Incidental Mutation 'IGL01340:Or4p8'
ID 74808
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4p8
Ensembl Gene ENSMUSG00000075114
Gene Name olfactory receptor family 4 subfamily P member 8
Synonyms MOR225-4, Olfr1208, GA_x6K02T2Q125-50372411-50371485
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL01340
Quality Score
Status
Chromosome 2
Chromosomal Location 88726918-88727992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88727321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 207 (T207A)
Ref Sequence ENSEMBL: ENSMUSP00000149695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099810] [ENSMUST00000214121] [ENSMUST00000214297]
AlphaFold Q8VG47
Predicted Effect probably damaging
Transcript: ENSMUST00000099810
AA Change: T207A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097398
Gene: ENSMUSG00000075114
AA Change: T207A

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 1.9e-48 PFAM
Pfam:7tm_1 38 284 2.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214121
AA Change: T207A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214297
AA Change: T207A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,021,453 (GRCm39) I1086L probably benign Het
Adam17 A T 12: 21,380,058 (GRCm39) C630* probably null Het
Adgrg5 T C 8: 95,664,257 (GRCm39) L289P probably damaging Het
Aplp1 G A 7: 30,143,843 (GRCm39) T64I probably damaging Het
Bdh1 T A 16: 31,275,661 (GRCm39) W261R probably damaging Het
Cadm2 A T 16: 66,581,672 (GRCm39) I202N possibly damaging Het
Cd209c C T 8: 3,995,892 (GRCm39) R6H probably benign Het
Cfap221 T A 1: 119,881,350 (GRCm39) I371F possibly damaging Het
Cfap44 A G 16: 44,224,493 (GRCm39) Y67C probably damaging Het
Cilp T C 9: 65,183,256 (GRCm39) S387P probably damaging Het
Cnot1 T C 8: 96,487,165 (GRCm39) D598G probably damaging Het
Col5a1 T C 2: 27,850,463 (GRCm39) L520P unknown Het
Cpvl A T 6: 53,873,436 (GRCm39) Y433* probably null Het
Cxcl1 G T 5: 91,039,434 (GRCm39) C59F probably damaging Het
Cyth3 T A 5: 143,670,190 (GRCm39) L33* probably null Het
Dnah2 T C 11: 69,384,010 (GRCm39) K1069E probably damaging Het
Drosha T A 15: 12,834,109 (GRCm39) probably benign Het
Fam83h T A 15: 75,875,885 (GRCm39) D484V probably damaging Het
Igsf3 C A 3: 101,346,995 (GRCm39) Y663* probably null Het
Kmt5c C T 7: 4,745,140 (GRCm39) R44* probably null Het
Kxd1 T C 8: 70,968,093 (GRCm39) probably null Het
Lars1 A G 18: 42,335,642 (GRCm39) V1158A probably benign Het
Lmf2 A G 15: 89,237,075 (GRCm39) F413S probably damaging Het
Mc4r C T 18: 66,992,229 (GRCm39) A295T probably benign Het
Mrc1 T C 2: 14,314,895 (GRCm39) probably null Het
Mtmr7 T C 8: 41,050,465 (GRCm39) Y110C probably damaging Het
Myd88 A C 9: 119,166,418 (GRCm39) probably benign Het
Ndc1 T C 4: 107,231,344 (GRCm39) V95A probably damaging Het
Ntrk1 T A 3: 87,696,021 (GRCm39) E163V possibly damaging Het
Pappa A T 4: 65,242,109 (GRCm39) D1491V possibly damaging Het
Phc3 T A 3: 30,984,033 (GRCm39) I673F possibly damaging Het
Pkhd1 A T 1: 20,593,201 (GRCm39) N1637K probably benign Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Rgma T C 7: 73,067,078 (GRCm39) F111S probably damaging Het
Slco1a6 A T 6: 142,055,109 (GRCm39) N278K possibly damaging Het
Slfn9 A T 11: 82,872,577 (GRCm39) F720I probably benign Het
Snd1 T A 6: 28,883,368 (GRCm39) V741E probably benign Het
Snx6 C T 12: 54,801,094 (GRCm39) R185Q probably damaging Het
Spata31g1 A C 4: 42,971,984 (GRCm39) E439A possibly damaging Het
Telo2 G A 17: 25,319,103 (GRCm39) probably benign Het
Wdr91 A G 6: 34,881,514 (GRCm39) S278P probably benign Het
Xab2 A T 8: 3,664,381 (GRCm39) D277E probably damaging Het
Zbbx T C 3: 75,012,957 (GRCm39) E158G possibly damaging Het
Other mutations in Or4p8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02132:Or4p8 APN 2 88,727,503 (GRCm39) missense probably benign
IGL02374:Or4p8 APN 2 88,727,803 (GRCm39) missense probably damaging 1.00
R1378:Or4p8 UTSW 2 88,727,370 (GRCm39) missense probably benign 0.01
R1570:Or4p8 UTSW 2 88,727,290 (GRCm39) missense probably damaging 1.00
R2056:Or4p8 UTSW 2 88,727,105 (GRCm39) missense probably damaging 1.00
R2092:Or4p8 UTSW 2 88,727,611 (GRCm39) missense probably damaging 0.99
R2185:Or4p8 UTSW 2 88,727,047 (GRCm39) missense probably damaging 0.99
R5223:Or4p8 UTSW 2 88,727,678 (GRCm39) missense probably benign 0.03
R5479:Or4p8 UTSW 2 88,727,035 (GRCm39) missense probably benign 0.13
R6463:Or4p8 UTSW 2 88,727,462 (GRCm39) missense probably benign 0.00
R6859:Or4p8 UTSW 2 88,727,278 (GRCm39) missense probably benign
R7347:Or4p8 UTSW 2 88,727,615 (GRCm39) missense possibly damaging 0.51
R7352:Or4p8 UTSW 2 88,727,062 (GRCm39) missense probably damaging 1.00
R7544:Or4p8 UTSW 2 88,727,705 (GRCm39) missense probably damaging 1.00
R7713:Or4p8 UTSW 2 88,728,122 (GRCm39) start gained probably benign
R7842:Or4p8 UTSW 2 88,727,305 (GRCm39) missense possibly damaging 0.89
R7869:Or4p8 UTSW 2 88,727,408 (GRCm39) missense probably benign 0.00
R8137:Or4p8 UTSW 2 88,727,013 (GRCm39) makesense probably null
R8168:Or4p8 UTSW 2 88,727,120 (GRCm39) missense probably benign 0.09
R8556:Or4p8 UTSW 2 88,727,382 (GRCm39) nonsense probably null
R8967:Or4p8 UTSW 2 88,727,844 (GRCm39) nonsense probably null
R9092:Or4p8 UTSW 2 88,727,321 (GRCm39) missense probably damaging 1.00
R9221:Or4p8 UTSW 2 88,727,255 (GRCm39) missense probably benign
Z1176:Or4p8 UTSW 2 88,727,405 (GRCm39) missense probably damaging 1.00
Z1177:Or4p8 UTSW 2 88,727,144 (GRCm39) nonsense probably null
Posted On 2013-10-07