Incidental Mutation 'R6623:Or52i2'
ID 524611
Institutional Source Beutler Lab
Gene Symbol Or52i2
Ensembl Gene ENSMUSG00000073969
Gene Name olfactory receptor family 52 subfamily J member 2
Synonyms GA_x6K02T2PBJ9-5386601-5387575, MOR41-1, Olfr556
MMRRC Submission 044745-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R6623 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102319108-102320130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 102319241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 38 (M38R)
Ref Sequence ENSEMBL: ENSMUSP00000150289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098219] [ENSMUST00000213485] [ENSMUST00000217526]
AlphaFold E9Q549
Predicted Effect possibly damaging
Transcript: ENSMUST00000098219
AA Change: M38R

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095822
Gene: ENSMUSG00000073969
AA Change: M38R

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 possibly damaging
Transcript: ENSMUST00000213485
AA Change: M38R

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217526
AA Change: M38R

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 100% (29/29)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,634,388 (GRCm39) K460E probably damaging Het
Acaca A C 11: 84,262,325 (GRCm39) probably null Het
Adamts1 A G 16: 85,592,525 (GRCm39) S628P probably benign Het
Ankrd13a A G 5: 114,924,818 (GRCm39) N101S probably benign Het
Asic5 G A 3: 81,915,892 (GRCm39) V281M probably damaging Het
Atxn7 T C 14: 14,099,972 (GRCm38) S553P probably damaging Het
Cstdc2 A T 2: 148,692,682 (GRCm39) I40K probably benign Het
Fndc3c1 G C X: 105,478,679 (GRCm39) L724V possibly damaging Homo
Hmcn1 A G 1: 150,634,057 (GRCm39) F843S probably benign Het
Igkv10-96 T G 6: 68,609,158 (GRCm39) S46R probably damaging Het
Itfg2 G T 6: 128,388,620 (GRCm39) A289D probably damaging Het
Klc1 C A 12: 111,772,475 (GRCm39) N597K probably damaging Het
Lnx2 A G 5: 146,961,297 (GRCm39) V545A probably damaging Het
Map3k11 A G 19: 5,745,631 (GRCm39) I344V probably damaging Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Myrf C A 19: 10,200,723 (GRCm39) A317S probably benign Het
Ncoa2 A T 1: 13,251,521 (GRCm39) C251S probably damaging Het
Pcdhb12 C T 18: 37,570,711 (GRCm39) T619I possibly damaging Het
Plxna1 A T 6: 89,299,753 (GRCm39) M1672K probably damaging Het
Prl G T 13: 27,245,492 (GRCm39) V72L probably benign Het
Prokr2 G T 2: 132,215,494 (GRCm39) N161K probably damaging Het
Ryr2 T C 13: 11,724,951 (GRCm39) D2454G probably damaging Het
Slc2a12 T A 10: 22,540,799 (GRCm39) M218K probably damaging Het
Sorcs3 C T 19: 48,776,944 (GRCm39) A992V probably benign Het
Stxbp2 T C 8: 3,682,561 (GRCm39) I50T probably damaging Het
Supt20 A G 3: 54,625,715 (GRCm39) I570M possibly damaging Het
Sv2b T A 7: 74,856,132 (GRCm39) I53F probably damaging Het
Vmn1r113 T A 7: 20,521,991 (GRCm39) M261K probably benign Het
Vmn1r217 T A 13: 23,298,846 (GRCm39) I19F possibly damaging Het
Vmn2r45 T C 7: 8,474,500 (GRCm39) T843A probably benign Het
Vmn2r69 T A 7: 85,056,309 (GRCm39) I610L possibly damaging Het
Other mutations in Or52i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Or52i2 APN 7 102,319,858 (GRCm39) missense probably damaging 1.00
IGL01662:Or52i2 APN 7 102,319,927 (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
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
Predicted Primers PCR Primer
(F):5'- GCAGAGAGATCACTACTGGC -3'
(R):5'- TGTCTCCTGAACTGAAGATGC -3'

Sequencing Primer
(F):5'- GGTCATGAAAAATACCACCAAGATG -3'
(R):5'- GATGCTCACCATCTTAGGTACCACAG -3'
Posted On 2018-06-22