Incidental Mutation 'R7244:Or52i2'
ID 563413
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 045308-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R7244 (G1)
Quality Score 176.009
Status Validated
Chromosome 7
Chromosomal Location 102319108-102320130 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to T at 102319046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098219] [ENSMUST00000213485] [ENSMUST00000217526]
AlphaFold E9Q549
Predicted Effect probably benign
Transcript: ENSMUST00000098219
SMART Domains Protein: ENSMUSP00000095822
Gene: ENSMUSG00000073969

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 benign
Transcript: ENSMUST00000213485
Predicted Effect probably benign
Transcript: ENSMUST00000217526
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (45/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,170,350 (GRCm39) F983L probably damaging Het
Cc2d1b T A 4: 108,486,799 (GRCm39) M632K probably benign Het
Cdyl2 G A 8: 117,301,999 (GRCm39) R461* probably null Het
Cfap57 G A 4: 118,411,997 (GRCm39) Q1216* probably null Het
Chd1l A T 3: 97,505,066 (GRCm39) V167E probably damaging Het
Col6a1 C A 10: 76,553,242 (GRCm39) G391* probably null Het
Ctsc C A 7: 87,951,430 (GRCm39) Q226K probably benign Het
Cyp2c54 A G 19: 40,035,953 (GRCm39) V319A probably damaging Het
Dnah7b T C 1: 46,316,303 (GRCm39) S3139P probably damaging Het
Edrf1 T C 7: 133,256,079 (GRCm39) S643P probably benign Het
Fam186a A T 15: 99,844,273 (GRCm39) V657D unknown Het
Fkbp11 A G 15: 98,626,073 (GRCm39) probably benign Het
Fsip2 G A 2: 82,823,607 (GRCm39) A6447T possibly damaging Het
H2-T9 C A 17: 36,438,496 (GRCm39) probably null Het
Hydin A G 8: 111,276,307 (GRCm39) D3017G probably damaging Het
Ifi205 G A 1: 173,845,210 (GRCm39) Q191* probably null Het
Mbd4 C T 6: 115,821,564 (GRCm39) D484N probably benign Het
Med24 C T 11: 98,605,223 (GRCm39) probably null Het
Mis18bp1 T C 12: 65,208,404 (GRCm39) N103S probably damaging Het
Mmd2 T C 5: 142,550,587 (GRCm39) H217R probably damaging Het
Mn1 C T 5: 111,566,699 (GRCm39) T223M possibly damaging Het
Ms4a4a A G 19: 11,358,794 (GRCm39) Y84C probably damaging Het
Mup5 A T 4: 61,749,818 (GRCm39) probably null Het
Mybl2 C T 2: 162,924,605 (GRCm39) P658S probably benign Het
Mycbp2 C A 14: 103,446,345 (GRCm39) V1828L probably damaging Het
Myh15 T C 16: 49,017,149 (GRCm39) Y1887H probably damaging Het
Nadk2 A G 15: 9,083,271 (GRCm39) probably null Het
Nsd3 A G 8: 26,156,055 (GRCm39) N541D probably damaging Het
Or52e8b A G 7: 104,674,148 (GRCm39) V13A probably benign Het
Oxa1l A T 14: 54,598,312 (GRCm39) M1L probably benign Het
Pcdha11 A T 18: 37,144,421 (GRCm39) R171* probably null Het
Pkd1l1 A T 11: 8,821,771 (GRCm39) V1641E Het
Pramel28 A T 4: 143,692,455 (GRCm39) M182K probably benign Het
Prom1 T A 5: 44,178,242 (GRCm39) I497L probably benign Het
Rasgef1b T C 5: 99,706,753 (GRCm39) K41E possibly damaging Het
Rasgrf1 T C 9: 89,876,810 (GRCm39) F725S probably damaging Het
Ryr2 T A 13: 11,612,032 (GRCm39) S3962C probably damaging Het
Sema5b A T 16: 35,480,915 (GRCm39) T829S probably benign Het
Tdp2 A G 13: 25,025,284 (GRCm39) D351G probably benign Het
Tet3 A T 6: 83,347,603 (GRCm39) D1130E probably damaging Het
Tg T C 15: 66,612,563 (GRCm39) C1993R probably damaging Het
Tll1 T C 8: 64,478,222 (GRCm39) I844V probably benign Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Vmn2r109 A G 17: 20,760,945 (GRCm39) V804A possibly damaging Het
Vps13c T C 9: 67,797,086 (GRCm39) V491A probably benign Het
Xpo5 G T 17: 46,525,551 (GRCm39) G233C probably 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
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
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'- ACACTCAACACCTGCATGGG -3'
(R):5'- GTACTCAGTGAGATGGCCAG -3'

Sequencing Primer
(F):5'- CTCAACACCTGCATGGGGAGAG -3'
(R):5'- GCCAGCCAAAGATAAGAAGACTG -3'
Posted On 2019-06-26