Incidental Mutation 'IGL02625:Or4a69'
ID 301029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4a69
Ensembl Gene ENSMUSG00000075086
Gene Name olfactory receptor family 4 subfamily A member 69
Synonyms MOR231-14, Olfr1241, GA_x6K02T2Q125-50926215-50925271
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL02625
Quality Score
Status
Chromosome 2
Chromosomal Location 89311658-89317470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89313018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 154 (S154P)
Ref Sequence ENSEMBL: ENSMUSP00000149914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099778] [ENSMUST00000214743] [ENSMUST00000215055]
AlphaFold Q8VF91
Predicted Effect probably damaging
Transcript: ENSMUST00000099778
AA Change: S154P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097366
Gene: ENSMUSG00000075086
AA Change: S154P

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-46 PFAM
Pfam:7tm_1 39 285 8.5e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214743
AA Change: S154P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000215055
AA Change: S154P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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
Alg6 T A 4: 99,634,584 (GRCm39) C109S probably damaging Het
Arhgdia C A 11: 120,471,039 (GRCm39) E53D probably benign Het
Ccr4 A C 9: 114,321,401 (GRCm39) C221W probably damaging Het
Ces2a G A 8: 105,466,910 (GRCm39) probably null Het
Chpf2 G T 5: 24,796,709 (GRCm39) E552* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dock2 A G 11: 34,451,168 (GRCm39) probably null Het
Esr1 A T 10: 4,951,346 (GRCm39) T575S probably benign Het
Fancc A G 13: 63,545,965 (GRCm39) C93R probably damaging Het
Foxj3 A T 4: 119,482,114 (GRCm39) R523W unknown Het
Fryl C T 5: 73,227,220 (GRCm39) probably benign Het
Fsip2 A C 2: 82,779,836 (GRCm39) H194P probably benign Het
Gaa G A 11: 119,165,559 (GRCm39) V350I probably damaging Het
Gpn3 T A 5: 122,519,257 (GRCm39) I152N probably damaging Het
H2-M10.3 T A 17: 36,678,417 (GRCm39) H136L probably benign Het
H4c16 C T 6: 136,781,335 (GRCm39) probably benign Het
Hspg2 A G 4: 137,239,953 (GRCm39) D507G probably damaging Het
Jcad A G 18: 4,674,422 (GRCm39) E728G probably benign Het
Kat14 G A 2: 144,244,365 (GRCm39) R406H possibly damaging Het
Kcnma1 G T 14: 23,413,900 (GRCm39) D863E probably damaging Het
Lrp1 A G 10: 127,410,355 (GRCm39) Y1464H probably damaging Het
Map4 T C 9: 109,893,485 (GRCm39) S584P probably damaging Het
Nlrp4f G A 13: 65,347,085 (GRCm39) L58F probably damaging Het
Nlrp6 A G 7: 140,503,413 (GRCm39) I506M probably benign Het
Nudt17 G A 3: 96,613,780 (GRCm39) R266W probably damaging Het
Or4a47 A G 2: 89,665,740 (GRCm39) L183P probably damaging Het
Or52h9 A G 7: 104,202,780 (GRCm39) Y218C probably damaging Het
Plcb4 A G 2: 135,803,714 (GRCm39) E529G probably benign Het
Prss32 A T 17: 24,075,210 (GRCm39) I187F possibly damaging Het
Prss55 A T 14: 64,316,818 (GRCm39) I108K probably damaging Het
Rcl1 A G 19: 29,095,741 (GRCm39) M109V probably benign Het
Rho A T 6: 115,912,158 (GRCm39) M207L possibly damaging Het
Slc12a1 A G 2: 125,012,611 (GRCm39) D291G probably damaging Het
Slco2b1 A C 7: 99,309,330 (GRCm39) probably null Het
Stx11 T A 10: 12,817,661 (GRCm39) D21V possibly damaging Het
Svep1 T A 4: 58,115,807 (GRCm39) Y962F possibly damaging Het
Tbx5 G T 5: 119,974,972 (GRCm39) probably benign Het
Tcf12 C A 9: 71,830,039 (GRCm39) G141W probably damaging Het
Tmtc2 A G 10: 105,206,407 (GRCm39) M296T probably damaging Het
Trim13 T A 14: 61,842,999 (GRCm39) S339T probably benign Het
Ugt1a7c A G 1: 88,023,239 (GRCm39) K133E possibly damaging Het
Usp40 A G 1: 87,877,739 (GRCm39) V1050A probably benign Het
Vmn2r86 T G 10: 130,288,781 (GRCm39) N240T probably damaging Het
Wdr36 T C 18: 32,992,314 (GRCm39) V617A possibly damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr6 T C 9: 108,452,704 (GRCm39) Y393C probably damaging Het
Zfp619 A T 7: 39,183,609 (GRCm39) probably benign Het
Other mutations in Or4a69
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Or4a69 APN 2 89,313,191 (GRCm39) missense probably benign 0.38
IGL02175:Or4a69 APN 2 89,312,626 (GRCm39) missense possibly damaging 0.96
R0109:Or4a69 UTSW 2 89,313,147 (GRCm39) missense probably benign 0.10
R0109:Or4a69 UTSW 2 89,313,147 (GRCm39) missense probably benign 0.10
R1468:Or4a69 UTSW 2 89,312,855 (GRCm39) missense possibly damaging 0.94
R1468:Or4a69 UTSW 2 89,312,855 (GRCm39) missense possibly damaging 0.94
R1511:Or4a69 UTSW 2 89,312,592 (GRCm39) missense probably null 0.01
R1527:Or4a69 UTSW 2 89,312,876 (GRCm39) missense probably benign 0.10
R1528:Or4a69 UTSW 2 89,312,897 (GRCm39) missense probably damaging 1.00
R1585:Or4a69 UTSW 2 89,313,315 (GRCm39) missense probably benign 0.00
R2483:Or4a69 UTSW 2 89,313,471 (GRCm39) nonsense probably null
R2972:Or4a69 UTSW 2 89,313,120 (GRCm39) missense possibly damaging 0.52
R3692:Or4a69 UTSW 2 89,313,240 (GRCm39) missense probably benign
R4592:Or4a69 UTSW 2 89,313,100 (GRCm39) missense probably damaging 1.00
R4883:Or4a69 UTSW 2 89,312,652 (GRCm39) missense probably benign
R7104:Or4a69 UTSW 2 89,313,458 (GRCm39) missense possibly damaging 0.70
R7347:Or4a69 UTSW 2 89,312,799 (GRCm39) missense probably benign 0.05
R9487:Or4a69 UTSW 2 89,312,756 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16