Incidental Mutation 'IGL02388:Or4a78'
ID 291611
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4a78
Ensembl Gene ENSMUSG00000111567
Gene Name olfactory receptor family 4 subfamily A member 78
Synonyms Olfr1251, GA_x6K02T2Q125-51109312-51108356, MOR231-15P, MOR231-24_p
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # IGL02388
Quality Score
Status
Chromosome 2
Chromosomal Location 89497272-89498228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89497316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 305 (S305G)
Ref Sequence ENSEMBL: ENSMUSP00000150028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214304] [ENSMUST00000214639] [ENSMUST00000214750]
AlphaFold Q7TQZ3
Predicted Effect probably benign
Transcript: ENSMUST00000188085
AA Change: S305G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000140591
Gene: ENSMUSG00000100323
AA Change: S305G

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 1.4e-29 PFAM
Pfam:7tm_4 137 278 2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214304
AA Change: S305G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000214639
AA Change: S305G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000214750
AA Change: S305G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
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
4930597O21Rik A T 6: 66,873,097 (GRCm39) probably benign Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Asphd1 A T 7: 126,545,884 (GRCm39) probably benign Het
Ccdc77 G A 6: 120,308,858 (GRCm39) A301V probably benign Het
Cep350 G T 1: 155,829,499 (GRCm39) T135K probably benign Het
Chrna7 A T 7: 62,757,439 (GRCm39) D153E probably damaging Het
Clec4b2 G T 6: 123,179,187 (GRCm39) probably null Het
Cyp2c67 T C 19: 39,631,799 (GRCm39) N133D probably benign Het
Dglucy T C 12: 100,823,257 (GRCm39) I484T probably damaging Het
Dtna G T 18: 23,730,571 (GRCm39) M319I probably benign Het
E2f5 T A 3: 14,653,340 (GRCm39) M152K probably benign Het
Emsy A T 7: 98,290,873 (GRCm39) M58K probably damaging Het
Epha1 A G 6: 42,341,950 (GRCm39) Y367H probably damaging Het
Etv1 A G 12: 38,831,798 (GRCm39) S32G possibly damaging Het
Fam114a1 A T 5: 65,166,323 (GRCm39) probably benign Het
Fbxo30 T A 10: 11,166,122 (GRCm39) N281K probably benign Het
Galnt12 G T 4: 47,117,941 (GRCm39) R412L probably damaging Het
Gm5786 T A 12: 59,128,382 (GRCm39) noncoding transcript Het
Gm9845 T C 3: 39,412,616 (GRCm39) noncoding transcript Het
Hecw2 A G 1: 53,964,858 (GRCm39) V656A probably benign Het
Hpse2 A T 19: 43,282,692 (GRCm39) V187D probably damaging Het
Itsn2 T A 12: 4,679,557 (GRCm39) M122K possibly damaging Het
Kcnj11 A G 7: 45,749,213 (GRCm39) S37P probably benign Het
Kif13b T C 14: 65,037,807 (GRCm39) I1491T probably damaging Het
Krt36 T A 11: 99,995,990 (GRCm39) K145* probably null Het
Loxhd1 A G 18: 77,456,833 (GRCm39) I499V probably benign Het
Map3k4 G T 17: 12,490,497 (GRCm39) N311K probably damaging Het
Mical2 C A 7: 111,934,620 (GRCm39) H880N probably benign Het
Myo1d A T 11: 80,528,823 (GRCm39) C666* probably null Het
Nlrx1 C T 9: 44,175,302 (GRCm39) R158H probably benign Het
Or10ag53 T A 2: 87,082,295 (GRCm39) Y5N probably benign Het
Or10q1 C A 19: 13,726,994 (GRCm39) H175N possibly damaging Het
Or13a17 A G 7: 140,271,024 (GRCm39) T69A probably benign Het
Or1e21 A T 11: 73,344,106 (GRCm39) L311I probably benign Het
Pdgfrl A G 8: 41,430,094 (GRCm39) R154G probably benign Het
Pitpnb T C 5: 111,478,699 (GRCm39) F7S possibly damaging Het
Ppm1n G A 7: 19,013,097 (GRCm39) R285C probably damaging Het
Prdm11 A T 2: 92,805,957 (GRCm39) I331N possibly damaging Het
Ptprb C T 10: 116,203,426 (GRCm39) P2066L probably damaging Het
Ric8b T C 10: 84,828,135 (GRCm39) probably benign Het
Setx A G 2: 29,063,665 (GRCm39) I2320M probably damaging Het
Skil C A 3: 31,165,787 (GRCm39) S368* probably null Het
Slc1a5 G T 7: 16,519,644 (GRCm39) probably null Het
Trpm7 A C 2: 126,661,811 (GRCm39) V1079G possibly damaging Het
Tulp1 A G 17: 28,577,633 (GRCm39) F2L probably damaging Het
Ulbp3 A T 10: 3,075,050 (GRCm39) noncoding transcript Het
Zbtb17 A G 4: 141,189,224 (GRCm39) Y48C probably damaging Het
Zfp605 T A 5: 110,275,506 (GRCm39) I208N possibly damaging Het
Other mutations in Or4a78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01817:Or4a78 APN 2 89,497,348 (GRCm39) missense probably benign 0.00
IGL01941:Or4a78 APN 2 89,497,812 (GRCm39) nonsense probably null 0.00
IGL01988:Or4a78 APN 2 89,497,424 (GRCm39) missense probably benign 0.07
IGL03169:Or4a78 APN 2 89,497,831 (GRCm39) missense possibly damaging 0.86
R0008:Or4a78 UTSW 2 89,497,428 (GRCm39) missense probably damaging 1.00
R0042:Or4a78 UTSW 2 89,497,798 (GRCm39) missense probably benign 0.01
R0834:Or4a78 UTSW 2 89,497,423 (GRCm39) missense probably benign 0.24
R1102:Or4a78 UTSW 2 89,497,814 (GRCm39) missense probably damaging 0.98
R2213:Or4a78 UTSW 2 89,497,891 (GRCm39) missense probably damaging 1.00
R2219:Or4a78 UTSW 2 89,498,211 (GRCm39) missense possibly damaging 0.73
R3023:Or4a78 UTSW 2 89,497,990 (GRCm39) missense possibly damaging 0.86
R3105:Or4a78 UTSW 2 89,497,302 (GRCm39) missense probably benign 0.01
R3433:Or4a78 UTSW 2 89,497,577 (GRCm39) missense probably benign 0.01
R3508:Or4a78 UTSW 2 89,497,816 (GRCm39) missense probably benign 0.14
R3758:Or4a78 UTSW 2 89,497,916 (GRCm39) missense probably benign 0.14
R3909:Or4a78 UTSW 2 89,497,357 (GRCm39) missense probably damaging 0.98
R4049:Or4a78 UTSW 2 89,498,006 (GRCm39) missense probably benign 0.03
R4457:Or4a78 UTSW 2 89,497,427 (GRCm39) missense probably benign 0.24
R5613:Or4a78 UTSW 2 89,497,388 (GRCm39) missense probably damaging 1.00
R5748:Or4a78 UTSW 2 89,498,146 (GRCm39) missense possibly damaging 0.67
R6226:Or4a78 UTSW 2 89,497,333 (GRCm39) missense probably damaging 1.00
R6950:Or4a78 UTSW 2 89,497,895 (GRCm39) missense probably benign 0.07
R9129:Or4a78 UTSW 2 89,497,930 (GRCm39) missense probably damaging 1.00
R9792:Or4a78 UTSW 2 89,497,811 (GRCm39) missense probably benign 0.00
R9793:Or4a78 UTSW 2 89,497,811 (GRCm39) missense probably benign 0.00
R9795:Or4a78 UTSW 2 89,497,811 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16