Incidental Mutation 'IGL02720:Or52m2'
ID 304956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52m2
Ensembl Gene ENSMUSG00000073972
Gene Name olfactory receptor family 52 subfamily M member 2
Synonyms Olfr553, MOR25-2, GA_x6K02T2PBJ9-5333671-5332712
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02720
Quality Score
Status
Chromosome 7
Chromosomal Location 102263214-102264194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102264046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 50 (G50E)
Ref Sequence ENSEMBL: ENSMUSP00000149901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098222] [ENSMUST00000216776]
AlphaFold Q7TRS6
Predicted Effect probably damaging
Transcript: ENSMUST00000098222
AA Change: G50E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095825
Gene: ENSMUSG00000073972
AA Change: G50E

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 probably damaging
Transcript: ENSMUST00000216776
AA Change: G50E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,122,702 (GRCm39) probably benign Het
Adgrv1 A G 13: 81,726,991 (GRCm39) S454P probably damaging Het
Adh4 A T 3: 138,124,981 (GRCm39) I51F possibly damaging Het
Amigo2 A T 15: 97,143,578 (GRCm39) C281* probably null Het
Btn2a2 C T 13: 23,664,637 (GRCm39) R307Q probably benign Het
C2cd6 T C 1: 59,090,307 (GRCm39) I483M probably damaging Het
Capn9 T C 8: 125,327,236 (GRCm39) probably benign Het
Carmil3 A G 14: 55,744,867 (GRCm39) K1279E probably damaging Het
Cdadc1 T C 14: 59,823,496 (GRCm39) Y332C probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cep112 T G 11: 108,750,177 (GRCm39) F893L probably damaging Het
Cit A G 5: 116,133,511 (GRCm39) S1867G probably benign Het
Clptm1l T C 13: 73,762,721 (GRCm39) probably benign Het
Cyp4a12b A T 4: 115,292,368 (GRCm39) probably benign Het
Dlx3 G T 11: 95,014,470 (GRCm39) W251L possibly damaging Het
Dnah1 C T 14: 30,984,177 (GRCm39) V3993M probably damaging Het
Efs A T 14: 55,157,172 (GRCm39) Y380N probably damaging Het
Fam53c T A 18: 34,903,720 (GRCm39) W331R probably damaging Het
Gm5414 T C 15: 101,533,990 (GRCm39) E331G probably damaging Het
Gstcd A G 3: 132,777,722 (GRCm39) V363A probably benign Het
Jak1 A G 4: 101,021,647 (GRCm39) probably benign Het
Kifc3 A G 8: 95,834,993 (GRCm39) V264A probably benign Het
Mapk8ip2 A G 15: 89,341,785 (GRCm39) D332G probably damaging Het
Nbeal1 G A 1: 60,323,146 (GRCm39) E2075K probably damaging Het
Opn5 T G 17: 42,907,517 (GRCm39) S120R probably damaging Het
Paqr8 C T 1: 21,005,733 (GRCm39) Q296* probably null Het
Pcsk6 C T 7: 65,629,995 (GRCm39) R374* probably null Het
Pld1 A G 3: 28,141,411 (GRCm39) H469R probably damaging Het
Rbl1 A G 2: 157,041,349 (GRCm39) S93P possibly damaging Het
Reln C T 5: 22,202,939 (GRCm39) R1287Q probably damaging Het
Rev3l C T 10: 39,698,391 (GRCm39) R963* probably null Het
Serinc4 C T 2: 121,282,908 (GRCm39) S418N probably benign Het
Slc6a18 A G 13: 73,818,087 (GRCm39) M310T probably benign Het
Slitrk3 T A 3: 72,958,101 (GRCm39) S224C probably damaging Het
Slu7 T C 11: 43,336,030 (GRCm39) I471T probably benign Het
Stxbp5 A G 10: 9,665,105 (GRCm39) probably null Het
Tm7sf3 A T 6: 146,514,872 (GRCm39) probably benign Het
Trem1 C T 17: 48,539,869 (GRCm39) S16L probably benign Het
Trp53bp2 T A 1: 182,281,289 (GRCm39) D963E probably benign Het
Trp63 A T 16: 25,682,491 (GRCm39) D184V probably damaging Het
Ttll6 T C 11: 96,042,899 (GRCm39) probably null Het
Usp32 A G 11: 84,897,817 (GRCm39) probably null Het
Vmn2r14 A T 5: 109,369,305 (GRCm39) N89K probably damaging Het
Vmn2r76 T C 7: 85,874,914 (GRCm39) R688G probably benign Het
Vmn2r93 A T 17: 18,525,296 (GRCm39) H318L probably damaging Het
Vstm4 A G 14: 32,585,574 (GRCm39) H47R probably damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Ybx2 T A 11: 69,831,157 (GRCm39) S56T probably benign Het
Ybx2 C A 11: 69,831,158 (GRCm39) S251Y probably benign Het
Zbtb3 T C 19: 8,781,578 (GRCm39) probably null 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
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
R3406:Or52m2 UTSW 7 102,263,993 (GRCm39) missense possibly damaging 0.92
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
Posted On 2015-04-16