Incidental Mutation 'R7300:Or52i2'
ID 566924
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 045404-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R7300 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102319108-102320130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102319417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 97 (S97G)
Ref Sequence ENSEMBL: ENSMUSP00000149041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098219] [ENSMUST00000213485] [ENSMUST00000217526]
AlphaFold E9Q549
Predicted Effect probably benign
Transcript: ENSMUST00000098219
AA Change: S97G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000095822
Gene: ENSMUSG00000073969
AA Change: S97G

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
AA Change: S97G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000217526
AA Change: S97G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Meta Mutation Damage Score 0.1300 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 94% (45/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Adgrd1 T C 5: 129,174,411 (GRCm39) probably null Het
Atr T C 9: 95,747,423 (GRCm39) I235T probably benign Het
Bpifb5 A G 2: 154,070,066 (GRCm39) E172G possibly damaging Het
Btbd2 A T 10: 80,480,100 (GRCm39) I420N probably damaging Het
Ccdc141 G A 2: 76,845,038 (GRCm39) T1343I probably benign Het
Cd59b A T 2: 103,914,795 (GRCm39) K64N possibly damaging Het
Cd63 A G 10: 128,748,034 (GRCm39) N144S probably benign Het
Cip2a A G 16: 48,834,217 (GRCm39) K631E probably damaging Het
Col4a4 C T 1: 82,464,361 (GRCm39) R989Q unknown Het
Cyp4a31 A G 4: 115,427,468 (GRCm39) T225A probably benign Het
Dnah1 T G 14: 30,991,798 (GRCm39) E3068A probably benign Het
Fpgt C T 3: 154,792,612 (GRCm39) V472I probably damaging Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Homer3 T C 8: 70,737,953 (GRCm39) M1T probably null Het
Ighv1-4 T C 12: 114,450,908 (GRCm39) I67V probably benign Het
Il17ra A G 6: 120,459,063 (GRCm39) D738G probably benign Het
Il2ra A G 2: 11,681,721 (GRCm39) T109A not run Het
Itgb6 T C 2: 60,435,650 (GRCm39) D700G probably benign Het
Krt31 T C 11: 99,938,612 (GRCm39) E327G probably damaging Het
Large1 A C 8: 73,564,224 (GRCm39) L514R probably damaging Het
Map3k8 C T 18: 4,349,076 (GRCm39) V81M probably damaging Het
Mstn T C 1: 53,103,239 (GRCm39) S192P probably benign Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or13a27 A T 7: 139,925,268 (GRCm39) N211K probably damaging Het
Or2n1c A C 17: 38,519,588 (GRCm39) T151P possibly damaging Het
Or2y1c C T 11: 49,361,473 (GRCm39) T165I probably benign Het
Or7g17 T C 9: 18,768,530 (GRCm39) I194T not run Het
Or8k25 T C 2: 86,244,330 (GRCm39) E22G probably null Het
Pde4a T C 9: 21,117,618 (GRCm39) S627P probably damaging Het
Pdxdc1 A G 16: 13,697,374 (GRCm39) I102T probably damaging Het
Phldb2 A G 16: 45,645,925 (GRCm39) S174P probably damaging Het
Pla2g4e C T 2: 120,021,680 (GRCm39) V143I probably damaging Het
Pou4f2 C T 8: 79,162,735 (GRCm39) probably null Het
Ppl C T 16: 4,920,235 (GRCm39) V387M possibly damaging Het
Pramel43 A T 5: 94,760,655 (GRCm39) D340E probably benign Het
Rarg A T 15: 102,160,852 (GRCm39) probably null Het
Ryr1 T C 7: 28,758,936 (GRCm39) Y3414C probably damaging Het
Serpinb8 T A 1: 107,535,053 (GRCm39) *375K probably null Het
Sim1 C T 10: 50,785,614 (GRCm39) H228Y probably benign Het
Spag4 A T 2: 155,907,541 (GRCm39) H87L probably benign Het
Ttc17 A T 2: 94,205,479 (GRCm39) L289Q probably damaging Het
Ubac2 T C 14: 122,142,586 (GRCm39) L28P probably damaging Het
Vmn2r31 C A 7: 7,387,775 (GRCm39) A599S possibly damaging Het
Vps13c T C 9: 67,847,826 (GRCm39) V2196A probably benign Het
Zswim5 A T 4: 116,833,102 (GRCm39) I612F probably damaging Het
Zzef1 T A 11: 72,765,830 (GRCm39) H1452Q probably benign 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
R7244:Or52i2 UTSW 7 102,319,046 (GRCm39) start gained probably benign
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'- GGCCATCTCACTGAGTACCATG -3'
(R):5'- CTACATTGGAGGCACAAAATGG -3'

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