Mutagenetix > Incidental Mutation

Incidental Mutation 'R9407:Ush2a'

711573

Institutional Source

Beutler Lab

Gene Symbol

Ush2a

Ensembl Gene

ENSMUSG00000026609

Gene Name

usherin

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R9407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

187995035-188697694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 188644045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 4469 (Y4469C)

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: Y4469C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050454
Gene: ENSMUSG00000026609
AA Change: Y4469C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	C	14: 64,223,629 (GRCm39)	Y49C	probably damaging	Het
Abca6	A	T	11: 110,093,210 (GRCm39)	L1021*	probably null	Het
Abcc9	A	G	6: 142,574,229 (GRCm39)	S1003P	possibly damaging	Het
Aldh4a1	A	G	4: 139,372,345 (GRCm39)	I505V	probably benign	Het
Brwd1	T	C	16: 95,803,693 (GRCm39)	D2159G	possibly damaging	Het
C1s2	T	C	6: 124,602,454 (GRCm39)	I586V	probably benign	Het
Cd300e	C	A	11: 114,946,171 (GRCm39)	D97Y	probably damaging	Het
Celsr3	A	G	9: 108,723,596 (GRCm39)	D2877G	probably damaging	Het
Cep41	T	C	6: 30,655,841 (GRCm39)	N328D	probably benign	Het
Cldn15	G	A	5: 137,003,765 (GRCm39)	V227M	probably damaging	Het
Clec10a	T	G	11: 70,060,155 (GRCm39)	I98S	probably damaging	Het
Cpne4	A	G	9: 104,749,963 (GRCm39)	Q89R	probably damaging	Het
Cryba2	C	A	1: 74,932,037 (GRCm39)	A4S	probably benign	Het
Csmd2	G	A	4: 128,442,613 (GRCm39)	A3222T		Het
Dapk1	C	A	13: 60,898,991 (GRCm39)	Y820*	probably null	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Entrep3	C	A	3: 89,094,645 (GRCm39)	A416D	possibly damaging	Het
Gar1	A	G	3: 129,620,608 (GRCm39)	Y160H	probably damaging	Het
Gm21834	T	A	17: 58,048,863 (GRCm39)	I118L	probably benign	Het
Gtf2a1l	G	A	17: 89,001,531 (GRCm39)	G129D	probably damaging	Het
Gzmb	T	A	14: 56,497,712 (GRCm39)	Y176F	probably benign	Het
Helz2	T	G	2: 180,881,975 (GRCm39)	K273Q	probably benign	Het
Ifi207	T	A	1: 173,555,234 (GRCm39)	E816V	probably damaging	Het
Insr	A	C	8: 3,235,106 (GRCm39)	D694E	probably benign	Het
Insyn2b	G	A	11: 34,352,072 (GRCm39)	R38Q	probably damaging	Het
Ipcef1	A	T	10: 6,870,036 (GRCm39)	C172*	probably null	Het
Itgal	T	G	7: 126,921,796 (GRCm39)		probably null	Het
Laptm5	A	T	4: 130,655,990 (GRCm39)	M103L		Het
Lypd4	A	T	7: 24,566,160 (GRCm39)	C55S	probably null	Het
Mccc1	A	C	3: 36,030,865 (GRCm39)	H400Q	possibly damaging	Het
Myl4	C	T	11: 104,474,887 (GRCm39)	R79W	probably damaging	Het
Myo18a	A	G	11: 77,709,596 (GRCm39)	T569A	probably benign	Het
Or14a259	G	C	7: 86,013,194 (GRCm39)	S117*	probably null	Het
Or4c117	T	A	2: 88,955,629 (GRCm39)	T149S	probably benign	Het
Or5ak24	A	G	2: 85,261,060 (GRCm39)	S38P	probably damaging	Het
Otof	T	A	5: 30,538,265 (GRCm39)	D1153V	probably damaging	Het
Pcdha12	A	T	18: 37,153,614 (GRCm39)	D111V	probably damaging	Het
Pomt2	G	T	12: 87,157,146 (GRCm39)	F724L	probably damaging	Het
Ros1	T	A	10: 51,994,491 (GRCm39)	Y1284F	probably damaging	Het
Skint6	T	C	4: 113,034,224 (GRCm39)	K301R	possibly damaging	Het
Slc30a5	T	A	13: 100,951,214 (GRCm39)	R223*	probably null	Het
Slc35a1	A	T	4: 34,675,181 (GRCm39)	V119E	probably damaging	Het
Slc6a11	A	T	6: 114,220,914 (GRCm39)	I482F	probably damaging	Het
Tektl1	T	C	10: 78,583,128 (GRCm39)	T419A	probably damaging	Het
Tgm1	A	T	14: 55,942,991 (GRCm39)	C616*	probably null	Het
Tiam2	T	A	17: 3,553,298 (GRCm39)	I1125N	probably damaging	Het
Tln2	T	C	9: 67,136,732 (GRCm39)	D1251G	probably damaging	Het
Tnfaip2	C	G	12: 111,412,161 (GRCm39)	S187R	probably benign	Het
Vmn1r229	G	C	17: 21,035,259 (GRCm39)	C168S	probably damaging	Het
Vmn2r53	A	G	7: 12,335,124 (GRCm39)	S179P	probably damaging	Het
Zfp474	A	C	18: 52,771,502 (GRCm39)	I52L	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
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
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'- TCAATGCGATGGTGAGGAGC -3'
(R):5'- GGTCCCAATCAGCTAAGAGC -3'

Sequencing Primer
(F):5'- AGTATAATATCTCCCTTGTGGCCTG -3'
(R):5'- AGCTTTGGGGGCTGTAAACC -3'

Posted On

2022-05-16