Mutagenetix > Incidental Mutation

Incidental Mutation 'R7503:Stra6'

581628

Institutional Source

Beutler Lab

Gene Symbol

Stra6

Ensembl Gene

ENSMUSG00000032327

Gene Name

stimulated by retinoic acid gene 6

Synonyms

MMRRC Submission

045576-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7503 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57971071-58061279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58058528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 463 (N463S)

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

possibly damaging
Transcript: ENSMUST00000034880
AA Change: N463S

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327
AA Change: N463S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085677
AA Change: N463S

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327
AA Change: N463S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167479
AA Change: N463S

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327
AA Change: N463S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170397
AA Change: N463S

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327
AA Change: N463S

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

Meta Mutation Damage Score

0.1927

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	G	A	8: 12,329,554 (GRCm39)	G3D	unknown	Het
Aif1	A	T	17: 35,390,549 (GRCm39)	I67N	probably damaging	Het
Akap11	T	C	14: 78,749,441 (GRCm39)	D982G		Het
Anpep	A	G	7: 79,476,385 (GRCm39)	L827P	probably damaging	Het
Arhgef5	A	T	6: 43,250,933 (GRCm39)	K561N	probably benign	Het
Arsj	T	C	3: 126,158,493 (GRCm39)	F24S	probably benign	Het
Bard1	T	C	1: 71,069,995 (GRCm39)	D661G	probably damaging	Het
Cc2d2b	A	G	19: 40,783,056 (GRCm39)	I618V	unknown	Het
Cfap251	G	T	5: 123,435,521 (GRCm39)	E994*	probably null	Het
Cfap54	T	A	10: 92,723,298 (GRCm39)		probably null	Het
Cfhr2	T	A	1: 139,758,952 (GRCm39)	I33F	probably damaging	Het
Dsc1	G	A	18: 20,218,922 (GRCm39)	H827Y	probably damaging	Het
Eif3i	C	T	4: 129,494,207 (GRCm39)	D31N	probably damaging	Het
Eno1b	A	T	18: 48,179,878 (GRCm39)	T19S	probably damaging	Het
Eva1a	G	A	6: 82,048,210 (GRCm39)	W29*	probably null	Het
Evc	T	C	5: 37,458,111 (GRCm39)	K803R	unknown	Het
F5	T	A	1: 164,019,779 (GRCm39)	N751K	probably damaging	Het
Fam120a	A	T	13: 49,102,723 (GRCm39)	N177K	probably benign	Het
Farp2	T	G	1: 93,495,219 (GRCm39)	I164R	probably benign	Het
Gm20379	C	T	13: 92,442,565 (GRCm39)	P26L		Het
Hmgcs2	T	C	3: 98,209,940 (GRCm39)	S433P	probably damaging	Het
Inava	T	C	1: 136,143,675 (GRCm39)	D587G	possibly damaging	Het
Ints2	T	C	11: 86,122,881 (GRCm39)	T633A	probably benign	Het
Invs	C	T	4: 48,396,347 (GRCm39)	T340M	probably damaging	Het
Mef2c	A	C	13: 83,810,623 (GRCm39)	D391A	possibly damaging	Het
Msh4	A	C	3: 153,573,387 (GRCm39)	S756A	probably damaging	Het
Mylk3	T	C	8: 86,080,218 (GRCm39)	T490A	probably benign	Het
Myo1b	A	T	1: 51,815,761 (GRCm39)		probably null	Het
Nsmce1	A	G	7: 125,071,106 (GRCm39)	S107P	probably benign	Het
Or52a24	T	A	7: 103,381,474 (GRCm39)	S114T	probably damaging	Het
Or5d43	T	C	2: 88,105,039 (GRCm39)	Y118C	probably damaging	Het
Pcdhb21	G	A	18: 37,648,028 (GRCm39)	D386N	probably benign	Het
Pcdhb22	T	G	18: 37,652,155 (GRCm39)	L208V	probably benign	Het
Pigu	C	T	2: 155,173,064 (GRCm39)		probably null	Het
Plcz1	T	A	6: 139,936,474 (GRCm39)	E585V	probably damaging	Het
Pnpla7	C	A	2: 24,873,544 (GRCm39)	C183*	probably null	Het
Pomgnt1	T	C	4: 116,009,949 (GRCm39)	V133A	possibly damaging	Het
Prl3d3	A	G	13: 27,345,096 (GRCm39)	Y156C	probably benign	Het
Prpf39	A	G	12: 65,100,167 (GRCm39)	D280G	probably benign	Het
Recql5	C	A	11: 115,785,881 (GRCm39)	A631S	probably benign	Het
Runx3	C	A	4: 134,882,679 (GRCm39)	N138K	probably damaging	Het
Scaper	T	C	9: 55,715,038 (GRCm39)	D750G	probably damaging	Het
Slc16a3	T	C	11: 120,847,853 (GRCm39)	L347P	probably damaging	Het
Slc25a1	G	T	16: 17,744,303 (GRCm39)	Y209*	probably null	Het
Smad2	A	G	18: 76,419,956 (GRCm39)	S88G	probably benign	Het
Sorcs1	A	G	19: 50,141,490 (GRCm39)	C1125R	probably benign	Het
Spata21	T	A	4: 140,822,614 (GRCm39)	I140N	probably benign	Het
Speer3	A	T	5: 13,843,348 (GRCm39)	D85V	probably benign	Het
Spopfm1	A	T	3: 94,173,780 (GRCm39)	M259L	probably benign	Het
Tmem14a	T	G	1: 21,299,623 (GRCm39)		probably null	Het
Tsc1	T	A	2: 28,577,088 (GRCm39)	L1130Q	possibly damaging	Het
Ttn	T	C	2: 76,611,401 (GRCm39)	D17377G	possibly damaging	Het
Utf1	A	G	7: 139,524,046 (GRCm39)	D87G	probably damaging	Het
Vmn2r6	G	A	3: 64,447,372 (GRCm39)	Q565*	probably null	Het
Vmn2r63	A	T	7: 42,583,014 (GRCm39)	M67K	probably benign	Het
Vmn2r90	T	C	17: 17,933,510 (GRCm39)	Y357H	not run	Het
Vmn2r97	A	G	17: 19,148,470 (GRCm39)	T122A	probably benign	Het
Wdhd1	T	C	14: 47,488,248 (GRCm39)	E753G	probably benign	Het
Wdr11	A	G	7: 129,204,834 (GRCm39)	N213S	probably benign	Het
Xdh	A	C	17: 74,233,205 (GRCm39)	D207E	probably damaging	Het
Zfp281	T	A	1: 136,554,678 (GRCm39)	I552N	possibly damaging	Het
Zzef1	T	A	11: 72,716,893 (GRCm39)	I361K	probably damaging	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
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
R8377:Stra6	UTSW	9	58,056,488 (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'- GCATAGAAACCCTTGGCTTCC -3'
(R):5'- AAACTCAGGGACCATCTTACCG -3'

Sequencing Primer
(F):5'- ATAGAAACCCTTGGCTTCCTTGAG -3'
(R):5'- TCCTCAGGAAGATCCAGTTGG -3'

Posted On

2019-10-17