Incidental Mutation 'IGL03412:Or4a70'
ID 421825
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: 0.053) question?
Stock # IGL03412
Quality Score
Status
Chromosome 2
Chromosomal Location 89323638-89324690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89324555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 34 (I34F)
Ref Sequence ENSEMBL: ENSMUSP00000149368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099777] [ENSMUST00000111540] [ENSMUST00000143935] [ENSMUST00000216001]
AlphaFold Q8VGM6
Predicted Effect probably benign
Transcript: ENSMUST00000099777
AA Change: I34F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000097365
Gene: ENSMUSG00000075085
AA Change: I34F

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 benign
Transcript: ENSMUST00000111540
AA Change: I34F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000107165
Gene: ENSMUSG00000075085
AA Change: I34F

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 benign
Transcript: ENSMUST00000143935
AA Change: I34F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000216001
AA Change: I34F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,455,390 (GRCm39) R736* probably null Het
Agpat2 T C 2: 26,483,673 (GRCm39) T255A probably benign Het
Akap3 G A 6: 126,841,688 (GRCm39) M102I probably benign Het
Cd300lb C A 11: 114,819,206 (GRCm39) R5M probably damaging Het
Chrna5 A T 9: 54,911,719 (GRCm39) D69V probably damaging Het
Col9a1 G A 1: 24,249,508 (GRCm39) probably null Het
Dnajb12 A T 10: 59,725,895 (GRCm39) H60L probably benign Het
Dnal1 T A 12: 84,182,441 (GRCm39) M1K probably null Het
Exoc7 C T 11: 116,180,101 (GRCm39) V655M possibly damaging Het
Fastkd3 A G 13: 68,731,840 (GRCm39) R54G probably benign Het
Fbln2 G A 6: 91,248,763 (GRCm39) D1143N probably damaging Het
Flii C T 11: 60,613,466 (GRCm39) V174M probably damaging Het
Gtf2h4 T C 17: 35,979,375 (GRCm39) I388M probably damaging Het
Il20rb A G 9: 100,357,049 (GRCm39) V27A probably benign Het
Kidins220 T C 12: 25,049,344 (GRCm39) S320P probably damaging Het
Kif1b T C 4: 149,359,396 (GRCm39) S114G probably benign Het
Lama3 T C 18: 12,552,239 (GRCm39) V397A probably damaging Het
Man2a2 A T 7: 80,016,746 (GRCm39) V356D probably damaging Het
Mcpt9 T G 14: 56,265,484 (GRCm39) T72P probably damaging Het
Mmd T C 11: 90,148,429 (GRCm39) probably null Het
Mroh2b G A 15: 4,973,854 (GRCm39) R1124Q probably benign Het
Mvp T C 7: 126,592,735 (GRCm39) D392G probably damaging Het
Mycbpap T A 11: 94,398,927 (GRCm39) probably null Het
Myh2 A G 11: 67,080,395 (GRCm39) H1203R probably benign Het
Nbeal1 T A 1: 60,281,726 (GRCm39) C816* probably null Het
Or5an6 A T 19: 12,371,743 (GRCm39) T39S probably damaging Het
Pcdh12 C T 18: 38,416,568 (GRCm39) V186M probably benign Het
Pik3c2a C T 7: 116,017,074 (GRCm39) E228K probably benign Het
Plcz1 A C 6: 139,961,823 (GRCm39) Y243D probably damaging Het
Rspo3 T A 10: 29,411,270 (GRCm39) I19F possibly damaging Het
Slc2a12 T C 10: 22,540,868 (GRCm39) L241P probably damaging Het
Slc4a10 G A 2: 62,080,887 (GRCm39) probably benign Het
Snai2 A T 16: 14,525,120 (GRCm39) T209S possibly damaging Het
Sorcs2 T C 5: 36,203,848 (GRCm39) D549G probably damaging Het
Srsf12 G A 4: 33,230,929 (GRCm39) R141Q probably damaging Het
Stab1 T G 14: 30,876,364 (GRCm39) E908D probably benign Het
Stat6 A T 10: 127,494,074 (GRCm39) M634L probably benign Het
Tex21 A G 12: 76,291,780 (GRCm39) probably null Het
Tsc2 C A 17: 24,816,042 (GRCm39) R1715L probably damaging Het
Ttll4 A G 1: 74,726,480 (GRCm39) I693V probably benign Het
Vmn1r5 A T 6: 56,962,918 (GRCm39) M198L possibly damaging Het
Vmn1r50 T C 6: 90,085,007 (GRCm39) Y251H probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Wdr3 G T 3: 100,059,293 (GRCm39) T342K probably benign Het
Zbtb44 A G 9: 30,964,763 (GRCm39) T58A probably benign Het
Zeb2 A G 2: 44,892,720 (GRCm39) probably benign Het
Zmym2 C T 14: 57,197,176 (GRCm39) Q1315* probably null Het
Zmym6 T C 4: 126,986,731 (GRCm39) I137T probably damaging 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
IGL03253:Or4a70 APN 2 89,324,143 (GRCm39) missense possibly damaging 0.80
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