Incidental Mutation 'IGL01529:Or2m12'
ID 89689
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2m12
Ensembl Gene ENSMUSG00000050742
Gene Name olfactory receptor family 2 subfamily M member 12
Synonyms MOR279-2, GA_x54KRFPKG5P-15738260-15737319, Olfr164
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL01529
Quality Score
Status
Chromosome 16
Chromosomal Location 19104544-19105491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19105450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 14 (D14E)
Ref Sequence ENSEMBL: ENSMUSP00000149971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056727] [ENSMUST00000216157]
AlphaFold Q8VF87
Predicted Effect probably benign
Transcript: ENSMUST00000056727
AA Change: D14E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000056970
Gene: ENSMUSG00000050742
AA Change: D14E

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 2.3e-49 PFAM
Pfam:7TM_GPCR_Srsx 38 308 8.2e-8 PFAM
Pfam:7tm_1 44 293 5.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216157
AA Change: D14E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c A T 7: 83,800,622 (GRCm39) I144N possibly damaging Het
Adamts19 T A 18: 59,096,535 (GRCm39) H588Q probably damaging Het
Ankrd2 A G 19: 42,028,349 (GRCm39) K46E probably damaging Het
Arhgap10 A C 8: 78,072,920 (GRCm39) L513V possibly damaging Het
Arhgef12 C A 9: 42,901,351 (GRCm39) R817L probably damaging Het
Asxl3 T A 18: 22,650,712 (GRCm39) N900K probably damaging Het
Atp9b A T 18: 80,887,826 (GRCm39) probably benign Het
Cdc27 T C 11: 104,398,042 (GRCm39) N773D probably damaging Het
Cep97 A G 16: 55,750,981 (GRCm39) probably benign Het
Dgkd T C 1: 87,808,133 (GRCm39) F67S probably damaging Het
Dolk T C 2: 30,175,749 (GRCm39) T99A probably benign Het
Egfr A T 11: 16,813,014 (GRCm39) R165W probably benign Het
Fat2 T A 11: 55,172,982 (GRCm39) D2577V probably damaging Het
Hsph1 T C 5: 149,559,499 (GRCm39) I15V probably benign Het
Idh2 T C 7: 79,747,693 (GRCm39) T276A probably benign Het
Jag1 T C 2: 136,926,897 (GRCm39) Y954C probably damaging Het
Kat2a A T 11: 100,602,735 (GRCm39) W118R probably damaging Het
Kcnh6 G T 11: 105,911,522 (GRCm39) R636L probably benign Het
Klk1b16 G T 7: 43,790,163 (GRCm39) K144N probably benign Het
Lrrk2 T A 15: 91,696,516 (GRCm39) L2435I possibly damaging Het
Ltbp3 A G 19: 5,797,867 (GRCm39) D502G probably benign Het
Ltn1 A T 16: 87,178,359 (GRCm39) N1623K probably benign Het
Mcm10 C A 2: 5,013,439 (GRCm39) E64D probably benign Het
Med13l A G 5: 118,880,400 (GRCm39) N1164S probably damaging Het
Myo1a A G 10: 127,556,529 (GRCm39) N1025D probably benign Het
Or8g27 C T 9: 39,129,427 (GRCm39) T258I probably benign Het
Pdcd11 A G 19: 47,098,068 (GRCm39) N785D probably benign Het
Psmd8 A T 7: 28,878,576 (GRCm39) I81N probably damaging Het
Rigi G A 4: 40,225,685 (GRCm39) H194Y probably benign Het
Ryr1 C T 7: 28,774,652 (GRCm39) G2330R probably damaging Het
Scrib T C 15: 75,921,084 (GRCm39) T80A possibly damaging Het
Sergef A T 7: 46,092,942 (GRCm39) W356R probably damaging Het
Slc22a19 T C 19: 7,660,300 (GRCm39) N370S probably damaging Het
Syde1 A G 10: 78,426,015 (GRCm39) S51P probably benign Het
Umodl1 A T 17: 31,215,233 (GRCm39) D1019V possibly damaging Het
Vmn2r45 A G 7: 8,486,493 (GRCm39) M265T probably benign Het
Other mutations in Or2m12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01569:Or2m12 APN 16 19,105,410 (GRCm39) missense probably benign 0.28
IGL01619:Or2m12 APN 16 19,104,909 (GRCm39) missense probably damaging 1.00
IGL02101:Or2m12 APN 16 19,105,363 (GRCm39) missense probably benign
IGL02201:Or2m12 APN 16 19,105,212 (GRCm39) missense probably benign 0.03
IGL02730:Or2m12 APN 16 19,105,432 (GRCm39) missense probably benign 0.00
IGL03228:Or2m12 APN 16 19,105,140 (GRCm39) missense probably damaging 1.00
R1566:Or2m12 UTSW 16 19,105,077 (GRCm39) missense possibly damaging 0.76
R1817:Or2m12 UTSW 16 19,104,627 (GRCm39) missense probably damaging 1.00
R1870:Or2m12 UTSW 16 19,105,357 (GRCm39) missense probably damaging 1.00
R1918:Or2m12 UTSW 16 19,105,052 (GRCm39) missense probably benign 0.03
R2202:Or2m12 UTSW 16 19,105,047 (GRCm39) missense probably benign 0.03
R2265:Or2m12 UTSW 16 19,105,305 (GRCm39) missense probably damaging 1.00
R3792:Or2m12 UTSW 16 19,104,696 (GRCm39) missense possibly damaging 0.54
R4285:Or2m12 UTSW 16 19,104,714 (GRCm39) missense probably damaging 1.00
R4961:Or2m12 UTSW 16 19,104,726 (GRCm39) missense probably damaging 1.00
R5022:Or2m12 UTSW 16 19,104,809 (GRCm39) missense probably damaging 1.00
R5432:Or2m12 UTSW 16 19,104,839 (GRCm39) missense probably benign 0.06
R5827:Or2m12 UTSW 16 19,105,182 (GRCm39) missense probably benign 0.24
R6154:Or2m12 UTSW 16 19,105,181 (GRCm39) missense probably damaging 0.99
R6188:Or2m12 UTSW 16 19,105,307 (GRCm39) missense probably damaging 1.00
R6367:Or2m12 UTSW 16 19,104,822 (GRCm39) missense probably damaging 1.00
R8508:Or2m12 UTSW 16 19,105,451 (GRCm39) missense probably benign 0.01
R8523:Or2m12 UTSW 16 19,104,851 (GRCm39) missense probably benign 0.13
R8902:Or2m12 UTSW 16 19,105,383 (GRCm39) missense probably damaging 0.98
R8953:Or2m12 UTSW 16 19,105,269 (GRCm39) missense probably benign 0.27
R9313:Or2m12 UTSW 16 19,105,100 (GRCm39) missense probably benign 0.00
R9542:Or2m12 UTSW 16 19,104,943 (GRCm39) missense probably benign 0.01
R9651:Or2m12 UTSW 16 19,105,489 (GRCm39) start codon destroyed probably null
Posted On 2013-12-03