Mutagenetix > Incidental Mutation

Incidental Mutation 'R8377:Stra6'

646758

Institutional Source

Beutler Lab

Gene Symbol

Stra6

Ensembl Gene

ENSMUSG00000032327

Gene Name

stimulated by retinoic acid gene 6

Synonyms

MMRRC Submission

067745-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8377 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57971071-58061279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58056488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 373 (L373F)

Ref Sequence

ENSEMBL: ENSMUSP00000034880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034880] [ENSMUST00000085677] [ENSMUST00000167479] [ENSMUST00000170397]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034880
AA Change: L373F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327
AA Change: L373F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000085677
AA Change: L373F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327
AA Change: L373F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167479
AA Change: L373F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327
AA Change: L373F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170397
AA Change: L373F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327
AA Change: L373F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot3	C	A	12: 84,105,561 (GRCm39)	C251*	probably null	Het
Acsbg1	A	G	9: 54,529,789 (GRCm39)	C273R	probably damaging	Het
Adh6a	A	G	3: 138,031,884 (GRCm39)	T259A	probably damaging	Het
Aknad1	A	G	3: 108,689,255 (GRCm39)	H639R	possibly damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Ampd3	A	G	7: 110,399,937 (GRCm39)	R342G	probably damaging	Het
Arid5b	G	T	10: 67,933,217 (GRCm39)	A895E	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
Bmp8a	G	T	4: 123,236,482 (GRCm39)	P7Q	unknown	Het
Boll	A	C	1: 55,362,837 (GRCm39)	V187G	possibly damaging	Het
Ccdc162	A	T	10: 41,457,306 (GRCm39)	C1544S	probably benign	Het
Cmss1	A	C	16: 57,127,757 (GRCm39)	M182R	possibly damaging	Het
Cntn3	T	C	6: 102,186,254 (GRCm39)	M578V	probably benign	Het
Dmxl2	A	T	9: 54,286,032 (GRCm39)	W2718R	probably damaging	Het
Dsg1a	T	A	18: 20,466,831 (GRCm39)	I567N	probably damaging	Het
Epc2	T	A	2: 49,412,527 (GRCm39)	D168E	probably damaging	Het
Ern2	G	A	7: 121,780,515 (GRCm39)	Q162*	probably null	Het
F11r	G	T	1: 171,265,111 (GRCm39)		probably benign	Het
Fcgrt	T	C	7: 44,751,987 (GRCm39)	Y59C	probably damaging	Het
Fmn2	G	T	1: 174,436,011 (GRCm39)	E661*	probably null	Het
Gbp4	T	A	5: 105,266,328 (GRCm39)	Q571L	probably benign	Het
Gm29106	A	T	1: 118,126,593 (GRCm39)	H95L	probably damaging	Het
Gphn	G	A	12: 78,711,280 (GRCm39)	V621M	probably damaging	Het
Grwd1	T	C	7: 45,480,036 (GRCm39)	Y57C	probably damaging	Het
Insyn2b	C	A	11: 34,351,964 (GRCm39)	A2D	probably damaging	Het
Irs2	G	A	8: 11,054,848 (GRCm39)	Q1195*	probably null	Het
Itpr1	G	C	6: 108,487,699 (GRCm39)	C2375S	probably benign	Het
Kcnmb4	A	T	10: 116,282,290 (GRCm39)	Y136N	probably benign	Het
Matn2	C	T	15: 34,345,511 (GRCm39)	P173S	probably damaging	Het
Med17	A	C	9: 15,173,655 (GRCm39)	D606E	probably damaging	Het
Mpl	A	G	4: 118,301,254 (GRCm39)	V537A		Het
Mrpl1	C	G	5: 96,374,226 (GRCm39)	A167G	probably benign	Het
Mrpl21	T	C	19: 3,342,487 (GRCm39)	F206S	unknown	Het
Msh6	T	A	17: 88,292,598 (GRCm39)	M451K	probably damaging	Het
Myo10	T	C	15: 25,804,481 (GRCm39)	I1592T	possibly damaging	Het
Naip1	A	T	13: 100,562,374 (GRCm39)	D930E	possibly damaging	Het
Necap2	T	C	4: 140,795,534 (GRCm39)	I242V	probably benign	Het
Nfya	A	G	17: 48,699,073 (GRCm39)	V240A	possibly damaging	Het
Olfml2b	A	G	1: 170,496,353 (GRCm39)	D328G	probably damaging	Het
Or10ak13	A	T	4: 118,639,203 (GRCm39)	M193K	probably benign	Het
Or4k35	T	A	2: 111,099,983 (GRCm39)	H243L	probably damaging	Het
Or5b24	T	G	19: 12,912,399 (GRCm39)	V99G	probably benign	Het
Or5p53	T	G	7: 107,532,892 (GRCm39)	L55R	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkd1l3	T	C	8: 110,361,982 (GRCm39)	V1018A	probably benign	Het
Plcg1	T	C	2: 160,596,842 (GRCm39)	L761P	probably damaging	Het
Ppp1r36	T	C	12: 76,485,215 (GRCm39)	S313P	possibly damaging	Het
Ptpru	C	A	4: 131,535,646 (GRCm39)	G444C	probably damaging	Het
Rfxank	A	T	8: 70,587,960 (GRCm39)	V149D	probably damaging	Het
Rimbp2	G	A	5: 128,857,395 (GRCm39)	H819Y	probably damaging	Het
Sgms1	T	C	19: 32,101,821 (GRCm39)	Y395C	probably damaging	Het
Siae	G	A	9: 37,542,901 (GRCm39)		probably null	Het
Slc46a2	T	A	4: 59,914,713 (GRCm39)	D70V	probably damaging	Het
Smpdl3a	A	C	10: 57,677,032 (GRCm39)	L43F	possibly damaging	Het
Spcs1	T	A	14: 30,722,103 (GRCm39)	D146V	possibly damaging	Het
Srcin1	T	C	11: 97,442,804 (GRCm39)	D8G	probably damaging	Het
Tacc1	A	T	8: 25,672,299 (GRCm39)	S310T	possibly damaging	Het
Tlr12	T	C	4: 128,509,566 (GRCm39)	S895G	probably benign	Het
Tnfaip3	A	G	10: 18,887,258 (GRCm39)	V89A	probably damaging	Het
Top1	C	T	2: 160,488,009 (GRCm39)		probably benign	Het
Trappc13	T	G	13: 104,297,509 (GRCm39)	I132L	probably benign	Het
Trpt1	C	T	19: 6,976,349 (GRCm39)	Q249*	probably null	Het
Tsnaxip1	A	C	8: 106,569,179 (GRCm39)	K510Q	probably damaging	Het
Usp39	A	T	6: 72,305,657 (GRCm39)	N375K	probably benign	Het
Vldlr	T	A	19: 27,212,258 (GRCm39)	C91S	probably damaging	Het
Vmn1r232	T	A	17: 21,134,239 (GRCm39)	L120F	probably benign	Het
Vmn2r71	T	C	7: 85,264,707 (GRCm39)	V13A	probably benign	Het
Wdr11	T	A	7: 129,208,412 (GRCm39)	V389E	possibly damaging	Het
Wsb2	A	T	5: 117,514,766 (GRCm39)	I321F	possibly damaging	Het
Zan	A	T	5: 137,389,949 (GRCm39)	V4841E	unknown	Het
Zfy1	A	T	Y: 725,723 (GRCm39)	F681I	possibly damaging	Het
Zpld1	C	A	16: 55,067,017 (GRCm39)	E179D	probably benign	Het

Other mutations in Stra6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Stra6	APN	9	58,059,854 (GRCm39)	missense	probably benign	0.01
IGL01885:Stra6	APN	9	58,048,431 (GRCm39)	missense	probably damaging	1.00
IGL02219:Stra6	APN	9	58,047,752 (GRCm39)	missense	probably benign	0.18
IGL02550:Stra6	APN	9	58,057,366 (GRCm39)	missense	possibly damaging	0.95
IGL02745:Stra6	APN	9	58,059,321 (GRCm39)	missense	probably damaging	1.00
IGL02999:Stra6	APN	9	58,042,396 (GRCm39)	missense	probably benign	0.19
R0034:Stra6	UTSW	9	58,058,752 (GRCm39)	splice site	probably null
R0070:Stra6	UTSW	9	58,059,898 (GRCm39)	splice site	probably benign
R0070:Stra6	UTSW	9	58,059,898 (GRCm39)	splice site	probably benign
R0281:Stra6	UTSW	9	58,052,772 (GRCm39)	missense	probably benign	0.11
R0387:Stra6	UTSW	9	58,060,466 (GRCm39)	missense	probably benign	0.13
R0879:Stra6	UTSW	9	58,042,487 (GRCm39)	critical splice donor site	probably null
R1075:Stra6	UTSW	9	58,058,687 (GRCm39)	missense	possibly damaging	0.79
R1605:Stra6	UTSW	9	58,059,166 (GRCm39)	missense	probably benign
R1840:Stra6	UTSW	9	58,047,813 (GRCm39)	missense	probably benign	0.00
R1896:Stra6	UTSW	9	58,059,166 (GRCm39)	missense	probably benign
R2149:Stra6	UTSW	9	58,059,822 (GRCm39)	missense	probably benign	0.01
R4016:Stra6	UTSW	9	58,042,473 (GRCm39)	missense	probably damaging	0.99
R4127:Stra6	UTSW	9	58,058,501 (GRCm39)	missense	probably damaging	1.00
R4243:Stra6	UTSW	9	58,050,309 (GRCm39)	missense	probably benign	0.06
R4631:Stra6	UTSW	9	58,048,115 (GRCm39)	intron	probably benign
R4671:Stra6	UTSW	9	58,056,517 (GRCm39)	missense	probably benign	0.01
R4688:Stra6	UTSW	9	58,042,359 (GRCm39)	critical splice acceptor site	probably null
R5091:Stra6	UTSW	9	58,048,429 (GRCm39)	missense	probably damaging	1.00
R6179:Stra6	UTSW	9	58,042,452 (GRCm39)	missense	probably damaging	1.00
R6486:Stra6	UTSW	9	58,058,705 (GRCm39)	frame shift	probably null
R6593:Stra6	UTSW	9	58,059,262 (GRCm39)	missense	probably benign	0.00
R7368:Stra6	UTSW	9	58,058,543 (GRCm39)	missense	probably benign	0.03
R7395:Stra6	UTSW	9	58,048,380 (GRCm39)	missense	probably damaging	1.00
R7503:Stra6	UTSW	9	58,058,528 (GRCm39)	missense	possibly damaging	0.70
R7807:Stra6	UTSW	9	58,057,444 (GRCm39)	missense	probably damaging	0.97
R8099:Stra6	UTSW	9	58,059,777 (GRCm39)	missense	probably damaging	1.00
R8780:Stra6	UTSW	9	58,042,254 (GRCm39)	intron	probably benign
R8817:Stra6	UTSW	9	58,059,265 (GRCm39)	missense	possibly damaging	0.94
R9117:Stra6	UTSW	9	58,059,822 (GRCm39)	missense	probably benign	0.01
R9495:Stra6	UTSW	9	58,059,175 (GRCm39)	missense	probably benign	0.03
R9582:Stra6	UTSW	9	58,054,770 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGTTACTGGCAGGATGGAGC -3'
(R):5'- AACCAGATGTGTCCCCATG -3'

Sequencing Primer
(F):5'- CCATAGACGATGCCAGGTCAGTG -3'
(R):5'- CAGGGCATGCATTCTGTGGC -3'

Posted On

2020-09-02