Incidental Mutation 'IGL02701:Or13c7d'
ID 304125
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 # IGL02701
Quality Score
Status
Chromosome 4
Chromosomal Location 43770050-43771009 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43770366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 215 (I215T)
Ref Sequence ENSEMBL: ENSMUSP00000060784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053931]
AlphaFold Q9QZ19
Predicted Effect probably benign
Transcript: ENSMUST00000053931
AA Change: I215T

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000060784
Gene: ENSMUSG00000044801
AA Change: I215T

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A G 2: 20,896,902 (GRCm39) C125R probably damaging Het
Blmh A G 11: 76,862,736 (GRCm39) D383G probably benign Het
Brca1 T C 11: 101,416,061 (GRCm39) E691G probably damaging Het
Chrm3 G A 13: 9,928,500 (GRCm39) R179* probably null Het
Cnrip1 A G 11: 17,028,415 (GRCm39) T116A probably benign Het
Csmd2 T C 4: 128,389,934 (GRCm39) V2223A probably benign Het
Dalrd3 T A 9: 108,449,483 (GRCm39) V143D possibly damaging Het
Ddx60 A T 8: 62,432,375 (GRCm39) I886L probably damaging Het
Dennd4a T C 9: 64,804,635 (GRCm39) F1325L possibly damaging Het
Dnmt3l A T 10: 77,890,856 (GRCm39) T253S probably benign Het
Fads2b A G 2: 85,314,513 (GRCm39) L480P probably damaging Het
Ftdc1 G A 16: 58,436,170 (GRCm39) S51L probably benign Het
Gde1 T A 7: 118,297,860 (GRCm39) T9S probably damaging Het
Ggcx T A 6: 72,395,455 (GRCm39) probably benign Het
Hspg2 C T 4: 137,284,485 (GRCm39) A3481V probably damaging Het
Igf1r T C 7: 67,850,997 (GRCm39) Y931H possibly damaging Het
Ighv12-3 A C 12: 114,330,421 (GRCm39) S25A probably damaging Het
Itga5 A C 15: 103,256,193 (GRCm39) C920G probably damaging Het
Kmt5b A G 19: 3,846,681 (GRCm39) D118G probably benign Het
Lrp1b T G 2: 41,136,029 (GRCm39) N1647T possibly damaging Het
Lrrc71 T C 3: 87,649,079 (GRCm39) E363G probably benign Het
Mapk1 A G 16: 16,833,770 (GRCm39) Y41C probably benign Het
Mib1 T C 18: 10,747,357 (GRCm39) V178A probably damaging Het
Or5m10b A G 2: 85,699,802 (GRCm39) I289V probably benign Het
Or5p52 A T 7: 107,502,649 (GRCm39) T242S probably benign Het
Plb1 T C 5: 32,521,541 (GRCm39) V1464A unknown Het
Plekhg5 T C 4: 152,187,479 (GRCm39) S82P probably damaging Het
Plxna4 T C 6: 32,494,494 (GRCm39) T41A probably benign Het
Ppip5k1 A C 2: 121,147,130 (GRCm39) probably null Het
Pttg1ip2 A G 5: 5,516,623 (GRCm39) probably null Het
Rpl14 T C 9: 120,402,639 (GRCm39) probably benign Het
Slc44a2 T C 9: 21,259,247 (GRCm39) F554L probably benign Het
Slco1b2 T A 6: 141,631,271 (GRCm39) V635E probably benign Het
Sv2a T A 3: 96,094,447 (GRCm39) C261S probably damaging Het
Thbs2 T C 17: 14,903,623 (GRCm39) I353V probably benign Het
Tspan4 G A 7: 141,071,941 (GRCm39) V205M probably damaging Het
Vezf1 A T 11: 87,967,047 (GRCm39) R93* probably null Het
Wwox T A 8: 115,433,108 (GRCm39) V258D probably damaging Het
Zmynd12 G T 4: 119,301,952 (GRCm39) probably benign Het
Other mutations in Or13c7d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Or13c7d APN 4 43,770,112 (GRCm39) missense probably damaging 1.00
IGL02839:Or13c7d APN 4 43,770,943 (GRCm39) nonsense probably null
IGL02956:Or13c7d APN 4 43,770,399 (GRCm39) missense probably benign 0.15
IGL03058:Or13c7d APN 4 43,770,255 (GRCm39) missense probably damaging 1.00
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 2015-04-16