Incidental Mutation 'IGL02731:Or4a70'
ID 305464
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 # IGL02731
Quality Score
Status
Chromosome 2
Chromosomal Location 89323638-89324690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89323801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 285 (Y285C)
Ref Sequence ENSEMBL: ENSMUSP00000149368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099777] [ENSMUST00000111540] [ENSMUST00000143935] [ENSMUST00000216001]
AlphaFold Q8VGM6
Predicted Effect probably damaging
Transcript: ENSMUST00000099777
AA Change: Y285C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097365
Gene: ENSMUSG00000075085
AA Change: Y285C

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 probably damaging
Transcript: ENSMUST00000111540
AA Change: Y285C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107165
Gene: ENSMUSG00000075085
AA Change: Y285C

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 probably damaging
Transcript: ENSMUST00000143935
AA Change: Y285C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216001
AA Change: Y285C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 A T 11: 61,784,302 (GRCm39) D515E possibly damaging Het
Ankrd13b A T 11: 77,367,045 (GRCm39) S9R probably damaging Het
Ano9 G A 7: 140,687,117 (GRCm39) A374V probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cep78 T A 19: 15,933,670 (GRCm39) H636L probably benign Het
Chd2 A G 7: 73,143,204 (GRCm39) V563A probably damaging Het
Cndp1 G T 18: 84,650,083 (GRCm39) D203E probably damaging Het
Col16a1 G A 4: 129,947,323 (GRCm39) probably benign Het
Copa T C 1: 171,929,785 (GRCm39) V284A possibly damaging Het
Dlec1 A G 9: 118,976,188 (GRCm39) T1656A probably benign Het
Dop1a T C 9: 86,369,434 (GRCm39) I89T probably damaging Het
Eif2ak4 T C 2: 118,219,295 (GRCm39) S36P probably benign Het
Ep300 A T 15: 81,532,615 (GRCm39) I1618F unknown Het
Fan1 G A 7: 64,022,741 (GRCm39) L171F possibly damaging Het
Fancm A G 12: 65,135,079 (GRCm39) T291A probably benign Het
Gm14325 T C 2: 177,474,779 (GRCm39) K101R probably damaging Het
Hmx3 A T 7: 131,145,692 (GRCm39) probably null Het
Htt G T 5: 34,961,137 (GRCm39) V255L probably benign Het
L3mbtl3 C T 10: 26,220,074 (GRCm39) probably null Het
Lmbr1l A G 15: 98,815,777 (GRCm39) L9P probably damaging Het
Lyzl6 A T 11: 103,525,903 (GRCm39) Y72* probably null Het
Mib1 A G 18: 10,800,115 (GRCm39) E818G possibly damaging Het
Neb T C 2: 52,050,715 (GRCm39) T6405A probably damaging Het
Npas3 A G 12: 54,114,578 (GRCm39) D482G probably benign Het
Nuak2 C A 1: 132,244,095 (GRCm39) A43E probably damaging Het
Or10ag2 G A 2: 87,249,051 (GRCm39) V220I probably benign Het
Or4f4b A T 2: 111,313,873 (GRCm39) I33L probably benign Het
Or5an1 T C 19: 12,261,206 (GRCm39) S265P probably damaging Het
Pde11a C A 2: 75,821,583 (GRCm39) A899S probably benign Het
Ppfibp2 A T 7: 107,345,629 (GRCm39) I884F possibly damaging Het
Pus7l A G 15: 94,421,345 (GRCm39) V655A probably benign Het
Rad51ap2 A G 12: 11,506,897 (GRCm39) D273G probably damaging Het
Rc3h2 T C 2: 37,272,823 (GRCm39) D751G probably benign Het
Sdk1 C T 5: 142,158,299 (GRCm39) A1863V probably damaging Het
Spns3 T C 11: 72,420,403 (GRCm39) Y361C probably damaging Het
Srp72 T A 5: 77,142,062 (GRCm39) I372N probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tcf20 A G 15: 82,737,438 (GRCm39) S1338P probably benign Het
Tcte1 G A 17: 45,850,812 (GRCm39) V363I probably benign Het
Vmn1r42 T C 6: 89,822,407 (GRCm39) K54R probably benign Het
Vps13b A G 15: 35,917,274 (GRCm39) N3706S probably benign Het
Vwde T C 6: 13,192,613 (GRCm39) Y430C probably damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Zfp959 G A 17: 56,202,956 (GRCm39) 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
IGL03253:Or4a70 APN 2 89,324,143 (GRCm39) missense possibly damaging 0.80
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 2015-04-16