Incidental Mutation 'IGL01888:Or13d1'
ID 179182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or13d1
Ensembl Gene ENSMUSG00000070983
Gene Name olfactory receptor family 13 subfamily D member 1
Synonyms GA_x6K02T2N78B-7025964-7025020, Olfr270, MOR262-9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL01888
Quality Score
Status
Chromosome 4
Chromosomal Location 52970629-52971567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52970974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 118 (M118V)
Ref Sequence ENSEMBL: ENSMUSP00000150038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095084] [ENSMUST00000172257] [ENSMUST00000215010] [ENSMUST00000215127]
AlphaFold Q7TS19
Predicted Effect probably damaging
Transcript: ENSMUST00000095084
AA Change: M118V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092699
Gene: ENSMUSG00000070983
AA Change: M118V

DomainStartEndE-ValueType
Pfam:7tm_4 30 308 7.8e-54 PFAM
Pfam:7tm_1 41 290 1e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172257
AA Change: M116V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133100
Gene: ENSMUSG00000070983
AA Change: M116V

DomainStartEndE-ValueType
Pfam:7tm_1 39 288 7.3e-34 PFAM
Pfam:7tm_4 137 281 1.3e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215010
AA Change: M118V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215127
AA Change: M118V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T C 11: 105,859,770 (GRCm39) V101A probably benign Het
Ano5 A T 7: 51,216,048 (GRCm39) I342F probably benign Het
Arhgef10 C A 8: 15,012,577 (GRCm39) Y300* probably null Het
Caps2 A G 10: 112,018,965 (GRCm39) D210G probably damaging Het
Ccdc125 T C 13: 100,823,610 (GRCm39) probably benign Het
Colgalt1 T A 8: 72,070,318 (GRCm39) M200K probably damaging Het
Dzank1 G T 2: 144,318,074 (GRCm39) probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Ist1 T C 8: 110,410,400 (GRCm39) probably benign Het
Pcm1 T A 8: 41,710,993 (GRCm39) Y88N probably damaging Het
Pikfyve G A 1: 65,262,799 (GRCm39) D497N probably damaging Het
Pkd1 T C 17: 24,804,789 (GRCm39) V3171A possibly damaging Het
Slc22a18 T A 7: 143,033,053 (GRCm39) V47D probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Swap70 A T 7: 109,879,841 (GRCm39) H541L probably damaging Het
Tmx3 G A 18: 90,546,045 (GRCm39) D209N probably benign Het
Tubgcp4 A G 2: 121,015,228 (GRCm39) H312R probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r97 A T 17: 19,149,286 (GRCm39) K225* probably null Het
Other mutations in Or13d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Or13d1 APN 4 52,971,058 (GRCm39) missense possibly damaging 0.76
IGL02160:Or13d1 APN 4 52,971,194 (GRCm39) missense probably damaging 1.00
IGL02390:Or13d1 APN 4 52,971,263 (GRCm39) missense probably damaging 1.00
R0148:Or13d1 UTSW 4 52,971,232 (GRCm39) missense probably benign 0.01
R4967:Or13d1 UTSW 4 52,970,960 (GRCm39) missense possibly damaging 0.85
R5721:Or13d1 UTSW 4 52,971,068 (GRCm39) missense probably damaging 1.00
R7089:Or13d1 UTSW 4 52,971,470 (GRCm39) missense probably damaging 1.00
R7151:Or13d1 UTSW 4 52,970,665 (GRCm39) missense probably benign 0.04
R7448:Or13d1 UTSW 4 52,971,207 (GRCm39) missense probably damaging 1.00
R7772:Or13d1 UTSW 4 52,970,713 (GRCm39) missense probably damaging 1.00
R8058:Or13d1 UTSW 4 52,971,106 (GRCm39) missense probably benign 0.11
R8150:Or13d1 UTSW 4 52,970,788 (GRCm39) missense probably damaging 0.97
R8318:Or13d1 UTSW 4 52,971,104 (GRCm39) missense probably benign 0.00
R8798:Or13d1 UTSW 4 52,970,790 (GRCm39) missense possibly damaging 0.95
R9157:Or13d1 UTSW 4 52,971,419 (GRCm39) missense possibly damaging 0.73
X0027:Or13d1 UTSW 4 52,971,241 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07