Incidental Mutation 'R8129:Or4a76'
ID 631880
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 067558-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R8129 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89460284-89461240 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 89460792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 150 (G150V)
Ref Sequence ENSEMBL: ENSMUSP00000149072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099769] [ENSMUST00000216124]
AlphaFold L7MU51
Predicted Effect probably damaging
Transcript: ENSMUST00000099769
AA Change: G150V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097357
Gene: ENSMUSG00000075079
AA Change: G150V

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 4.9e-47 PFAM
Pfam:7tm_1 39 285 1.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216124
AA Change: G150V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 85.2%
Validation Efficiency 98% (99/101)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,266,187 (GRCm39) D161G probably damaging Het
Adamts19 T C 18: 59,140,559 (GRCm39) probably null Het
Ahnak A T 19: 8,977,464 (GRCm39) M1L not run Het
Appl1 A G 14: 26,671,466 (GRCm39) S329P possibly damaging Het
Bach1 C T 16: 87,519,314 (GRCm39) R535W possibly damaging Het
Bicc1 T C 10: 70,915,033 (GRCm39) D77G probably benign Het
Bub1b T A 2: 118,468,975 (GRCm39) D913E probably benign Het
Cdhr2 G T 13: 54,864,208 (GRCm39) probably null Het
Col25a1 T C 3: 130,290,050 (GRCm39) S247P probably damaging Het
Commd8 T C 5: 72,320,164 (GRCm39) M126V unknown Het
Dpysl4 C T 7: 138,666,076 (GRCm39) T13M probably benign Het
Epc1 A G 18: 6,439,634 (GRCm39) V776A possibly damaging Het
Fancg G T 4: 43,005,036 (GRCm39) probably null Het
Fdx1 T C 9: 51,859,926 (GRCm39) T135A probably benign Het
Fgf7 T C 2: 125,877,765 (GRCm39) V44A probably benign Het
Fgfr3 A T 5: 33,891,250 (GRCm39) M523L probably damaging Het
Focad A T 4: 88,151,000 (GRCm39) H548L unknown Het
Ftsj3 C A 11: 106,144,657 (GRCm39) V111F probably benign Het
Gm28168 T A 1: 117,857,483 (GRCm39) D12E probably damaging Het
Gprin3 T C 6: 59,330,844 (GRCm39) T488A probably benign Het
Hormad2 C A 11: 4,296,648 (GRCm39) V279L probably benign Het
Hs6st1 A G 1: 36,108,105 (GRCm39) K123E probably damaging Het
Ice1 A G 13: 70,754,320 (GRCm39) S589P probably benign Het
Il1r1 T A 1: 40,341,447 (GRCm39) H286Q probably benign Het
Il1rl1 T A 1: 40,490,987 (GRCm39) C423S probably damaging Het
L1td1 A T 4: 98,621,563 (GRCm39) M42L probably benign Het
Large1 T C 8: 73,542,585 (GRCm39) D713G probably damaging Het
Llgl2 C A 11: 115,741,737 (GRCm39) probably null Het
Lrp2 C T 2: 69,260,624 (GRCm39) V4536M possibly damaging Het
Map3k19 A C 1: 127,750,420 (GRCm39) L977R possibly damaging Het
Myo15a A T 11: 60,399,026 (GRCm39) D1617V Het
Nek3 A G 8: 22,639,908 (GRCm39) I189T probably damaging Het
Nrap C T 19: 56,355,068 (GRCm39) probably null Het
Omd A C 13: 49,745,565 (GRCm39) D325A probably damaging Het
Or1x6 G A 11: 50,939,210 (GRCm39) R92K probably benign Het
Or52h7 A G 7: 104,213,584 (GRCm39) Y52C probably benign Het
Or5b118 A T 19: 13,448,508 (GRCm39) Y16F probably damaging Het
Pabpc6 C T 17: 9,887,427 (GRCm39) V375I possibly damaging Het
Pcdha5 A G 18: 37,094,832 (GRCm39) D447G probably damaging Het
Pla2r1 A T 2: 60,262,944 (GRCm39) W1032R probably damaging Het
Ppp2r5d T C 17: 46,995,263 (GRCm39) Y524C probably benign Het
Ppp4r3b T C 11: 29,159,364 (GRCm39) Y573H probably damaging Het
Prune2 T C 19: 17,096,200 (GRCm39) I568T probably benign Het
Ptpn22 G A 3: 103,797,600 (GRCm39) probably null Het
Rbm12b1 A G 4: 12,145,549 (GRCm39) D507G probably damaging Het
Rdh7 A G 10: 127,723,370 (GRCm39) S162P probably benign Het
Rreb1 C T 13: 38,113,775 (GRCm39) A378V probably benign Het
Scaf11 A G 15: 96,317,350 (GRCm39) F738S probably damaging Het
Sdk1 C A 5: 142,177,648 (GRCm39) N2031K probably benign Het
Serpina3c A T 12: 104,118,056 (GRCm39) L94Q probably damaging Het
Sgo2b T C 8: 64,381,834 (GRCm39) S333G possibly damaging Het
Slc22a15 A G 3: 101,822,658 (GRCm39) V88A possibly damaging Het
Smarcad1 G T 6: 65,044,078 (GRCm39) D217Y probably benign Het
Sppl2a A G 2: 126,765,390 (GRCm39) F244S probably damaging Het
Sspo G A 6: 48,443,959 (GRCm39) D2156N possibly damaging Het
Taf2 G A 15: 54,923,384 (GRCm39) R298C probably damaging Het
Tap2 C T 17: 34,424,672 (GRCm39) T135I probably benign Het
Tbx15 G T 3: 99,161,254 (GRCm39) V20F probably damaging Het
Tes A T 6: 17,065,242 (GRCm39) probably benign Het
Tmem39b A T 4: 129,572,468 (GRCm39) M378K probably damaging Het
Trim44 A G 2: 102,230,848 (GRCm39) V61A unknown Het
Ttll5 T C 12: 85,937,858 (GRCm39) probably null Het
Tubgcp4 C T 2: 121,004,109 (GRCm39) T50I possibly damaging Het
Txndc17 G A 11: 72,098,588 (GRCm39) V47M probably damaging Het
Ubp1 A G 9: 113,804,417 (GRCm39) E494G possibly damaging Het
Utp20 A T 10: 88,628,487 (GRCm39) S936T probably benign Het
Wdr64 A G 1: 175,603,154 (GRCm39) D585G probably damaging Het
Wdtc1 A T 4: 133,031,460 (GRCm39) probably null Het
Zfp292 A G 4: 34,807,386 (GRCm39) M1891T probably damaging Het
Zfp84 A C 7: 29,475,862 (GRCm39) I185L probably benign Het
Zmym4 A G 4: 126,808,956 (GRCm39) F364L 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
R4635: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
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'- GATGACTATGCACATTGCCCC -3'
(R):5'- CACACCCAAGTTGATAGTAGACTTG -3'

Sequencing Primer
(F):5'- GCCCCATTATTGCCAATGATAG -3'
(R):5'- CCCAAGTTGATAGTAGACTTGCTCTG -3'
Posted On 2020-06-30