Incidental Mutation 'R3418:Or3a4'
ID 266919
Institutional Source Beutler Lab
Gene Symbol Or3a4
Ensembl Gene ENSMUSG00000043692
Gene Name olfactory receptor family 3 subfamily A member 4
Synonyms GA_x6K02T2P1NL-4211516-4210581, MOR255-1, Olfr399
MMRRC Submission 040636-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R3418 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 73944602-73945604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73944814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 257 (T257I)
Ref Sequence ENSEMBL: ENSMUSP00000149917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059440] [ENSMUST00000206280] [ENSMUST00000215915]
AlphaFold Q7TRX3
Predicted Effect probably damaging
Transcript: ENSMUST00000059440
AA Change: T257I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056508
Gene: ENSMUSG00000043692
AA Change: T257I

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 9.9e-55 PFAM
Pfam:7tm_1 44 293 1.4e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125093
Predicted Effect probably benign
Transcript: ENSMUST00000206280
Predicted Effect probably damaging
Transcript: ENSMUST00000215915
AA Change: T257I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (61/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A G 6: 133,271,082 (GRCm39) Q42R probably benign Het
Acaa1a A G 9: 119,178,556 (GRCm39) probably null Het
Agbl5 T C 5: 31,062,067 (GRCm39) S756P probably damaging Het
Armc9 T C 1: 86,122,060 (GRCm39) L395P probably damaging Het
Cdc16 C T 8: 13,819,489 (GRCm39) Q362* probably null Het
Cdh5 C T 8: 104,856,002 (GRCm39) R312C probably damaging Het
Cep170b C T 12: 112,704,902 (GRCm39) Q887* probably null Het
Chd9 T C 8: 91,763,219 (GRCm39) I2348T probably damaging Het
Clec9a A G 6: 129,398,001 (GRCm39) probably benign Het
Col6a3 T C 1: 90,731,813 (GRCm39) D873G probably benign Het
D130040H23Rik T C 8: 69,755,579 (GRCm39) I328T probably benign Het
Dido1 G T 2: 180,302,728 (GRCm39) D1725E possibly damaging Het
Dnajb14 A G 3: 137,598,631 (GRCm39) D123G probably null Het
Dock2 A T 11: 34,580,587 (GRCm39) M661K probably damaging Het
Esam C T 9: 37,448,426 (GRCm39) probably null Het
Fam20c A T 5: 138,743,623 (GRCm39) N220Y probably damaging Het
Fat2 G T 11: 55,169,824 (GRCm39) H2978Q probably benign Het
Fbn1 T C 2: 125,162,846 (GRCm39) T2147A possibly damaging Het
Fdft1 T C 14: 63,394,070 (GRCm39) T214A probably damaging Het
Fhl5 T C 4: 25,211,252 (GRCm39) S147G probably benign Het
Flrt2 A G 12: 95,747,378 (GRCm39) Y572C probably damaging Het
Gcat A T 15: 78,926,297 (GRCm39) T56S possibly damaging Het
Gemin5 A T 11: 58,047,454 (GRCm39) probably null Het
Gm4736 A T 6: 132,092,640 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,820,108 (GRCm39) N368S probably benign Het
Gsto1 T C 19: 47,846,344 (GRCm39) F64L probably benign Het
Gucy1a1 A G 3: 82,013,440 (GRCm39) S401P probably damaging Het
Htr1f G A 16: 64,746,260 (GRCm39) P344L probably damaging Het
Ighv7-3 T A 12: 114,116,919 (GRCm39) Y81F probably damaging Het
Jakmip3 C A 7: 138,619,474 (GRCm39) probably benign Het
Kcnj13 T C 1: 87,314,641 (GRCm39) T194A probably benign Het
Khdrbs3 T C 15: 68,921,224 (GRCm39) probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lyn A T 4: 3,746,833 (GRCm39) I204F probably damaging Het
Mbd6 C G 10: 127,122,372 (GRCm39) R152P probably null Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Myom2 T G 8: 15,135,294 (GRCm39) I499S probably benign Het
Nos2 T A 11: 78,850,521 (GRCm39) F1126L possibly damaging Het
P2ry1 T C 3: 60,911,133 (GRCm39) F91L probably damaging Het
Pcdh15 C A 10: 74,420,054 (GRCm39) D1166E probably benign Het
Pou6f1 C A 15: 100,478,805 (GRCm39) V368L probably benign Het
Ptcd3 A T 6: 71,860,470 (GRCm39) I579K possibly damaging Het
Rbm45 A G 2: 76,209,362 (GRCm39) E392G probably damaging Het
Rnf168 A G 16: 32,118,010 (GRCm39) N524D probably benign Het
Rnf222 G T 11: 68,783,982 (GRCm39) R183L probably damaging Het
Robo1 C T 16: 72,832,805 (GRCm39) T1526I probably benign Het
Sel1l A G 12: 91,776,776 (GRCm39) W689R probably damaging Het
Serpinb13 T C 1: 106,926,657 (GRCm39) S218P probably damaging Het
Serpini1 A G 3: 75,547,589 (GRCm39) Y367C probably damaging Het
Slc13a2 A G 11: 78,291,666 (GRCm39) F329S probably benign Het
Smc2 T C 4: 52,476,850 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,446 (GRCm39) probably benign Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tdrd1 T A 19: 56,819,663 (GRCm39) N54K possibly damaging Het
Tgfbr2 T C 9: 115,958,901 (GRCm39) Y146C probably damaging Het
Tnfrsf11a A G 1: 105,737,130 (GRCm39) D79G possibly damaging Het
Trpa1 T C 1: 14,944,605 (GRCm39) I1046M probably benign Het
Ubn1 A G 16: 4,892,243 (GRCm39) probably benign Het
Ubp1 T C 9: 113,780,754 (GRCm39) probably null Het
Vmn2r2 A T 3: 64,024,320 (GRCm39) F754I probably benign Het
Other mutations in Or3a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Or3a4 APN 11 73,945,301 (GRCm39) missense probably benign 0.41
R1344:Or3a4 UTSW 11 73,945,038 (GRCm39) nonsense probably null
R1496:Or3a4 UTSW 11 73,944,650 (GRCm39) makesense probably null
R1708:Or3a4 UTSW 11 73,944,814 (GRCm39) missense probably damaging 0.99
R1911:Or3a4 UTSW 11 73,945,210 (GRCm39) missense probably damaging 0.99
R2056:Or3a4 UTSW 11 73,944,819 (GRCm39) nonsense probably null
R5444:Or3a4 UTSW 11 73,944,803 (GRCm39) missense probably benign 0.19
R5470:Or3a4 UTSW 11 73,944,733 (GRCm39) missense possibly damaging 0.90
R6150:Or3a4 UTSW 11 73,945,145 (GRCm39) missense probably benign 0.03
R6442:Or3a4 UTSW 11 73,945,505 (GRCm39) missense probably benign 0.00
R6687:Or3a4 UTSW 11 73,945,210 (GRCm39) missense probably damaging 0.99
R7195:Or3a4 UTSW 11 73,945,223 (GRCm39) missense probably damaging 1.00
R7942:Or3a4 UTSW 11 73,945,054 (GRCm39) missense probably damaging 1.00
R7957:Or3a4 UTSW 11 73,944,982 (GRCm39) missense probably damaging 1.00
R8052:Or3a4 UTSW 11 73,945,301 (GRCm39) missense probably benign 0.41
R8190:Or3a4 UTSW 11 73,945,305 (GRCm39) missense probably benign 0.01
R9316:Or3a4 UTSW 11 73,944,892 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTCTGACATTGGTTAAGGCC -3'
(R):5'- TCCAACTCAATGAGCAGCTGC -3'

Sequencing Primer
(F):5'- AAAGAGTGTCATTAGTGGGCTACCTC -3'
(R):5'- GCTCTTTGTAGCAGCAGCC -3'
Posted On 2015-02-18