Incidental Mutation 'IGL01988:Or4a78'
ID 181982
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 # IGL01988
Quality Score
Status
Chromosome 2
Chromosomal Location 89497272-89498228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89497424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 269 (I269F)
Ref Sequence ENSEMBL: ENSMUSP00000150028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214304] [ENSMUST00000214639] [ENSMUST00000214750]
AlphaFold Q7TQZ3
Predicted Effect probably benign
Transcript: ENSMUST00000099767
AA Change: I269F

PolyPhen 2 Score 0.050 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097355
Gene: ENSMUSG00000075077
AA Change: I269F

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.1e-45 PFAM
Pfam:7tm_1 39 285 2.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188085
AA Change: I269F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000140591
Gene: ENSMUSG00000100323
AA Change: I269F

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: I269F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000214639
AA Change: I269F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000214750
AA Change: I269F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,101,107 (GRCm39) S493R probably benign Het
Abca17 T C 17: 24,553,229 (GRCm39) N161D probably damaging Het
Ace2 C A X: 162,946,988 (GRCm39) N290K possibly damaging Het
Adam26a G A 8: 44,022,207 (GRCm39) P428S possibly damaging Het
Adgrv1 T C 13: 81,705,428 (GRCm39) R1461G probably damaging Het
Arhgef10l T C 4: 140,305,672 (GRCm39) probably benign Het
Bicc1 A G 10: 70,792,006 (GRCm39) V334A probably damaging Het
C8a T C 4: 104,683,891 (GRCm39) Y408C probably damaging Het
Col24a1 T C 3: 145,229,922 (GRCm39) probably null Het
Copa T A 1: 171,945,831 (GRCm39) N931K probably benign Het
Cr1l A G 1: 194,799,858 (GRCm39) M272T probably damaging Het
Dcaf12 T C 4: 41,298,299 (GRCm39) N283S probably benign Het
Dnttip2 T A 3: 122,069,944 (GRCm39) S386R probably benign Het
Fbll1 G T 11: 35,688,728 (GRCm39) D178E probably benign Het
Fgd6 A G 10: 93,910,197 (GRCm39) probably benign Het
Fyn T A 10: 39,409,917 (GRCm39) L408* probably null Het
Gkn2 T C 6: 87,356,257 (GRCm39) V176A probably benign Het
Gm10764 G A 10: 87,126,953 (GRCm39) C120Y unknown Het
Gpr19 A T 6: 134,846,247 (GRCm39) F442I probably damaging Het
Herc1 A G 9: 66,395,357 (GRCm39) probably benign Het
Il7 A G 3: 7,669,126 (GRCm39) Y37H possibly damaging Het
Kcnj3 G A 2: 55,327,243 (GRCm39) D11N probably benign Het
Kif1c A G 11: 70,595,762 (GRCm39) D156G probably damaging Het
Lrch1 T C 14: 75,032,813 (GRCm39) probably benign Het
Nedd1 G T 10: 92,550,021 (GRCm39) T88K probably benign Het
Nlrc3 T G 16: 3,771,803 (GRCm39) S875R probably benign Het
Optc A G 1: 133,834,667 (GRCm39) probably null Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Pde1b A G 15: 103,433,283 (GRCm39) probably null Het
Phf11a A T 14: 59,514,807 (GRCm39) D291E probably damaging Het
Slc30a8 A T 15: 52,198,601 (GRCm39) I349L probably benign Het
Spty2d1 T A 7: 46,647,358 (GRCm39) S524C probably damaging Het
Syndig1 T C 2: 149,845,090 (GRCm39) probably benign Het
Syvn1 G A 19: 6,102,437 (GRCm39) A502T probably benign Het
Tenm2 A G 11: 35,918,078 (GRCm39) L1894P probably damaging Het
Tmem176a T A 6: 48,819,554 (GRCm39) V11E possibly damaging Het
Tpr G T 1: 150,302,750 (GRCm39) probably null Het
Txnrd2 T C 16: 18,274,768 (GRCm39) probably benign Het
Ubqln3 G A 7: 103,792,089 (GRCm39) probably benign Het
Vmn1r6 C T 6: 56,979,650 (GRCm39) T82I probably damaging Het
Wdfy4 C T 14: 32,798,437 (GRCm39) E1990K possibly damaging Het
Zdhhc7 T C 8: 120,809,329 (GRCm39) R293G probably benign Het
Zeb1 T A 18: 5,759,037 (GRCm39) L148* probably null 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
IGL02388:Or4a78 APN 2 89,497,316 (GRCm39) missense probably benign 0.00
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 2014-05-07