Incidental Mutation 'IGL02471:Or9q2'
ID 294739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or9q2
Ensembl Gene ENSMUSG00000044040
Gene Name olfactory receptor family 9 subfamily Q member 2
Synonyms GA_x6K02T2RE5P-4127765-4126821, Olfr1497, MOR212-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # IGL02471
Quality Score
Status
Chromosome 19
Chromosomal Location 13772029-13772973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13772589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 129 (P129S)
Ref Sequence ENSEMBL: ENSMUSP00000149151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061993] [ENSMUST00000217384]
AlphaFold Q8VG11
Predicted Effect probably damaging
Transcript: ENSMUST00000061993
AA Change: P129S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053465
Gene: ENSMUSG00000044040
AA Change: P129S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.3e-46 PFAM
Pfam:7TM_GPCR_Srsx 35 302 7e-7 PFAM
Pfam:7tm_1 41 290 5.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217384
AA Change: P129S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,297,357 (GRCm39) H2378N probably benign Het
Btaf1 C A 19: 36,977,592 (GRCm39) A1470E probably damaging Het
Ccdc110 A G 8: 46,394,793 (GRCm39) D228G probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn18 T C 9: 99,578,128 (GRCm39) D205G probably benign Het
Clip2 T C 5: 134,546,876 (GRCm39) T231A probably benign Het
Cltc A G 11: 86,608,860 (GRCm39) V723A probably damaging Het
Cpa3 C T 3: 20,282,971 (GRCm39) probably null Het
Cyfip2 T G 11: 46,091,630 (GRCm39) T1097P possibly damaging Het
Dnah9 T A 11: 65,838,444 (GRCm39) R667* probably null Het
Dock10 T C 1: 80,493,339 (GRCm39) E1878G probably damaging Het
Ermap G A 4: 119,037,160 (GRCm39) H353Y probably damaging Het
Etfa A T 9: 55,393,984 (GRCm39) probably null Het
F5 C T 1: 164,001,860 (GRCm39) P188S probably damaging Het
Foxq1 G A 13: 31,743,326 (GRCm39) E143K possibly damaging Het
Gsr C T 8: 34,172,612 (GRCm39) probably benign Het
Hebp1 T A 6: 135,132,274 (GRCm39) Y31F probably benign Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Lamb1 T A 12: 31,370,907 (GRCm39) D1319E probably damaging Het
Lrp5 A T 19: 3,652,408 (GRCm39) V1154E probably benign Het
Manba G A 3: 135,212,769 (GRCm39) probably benign Het
Mknk2 A T 10: 80,503,955 (GRCm39) F319I probably damaging Het
Mup6 A T 4: 60,003,971 (GRCm39) probably benign Het
Nalcn T C 14: 123,560,726 (GRCm39) T784A probably benign Het
Nt5dc1 T C 10: 34,279,721 (GRCm39) E107G probably benign Het
Or11h6 A T 14: 50,880,214 (GRCm39) I159F probably benign Het
Or56b34 T A 7: 104,938,252 (GRCm39) F317L probably benign Het
Phldb1 T C 9: 44,622,530 (GRCm39) E41G probably damaging Het
Ptk2 T C 15: 73,170,036 (GRCm39) D309G probably benign Het
Rab11fip5 A G 6: 85,325,207 (GRCm39) S367P probably damaging Het
Rb1cc1 T A 1: 6,310,275 (GRCm39) N224K probably benign Het
Rchy1 A T 5: 92,105,405 (GRCm39) C65* probably null Het
Rgs18 T C 1: 144,650,359 (GRCm39) D56G probably benign Het
Rtraf A C 14: 19,862,296 (GRCm39) L197R probably damaging Het
Slc44a5 G T 3: 153,962,213 (GRCm39) W382L probably damaging Het
Snx24 C T 18: 53,518,241 (GRCm39) probably benign Het
Sphkap T C 1: 83,253,897 (GRCm39) D1284G probably damaging Het
Tmem54 A G 4: 129,002,111 (GRCm39) M53V probably benign Het
Trip6 G A 5: 137,308,618 (GRCm39) P414S probably benign Het
Vmn1r38 A G 6: 66,753,751 (GRCm39) Y122H probably benign Het
Wapl T A 14: 34,413,877 (GRCm39) N246K possibly damaging Het
Zfp12 G A 5: 143,230,551 (GRCm39) G293R probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp446 T G 7: 12,716,181 (GRCm39) V209G probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Or9q2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02377:Or9q2 APN 19 13,772,693 (GRCm39) missense possibly damaging 0.69
R0167:Or9q2 UTSW 19 13,772,931 (GRCm39) missense probably benign 0.03
R0602:Or9q2 UTSW 19 13,772,026 (GRCm39) splice site probably null
R1448:Or9q2 UTSW 19 13,772,140 (GRCm39) nonsense probably null
R2211:Or9q2 UTSW 19 13,772,733 (GRCm39) missense probably benign
R2295:Or9q2 UTSW 19 13,772,108 (GRCm39) missense probably damaging 1.00
R2340:Or9q2 UTSW 19 13,772,135 (GRCm39) missense probably benign 0.00
R3773:Or9q2 UTSW 19 13,772,568 (GRCm39) missense probably benign 0.00
R4596:Or9q2 UTSW 19 13,772,264 (GRCm39) missense probably damaging 1.00
R4676:Or9q2 UTSW 19 13,772,838 (GRCm39) missense possibly damaging 0.91
R4767:Or9q2 UTSW 19 13,772,409 (GRCm39) missense probably damaging 1.00
R4921:Or9q2 UTSW 19 13,772,829 (GRCm39) missense probably benign 0.03
R4930:Or9q2 UTSW 19 13,772,915 (GRCm39) missense probably benign 0.00
R5784:Or9q2 UTSW 19 13,772,710 (GRCm39) missense probably benign 0.00
R7402:Or9q2 UTSW 19 13,772,358 (GRCm39) missense probably damaging 1.00
R7473:Or9q2 UTSW 19 13,772,526 (GRCm39) missense probably benign 0.11
R8140:Or9q2 UTSW 19 13,772,603 (GRCm39) missense possibly damaging 0.91
R9112:Or9q2 UTSW 19 13,772,780 (GRCm39) missense probably damaging 0.98
R9359:Or9q2 UTSW 19 13,772,200 (GRCm39) missense probably damaging 1.00
R9375:Or9q2 UTSW 19 13,772,214 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16