Incidental Mutation 'R5564:Or52i2'
ID 436743
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 043121-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R5564 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102319108-102320130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102319433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 102 (F102S)
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: F102S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095822
Gene: ENSMUSG00000073969
AA Change: F102S

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: F102S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217526
AA Change: F102S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3445 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 98% (57/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T C 3: 59,659,513 (GRCm39) V322A probably benign Het
Abca8b G T 11: 109,825,407 (GRCm39) L1598M probably benign Het
Adam4 T C 12: 81,466,348 (GRCm39) T758A probably benign Het
B3galnt2 T C 13: 14,169,814 (GRCm39) I424T probably damaging Het
Cacna1g T C 11: 94,321,312 (GRCm39) Y1316C probably damaging Het
Cacna2d1 T C 5: 16,517,517 (GRCm39) S388P probably damaging Het
Ccdc157 A G 11: 4,098,765 (GRCm39) L247S probably damaging Het
Cdh8 A G 8: 99,757,498 (GRCm39) I700T possibly damaging Het
Cdhr3 G T 12: 33,098,985 (GRCm39) Y535* probably null Het
Clasp2 T C 9: 113,641,836 (GRCm39) probably null Het
Col16a1 T A 4: 129,947,151 (GRCm39) D165E probably damaging Het
Col9a1 A T 1: 24,234,436 (GRCm39) probably benign Het
Cpa3 A T 3: 20,296,307 (GRCm39) I10N possibly damaging Het
Cstf3 T A 2: 104,439,347 (GRCm39) probably benign Het
Dnah3 C A 7: 119,570,689 (GRCm39) probably null Het
E2f6 T C 12: 16,874,706 (GRCm39) C263R probably benign Het
Eps8l2 C A 7: 140,936,534 (GRCm39) Q288K possibly damaging Het
Fam193a T A 5: 34,578,199 (GRCm39) V231D probably damaging Het
Gjd3 C T 11: 102,691,029 (GRCm39) G325S probably benign Het
Gpatch8 T A 11: 102,429,111 (GRCm39) E39D unknown Het
Gpr107 C T 2: 31,042,375 (GRCm39) A2V probably damaging Het
Kansl3 G T 1: 36,385,045 (GRCm39) H629N possibly damaging Het
Kcna10 C A 3: 107,101,545 (GRCm39) H59N probably benign Het
Kitl A T 10: 99,915,886 (GRCm39) E138D possibly damaging Het
Kpna2 T C 11: 106,881,571 (GRCm39) K353R probably damaging Het
M1ap T A 6: 82,958,798 (GRCm39) I143N probably damaging Het
Macf1 A G 4: 123,420,538 (GRCm39) S239P possibly damaging Het
Med13l T A 5: 118,880,105 (GRCm39) S1066T probably damaging Het
Mettl23 G T 11: 116,739,865 (GRCm39) E47* probably null Het
Or5af1 C T 11: 58,722,039 (GRCm39) Q20* probably null Het
Proca1 T A 11: 78,092,699 (GRCm39) D48E possibly damaging Het
Rab34 T G 11: 78,082,458 (GRCm39) V227G probably damaging Het
Rab7 A T 6: 87,990,632 (GRCm39) L14Q probably damaging Het
Rasgef1c C T 11: 49,847,934 (GRCm39) S23F probably benign Het
Rit1 A G 3: 88,633,457 (GRCm39) probably benign Het
Scin T C 12: 40,174,568 (GRCm39) T172A probably benign Het
Scmh1 C A 4: 120,325,575 (GRCm39) N97K probably damaging Het
Skint6 T C 4: 112,846,162 (GRCm39) E655G possibly damaging Het
Slc22a15 A G 3: 101,771,905 (GRCm39) V243A probably benign Het
Smg1 A G 7: 117,789,042 (GRCm39) probably benign Het
Smim7 C T 8: 73,324,867 (GRCm39) G3R probably damaging Het
Snurf C T 7: 59,645,282 (GRCm39) R44H possibly damaging Het
Snx13 G A 12: 35,174,471 (GRCm39) A667T possibly damaging Het
Sowaha T G 11: 53,369,590 (GRCm39) H382P probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tmem259 G T 10: 79,814,442 (GRCm39) probably null Het
Topbp1 A G 9: 103,211,277 (GRCm39) T945A probably damaging Het
Tor1aip2 T C 1: 155,939,307 (GRCm39) probably benign Het
Ube3b T C 5: 114,527,136 (GRCm39) V118A probably damaging Het
Usp38 T C 8: 81,711,717 (GRCm39) K773E probably damaging Het
Wnk1 G A 6: 119,925,852 (GRCm39) probably benign Het
Zfp871 A G 17: 32,994,842 (GRCm39) V111A 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
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
Predicted Primers PCR Primer
(F):5'- GCCATCTCACTGAGTACCATG -3'
(R):5'- CTACATTGGAGGCACAAAATGG -3'

Sequencing Primer
(F):5'- GCCATCTCACTGAGTACCATGTATAG -3'
(R):5'- TGGCAAATGACTCAACATCCAACTC -3'
Posted On 2016-10-24