Incidental Mutation 'IGL01662:Or52i2'
ID 103185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52i2
Ensembl Gene ENSMUSG00000073969
Gene Name olfactory receptor family 52 subfamily J member 2
Synonyms GA_x6K02T2PBJ9-5386601-5387575, MOR41-1, Olfr556
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # IGL01662
Quality Score
Status
Chromosome 7
Chromosomal Location 102319108-102320130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102319927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 267 (W267R)
Ref Sequence ENSEMBL: ENSMUSP00000150289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098219] [ENSMUST00000213485] [ENSMUST00000217526]
AlphaFold E9Q549
Predicted Effect probably damaging
Transcript: ENSMUST00000098219
AA Change: W267R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095822
Gene: ENSMUSG00000073969
AA Change: W267R

DomainStartEndE-ValueType
Pfam:7tm_4 35 315 1.2e-85 PFAM
Pfam:7TM_GPCR_Srsx 39 192 1.5e-13 PFAM
Pfam:7tm_1 45 297 3.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213485
AA Change: W267R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217526
AA Change: W267R

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,137,511 (GRCm39) I402F probably damaging Het
Acvr2b T C 9: 119,261,570 (GRCm39) Y388H probably damaging Het
Adh1 G A 3: 137,988,512 (GRCm39) D162N possibly damaging Het
C6 G T 15: 4,822,236 (GRCm39) R585I probably damaging Het
Ccdc169 T A 3: 55,070,732 (GRCm39) probably null Het
Cdh13 T A 8: 119,401,916 (GRCm39) M106K probably damaging Het
Cep78 C T 19: 15,938,359 (GRCm39) E530K probably damaging Het
Cyfip1 T A 7: 55,546,487 (GRCm39) L533Q probably damaging Het
Etl4 T C 2: 20,811,460 (GRCm39) V1181A probably benign Het
Galnt7 T G 8: 57,984,769 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,498 (GRCm39) R61C unknown Het
Gucy1a1 T A 3: 82,016,560 (GRCm39) I143F possibly damaging Het
Hmcn1 T C 1: 150,613,050 (GRCm39) N1410D possibly damaging Het
Ltbp2 G A 12: 84,856,020 (GRCm39) T741I probably benign Het
Mdc1 T C 17: 36,163,397 (GRCm39) S982P probably benign Het
Mfsd4b2 A G 10: 39,798,193 (GRCm39) probably benign Het
Mrgprb5 T G 7: 47,818,172 (GRCm39) I188L probably benign Het
Naip6 T A 13: 100,436,862 (GRCm39) S554C probably damaging Het
Nav2 A G 7: 49,220,957 (GRCm39) N1715D probably damaging Het
Nav3 A T 10: 109,605,119 (GRCm39) S985T possibly damaging Het
Nme7 A G 1: 164,155,866 (GRCm39) Q22R probably benign Het
Otulinl C T 15: 27,658,151 (GRCm39) D290N probably damaging Het
Pabir1 A G 19: 24,453,948 (GRCm39) V258A probably benign Het
Ppp1r9a A G 6: 5,115,322 (GRCm39) E815G probably damaging Het
Ppp2r2c T A 5: 37,083,744 (GRCm39) I95N probably damaging Het
Ppp4r4 G A 12: 103,569,225 (GRCm39) E717K possibly damaging Het
Prdm2 A G 4: 142,860,138 (GRCm39) S1051P possibly damaging Het
Rnf214 T C 9: 45,811,084 (GRCm39) D193G probably damaging Het
Sirpb1b G T 3: 15,608,244 (GRCm39) T167K probably damaging Het
Slc16a3 C A 11: 120,847,532 (GRCm39) S240* probably null Het
Snx14 T A 9: 88,267,891 (GRCm39) probably benign Het
Sorbs2 A G 8: 46,256,866 (GRCm39) probably benign Het
Stk-ps2 A T 1: 46,068,522 (GRCm39) noncoding transcript Het
Taar7b A T 10: 23,875,874 (GRCm39) D13V probably benign Het
Trp53bp1 T C 2: 121,066,506 (GRCm39) E740G probably damaging Het
Unc79 C T 12: 103,115,279 (GRCm39) A2054V possibly damaging Het
Zfp106 A G 2: 120,354,034 (GRCm39) V211A probably benign Het
Zfp112 A G 7: 23,825,379 (GRCm39) H449R probably benign Het
Other mutations in Or52i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Or52i2 APN 7 102,319,858 (GRCm39) missense probably damaging 1.00
IGL02989:Or52i2 APN 7 102,319,651 (GRCm39) missense possibly damaging 0.50
R0194:Or52i2 UTSW 7 102,319,406 (GRCm39) missense probably benign 0.01
R1670:Or52i2 UTSW 7 102,319,609 (GRCm39) missense possibly damaging 0.72
R1680:Or52i2 UTSW 7 102,319,940 (GRCm39) missense possibly damaging 0.82
R1711:Or52i2 UTSW 7 102,319,369 (GRCm39) missense probably damaging 0.98
R1768:Or52i2 UTSW 7 102,319,508 (GRCm39) missense probably damaging 1.00
R1950:Or52i2 UTSW 7 102,319,684 (GRCm39) missense probably benign 0.03
R4452:Or52i2 UTSW 7 102,319,256 (GRCm39) missense probably benign 0.00
R5564:Or52i2 UTSW 7 102,319,433 (GRCm39) missense probably damaging 1.00
R6623:Or52i2 UTSW 7 102,319,241 (GRCm39) missense possibly damaging 0.90
R7040:Or52i2 UTSW 7 102,319,937 (GRCm39) missense probably benign 0.00
R7244:Or52i2 UTSW 7 102,319,046 (GRCm39) start gained probably benign
R7300:Or52i2 UTSW 7 102,319,417 (GRCm39) missense probably benign 0.01
R8499:Or52i2 UTSW 7 102,320,012 (GRCm39) missense probably damaging 0.97
R9620:Or52i2 UTSW 7 102,320,011 (GRCm39) missense possibly damaging 0.95
R9694:Or52i2 UTSW 7 102,320,011 (GRCm39) missense possibly damaging 0.95
Posted On 2014-01-21