Incidental Mutation 'R4636:Or4a76'
ID 350726
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4636 (G1)
Quality Score 225
Status Not 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apcs T C 1: 172,721,989 (GRCm39) E119G probably damaging Het
Arhgef5 A G 6: 43,251,876 (GRCm39) T876A probably benign Het
Arih2 A T 9: 108,491,013 (GRCm39) C227S probably damaging Het
Bsn A T 9: 107,992,623 (GRCm39) L1043Q probably damaging Het
Cyp2d34 G C 15: 82,504,929 (GRCm39) P44A probably damaging Het
Ddx59 T A 1: 136,360,301 (GRCm39) N438K probably damaging Het
Esr2 A G 12: 76,170,098 (GRCm39) M447T possibly damaging Het
Fam131b A G 6: 42,297,914 (GRCm39) S92P probably damaging Het
Galnt9 A G 5: 110,763,365 (GRCm39) M457V probably damaging Het
Gorasp2 T A 2: 70,509,836 (GRCm39) Y166N probably damaging Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lrp2 T C 2: 69,266,983 (GRCm39) E4308G possibly damaging Het
Mrpl1 G T 5: 96,358,034 (GRCm39) V5L probably benign Het
Nifk T A 1: 118,257,217 (GRCm39) Y117N possibly damaging Het
Notch2 A G 3: 98,053,420 (GRCm39) K2028E probably benign Het
Prpf3 A G 3: 95,741,482 (GRCm39) F558S probably damaging Het
Rabgap1l T C 1: 160,169,660 (GRCm39) probably null Het
Rasa2 C T 9: 96,426,390 (GRCm39) D819N probably benign Het
Rbl1 T A 2: 157,009,340 (GRCm39) T732S possibly damaging Het
Slc14a2 A G 18: 78,239,007 (GRCm39) V204A possibly damaging Het
Ttn A C 2: 76,643,937 (GRCm39) L13097R probably damaging Het
Wdpcp A G 11: 21,661,568 (GRCm39) E280G probably benign Het
Znhit6 G T 3: 145,306,334 (GRCm39) V280L probably null Het
Znhit6 A G 3: 145,306,333 (GRCm39) silent 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
R4635: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'- GACTTAATGTTTTCTGCAGGAGC -3'
(R):5'- CATTGACCACTTTGGCTGTGAC -3'

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