 (GRCm39)	missense	possibly damaging	0.50
R4505:Ush2a	UTSW	1	188,460,793 (GRCm39)	missense	possibly damaging	0.92
R4522:Ush2a	UTSW	1	188,596,822 (GRCm39)	missense	probably damaging	1.00
R4584:Ush2a	UTSW	1	188,183,995 (GRCm39)	missense	probably benign	0.00
R4599:Ush2a	UTSW	1	188,643,844 (GRCm39)	missense	probably benign	0.01
R4605:Ush2a	UTSW	1	188,642,998 (GRCm39)	missense	probably damaging	1.00
R4632:Ush2a	UTSW	1	188,128,071 (GRCm39)	missense	possibly damaging	0.82
R4688:Ush2a	UTSW	1	188,132,138 (GRCm39)	missense	probably benign	0.01
R4751:Ush2a	UTSW	1	188,582,284 (GRCm39)	missense	probably damaging	0.98
R4770:Ush2a	UTSW	1	188,282,076 (GRCm39)	missense	probably benign	0.25
R4771:Ush2a	UTSW	1	188,529,966 (GRCm39)	missense	possibly damaging	0.92
R4798:Ush2a	UTSW	1	188,475,742 (GRCm39)	missense	probably damaging	1.00
R4821:Ush2a	UTSW	1	188,485,848 (GRCm39)	missense	probably benign	0.32
R4857:Ush2a	UTSW	1	188,269,917 (GRCm39)	missense	probably benign	0.01
R4860:Ush2a	UTSW	1	188,285,472 (GRCm39)	missense	probably benign	0.07
R4860:Ush2a	UTSW	1	188,285,472 (GRCm39)	missense	probably benign	0.07
R4898:Ush2a	UTSW	1	188,358,805 (GRCm39)	missense	probably benign	0.37
R4993:Ush2a	UTSW	1	188,642,917 (GRCm39)	missense	probably benign	0.03
R5035:Ush2a	UTSW	1	188,643,005 (GRCm39)	missense	probably damaging	1.00
R5061:Ush2a	UTSW	1	188,689,471 (GRCm39)	missense	probably benign	0.03
R5150:Ush2a	UTSW	1	188,184,067 (GRCm39)	missense	possibly damaging	0.95
R5205:Ush2a	UTSW	1	188,607,133 (GRCm39)	missense	probably benign	0.21
R5212:Ush2a	UTSW	1	188,176,902 (GRCm39)	critical splice donor site	probably null
R5252:Ush2a	UTSW	1	188,553,914 (GRCm39)	missense	possibly damaging	0.83
R5260:Ush2a	UTSW	1	188,679,276 (GRCm39)	missense	possibly damaging	0.95
R5304:Ush2a	UTSW	1	188,088,995 (GRCm39)	missense	probably damaging	0.99
R5323:Ush2a	UTSW	1	188,553,874 (GRCm39)	critical splice acceptor site	probably null
R5330:Ush2a	UTSW	1	188,460,578 (GRCm39)	missense	probably benign	0.00
R5331:Ush2a	UTSW	1	188,460,578 (GRCm39)	missense	probably benign	0.00
R5332:Ush2a	UTSW	1	188,083,276 (GRCm39)	missense	probably damaging	1.00
R5371:Ush2a	UTSW	1	188,175,267 (GRCm39)	missense	probably benign	0.00
R5374:Ush2a	UTSW	1	188,487,403 (GRCm39)	missense	probably benign
R5377:Ush2a	UTSW	1	188,644,320 (GRCm39)	missense	probably benign	0.00
R5525:Ush2a	UTSW	1	188,485,803 (GRCm39)	missense	probably benign	0.01
R5558:Ush2a	UTSW	1	188,530,024 (GRCm39)	missense	possibly damaging	0.47
R5562:Ush2a	UTSW	1	188,308,414 (GRCm39)	missense	probably damaging	1.00
R5595:Ush2a	UTSW	1	188,638,695 (GRCm39)	missense	possibly damaging	0.95
R5620:Ush2a	UTSW	1	188,492,020 (GRCm39)	missense	possibly damaging	0.82
R5714:Ush2a	UTSW	1	188,132,454 (GRCm39)	missense	probably benign	0.00
R5743:Ush2a	UTSW	1	188,169,159 (GRCm39)	missense	probably benign	0.01
R5779:Ush2a	UTSW	1	188,175,707 (GRCm39)	critical splice donor site	probably null
R5795:Ush2a	UTSW	1	188,175,594 (GRCm39)	missense	probably benign	0.34
R5897:Ush2a	UTSW	1	188,553,935 (GRCm39)	missense	probably damaging	1.00
R5918:Ush2a	UTSW	1	188,089,011 (GRCm39)	missense	probably benign	0.26
R6000:Ush2a	UTSW	1	187,999,223 (GRCm39)	nonsense	probably null
R6014:Ush2a	UTSW	1	188,582,237 (GRCm39)	missense	probably damaging	0.98
R6017:Ush2a	UTSW	1	188,689,711 (GRCm39)	critical splice donor site	probably null
R6020:Ush2a	UTSW	1	188,460,293 (GRCm39)	splice site	probably null
R6039:Ush2a	UTSW	1	188,051,217 (GRCm39)	missense	possibly damaging	0.76
R6039:Ush2a	UTSW	1	188,051,217 (GRCm39)	missense	possibly damaging	0.76
R6050:Ush2a	UTSW	1	188,689,521 (GRCm39)	missense	probably benign	0.06
R6083:Ush2a	UTSW	1	187,999,220 (GRCm39)	missense	probably damaging	1.00
R6091:Ush2a	UTSW	1	188,132,000 (GRCm39)	missense	probably damaging	1.00
R6120:Ush2a	UTSW	1	188,090,800 (GRCm39)	missense	probably benign	0.04
R6135:Ush2a	UTSW	1	188,644,303 (GRCm39)	missense	possibly damaging	0.68
R6141:Ush2a	UTSW	1	188,090,160 (GRCm39)	missense	possibly damaging	0.71
R6157:Ush2a	UTSW	1	188,460,467 (GRCm39)	missense	probably benign	0.00
R6180:Ush2a	UTSW	1	188,132,068 (GRCm39)	nonsense	probably null
R6191:Ush2a	UTSW	1	187,995,298 (GRCm39)	nonsense	probably null
R6217:Ush2a	UTSW	1	188,475,651 (GRCm39)	splice site	probably null
R6263:Ush2a	UTSW	1	188,090,839 (GRCm39)	missense	probably damaging	1.00
R6294:Ush2a	UTSW	1	188,268,567 (GRCm39)	missense	possibly damaging	0.49
R6320:Ush2a	UTSW	1	188,089,043 (GRCm39)	missense	probably benign	0.01
R6321:Ush2a	UTSW	1	188,581,243 (GRCm39)	nonsense	probably null
R6347:Ush2a	UTSW	1	188,643,084 (GRCm39)	missense	probably benign
R6382:Ush2a	UTSW	1	188,546,499 (GRCm39)	missense	probably benign	0.01
R6408:Ush2a	UTSW	1	187,999,229 (GRCm39)	nonsense	probably null
R6418:Ush2a	UTSW	1	188,360,763 (GRCm39)	missense	probably damaging	1.00
R6500:Ush2a	UTSW	1	188,573,724 (GRCm39)	missense	probably benign	0.00
R6504:Ush2a	UTSW	1	188,643,444 (GRCm39)	missense	probably benign	0.00
R6534:Ush2a	UTSW	1	188,183,999 (GRCm39)	nonsense	probably null
R6594:Ush2a	UTSW	1	188,642,995 (GRCm39)	missense	possibly damaging	0.93
R6612:Ush2a	UTSW	1	188,643,594 (GRCm39)	missense	possibly damaging	0.91
R6645:Ush2a	UTSW	1	188,255,528 (GRCm39)	missense	probably damaging	0.99
R6658:Ush2a	UTSW	1	188,546,556 (GRCm39)	missense	possibly damaging	0.95
R6726:Ush2a	UTSW	1	188,485,881 (GRCm39)	missense	possibly damaging	0.85
R6755:Ush2a	UTSW	1	188,175,416 (GRCm39)	missense	possibly damaging	0.95
R6782:Ush2a	UTSW	1	188,089,031 (GRCm39)	missense	probably benign
R6817:Ush2a	UTSW	1	188,595,061 (GRCm39)	missense	probably benign	0.03
R6834:Ush2a	UTSW	1	188,088,989 (GRCm39)	missense	probably damaging	1.00
R6851:Ush2a	UTSW	1	188,265,402 (GRCm39)	missense	probably benign	0.06
R6853:Ush2a	UTSW	1	188,643,434 (GRCm39)	nonsense	probably null
R6867:Ush2a	UTSW	1	188,643,170 (GRCm39)	missense	probably damaging	1.00
R6889:Ush2a	UTSW	1	188,530,068 (GRCm39)	missense	probably damaging	1.00
R6931:Ush2a	UTSW	1	188,460,580 (GRCm39)	missense	probably benign	0.01
R6953:Ush2a	UTSW	1	187,995,342 (GRCm39)	missense	possibly damaging	0.94
R6966:Ush2a	UTSW	1	188,308,441 (GRCm39)	missense	probably damaging	1.00
R7109:Ush2a	UTSW	1	188,113,681 (GRCm39)	missense	probably benign	0.19
R7153:Ush2a	UTSW	1	188,460,681 (GRCm39)	missense	possibly damaging	0.93
R7176:Ush2a	UTSW	1	188,269,925 (GRCm39)	missense	probably benign	0.00
R7182:Ush2a	UTSW	1	188,485,740 (GRCm39)	missense	probably benign	0.01
R7201:Ush2a	UTSW	1	188,606,951 (GRCm39)	missense	probably benign
R7223:Ush2a	UTSW	1	188,542,414 (GRCm39)	missense	probably benign	0.09
R7231:Ush2a	UTSW	1	188,491,960 (GRCm39)	missense	possibly damaging	0.49
R7240:Ush2a	UTSW	1	188,643,858 (GRCm39)	missense	possibly damaging	0.83
R7263:Ush2a	UTSW	1	188,175,526 (GRCm39)	missense	possibly damaging	0.94
R7329:Ush2a	UTSW	1	188,285,395 (GRCm39)	missense	probably damaging	0.97
R7343:Ush2a	UTSW	1	188,147,943 (GRCm39)	missense	probably benign	0.00
R7352:Ush2a	UTSW	1	188,198,321 (GRCm39)	missense	probably benign	0.04
R7384:Ush2a	UTSW	1	188,132,360 (GRCm39)	missense	probably damaging	0.99
R7391:Ush2a	UTSW	1	188,694,205 (GRCm39)	small deletion	probably benign
R7394:Ush2a	UTSW	1	188,643,613 (GRCm39)	missense	possibly damaging	0.83
R7403:Ush2a	UTSW	1	188,365,924 (GRCm39)	missense	probably damaging	1.00
R7408:Ush2a	UTSW	1	188,465,726 (GRCm39)	missense	probably benign	0.00
R7453:Ush2a	UTSW	1	188,285,308 (GRCm39)	missense	probably damaging	1.00
R7496:Ush2a	UTSW	1	188,083,284 (GRCm39)	missense	possibly damaging	0.50
R7552:Ush2a	UTSW	1	187,999,241 (GRCm39)	missense	possibly damaging	0.65
R7556:Ush2a	UTSW	1	188,689,690 (GRCm39)	missense	probably benign	0.31
R7575:Ush2a	UTSW	1	188,554,885 (GRCm39)	missense	possibly damaging	0.90
R7578:Ush2a	UTSW	1	188,282,110 (GRCm39)	missense	probably damaging	1.00
R7584:Ush2a	UTSW	1	188,460,306 (GRCm39)	critical splice acceptor site	probably null
R7589:Ush2a	UTSW	1	188,275,046 (GRCm39)	missense	probably benign	0.00
R7602:Ush2a	UTSW	1	188,380,606 (GRCm39)	missense	probably damaging	1.00
R7670:Ush2a	UTSW	1	188,516,905 (GRCm39)	missense	possibly damaging	0.78
R7743:Ush2a	UTSW	1	188,542,376 (GRCm39)	missense	probably benign	0.05
R7753:Ush2a	UTSW	1	188,175,603 (GRCm39)	missense	probably benign	0.28
R7767:Ush2a	UTSW	1	188,285,457 (GRCm39)	missense	probably benign	0.01
R7784:Ush2a	UTSW	1	188,176,789 (GRCm39)	missense	possibly damaging	0.55
R7831:Ush2a	UTSW	1	188,492,038 (GRCm39)	missense	probably damaging	0.98
R7834:Ush2a	UTSW	1	188,465,637 (GRCm39)	nonsense	probably null
R7847:Ush2a	UTSW	1	188,163,005 (GRCm39)	missense	probably damaging	1.00
R7926:Ush2a	UTSW	1	188,460,797 (GRCm39)	missense	probably benign
R7969:Ush2a	UTSW	1	188,558,568 (GRCm39)	missense	probably benign	0.02
R7978:Ush2a	UTSW	1	188,132,135 (GRCm39)	missense	probably benign	0.00
R7990:Ush2a	UTSW	1	188,274,996 (GRCm39)	missense	probably benign	0.00
R8001:Ush2a	UTSW	1	188,643,261 (GRCm39)	missense	probably damaging	0.98
R8039:Ush2a	UTSW	1	188,689,570 (GRCm39)	missense	probably damaging	1.00
R8077:Ush2a	UTSW	1	188,275,025 (GRCm39)	missense	probably benign	0.01
R8165:Ush2a	UTSW	1	188,183,952 (GRCm39)	missense	possibly damaging	0.70
R8208:Ush2a	UTSW	1	188,606,990 (GRCm39)	missense	possibly damaging	0.95
R8220:Ush2a	UTSW	1	188,460,863 (GRCm39)	missense	probably damaging	1.00
R8270:Ush2a	UTSW	1	188,176,838 (GRCm39)	missense	probably benign	0.06
R8316:Ush2a	UTSW	1	188,178,899 (GRCm39)	missense	probably benign	0.01
R8347:Ush2a	UTSW	1	188,679,281 (GRCm39)	missense	probably benign	0.02
R8360:Ush2a	UTSW	1	188,198,468 (GRCm39)	missense	probably benign	0.01
R8362:Ush2a	UTSW	1	188,689,650 (GRCm39)	missense	probably damaging	0.96
R8386:Ush2a	UTSW	1	188,460,403 (GRCm39)	missense	possibly damaging	0.80
R8401:Ush2a	UTSW	1	188,275,062 (GRCm39)	missense	probably benign	0.10
R8439:Ush2a	UTSW	1	188,582,254 (GRCm39)	missense	probably damaging	1.00
R8465:Ush2a	UTSW	1	188,147,875 (GRCm39)	missense	probably damaging	1.00
R8478:Ush2a	UTSW	1	188,175,429 (GRCm39)	missense	possibly damaging	0.83
R8540:Ush2a	UTSW	1	188,274,858 (GRCm39)	missense	probably benign	0.00
R8684:Ush2a	UTSW	1	188,643,220 (GRCm39)	missense	possibly damaging	0.45
R8685:Ush2a	UTSW	1	188,198,401 (GRCm39)	missense	probably damaging	1.00
R8699:Ush2a	UTSW	1	188,643,574 (GRCm39)	missense	probably damaging	1.00
R8720:Ush2a	UTSW	1	188,090,715 (GRCm39)	missense	probably benign	0.05
R8754:Ush2a	UTSW	1	188,581,162 (GRCm39)	nonsense	probably null
R8756:Ush2a	UTSW	1	188,644,141 (GRCm39)	missense	possibly damaging	0.91
R8788:Ush2a	UTSW	1	188,475,816 (GRCm39)	nonsense	probably null
R8803:Ush2a	UTSW	1	188,676,998 (GRCm39)	missense	probably benign
R8817:Ush2a	UTSW	1	187,995,231 (GRCm39)	start codon destroyed	probably benign	0.00
R8837:Ush2a	UTSW	1	188,485,847 (GRCm39)	missense	probably benign
R8880:Ush2a	UTSW	1	188,460,733 (GRCm39)	missense	probably benign	0.11
R8902:Ush2a	UTSW	1	188,175,281 (GRCm39)	missense	probably damaging	0.98
R8918:Ush2a	UTSW	1	188,270,017 (GRCm39)	missense	possibly damaging	0.85
R8940:Ush2a	UTSW	1	188,132,505 (GRCm39)	missense	probably benign	0.02
R8968:Ush2a	UTSW	1	188,127,956 (GRCm39)	missense	probably damaging	1.00
R8995:Ush2a	UTSW	1	188,176,850 (GRCm39)	missense	probably damaging	0.98
R9011:Ush2a	UTSW	1	188,638,676 (GRCm39)	missense	probably damaging	0.99
R9037:Ush2a	UTSW	1	187,995,487 (GRCm39)	missense	possibly damaging	0.51
R9063:Ush2a	UTSW	1	187,995,457 (GRCm39)	missense	probably benign	0.00
R9089:Ush2a	UTSW	1	188,487,374 (GRCm39)	nonsense	probably null
R9096:Ush2a	UTSW	1	188,198,333 (GRCm39)	missense	probably benign	0.00
R9118:Ush2a	UTSW	1	188,386,839 (GRCm39)	missense	probably damaging	0.98
R9174:Ush2a	UTSW	1	188,460,416 (GRCm39)	missense	probably damaging	0.99
R9210:Ush2a	UTSW	1	188,516,866 (GRCm39)	missense	probably null	0.01
R9242:Ush2a	UTSW	1	188,365,787 (GRCm39)	missense	probably damaging	1.00
R9321:Ush2a	UTSW	1	188,089,148 (GRCm39)	missense	probably damaging	0.97
R9338:Ush2a	UTSW	1	188,308,489 (GRCm39)	critical splice donor site	probably null
R9357:Ush2a	UTSW	1	188,607,147 (GRCm39)	missense	probably benign	0.01
R9358:Ush2a	UTSW	1	188,607,147 (GRCm39)	missense	probably benign	0.01
R9406:Ush2a	UTSW	1	187,995,646 (GRCm39)	missense	probably benign	0.00
R9407:Ush2a	UTSW	1	188,644,045 (GRCm39)	missense	probably damaging	1.00
R9428:Ush2a	UTSW	1	188,175,316 (GRCm39)	missense	probably damaging	1.00
R9456:Ush2a	UTSW	1	188,558,589 (GRCm39)	missense	probably benign	0.00
R9507:Ush2a	UTSW	1	188,596,937 (GRCm39)	nonsense	probably null
R9509:Ush2a	UTSW	1	188,648,440 (GRCm39)	missense	probably damaging	1.00
R9512:Ush2a	UTSW	1	188,643,160 (GRCm39)	missense	probably damaging	0.99
R9564:Ush2a	UTSW	1	188,268,551 (GRCm39)	missense	possibly damaging	0.90
R9612:Ush2a	UTSW	1	188,092,063 (GRCm39)	nonsense	probably null
R9670:Ush2a	UTSW	1	188,360,768 (GRCm39)	missense	probably benign	0.03
R9684:Ush2a	UTSW	1	188,132,078 (GRCm39)	missense	possibly damaging	0.67
R9798:Ush2a	UTSW	1	188,644,002 (GRCm39)	missense	possibly damaging	0.80
RF017:Ush2a	UTSW	1	187,995,666 (GRCm39)	missense	probably damaging	1.00
U24488:Ush2a	UTSW	1	188,162,963 (GRCm39)	missense	probably damaging	0.99
X0011:Ush2a	UTSW	1	188,051,166 (GRCm39)	missense	probably benign	0.00
X0024:Ush2a	UTSW	1	188,132,479 (GRCm39)	missense	probably damaging	1.00
X0026:Ush2a	UTSW	1	188,051,222 (GRCm39)	missense	possibly damaging	0.94
X0062:Ush2a	UTSW	1	188,282,051 (GRCm39)	missense	probably damaging	1.00
Y4340:Ush2a	UTSW	1	188,475,826 (GRCm39)	missense	possibly damaging	0.87
Y4341:Ush2a	UTSW	1	188,475,826 (GRCm39)	missense	possibly damaging	0.87
Z1088:Ush2a	UTSW	1	188,679,201 (GRCm39)	missense	probably benign	0.26
Z1088:Ush2a	UTSW	1	188,644,180 (GRCm39)	missense	probably benign
Z1176:Ush2a	UTSW	1	188,089,038 (GRCm39)	missense	probably damaging	1.00
Z1177:Ush2a	UTSW	1	188,644,407 (GRCm39)	missense	possibly damaging	0.77
Z1177:Ush2a	UTSW	1	188,465,741 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTTAGAACCAGAGACCGAACATCG -3'
(R):5'- TGTGATATGCACCCATGCTTACAGC -3'

Sequencing Primer
(F):5'- AGCTCATGCCACTGGACTC -3'
(R):5'- GCAACTTTTAAGTGAGATTTTCCTGG -3'

Posted On

2014-01-15