Incidental Mutation 'R4596:Or4c31'
ID 344365
Institutional Source Beutler Lab
Gene Symbol Or4c31
Ensembl Gene ENSMUSG00000049372
Gene Name olfactory receptor family 4 subfamily C member 31
Synonyms MOR230-6, GA_x6K02T2Q125-49948903-49949814, Olfr1183
MMRRC Submission 041812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R4596 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88291686-88292597 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88292538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 304 (T304A)
Ref Sequence ENSEMBL: ENSMUSP00000154094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102618] [ENSMUST00000213115] [ENSMUST00000219871]
AlphaFold A0A2I3BQA3
Predicted Effect probably benign
Transcript: ENSMUST00000102618
AA Change: T285A

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099678
Gene: ENSMUSG00000049372
AA Change: T285A

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 benign
Transcript: ENSMUST00000213115
AA Change: T304A

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000219871
AA Change: T285A

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,088 (GRCm39) K429E probably benign Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Adad1 T C 3: 37,119,341 (GRCm39) S141P probably damaging Het
Anapc4 T C 5: 52,999,060 (GRCm39) V124A probably benign Het
Anxa6 G T 11: 54,885,409 (GRCm39) probably null Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Arhgef40 T C 14: 52,224,681 (GRCm39) probably null Het
Asz1 A T 6: 18,103,592 (GRCm39) I116K possibly damaging Het
Bcam T C 7: 19,498,082 (GRCm39) N314D probably damaging Het
Cfi T C 3: 129,662,149 (GRCm39) V376A probably damaging Het
Cipc A G 12: 87,008,728 (GRCm39) T196A probably benign Het
Cnksr1 A G 4: 133,961,189 (GRCm39) V225A possibly damaging Het
Col4a4 G A 1: 82,448,940 (GRCm39) P1217S unknown Het
Dync2h1 C T 9: 6,992,595 (GRCm39) D3996N probably benign Het
Fasl T C 1: 161,615,838 (GRCm39) N6S probably benign Het
Fhod3 A T 18: 25,248,775 (GRCm39) Q1318L probably benign Het
Gmps G T 3: 63,901,338 (GRCm39) E386* probably null Het
Hspa13 C T 16: 75,555,114 (GRCm39) G324D probably benign Het
Ift80 A G 3: 68,898,092 (GRCm39) V81A probably benign Het
Itgb1bp1 C A 12: 21,322,135 (GRCm39) L101F probably damaging Het
Jak3 T A 8: 72,137,275 (GRCm39) S779T probably damaging Het
Klhl21 G T 4: 152,096,997 (GRCm39) R421L probably benign Het
Mgat4c T C 10: 102,224,422 (GRCm39) F212S probably damaging Het
Msl3l2 T A 10: 55,991,741 (GRCm39) F155L probably benign Het
Nfat5 A G 8: 108,078,132 (GRCm39) K406E possibly damaging Het
Nsd2 A T 5: 34,040,262 (GRCm39) H933L probably damaging Het
Or51h5 A G 7: 102,577,458 (GRCm39) T208A possibly damaging Het
Or6f1 A T 7: 85,970,631 (GRCm39) H176Q probably damaging Het
Or9q2 G A 19: 13,772,264 (GRCm39) T237I probably damaging Het
Paxbp1 T C 16: 90,827,435 (GRCm39) I467V probably benign Het
Pcdha8 A C 18: 37,126,611 (GRCm39) Q364H possibly damaging Het
Prr14l T C 5: 32,986,652 (GRCm39) T948A probably benign Het
Ptgfr A T 3: 151,507,430 (GRCm39) V311D probably damaging Het
Ptpn13 A G 5: 103,671,558 (GRCm39) Y495C probably benign Het
Sec61g A T 11: 16,458,127 (GRCm39) S23T probably benign Het
Sema3a G T 5: 13,620,125 (GRCm39) V458F probably damaging Het
Slc16a14 T A 1: 84,907,078 (GRCm39) E65D probably damaging Het
Slc35f6 T C 5: 30,805,406 (GRCm39) M14T probably damaging Het
Slc4a10 A T 2: 62,127,202 (GRCm39) I882F probably damaging Het
Sox17 C A 1: 4,562,860 (GRCm39) E48D possibly damaging Het
Thbs1 A T 2: 117,945,236 (GRCm39) I270F possibly damaging Het
Tia1 A G 6: 86,397,389 (GRCm39) I121V probably benign Het
Trim30d A T 7: 104,121,733 (GRCm39) H337Q probably benign Het
Tvp23b G A 11: 62,774,544 (GRCm39) A63T probably benign Het
U2surp C T 9: 95,367,681 (GRCm39) V437I probably damaging Het
Ube2i T C 17: 25,484,298 (GRCm39) probably benign Het
Vmn1r62 A G 7: 5,678,306 (GRCm39) probably benign Het
Wdr3 G A 3: 100,060,183 (GRCm39) S310F possibly damaging Het
Wdr72 A T 9: 74,058,887 (GRCm39) M327L probably benign 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
IGL02894:Or4c31 APN 2 88,292,070 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGAAGACGAAAGGCCTTGTC -3'
(R):5'- GCAAGACAGTTAGGACTTCTAAGATC -3'

Sequencing Primer
(F):5'- GACGAAAGGCCTTGTCTACATGC -3'
(R):5'- TGTATAGGTGCACAACATGAAGTC -3'
Posted On 2015-09-25