Incidental Mutation 'R6770:Or4a75'
ID 532114
Institutional Source Beutler Lab
Gene Symbol Or4a75
Ensembl Gene ENSMUSG00000111239
Gene Name olfactory receptor family 4 subfamily A member 75
Synonyms Olfr1248, GA_x6K02T2Q125-51059648-51058725, MOR231-10
MMRRC Submission 044886-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R6770 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89447512-89448589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89448206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 110 (V110A)
Ref Sequence ENSEMBL: ENSMUSP00000150117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111532] [ENSMUST00000216129] [ENSMUST00000216424]
AlphaFold A0A1L1SSZ5
Predicted Effect probably benign
Transcript: ENSMUST00000111532
SMART Domains Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.2e-48 PFAM
Pfam:7tm_1 39 285 1.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216129
AA Change: V110A

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216424
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adk A G 14: 21,284,982 (GRCm39) K102E probably damaging Het
Bach2 G A 4: 32,575,240 (GRCm39) V489I possibly damaging Het
Bin1 A G 18: 32,539,202 (GRCm39) E45G probably damaging Het
Btnl4 A G 17: 34,693,011 (GRCm39) Y135H probably benign Het
Btnl9 T C 11: 49,066,392 (GRCm39) probably null Het
Cdh10 A G 15: 18,985,308 (GRCm39) D324G probably benign Het
Cfi T C 3: 129,652,379 (GRCm39) S269P probably benign Het
Ctbp1 G A 5: 33,408,204 (GRCm39) Q243* probably null Het
Dnajc1 G T 2: 18,222,082 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo39 T G 11: 72,208,622 (GRCm39) S325A possibly damaging Het
Gbe1 T C 16: 70,198,726 (GRCm39) S140P probably damaging Het
Gbe1 T A 16: 70,111,153 (GRCm39) L38Q possibly damaging Het
Gm5114 T C 7: 39,057,967 (GRCm39) S551G possibly damaging Het
Ina C T 19: 47,003,366 (GRCm39) probably benign Het
Irs3 A G 5: 137,643,475 (GRCm39) V103A possibly damaging Het
Ldb2 T A 5: 44,826,738 (GRCm39) T66S probably damaging Het
Lrp4 C T 2: 91,327,648 (GRCm39) A1499V probably benign Het
Nde1 G A 16: 14,006,242 (GRCm39) V96I probably damaging Het
Nrap T C 19: 56,370,969 (GRCm39) probably null Het
Nrxn1 G T 17: 90,344,607 (GRCm39) N435K probably damaging Het
Obscn T C 11: 58,934,862 (GRCm39) D5256G possibly damaging Het
Or1e25 A G 11: 73,493,804 (GRCm39) T133A probably benign Het
Or52n20 T A 7: 104,320,725 (GRCm39) I272N probably damaging Het
Or8c14-ps1 T C 9: 38,101,479 (GRCm39) F153L possibly damaging Het
Otoa T A 7: 120,744,837 (GRCm39) M865K probably benign Het
Otud1 A G 2: 19,663,993 (GRCm39) E374G probably benign Het
Pigz T A 16: 31,764,568 (GRCm39) L542H probably damaging Het
Plekhg5 A G 4: 152,187,536 (GRCm39) T101A probably benign Het
Ppic A T 18: 53,544,657 (GRCm39) V51E probably benign Het
Ptpn14 G A 1: 189,564,970 (GRCm39) V186M probably damaging Het
Ryr2 T A 13: 11,753,348 (GRCm39) T1658S probably damaging Het
Scn7a T A 2: 66,559,528 (GRCm39) probably null Het
Siva1 G A 12: 112,614,358 (GRCm39) C73Y probably damaging Het
Slc4a1ap G A 5: 31,685,226 (GRCm39) probably null Het
Sltm A G 9: 70,492,059 (GRCm39) I683V unknown Het
Srgap2 A T 1: 131,226,248 (GRCm39) C22S probably benign Het
Stxbp1 C T 2: 32,709,901 (GRCm39) R64H probably benign Het
Suv39h2 T C 2: 3,473,588 (GRCm39) N114S possibly damaging Het
Tas2r136 T C 6: 132,754,345 (GRCm39) I261V probably benign Het
Trav14-2 A C 14: 53,878,629 (GRCm39) H76P probably damaging Het
Ttc28 T C 5: 111,434,006 (GRCm39) S2316P probably damaging Het
Ubr4 T C 4: 139,216,493 (GRCm39) I5141T unknown Het
Usp46 A G 5: 74,193,015 (GRCm39) V87A probably benign Het
Zfp423 T C 8: 88,508,445 (GRCm39) N612S probably damaging Het
Other mutations in Or4a75
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02871:Or4a75 APN 2 89,448,504 (GRCm39) missense probably benign 0.00
PIT4431001:Or4a75 UTSW 2 89,448,201 (GRCm39) missense probably benign 0.00
R0504:Or4a75 UTSW 2 89,448,438 (GRCm39) missense probably damaging 1.00
R0761:Or4a75 UTSW 2 89,448,179 (GRCm39) missense probably damaging 1.00
R2176:Or4a75 UTSW 2 89,447,924 (GRCm39) missense possibly damaging 0.54
R3722:Or4a75 UTSW 2 89,448,503 (GRCm39) missense possibly damaging 0.88
R4030:Or4a75 UTSW 2 89,448,207 (GRCm39) missense probably damaging 0.99
R4440:Or4a75 UTSW 2 89,448,512 (GRCm39) missense probably damaging 1.00
R4756:Or4a75 UTSW 2 89,447,814 (GRCm39) missense possibly damaging 0.86
R4981:Or4a75 UTSW 2 89,447,769 (GRCm39) missense probably damaging 1.00
R5678:Or4a75 UTSW 2 89,447,625 (GRCm39) missense probably benign
R6503:Or4a75 UTSW 2 89,447,922 (GRCm39) missense possibly damaging 0.76
R6569:Or4a75 UTSW 2 89,448,359 (GRCm39) missense possibly damaging 0.83
R7823:Or4a75 UTSW 2 89,447,613 (GRCm39) makesense probably null
R8423:Or4a75 UTSW 2 89,448,331 (GRCm39) missense probably damaging 1.00
R8438:Or4a75 UTSW 2 89,448,054 (GRCm39) missense possibly damaging 0.60
R9046:Or4a75 UTSW 2 89,448,496 (GRCm39) unclassified probably benign
RF008:Or4a75 UTSW 2 89,447,711 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- GGTCAATGACATTGGGTCCAC -3'
(R):5'- AACCTGCTCATTGTGGGGAC -3'

Sequencing Primer
(F):5'- TCAATGACATTGGGTCCACAAAAAG -3'
(R):5'- ACAGTGATTGCCAGCCC -3'
Posted On 2018-08-29