Incidental Mutation 'IGL03253:Or4a70'
ID 414574
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4a70
Ensembl Gene ENSMUSG00000075085
Gene Name olfactory receptor family 4 subfamily A member 70
Synonyms GA_x6K02T2Q125-50937307-50936387, Olfr1242, MOR231-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL03253
Quality Score
Status
Chromosome 2
Chromosomal Location 89323638-89324690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89324143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 171 (V171A)
Ref Sequence ENSEMBL: ENSMUSP00000149368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099777] [ENSMUST00000111540] [ENSMUST00000143935] [ENSMUST00000216001]
AlphaFold Q8VGM6
Predicted Effect possibly damaging
Transcript: ENSMUST00000099777
AA Change: V171A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097365
Gene: ENSMUSG00000075085
AA Change: V171A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.8e-43 PFAM
Pfam:7TM_GPCR_Srsx 33 300 3.4e-5 PFAM
Pfam:7tm_1 39 285 1.6e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111540
AA Change: V171A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107165
Gene: ENSMUSG00000075085
AA Change: V171A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 33 300 3.4e-5 PFAM
Pfam:7tm_1 39 285 1.5e-26 PFAM
Pfam:7tm_4 137 278 5.3e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000143935
AA Change: V171A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216001
AA Change: V171A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,187,657 (GRCm39) V98I probably benign Het
Aadacl4 G T 4: 144,349,858 (GRCm39) V372L probably benign Het
Acp5 A T 9: 22,039,083 (GRCm39) I210N probably damaging Het
Ash1l G A 3: 88,891,981 (GRCm39) A1287T probably damaging Het
AU018091 A T 7: 3,214,002 (GRCm39) C72S probably damaging Het
Ccdc178 G A 18: 21,978,068 (GRCm39) Q800* probably null Het
Cd47 A T 16: 49,714,561 (GRCm39) H190L probably benign Het
Clca3a2 T A 3: 144,777,324 (GRCm39) H849L probably benign Het
Cmya5 G A 13: 93,227,778 (GRCm39) Q2437* probably null Het
Depdc5 T C 5: 33,026,157 (GRCm39) probably benign Het
Erp44 T A 4: 48,208,750 (GRCm39) I237F probably benign Het
Gramd1a C T 7: 30,839,271 (GRCm39) W8* probably null Het
Gucy2d C T 7: 98,100,871 (GRCm39) A398V probably benign Het
Hecw2 T C 1: 53,871,875 (GRCm39) E1357G possibly damaging Het
Ighv1-11 T C 12: 114,579,468 (GRCm39) probably benign Het
Itih3 A C 14: 30,633,880 (GRCm39) probably null Het
Kcnk5 A G 14: 20,192,405 (GRCm39) V252A probably benign Het
Kif14 A G 1: 136,415,198 (GRCm39) E771G probably damaging Het
Klc1 T C 12: 111,748,078 (GRCm39) probably benign Het
Myom3 A G 4: 135,510,408 (GRCm39) E567G possibly damaging Het
Pfpl A G 19: 12,407,393 (GRCm39) D548G probably damaging Het
Psma5-ps A G 10: 85,149,556 (GRCm39) noncoding transcript Het
Rad54l2 A G 9: 106,581,422 (GRCm39) V833A probably damaging Het
Scnn1g A T 7: 121,337,156 (GRCm39) K6* probably null Het
Sun1 T C 5: 139,209,341 (GRCm39) probably benign Het
Synj2 A G 17: 6,053,434 (GRCm39) probably null Het
Ttc1 T A 11: 43,629,650 (GRCm39) E172V probably benign Het
Ttn A G 2: 76,599,364 (GRCm39) V19215A probably damaging Het
Vwa3a A G 7: 120,378,092 (GRCm39) I461V probably benign Het
Wdr73 A G 7: 80,547,694 (GRCm39) M110T probably benign Het
Zfand4 A T 6: 116,261,770 (GRCm39) D111V probably damaging Het
Zscan4f T A 7: 11,135,270 (GRCm39) N225K probably benign Het
Other mutations in Or4a70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01094:Or4a70 APN 2 89,324,182 (GRCm39) missense probably benign 0.03
IGL01573:Or4a70 APN 2 89,324,545 (GRCm39) missense probably damaging 0.99
IGL02707:Or4a70 APN 2 89,324,171 (GRCm39) missense probably damaging 1.00
IGL02731:Or4a70 APN 2 89,323,801 (GRCm39) missense probably damaging 1.00
IGL03412:Or4a70 APN 2 89,324,555 (GRCm39) missense probably benign 0.02
R2012:Or4a70 UTSW 2 89,324,342 (GRCm39) missense probably benign 0.14
R5386:Or4a70 UTSW 2 89,324,481 (GRCm39) nonsense probably null
R5627:Or4a70 UTSW 2 89,324,388 (GRCm39) missense probably benign 0.03
R5735:Or4a70 UTSW 2 89,323,812 (GRCm39) missense probably damaging 1.00
R6216:Or4a70 UTSW 2 89,324,066 (GRCm39) missense probably damaging 1.00
R6787:Or4a70 UTSW 2 89,324,378 (GRCm39) nonsense probably null
R6898:Or4a70 UTSW 2 89,324,594 (GRCm39) missense possibly damaging 0.87
R7375:Or4a70 UTSW 2 89,324,036 (GRCm39) missense possibly damaging 0.86
R7481:Or4a70 UTSW 2 89,324,636 (GRCm39) missense probably benign 0.23
R8026:Or4a70 UTSW 2 89,324,132 (GRCm39) missense probably damaging 1.00
R8037:Or4a70 UTSW 2 89,324,055 (GRCm39) missense possibly damaging 0.95
R8694:Or4a70 UTSW 2 89,324,171 (GRCm39) missense possibly damaging 0.60
R9676:Or4a70 UTSW 2 89,323,780 (GRCm39) missense probably damaging 0.99
Z1177:Or4a70 UTSW 2 89,324,328 (GRCm39) missense possibly damaging 0.64
Posted On 2016-08-02