Incidental Mutation 'R3406:Or52m2'
ID 259382
Institutional Source Beutler Lab
Gene Symbol Or52m2
Ensembl Gene ENSMUSG00000073972
Gene Name olfactory receptor family 52 subfamily M member 2
Synonyms Olfr553, MOR25-2, GA_x6K02T2PBJ9-5333671-5332712
MMRRC Submission 040624-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R3406 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102263214-102264194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102263993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 68 (M68V)
Ref Sequence ENSEMBL: ENSMUSP00000149901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098222] [ENSMUST00000216776]
AlphaFold Q7TRS6
Predicted Effect possibly damaging
Transcript: ENSMUST00000098222
AA Change: M68V

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095825
Gene: ENSMUSG00000073972
AA Change: M68V

DomainStartEndE-ValueType
Pfam:7tm_4 40 319 1.1e-108 PFAM
Pfam:7TM_GPCR_Srsx 44 158 1.3e-9 PFAM
Pfam:7tm_1 50 302 4.9e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216776
AA Change: M68V

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 98% (52/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,859,338 (GRCm39) M1K probably null Het
Adam34l A T 8: 44,079,089 (GRCm39) C378* probably null Het
Bdkrb2 T C 12: 105,558,755 (GRCm39) V332A possibly damaging Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Chd4 C A 6: 125,098,970 (GRCm39) T1586K probably benign Het
Cnga3 A G 1: 37,301,146 (GRCm39) E622G probably benign Het
Dbh A G 2: 27,064,977 (GRCm39) D396G possibly damaging Het
Dhodh G A 8: 110,330,107 (GRCm39) R86* probably null Het
Dpt A C 1: 164,624,500 (GRCm39) E67A probably damaging Het
Eif2ak2 A G 17: 79,166,068 (GRCm39) probably benign Het
Esp4 T A 17: 40,913,336 (GRCm39) L68M possibly damaging Het
Exo1 A G 1: 175,733,536 (GRCm39) K787E possibly damaging Het
Fbxo38 T C 18: 62,647,914 (GRCm39) T875A probably damaging Het
Gsdma T C 11: 98,563,964 (GRCm39) probably benign Het
Hemk1 G A 9: 107,214,415 (GRCm39) Q6* probably null Het
Hmcn2 C T 2: 31,323,284 (GRCm39) probably benign Het
Hook2 A G 8: 85,720,613 (GRCm39) probably benign Het
Irx3 A G 8: 92,525,555 (GRCm39) S507P unknown Het
Kazn C A 4: 141,966,506 (GRCm39) probably benign Het
Kcne4 C T 1: 78,795,688 (GRCm39) A112V possibly damaging Het
Lamb1 C T 12: 31,337,528 (GRCm39) R372C probably damaging Het
Lrrc30 A G 17: 67,939,175 (GRCm39) L135P probably damaging Het
Lyst T A 13: 13,809,815 (GRCm39) M495K possibly damaging Het
Mab21l3 C A 3: 101,730,847 (GRCm39) V131F probably damaging Het
Mki67 T A 7: 135,309,204 (GRCm39) T416S probably benign Het
Mlst8 A T 17: 24,697,099 (GRCm39) M56K probably benign Het
Mmp9 A G 2: 164,791,310 (GRCm39) Y160C probably damaging Het
Mslnl A G 17: 25,965,155 (GRCm39) Y507C probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myl12a A T 17: 71,301,737 (GRCm39) M130K probably benign Het
Nalf2 A G X: 98,889,109 (GRCm39) I325V probably benign Het
Ncdn C T 4: 126,642,388 (GRCm39) R423Q probably benign Het
Ncf2 A G 1: 152,701,698 (GRCm39) probably benign Het
Nek8 G T 11: 78,061,572 (GRCm39) S319* probably null Het
Or11g7 G A 14: 50,690,653 (GRCm39) C48Y probably benign Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Pcdhb15 C A 18: 37,608,442 (GRCm39) A558E probably benign Het
Plrg1 T A 3: 82,978,526 (GRCm39) W431R probably damaging Het
Rbfox3 T A 11: 118,387,283 (GRCm39) Q277L possibly damaging Het
Rpgrip1 G A 14: 52,382,666 (GRCm39) D600N possibly damaging Het
Siah3 A G 14: 75,763,421 (GRCm39) D224G probably damaging Het
Slc22a6 T C 19: 8,598,675 (GRCm39) L244P probably damaging Het
Stap2 A T 17: 56,304,511 (GRCm39) W374R probably benign Het
Tbck T A 3: 132,432,845 (GRCm39) N418K probably benign Het
Tcp11x2 T C X: 134,555,733 (GRCm39) N474S probably damaging Het
Tenm3 A C 8: 48,681,590 (GRCm39) V2680G probably damaging Het
Thada A T 17: 84,538,213 (GRCm39) probably benign Het
Tlr6 C T 5: 65,110,772 (GRCm39) V712M probably damaging Het
Uvssa G T 5: 33,547,162 (GRCm39) G243C probably damaging Het
Vwa8 T A 14: 79,401,660 (GRCm39) probably benign Het
Znrf2 A T 6: 54,861,776 (GRCm39) N229I probably damaging Het
Other mutations in Or52m2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Or52m2 APN 7 102,263,379 (GRCm39) missense probably benign 0.18
IGL01957:Or52m2 APN 7 102,263,546 (GRCm39) missense probably damaging 0.98
IGL02720:Or52m2 APN 7 102,264,046 (GRCm39) missense probably damaging 1.00
IGL03052:Or52m2 UTSW 7 102,263,656 (GRCm39) missense probably benign 0.00
R1812:Or52m2 UTSW 7 102,263,577 (GRCm39) missense possibly damaging 0.95
R1994:Or52m2 UTSW 7 102,263,747 (GRCm39) missense probably damaging 0.97
R4575:Or52m2 UTSW 7 102,263,976 (GRCm39) nonsense probably null
R5527:Or52m2 UTSW 7 102,263,768 (GRCm39) missense probably benign
R6823:Or52m2 UTSW 7 102,263,693 (GRCm39) missense probably damaging 0.99
R7224:Or52m2 UTSW 7 102,263,974 (GRCm39) missense probably damaging 1.00
R7603:Or52m2 UTSW 7 102,264,145 (GRCm39) missense probably benign
R7823:Or52m2 UTSW 7 102,264,164 (GRCm39) missense probably benign 0.00
R8260:Or52m2 UTSW 7 102,263,432 (GRCm39) missense possibly damaging 0.91
R8542:Or52m2 UTSW 7 102,263,872 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCAAGAAAGATGCCCGACTC -3'
(R):5'- AACCTGGCATTGAGAGCACC -3'

Sequencing Primer
(F):5'- GATGCCCGACTCAACAGTAG -3'
(R):5'- ATTGAGAGCACCTCTATGTATCC -3'
Posted On 2015-01-23