Incidental Mutation 'IGL03058:Or13c7d'
ID 409324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or13c7d
Ensembl Gene ENSMUSG00000044801
Gene Name olfactory receptor family 13 subfamily C member 7D
Synonyms mOR37e, MOR262-5, Olfr37e, GA_x6K02T2N78B-16165641-16166600, Olfr159
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL03058
Quality Score
Status
Chromosome 4
Chromosomal Location 43770050-43771009 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 43770255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 252 (F252C)
Ref Sequence ENSEMBL: ENSMUSP00000060784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053931]
AlphaFold Q9QZ19
Predicted Effect probably damaging
Transcript: ENSMUST00000053931
AA Change: F252C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060784
Gene: ENSMUSG00000044801
AA Change: F252C

DomainStartEndE-ValueType
Pfam:7tm_4 32 315 6.9e-60 PFAM
Pfam:7tm_1 42 297 2.4e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120783
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,109,112 (GRCm39) V395A probably benign Het
Adck1 A T 12: 88,425,900 (GRCm39) T443S probably benign Het
Axdnd1 G A 1: 156,204,233 (GRCm39) A541V probably benign Het
B020011L13Rik A G 1: 117,710,699 (GRCm39) D35G possibly damaging Het
Bmp3 T G 5: 99,019,953 (GRCm39) I125M probably damaging Het
Cdc40 T C 10: 40,725,824 (GRCm39) E215G probably benign Het
Ces1f A G 8: 93,996,600 (GRCm39) probably null Het
Chd8 A C 14: 52,455,730 (GRCm39) V986G probably damaging Het
Clca4a A T 3: 144,667,595 (GRCm39) probably benign Het
Crhbp T A 13: 95,580,306 (GRCm39) E91V probably damaging Het
Dgkh T A 14: 78,865,237 (GRCm39) H53L probably benign Het
Dnajc1 T C 2: 18,222,132 (GRCm39) D532G possibly damaging Het
Dot1l T C 10: 80,626,831 (GRCm39) S230P probably benign Het
Evi5 C T 5: 107,896,017 (GRCm39) V809M probably damaging Het
Fbn1 T A 2: 125,245,120 (GRCm39) M256L probably benign Het
Fem1al T C 11: 29,774,656 (GRCm39) D267G probably benign Het
Fgfr2 C T 7: 129,784,422 (GRCm39) D292N probably damaging Het
Fmn1 C T 2: 113,272,159 (GRCm39) probably benign Het
Htatsf1 T A X: 56,104,281 (GRCm39) D203E probably damaging Het
Kcnh1 T A 1: 192,117,199 (GRCm39) L51Q probably damaging Het
Lamp5 A T 2: 135,911,047 (GRCm39) H260L probably benign Het
Mindy4 T A 6: 55,285,183 (GRCm39) V659D probably damaging Het
Mkks C A 2: 136,718,090 (GRCm39) L397F probably damaging Het
Ncan G A 8: 70,560,582 (GRCm39) S795F possibly damaging Het
Or9g4 T C 2: 85,505,025 (GRCm39) I157V probably benign Het
Papolg T C 11: 23,845,029 (GRCm39) M4V probably benign Het
Pdk3 A T X: 92,845,892 (GRCm39) I143N probably benign Het
Polr2a A T 11: 69,635,873 (GRCm39) probably null Het
Prc1 C T 7: 79,950,873 (GRCm39) T78I probably benign Het
Ret C A 6: 118,152,028 (GRCm39) D569Y probably damaging Het
Samd9l G T 6: 3,374,980 (GRCm39) N760K probably damaging Het
Slc5a12 T A 2: 110,471,137 (GRCm39) S460T probably benign Het
Slco1c1 A G 6: 141,508,913 (GRCm39) I573M probably benign Het
Spata31f1e G A 4: 42,793,764 (GRCm39) L123F probably damaging Het
Steap4 A G 5: 8,025,664 (GRCm39) D75G probably benign Het
Tcf20 A G 15: 82,736,205 (GRCm39) F1749L probably damaging Het
Thbs2 T C 17: 14,910,231 (GRCm39) T123A possibly damaging Het
Tmc3 T C 7: 83,265,094 (GRCm39) S663P possibly damaging Het
Vmn2r121 G T X: 123,042,618 (GRCm39) H180N probably benign Het
Vnn1 T C 10: 23,780,442 (GRCm39) F477L probably benign Het
Xpnpep2 A G X: 47,214,302 (GRCm39) probably null Het
Zfand4 T C 6: 116,265,038 (GRCm39) F168L probably benign Het
Other mutations in Or13c7d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Or13c7d APN 4 43,770,112 (GRCm39) missense probably damaging 1.00
IGL02701:Or13c7d APN 4 43,770,366 (GRCm39) missense probably benign 0.31
IGL02839:Or13c7d APN 4 43,770,943 (GRCm39) nonsense probably null
IGL02956:Or13c7d APN 4 43,770,399 (GRCm39) missense probably benign 0.15
R1164:Or13c7d UTSW 4 43,770,991 (GRCm39) missense probably benign 0.03
R1796:Or13c7d UTSW 4 43,770,495 (GRCm39) missense possibly damaging 0.90
R1812:Or13c7d UTSW 4 43,770,230 (GRCm39) nonsense probably null
R4906:Or13c7d UTSW 4 43,770,476 (GRCm39) missense possibly damaging 0.76
R5426:Or13c7d UTSW 4 43,770,168 (GRCm39) missense probably benign 0.04
R5684:Or13c7d UTSW 4 43,770,624 (GRCm39) missense probably benign 0.03
R6002:Or13c7d UTSW 4 43,770,063 (GRCm39) missense probably benign
R7174:Or13c7d UTSW 4 43,770,691 (GRCm39) missense not run
R7431:Or13c7d UTSW 4 43,770,882 (GRCm39) missense probably damaging 1.00
R8423:Or13c7d UTSW 4 43,770,598 (GRCm39) missense possibly damaging 0.65
R8770:Or13c7d UTSW 4 43,770,813 (GRCm39) missense probably damaging 1.00
R8789:Or13c7d UTSW 4 43,770,793 (GRCm39) missense probably damaging 0.96
R8989:Or13c7d UTSW 4 43,770,346 (GRCm39) missense possibly damaging 0.76
R9616:Or13c7d UTSW 4 43,770,193 (GRCm39) nonsense probably null
Z1176:Or13c7d UTSW 4 43,770,267 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02