Incidental Mutation 'IGL02745:Stra6'
ID 306124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stra6
Ensembl Gene ENSMUSG00000032327
Gene Name stimulated by retinoic acid gene 6
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL02745
Quality Score
Status
Chromosome 9
Chromosomal Location 57971071-58061279 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58059321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 561 (D561E)
Ref Sequence ENSEMBL: ENSMUSP00000130232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034880] [ENSMUST00000041477] [ENSMUST00000085677] [ENSMUST00000167479] [ENSMUST00000168864] [ENSMUST00000170397]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034880
AA Change: D561E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327
AA Change: D561E

DomainStartEndE-ValueType
Pfam:RBP_receptor 40 659 1.6e-253 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041477
SMART Domains Protein: ENSMUSP00000045142
Gene: ENSMUSG00000037206

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
LRRNT 18 54 3.32e-1 SMART
LRR 50 72 1.49e1 SMART
LRR 73 96 5.26e0 SMART
LRR 97 120 1.86e1 SMART
LRR_TYP 121 144 5.81e-2 SMART
LRR_TYP 145 168 5.21e-4 SMART
LRRCT 180 230 2.42e-9 SMART
IGc2 248 334 9.78e-7 SMART
low complexity region 408 426 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000085677
AA Change: D561E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327
AA Change: D561E

DomainStartEndE-ValueType
Pfam:RBP_receptor 41 658 1.9e-248 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167479
AA Change: D561E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327
AA Change: D561E

DomainStartEndE-ValueType
Pfam:RBP_receptor 40 659 1.6e-253 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168864
SMART Domains Protein: ENSMUSP00000126963
Gene: ENSMUSG00000037206

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
LRRNT 18 54 3.32e-1 SMART
LRR 50 72 1.49e1 SMART
LRR 73 96 5.26e0 SMART
LRR 97 120 1.86e1 SMART
LRR_TYP 121 144 5.81e-2 SMART
LRR_TYP 145 168 5.21e-4 SMART
LRRCT 180 230 2.42e-9 SMART
IGc2 248 334 9.78e-7 SMART
low complexity region 408 426 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170397
AA Change: D561E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327
AA Change: D561E

DomainStartEndE-ValueType
Pfam:RBP_receptor 40 659 1.6e-253 PFAM
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,282 (GRCm39) E167G probably benign Het
Aldh1a1 A G 19: 20,614,028 (GRCm39) probably benign Het
Ankrd44 T C 1: 54,805,950 (GRCm39) H152R probably damaging Het
Bpifb4 T A 2: 153,789,141 (GRCm39) L316Q probably damaging Het
C2cd5 A T 6: 142,987,256 (GRCm39) L155I probably benign Het
Chrdl2 T A 7: 99,670,170 (GRCm39) C98S probably damaging Het
Clnk A G 5: 38,893,662 (GRCm39) S232P probably benign Het
Csf3 A G 11: 98,593,303 (GRCm39) D140G probably damaging Het
Dnah7b T A 1: 46,234,189 (GRCm39) probably benign Het
Fetub T C 16: 22,756,676 (GRCm39) V259A probably damaging Het
Gga2 G T 7: 121,607,592 (GRCm39) R108S probably damaging Het
Hip1r C A 5: 124,129,002 (GRCm39) probably null Het
Hsd17b3 A G 13: 64,234,990 (GRCm39) F62L probably benign Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Man1a C T 10: 53,853,206 (GRCm39) R304Q probably damaging Het
Med17 A G 9: 15,176,642 (GRCm39) probably benign Het
Mrgprb4 T C 7: 47,848,106 (GRCm39) Y274C probably damaging Het
Myh8 C T 11: 67,188,327 (GRCm39) T996I possibly damaging Het
Niban3 G T 8: 72,057,682 (GRCm39) probably null Het
Nlrp4e T A 7: 23,020,716 (GRCm39) L401Q probably damaging Het
Oas1h G A 5: 120,999,542 (GRCm39) R9Q probably benign Het
Or4c111 A G 2: 88,844,232 (GRCm39) Y59H probably damaging Het
Or4d10b C T 19: 12,036,565 (GRCm39) V184I probably benign Het
Or8g51 T C 9: 38,609,494 (GRCm39) H56R probably damaging Het
Otor A G 2: 142,923,076 (GRCm39) D122G possibly damaging Het
Pcdh18 T A 3: 49,710,340 (GRCm39) Q325L probably damaging Het
Ppfibp1 T C 6: 146,923,852 (GRCm39) probably benign Het
Pramel16 A T 4: 143,677,294 (GRCm39) L95Q probably damaging Het
Prlr T A 15: 10,328,680 (GRCm39) I385N possibly damaging Het
Rap1gds1 A G 3: 138,662,002 (GRCm39) V418A probably damaging Het
Rdh1 A T 10: 127,601,288 (GRCm39) T279S probably benign Het
Slc17a3 C A 13: 24,026,469 (GRCm39) Q13K probably benign Het
Slc22a20 T C 19: 6,022,901 (GRCm39) N414S probably damaging Het
Slc4a1 C A 11: 102,247,093 (GRCm39) C498F probably damaging Het
Sp8 G A 12: 118,813,326 (GRCm39) G394S probably damaging Het
Ssh2 C T 11: 77,346,233 (GRCm39) T1406I probably damaging Het
Stxbp5l G A 16: 37,007,016 (GRCm39) Q726* probably null Het
Synpo2 G A 3: 122,907,261 (GRCm39) T685I probably damaging Het
Tasor2 A T 13: 3,635,140 (GRCm39) S556T probably benign Het
Ttc27 A G 17: 75,046,728 (GRCm39) D263G probably benign Het
Ttn G A 2: 76,594,332 (GRCm39) P18793S possibly damaging Het
Vmn2r109 A G 17: 20,761,512 (GRCm39) V615A probably damaging Het
Vmn2r76 T G 7: 85,879,495 (GRCm39) K268N probably benign Het
Zeb2 A G 2: 44,884,487 (GRCm39) probably benign Het
Zfp286 C A 11: 62,671,700 (GRCm39) K124N probably 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
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
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
Posted On 2015-04-16