Incidental Mutation 'IGL02894:Or4c31'
ID 363319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c31
Ensembl Gene ENSMUSG00000049372
Gene Name olfactory receptor family 4 subfamily C member 31
Synonyms MOR230-6, GA_x6K02T2Q125-49948903-49949814, Olfr1183
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL02894
Quality Score
Status
Chromosome 2
Chromosomal Location 88291686-88292597 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 88292070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 148 (Y148D)
Ref Sequence ENSEMBL: ENSMUSP00000154094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102618] [ENSMUST00000213115] [ENSMUST00000219871]
AlphaFold A0A2I3BQA3
Predicted Effect probably damaging
Transcript: ENSMUST00000102618
AA Change: Y129D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099678
Gene: ENSMUSG00000049372
AA Change: Y129D

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 1.1e-47 PFAM
Pfam:7TM_GPCR_Srsx 32 299 1.8e-5 PFAM
Pfam:7tm_1 38 284 1.5e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213115
AA Change: Y148D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000219871
AA Change: Y129D

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik T A 14: 33,776,817 (GRCm39) probably benign Het
Aurka T A 2: 172,208,868 (GRCm39) probably null Het
Cacna2d3 C T 14: 28,786,276 (GRCm39) probably null Het
Cdh12 A G 15: 21,586,380 (GRCm39) Y733C probably damaging Het
Cdon A T 9: 35,366,722 (GRCm39) E199D probably benign Het
Celsr2 A T 3: 108,302,526 (GRCm39) L558Q probably damaging Het
Clcnkb C A 4: 141,135,130 (GRCm39) R536L probably benign Het
Cyp3a11 G A 5: 145,805,836 (GRCm39) Q151* probably null Het
Dnah7a A T 1: 53,616,487 (GRCm39) V1158E probably benign Het
Dnah8 G T 17: 30,940,084 (GRCm39) E1677* probably null Het
Dock3 T C 9: 106,807,298 (GRCm39) N1343S probably benign Het
Dock6 T A 9: 21,723,111 (GRCm39) E1603D probably damaging Het
Fam91a1 C T 15: 58,315,080 (GRCm39) T589M probably benign Het
Fat2 T A 11: 55,147,479 (GRCm39) N3921I probably damaging Het
Gm10188 A G 1: 132,157,037 (GRCm39) probably benign Het
Grid2ip A G 5: 143,376,863 (GRCm39) E976G probably benign Het
Hapln3 G T 7: 78,771,521 (GRCm39) Q123K probably benign Het
Hnrnpul1 G A 7: 25,450,329 (GRCm39) P128S possibly damaging Het
Hsd3b1 T A 3: 98,760,245 (GRCm39) I249F possibly damaging Het
Kbtbd3 A T 9: 4,331,444 (GRCm39) H606L probably benign Het
Krt82 T C 15: 101,451,155 (GRCm39) Y418C probably damaging Het
Mcm3ap C A 10: 76,313,601 (GRCm39) A565E probably benign Het
Minar1 T G 9: 89,485,155 (GRCm39) I81L probably damaging Het
Naip2 A G 13: 100,297,505 (GRCm39) S844P probably damaging Het
Naip2 C T 13: 100,320,297 (GRCm39) V240I probably benign Het
Notch2 T A 3: 98,009,748 (GRCm39) C558* probably null Het
Npdc1 T A 2: 25,298,007 (GRCm39) H185Q probably benign Het
Or2a25 A T 6: 42,888,451 (GRCm39) probably benign Het
Or5d37 T C 2: 87,924,107 (GRCm39) I58V possibly damaging Het
Osbpl3 A T 6: 50,323,312 (GRCm39) I257N possibly damaging Het
Pkd1l2 T A 8: 117,740,630 (GRCm39) T2156S probably damaging Het
Ppp1r13b A G 12: 111,797,888 (GRCm39) probably benign Het
Ppp3ca C A 3: 136,503,573 (GRCm39) H49N probably damaging Het
Prrc2c A T 1: 162,505,626 (GRCm39) L1100I probably damaging Het
Ptpn21 A C 12: 98,655,891 (GRCm39) probably benign Het
Ptpn7 A T 1: 135,070,906 (GRCm39) M332L probably damaging Het
Ptprq T A 10: 107,503,285 (GRCm39) Q791L probably benign Het
Ptprz1 G A 6: 23,035,148 (GRCm39) R1966H probably damaging Het
Ralgapa1 T A 12: 55,763,854 (GRCm39) Q1404L possibly damaging Het
Reln C A 5: 22,090,546 (GRCm39) M3437I possibly damaging Het
S100a7l2 A T 3: 90,995,700 (GRCm39) F67L probably benign Het
Slc13a1 T C 6: 24,137,041 (GRCm39) probably benign Het
Slc4a11 T C 2: 130,529,075 (GRCm39) probably null Het
Slc9a2 A G 1: 40,802,762 (GRCm39) E604G probably benign Het
Sod3 T G 5: 52,525,348 (GRCm39) S16A possibly damaging Het
Taok3 A G 5: 117,401,678 (GRCm39) I650V probably benign Het
Uggt2 T C 14: 119,319,211 (GRCm39) I270M probably damaging Het
Ugt3a1 T A 15: 9,367,487 (GRCm39) I410N probably damaging Het
Ush2a G A 1: 188,184,043 (GRCm39) S1449N probably damaging Het
Usp29 A T 7: 6,964,633 (GRCm39) M159L probably benign Het
Vmn1r122 A T 7: 20,867,649 (GRCm39) F135L probably benign Het
Wdr11 T C 7: 129,232,890 (GRCm39) probably benign Het
Zc3h14 T A 12: 98,725,202 (GRCm39) probably null Het
Zfp955a A T 17: 33,461,426 (GRCm39) C235* probably null Het
Other mutations in Or4c31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Or4c31 APN 2 88,291,696 (GRCm39) missense probably benign
IGL01150:Or4c31 APN 2 88,292,419 (GRCm39) missense possibly damaging 0.93
R0382:Or4c31 UTSW 2 88,292,069 (GRCm39) missense possibly damaging 0.87
R0401:Or4c31 UTSW 2 88,292,269 (GRCm39) missense probably damaging 1.00
R0664:Or4c31 UTSW 2 88,292,515 (GRCm39) missense probably damaging 1.00
R1990:Or4c31 UTSW 2 88,291,686 (GRCm39) start codon destroyed probably null
R3122:Or4c31 UTSW 2 88,291,853 (GRCm39) missense probably damaging 0.99
R4596:Or4c31 UTSW 2 88,292,538 (GRCm39) missense probably benign 0.28
R7361:Or4c31 UTSW 2 88,291,836 (GRCm39) missense probably benign 0.28
R7469:Or4c31 UTSW 2 88,291,691 (GRCm39) missense probably benign
R7858:Or4c31 UTSW 2 88,292,056 (GRCm39) missense probably damaging 1.00
R8023:Or4c31 UTSW 2 88,292,022 (GRCm39) missense probably benign 0.04
R8147:Or4c31 UTSW 2 88,292,427 (GRCm39) missense possibly damaging 0.93
R9026:Or4c31 UTSW 2 88,292,196 (GRCm39) missense probably damaging 1.00
R9103:Or4c31 UTSW 2 88,291,942 (GRCm39) missense probably benign 0.02
Z1176:Or4c31 UTSW 2 88,292,458 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18