Incidental Mutation 'R7368:Stra6'
ID 571933
Institutional Source Beutler Lab
Gene Symbol Stra6
Ensembl Gene ENSMUSG00000032327
Gene Name stimulated by retinoic acid gene 6
Synonyms
MMRRC Submission 045452-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R7368 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 57971071-58061279 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58058543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 468 (R468Q)
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 benign
Transcript: ENSMUST00000034880
AA Change: R468Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327
AA Change: R468Q

DomainStartEndE-ValueType
Pfam:RBP_receptor 40 659 1.6e-253 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085677
AA Change: R468Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327
AA Change: R468Q

DomainStartEndE-ValueType
Pfam:RBP_receptor 41 658 1.9e-248 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167479
AA Change: R468Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327
AA Change: R468Q

DomainStartEndE-ValueType
Pfam:RBP_receptor 40 659 1.6e-253 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170397
AA Change: R468Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327
AA Change: R468Q

DomainStartEndE-ValueType
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 98% (61/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 A T 12: 84,659,639 (GRCm39) F153I possibly damaging Het
Adcy1 G A 11: 7,094,765 (GRCm39) V564I probably damaging Het
Apol9b T C 15: 77,620,134 (GRCm39) I310T possibly damaging Het
Arhgef28 C A 13: 98,133,370 (GRCm39) V366F probably benign Het
B020004C17Rik C T 14: 57,254,773 (GRCm39) T199I possibly damaging Het
Carmil2 C T 8: 106,417,467 (GRCm39) T575I possibly damaging Het
Catsper1 A T 19: 5,386,691 (GRCm39) Q308L unknown Het
Cpa2 T A 6: 30,551,989 (GRCm39) S239T probably damaging Het
Cyrib A T 15: 63,810,507 (GRCm39) probably null Het
Ddit3 G A 10: 127,131,776 (GRCm39) G108D probably damaging Het
Dnah3 T C 7: 119,628,239 (GRCm39) I1473V probably benign Het
Dscam A G 16: 96,445,131 (GRCm39) V1520A probably benign Het
Edc4 TAGTAGCAGCAGCAGTAGCAGCAGCAG TAGTAGCAGCAGCAG 8: 106,615,037 (GRCm39) probably benign Het
Ednrb T A 14: 104,057,453 (GRCm39) I370F probably benign Het
Ehd3 A G 17: 74,134,457 (GRCm39) E272G possibly damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Fkbp11 T C 15: 98,622,307 (GRCm39) K189E unknown Het
Frem1 T A 4: 82,884,381 (GRCm39) E1190D probably benign Het
Gabrg2 A C 11: 41,867,390 (GRCm39) Y76* probably null Het
Gm11437 T A 11: 84,058,298 (GRCm39) probably benign Het
Gm8947 C A 1: 151,068,847 (GRCm39) Q227K probably benign Het
Gm9195 A G 14: 72,717,496 (GRCm39) F279S probably damaging Het
Gpbp1l1 T C 4: 116,430,655 (GRCm39) I42T probably benign Het
Hdac5 A T 11: 102,088,207 (GRCm39) V939E probably null Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Kitl A T 10: 99,851,943 (GRCm39) I21F probably benign Het
Krt1 T C 15: 101,755,307 (GRCm39) D484G probably damaging Het
Larp1 C A 11: 57,938,904 (GRCm39) P527T probably damaging Het
Lrp5 A G 19: 3,670,085 (GRCm39) V673A possibly damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Mmp27 G A 9: 7,577,318 (GRCm39) V228M probably damaging Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo15a G T 11: 60,381,741 (GRCm39) probably null Het
Myt1 A G 2: 181,424,384 (GRCm39) K26E possibly damaging Het
Nek1 T A 8: 61,542,741 (GRCm39) I777N probably benign Het
Nlrc5 C T 8: 95,203,021 (GRCm39) R374* probably null Het
Nol8 T C 13: 49,814,695 (GRCm39) S268P probably benign Het
Nynrin T A 14: 56,107,968 (GRCm39) L1025Q probably damaging Het
Or8h9 A G 2: 86,789,602 (GRCm39) S67P probably damaging Het
Osbpl3 A T 6: 50,325,078 (GRCm39) L140H probably damaging Het
Pcnt T C 10: 76,235,835 (GRCm39) N1382S probably benign Het
Pef1 T A 4: 130,021,178 (GRCm39) L244* probably null Het
Phf11a T C 14: 59,518,174 (GRCm39) E191G probably benign Het
Polr3a A T 14: 24,517,144 (GRCm39) D702E probably damaging Het
Ptch1 C T 13: 63,659,798 (GRCm39) G1285D probably benign Het
Ptpn3 T C 4: 57,221,993 (GRCm39) D566G probably damaging Het
Pwp2 C T 10: 78,018,314 (GRCm39) G126R probably damaging Het
Scgb1b12 T C 7: 32,033,992 (GRCm39) I84T probably damaging Het
Sh2b1 A T 7: 126,067,685 (GRCm39) D618E possibly damaging Het
Slc35f5 T A 1: 125,512,256 (GRCm39) V352E probably damaging Het
Sppl2c A G 11: 104,078,430 (GRCm39) E410G probably damaging Het
St6galnac2 T C 11: 116,570,805 (GRCm39) Y261C probably damaging Het
Taf3 T C 2: 9,921,188 (GRCm39) H924R unknown Het
Tbx18 C A 9: 87,612,750 (GRCm39) V50L probably benign Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Unc45b C T 11: 82,833,321 (GRCm39) T845I probably benign Het
Usp15 T C 10: 123,032,798 (GRCm39) D8G possibly damaging Het
Vmn2r91 A G 17: 18,356,540 (GRCm39) I736V possibly damaging Het
Vps13c C A 9: 67,821,355 (GRCm39) D1288E probably benign Het
Zfp458 T A 13: 67,405,300 (GRCm39) M380L probably benign Het
Zfp638 A G 6: 83,906,437 (GRCm39) N201D possibly damaging Het
Other mutations in Stra6
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TAGCATAGAAACCCTTGGCTTCC -3'
(R):5'- AGGGACCATCTTACCGGTTG -3'

Sequencing Primer
(F):5'- ATAGAAACCCTTGGCTTCCTTGAG -3'
(R):5'- TATCCATGGTGAGTCCTCAGGAAG -3'
Posted On 2019-09-13