Mutagenetix > Incidental Mutation

Incidental Mutation 'R7395:Stra6'

573751

Institutional Source

Beutler Lab

Gene Symbol

Stra6

Ensembl Gene

ENSMUSG00000032327

Gene Name

stimulated by retinoic acid gene 6

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7395 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58063788-58153996 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58141097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 158 (Y158H)

Ref Sequence

ENSEMBL: ENSMUSP00000034880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034880] [ENSMUST00000085677] [ENSMUST00000128021] [ENSMUST00000128378] [ENSMUST00000133287] [ENSMUST00000134450] [ENSMUST00000134955] [ENSMUST00000136154] [ENSMUST00000136338] [ENSMUST00000147134] [ENSMUST00000150820] [ENSMUST00000167479] [ENSMUST00000170397]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034880
AA Change: Y158H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327
AA Change: Y158H

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	659	1.6e-253	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085677
AA Change: Y158H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327
AA Change: Y158H

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	41	658	1.9e-248	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128021

SMART Domains

Protein: ENSMUSP00000117832
Gene: ENSMUSG00000032327

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	87	8.1e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128378
AA Change: Y158H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115511
Gene: ENSMUSG00000032327
AA Change: Y158H

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	164	4.7e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133287

SMART Domains

Protein: ENSMUSP00000114346
Gene: ENSMUSG00000032327

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	138	3.4e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134450

Predicted Effect

probably damaging
Transcript: ENSMUST00000134955
AA Change: Y158H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117280
Gene: ENSMUSG00000032327
AA Change: Y158H

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	190	1.3e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000136154
AA Change: Y158H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119062
Gene: ENSMUSG00000032327
AA Change: Y158H

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	199	1.7e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136338

SMART Domains

Protein: ENSMUSP00000115314
Gene: ENSMUSG00000032327

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	99	4e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000147134
AA Change: Y158H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115315
Gene: ENSMUSG00000032327
AA Change: Y158H

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	162	6.2e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000150820
AA Change: Y158H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122373
Gene: ENSMUSG00000032327
AA Change: Y158H

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	168	1.9e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167479
AA Change: Y158H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327
AA Change: Y158H

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	659	1.6e-253	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170397
AA Change: Y158H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327
AA Change: Y158H

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	659	1.6e-253	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (92/93)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Male mice homozygous for a gene trap allele exhibit growth retardation. Mice homozygous for a knock-out allele exhibit persistent hyperplastic primary vitreous, shorter inner and outer segment and reduced rod and cone function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 56,138,780		probably null	Het
4930433I11Rik	A	T	7: 40,989,678	T13S	probably damaging	Het
Abca13	A	G	11: 9,291,658	I1174V	probably benign	Het
Acoxl	G	A	2: 127,884,416	V237M	probably damaging	Het
Adam33	A	C	2: 131,061,169	W52G	probably benign	Het
Adgrv1	T	C	13: 81,559,348	H1313R	probably damaging	Het
Ap3d1	T	C	10: 80,730,882	T89A	probably benign	Het
Armc8	T	C	9: 99,533,132	E165G	probably damaging	Het
Atp6v1c1	T	C	15: 38,691,705	*383Q	probably null	Het
Atp8b4	A	T	2: 126,375,694	L634Q	possibly damaging	Het
B3glct	A	G	5: 149,725,604		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Bicd2	A	G	13: 49,378,230	D316G	possibly damaging	Het
Bop1	A	T	15: 76,453,841	S610T	probably damaging	Het
Car11	T	A	7: 45,701,321	Y80*	probably null	Het
Ccdc96	T	C	5: 36,485,265	I205T	probably benign	Het
Ces2a	A	G	8: 104,739,641	E390G	probably benign	Het
Cfap54	C	A	10: 92,884,703	V2630L	unknown	Het
Chek2	G	T	5: 110,872,108		probably null	Het
Cntn3	C	T	6: 102,337,394		probably null	Het
Cpne3	A	T	4: 19,528,239	D339E	probably damaging	Het
Crocc2	C	T	1: 93,216,107	Q1403*	probably null	Het
Csnka2ip	G	A	16: 64,479,440	T187I		Het
Ctu1	A	G	7: 43,676,595	H226R	possibly damaging	Het
Cubn	G	T	2: 13,287,064	Q3317K	probably damaging	Het
Cyp17a1	A	G	19: 46,670,695	L169P	probably benign	Het
Dcc	T	A	18: 71,374,569	K911*	probably null	Het
Dcun1d2	G	A	8: 13,278,675	R75*	probably null	Het
Defb19	A	T	2: 152,580,023		probably null	Het
Dffb	A	T	4: 153,969,113	S257R	probably damaging	Het
Dip2c	A	C	13: 9,614,377	N942T	probably damaging	Het
Dnah3	T	A	7: 119,966,251	I169F		Het
Dnah3	T	C	7: 120,060,960	M830V	probably benign	Het
Dnajc5g	G	A	5: 31,111,665	S130N	possibly damaging	Het
Dscaml1	C	A	9: 45,702,405	Q939K	possibly damaging	Het
Evpl	G	C	11: 116,227,079	N761K	possibly damaging	Het
Fbxw8	A	T	5: 118,068,215	I556N	probably damaging	Het
Fry	G	T	5: 150,380,883	M579I	possibly damaging	Het
Ggt7	A	T	2: 155,495,880	M488K	probably benign	Het
Gm6588	A	T	5: 112,450,169	E194V	possibly damaging	Het
Gnpnat1	T	A	14: 45,381,581	H107L	probably benign	Het
Golga2	C	A	2: 32,305,587	P798Q	possibly damaging	Het
Gpr35	G	A	1: 92,983,207	A214T	probably damaging	Het
Greb1	A	T	12: 16,709,430		probably null	Het
Hdac10	G	A	15: 89,128,284	T32I	probably benign	Het
Hkdc1	G	A	10: 62,385,699	T860I	probably damaging	Het
Icam5	C	A	9: 21,035,442	P422Q	possibly damaging	Het
Ispd	A	T	12: 36,501,995	I283F	possibly damaging	Het
Ist1	A	C	8: 109,677,527	S238A	probably benign	Het
Lrig2	T	C	3: 104,497,520	N91D	probably benign	Het
Mapt	A	C	11: 104,328,123	D352A	probably damaging	Het
Micall2	G	A	5: 139,716,369	P373L	possibly damaging	Het
Mocs1	A	G	17: 49,454,557	S560G	possibly damaging	Het
Mpo	A	G	11: 87,801,124	D461G	probably damaging	Het
Myo1a	G	T	10: 127,710,440	V271L	probably damaging	Het
Ncoa1	G	A	12: 4,295,188	P720S	not run	Het
Ncr1	T	A	7: 4,338,151	I47N	probably damaging	Het
Ndufb6	G	A	4: 40,277,730	R66C	probably damaging	Het
Obox5	A	T	7: 15,758,743	S208C	probably damaging	Het
Olfr136	A	T	17: 38,335,864	K236*	probably null	Het
Olfr1494	T	C	19: 13,749,138	S11P	probably damaging	Het
Olfr39	T	A	9: 20,286,530	M285K	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,404	F116Y	unknown	Het
Padi4	A	C	4: 140,761,672	V152G	probably damaging	Het
Pdzd7	A	T	19: 45,037,011	D348E	probably damaging	Het
Pdzph1	T	A	17: 58,879,159	K1212N	possibly damaging	Het
Piezo2	C	T	18: 63,027,563	G2341R	probably damaging	Het
Plb1	A	G	5: 32,353,684	K1298E	probably benign	Het
Prr14l	A	G	5: 32,828,638	L1171P	probably benign	Het
Rab11fip5	T	C	6: 85,341,868	T680A	probably benign	Het
Rev1	A	T	1: 38,088,065	N371K	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Ryr2	A	G	13: 11,785,111	C917R	probably damaging	Het
Sall1	A	T	8: 89,030,921	S852T	possibly damaging	Het
Serpine2	A	G	1: 79,801,555	F296L	probably damaging	Het
Slc12a6	A	T	2: 112,352,542	N754I	probably damaging	Het
Slc39a6	A	T	18: 24,585,275	L575Q	probably damaging	Het
Smarcc2	T	A	10: 128,485,606	L890Q	probably damaging	Het
Smg5	T	A	3: 88,361,071	V1006D	probably damaging	Het
Ssh2	T	C	11: 77,393,073	V51A	probably damaging	Het
St14	T	C	9: 31,096,899	K547E	probably benign	Het
Stag1	T	G	9: 100,796,728	V234G	probably damaging	Het
Stag3	A	T	5: 138,281,945	Q24L	probably benign	Het
Tcstv1	A	T	13: 119,894,130		probably null	Het
Tmem196	G	A	12: 120,011,267	C62Y	probably damaging	Het
Tmem265	T	A	7: 127,564,867	F84L		Het
Tph1	C	T	7: 46,657,203		probably null	Het
Ttn	A	G	2: 76,946,490	I1522T	unknown	Het
Ulk4	T	A	9: 121,255,112	Q129L	probably benign	Het
Usp17la	T	A	7: 104,861,585	S466T	probably benign	Het
Vmn2r31	A	T	7: 7,384,745	V609E	probably damaging	Het
Vmn2r52	C	T	7: 10,170,817	C365Y	probably benign	Het
Zbtb4	A	T	11: 69,776,111	T81S	possibly damaging	Het
Zfp605	A	T	5: 110,112,019		probably benign	Het

Other mutations in Stra6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Stra6	APN	9	58152571	missense	probably benign	0.01
IGL01885:Stra6	APN	9	58141148	missense	probably damaging	1.00
IGL02219:Stra6	APN	9	58140469	missense	probably benign	0.18
IGL02550:Stra6	APN	9	58150083	missense	possibly damaging	0.95
IGL02745:Stra6	APN	9	58152038	missense	probably damaging	1.00
IGL02999:Stra6	APN	9	58135113	missense	probably benign	0.19
R0034:Stra6	UTSW	9	58151469	splice site	probably null
R0070:Stra6	UTSW	9	58152615	splice site	probably benign
R0070:Stra6	UTSW	9	58152615	splice site	probably benign
R0281:Stra6	UTSW	9	58145489	missense	probably benign	0.11
R0387:Stra6	UTSW	9	58153183	missense	probably benign	0.13
R0879:Stra6	UTSW	9	58135204	critical splice donor site	probably null
R1075:Stra6	UTSW	9	58151404	missense	possibly damaging	0.79
R1605:Stra6	UTSW	9	58151883	missense	probably benign
R1840:Stra6	UTSW	9	58140530	missense	probably benign	0.00
R1896:Stra6	UTSW	9	58151883	missense	probably benign
R2149:Stra6	UTSW	9	58152539	missense	probably benign	0.01
R4016:Stra6	UTSW	9	58135190	missense	probably damaging	0.99
R4127:Stra6	UTSW	9	58151218	missense	probably damaging	1.00
R4243:Stra6	UTSW	9	58143026	missense	probably benign	0.06
R4631:Stra6	UTSW	9	58140832	intron	probably benign
R4671:Stra6	UTSW	9	58149234	missense	probably benign	0.01
R4688:Stra6	UTSW	9	58135076	critical splice acceptor site	probably null
R5091:Stra6	UTSW	9	58141146	missense	probably damaging	1.00
R6179:Stra6	UTSW	9	58135169	missense	probably damaging	1.00
R6486:Stra6	UTSW	9	58151422	frame shift	probably null
R6593:Stra6	UTSW	9	58151979	missense	probably benign	0.00
R7368:Stra6	UTSW	9	58151260	missense	probably benign	0.03
R7503:Stra6	UTSW	9	58151245	missense	possibly damaging	0.70
R7807:Stra6	UTSW	9	58150161	missense	probably damaging	0.97
R8099:Stra6	UTSW	9	58152494	missense	probably damaging	1.00
R8377:Stra6	UTSW	9	58149205	missense	probably damaging	1.00
R8780:Stra6	UTSW	9	58134971	intron	probably benign
R8817:Stra6	UTSW	9	58151982	missense	possibly damaging	0.94
R9117:Stra6	UTSW	9	58152539	missense	probably benign	0.01
R9495:Stra6	UTSW	9	58151892	missense	probably benign	0.03
R9582:Stra6	UTSW	9	58147487	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTAGGCTCTCACACACTGG -3'
(R):5'- TGAGGTTCCGAGAATGATGG -3'

Sequencing Primer
(F):5'- TGGAACAGCTGAGGGGCTTG -3'
(R):5'- TTCCGAGAATGATGGAGGAAAGC -3'

Posted On

2019-09-13