Incidental Mutation 'R4635:Or4a76'
ID 349427
Institutional Source Beutler Lab
Gene Symbol Or4a76
Ensembl Gene ENSMUSG00000075079
Gene Name olfactory receptor family 4 subfamily A member 76
Synonyms Olfr1249, GA_x6K02T2Q125-51072323-51071367, MOR231-16P, Olfr1541-ps1, MOR231-17P, MOR231-25_p, MOR231-16P
MMRRC Submission 041899-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4635 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89460284-89461240 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89460516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 242 (I242S)
Ref Sequence ENSEMBL: ENSMUSP00000149072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099769] [ENSMUST00000216124]
AlphaFold L7MU51
Predicted Effect possibly damaging
Transcript: ENSMUST00000099769
AA Change: I242S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097357
Gene: ENSMUSG00000075079
AA Change: I242S

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 4.9e-47 PFAM
Pfam:7tm_1 39 285 1.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216124
AA Change: I242S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (39/40)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,764,927 (GRCm39) K639I probably benign Het
Amer3 C A 1: 34,626,958 (GRCm39) T399K probably damaging Het
Arfgef3 T C 10: 18,510,603 (GRCm39) Y786C probably damaging Het
Arhgef26 A G 3: 62,247,861 (GRCm39) Y315C probably damaging Het
Ccdc121 G A 5: 31,645,435 (GRCm39) R396Q probably benign Het
Chchd6 T C 6: 89,444,448 (GRCm39) E178G probably damaging Het
Chd3 TGCTGCCGCTGCCGC TGCTGCCGCTGCCGCTGCCGC 11: 69,253,013 (GRCm39) probably benign Het
Daam1 T A 12: 72,005,518 (GRCm39) probably null Het
Ddx60 A G 8: 62,490,101 (GRCm39) E1690G probably benign Het
Eme2 G T 17: 25,113,882 (GRCm39) P48T probably benign Het
Ferd3l T C 12: 33,978,835 (GRCm39) M116T probably damaging Het
Gm13141 GGTTTCTTGATGCCA G 4: 147,612,561 (GRCm39) noncoding transcript Het
Gtf2i T C 5: 134,274,028 (GRCm39) N727D probably damaging Het
Hao1 T A 2: 134,365,072 (GRCm39) N185I probably damaging Het
Kifap3 C T 1: 163,642,004 (GRCm39) T195I probably damaging Het
Mag A G 7: 30,606,348 (GRCm39) F363S probably damaging Het
Mef2a A G 7: 66,890,175 (GRCm39) I135T possibly damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Nphs1 T C 7: 30,167,432 (GRCm39) F787L probably benign Het
Nr1h2 A C 7: 44,201,961 (GRCm39) S42A probably benign Het
Odad4 C T 11: 100,442,333 (GRCm39) Q164* probably null Het
Or10ag2 T A 2: 87,249,043 (GRCm39) M217K probably benign Het
Or51aa2 T C 7: 103,188,355 (GRCm39) I29V probably benign Het
Or5ak23 T A 2: 85,245,208 (GRCm39) N5I probably damaging Het
Rab38 T C 7: 88,099,854 (GRCm39) V123A probably damaging Het
Scd1 T C 19: 44,395,024 (GRCm39) Y67C probably damaging Het
Scn5a T C 9: 119,358,051 (GRCm39) N730S possibly damaging Het
Shc2 C T 10: 79,462,120 (GRCm39) C341Y probably benign Het
Tfdp2 T A 9: 96,179,727 (GRCm39) N113K probably damaging Het
Tmc3 A G 7: 83,234,290 (GRCm39) probably benign Het
Top6bl A G 19: 4,748,524 (GRCm39) probably benign Het
Tox A T 4: 6,990,501 (GRCm39) probably benign Het
Tspoap1 A G 11: 87,668,683 (GRCm39) K1319E probably benign Het
Vit G A 17: 78,881,641 (GRCm39) V135I probably benign Het
Vwa5b1 T G 4: 138,338,150 (GRCm39) S71R possibly damaging Het
Other mutations in Or4a76
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Or4a76 APN 2 89,460,964 (GRCm39) nonsense probably null
IGL02127:Or4a76 APN 2 89,461,098 (GRCm39) missense probably damaging 0.97
IGL02555:Or4a76 APN 2 89,460,547 (GRCm39) missense probably damaging 0.99
IGL02645:Or4a76 APN 2 89,460,679 (GRCm39) missense probably benign 0.05
IGL03112:Or4a76 APN 2 89,460,678 (GRCm39) missense probably benign 0.11
BB008:Or4a76 UTSW 2 89,460,448 (GRCm39) missense possibly damaging 0.78
BB018:Or4a76 UTSW 2 89,460,448 (GRCm39) missense possibly damaging 0.78
R1460:Or4a76 UTSW 2 89,460,282 (GRCm39) splice site probably null
R1496:Or4a76 UTSW 2 89,460,358 (GRCm39) missense possibly damaging 0.96
R4634:Or4a76 UTSW 2 89,460,516 (GRCm39) missense possibly damaging 0.93
R4636:Or4a76 UTSW 2 89,460,516 (GRCm39) missense possibly damaging 0.93
R5668:Or4a76 UTSW 2 89,460,688 (GRCm39) missense probably damaging 1.00
R5787:Or4a76 UTSW 2 89,461,018 (GRCm39) missense probably benign 0.05
R5888:Or4a76 UTSW 2 89,461,143 (GRCm39) missense probably damaging 0.99
R6267:Or4a76 UTSW 2 89,460,975 (GRCm39) missense probably damaging 0.98
R6296:Or4a76 UTSW 2 89,460,975 (GRCm39) missense probably damaging 0.98
R7324:Or4a76 UTSW 2 89,460,447 (GRCm39) missense possibly damaging 0.78
R7421:Or4a76 UTSW 2 89,460,915 (GRCm39) missense probably damaging 0.98
R7459:Or4a76 UTSW 2 89,461,012 (GRCm39) missense probably damaging 1.00
R7931:Or4a76 UTSW 2 89,460,448 (GRCm39) missense possibly damaging 0.78
R8129:Or4a76 UTSW 2 89,460,792 (GRCm39) missense probably damaging 1.00
R8239:Or4a76 UTSW 2 89,460,907 (GRCm39) missense probably damaging 0.97
R9053:Or4a76 UTSW 2 89,461,161 (GRCm39) missense probably benign 0.01
R9339:Or4a76 UTSW 2 89,460,555 (GRCm39) missense probably damaging 1.00
R9408:Or4a76 UTSW 2 89,460,388 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTAATGTTTTCTGCAGGAGC -3'
(R):5'- TCATTGACCACTTTGGCTGTG -3'

Sequencing Primer
(F):5'- AATGTTTTCTGCAGGAGCTTTTC -3'
(R):5'- GACCACTTTGGCTGTGACATATAC -3'
Posted On 2015-10-08