Mutagenetix > Incidental Mutation

Incidental Mutation 'R4416:Ush2a'

326819

Institutional Source

Beutler Lab

Gene Symbol

Ush2a

Ensembl Gene

ENSMUSG00000026609

Gene Name

usherin

Synonyms

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

MMRRC Submission

041137-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R4416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

187995035-188697694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 188089071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 342 (I342T)

Ref Sequence

ENSEMBL: ENSMUSP00000050454 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000060479
AA Change: I342T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050454
Gene: ENSMUSG00000026609
AA Change: I342T

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: ENSMUST00000124358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142189

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	A	15: 59,888,272 (GRCm39)	E56V	possibly damaging	Het
Adam28	A	G	14: 68,859,531 (GRCm39)		probably null	Het
Bnc1	G	T	7: 81,618,708 (GRCm39)	H786N	probably benign	Het
Cav1	T	A	6: 17,339,248 (GRCm39)	M100K	probably benign	Het
Cdk9	A	G	2: 32,598,084 (GRCm39)	L273P	probably damaging	Het
Celsr1	A	G	15: 85,812,200 (GRCm39)	V2065A	probably damaging	Het
Cyp2c54	T	C	19: 40,026,703 (GRCm39)	Q484R	probably benign	Het
Elfn1	T	C	5: 139,957,949 (GRCm39)	S318P	possibly damaging	Het
Fbxl6	T	C	15: 76,421,924 (GRCm39)	E205G	possibly damaging	Het
Fhip2a	G	T	19: 57,373,829 (GRCm39)		probably null	Het
Frmd6	T	A	12: 70,924,023 (GRCm39)	Y94N	probably benign	Het
Gdpd1	A	T	11: 86,926,114 (GRCm39)	V277D	probably benign	Het
Grik1	C	A	16: 87,848,349 (GRCm39)	V140L	probably benign	Het
Grpel1	A	G	5: 36,628,616 (GRCm39)	H175R	probably damaging	Het
Gtdc1	G	T	2: 44,465,602 (GRCm39)		probably null	Het
Hivep2	A	T	10: 14,004,914 (GRCm39)	Q504L	probably benign	Het
Icos	A	T	1: 61,033,849 (GRCm39)	I160L	probably benign	Het
Igsf9b	G	T	9: 27,234,213 (GRCm39)	C442F	probably damaging	Het
Itga10	T	C	3: 96,565,562 (GRCm39)	V1062A	possibly damaging	Het
Lrp1b	C	T	2: 40,553,679 (GRCm39)	V386I	unknown	Het
Lrp2	G	T	2: 69,357,575 (GRCm39)	F409L	probably benign	Het
Nadk	T	G	4: 155,672,183 (GRCm39)	Y291*	probably null	Het
Nudt6	A	T	3: 37,459,378 (GRCm39)		probably null	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Or2ag1b	G	A	7: 106,288,218 (GRCm39)	T240I	probably benign	Het
Or6c70	T	C	10: 129,709,826 (GRCm39)	T267A	probably benign	Het
Or8d6	A	G	9: 39,853,724 (GRCm39)	H56R	probably damaging	Het
Pasd1	G	A	X: 70,983,225 (GRCm39)	C399Y	possibly damaging	Het
Pds5b	C	T	5: 150,659,861 (GRCm39)	P275S	probably damaging	Het
Pdzd7	T	A	19: 45,029,019 (GRCm39)	E117V	probably damaging	Het
Pik3ca	T	C	3: 32,515,679 (GRCm39)	V784A	probably damaging	Het
Polr3e	T	C	7: 120,538,280 (GRCm39)		probably null	Het
Rab3gap2	A	T	1: 185,014,544 (GRCm39)	D1231V	probably benign	Het
Rapgef2	C	A	3: 78,976,364 (GRCm39)	G1481*	probably null	Het
Rho	G	A	6: 115,912,191 (GRCm39)	V76I	probably benign	Het
Rrm1	A	G	7: 102,097,008 (GRCm39)	D96G	probably benign	Het
Slc35b2	G	A	17: 45,877,355 (GRCm39)	V161M	probably benign	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Srp9	A	T	1: 181,958,976 (GRCm39)	M50L	probably benign	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Sult1d1	A	G	5: 87,706,435 (GRCm39)	F169S	probably damaging	Het
Tmem63c	C	G	12: 87,128,676 (GRCm39)	T567R	probably benign	Het
Tmf1	G	T	6: 97,155,949 (GRCm39)	F12L	probably damaging	Het
Veph1	A	T	3: 65,968,606 (GRCm39)	N712K	probably damaging	Het
Vti1a	T	G	19: 55,369,380 (GRCm39)	S91A	probably benign	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
R1199:Ush2a	UTSW	1	188,491,992 (GRCm39)	missense	probably benign	0.00
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
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'- ACCATTTCAGGGAGATTCTAGAGG -3'
(R):5'- CCTTCATAACAACTCTAGGTTTTGC -3'

Sequencing Primer
(F):5'- CAGGGAGATTCTAGAGGTCTTTTC -3'
(R):5'- CCTTGAGATCATGAACTCTGCAG -3'

Posted On

2015-07-07