Incidental Mutation 'IGL02622:Or52m1'
ID 300878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52m1
Ensembl Gene ENSMUSG00000073971
Gene Name olfactory receptor family 52 subfamily M member 1
Synonyms GA_x6K02T2PBJ9-5356887-5357840, Olfr554, MOR25-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL02622
Quality Score
Status
Chromosome 7
Chromosomal Location 102289455-102290408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102290290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 279 (L279Q)
Ref Sequence ENSEMBL: ENSMUSP00000150338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098221] [ENSMUST00000214841] [ENSMUST00000215995]
AlphaFold E9Q546
Predicted Effect probably damaging
Transcript: ENSMUST00000098221
AA Change: L279Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095824
Gene: ENSMUSG00000073971
AA Change: L279Q

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 3.3e-108 PFAM
Pfam:7TM_GPCR_Srsx 37 152 4.7e-10 PFAM
Pfam:7tm_1 43 295 1.7e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214841
AA Change: L279Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215995
AA Change: L279Q

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik C T 5: 109,887,101 (GRCm39) V32M possibly damaging Het
Abca1 T C 4: 53,034,046 (GRCm39) D2228G probably damaging Het
Actr5 A G 2: 158,480,728 (GRCm39) K582R probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Atp7b T C 8: 22,518,454 (GRCm39) D128G possibly damaging Het
Cemip C A 7: 83,613,383 (GRCm39) G605V probably damaging Het
Cep112 A G 11: 108,409,509 (GRCm39) H133R probably benign Het
Cops3 C T 11: 59,723,864 (GRCm39) D98N probably benign Het
Crlf3 T C 11: 79,950,150 (GRCm39) D160G probably damaging Het
Csn1s1 T C 5: 87,825,501 (GRCm39) probably null Het
Ddx60 C A 8: 62,395,470 (GRCm39) probably null Het
Depdc1a T A 3: 159,221,147 (GRCm39) N159K probably benign Het
Dsg3 A T 18: 20,662,004 (GRCm39) probably benign Het
Eif4g3 A C 4: 137,824,677 (GRCm39) probably benign Het
Ercc6l2 T A 13: 64,001,437 (GRCm39) probably null Het
Fbxw19 T A 9: 109,322,602 (GRCm39) M123L probably benign Het
Fus T A 7: 127,584,794 (GRCm39) L100H probably damaging Het
Gm29247 A G 1: 44,146,269 (GRCm39) probably benign Het
Gucy2e T C 11: 69,115,857 (GRCm39) T842A probably damaging Het
Inpp4a A T 1: 37,418,115 (GRCm39) Q519L probably benign Het
Kcnip1 C A 11: 33,593,290 (GRCm39) probably benign Het
Lyst T A 13: 13,855,975 (GRCm39) L2432H probably damaging Het
Mastl A G 2: 23,022,857 (GRCm39) V622A probably benign Het
Myh15 A G 16: 48,997,317 (GRCm39) T1712A probably benign Het
Nlrp1a T C 11: 71,013,826 (GRCm39) T475A possibly damaging Het
Nr4a3 G A 4: 48,051,649 (GRCm39) M134I probably benign Het
Or2a56 T G 6: 42,932,663 (GRCm39) V77G probably damaging Het
Or5p60 T A 7: 107,723,595 (GRCm39) I292F probably damaging Het
Paqr6 T G 3: 88,273,085 (GRCm39) I52S probably damaging Het
Pcdhb4 T A 18: 37,442,721 (GRCm39) L677Q probably benign Het
Phax C T 18: 56,717,372 (GRCm39) R250* probably null Het
Pkn3 A G 2: 29,973,158 (GRCm39) D356G probably benign Het
Pnpla2 T C 7: 141,035,285 (GRCm39) L29P probably damaging Het
Rad18 G A 6: 112,664,948 (GRCm39) T62I probably damaging Het
Riok3 C T 18: 12,276,017 (GRCm39) R238C probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sccpdh G T 1: 179,504,025 (GRCm39) G125W probably damaging Het
Skint11 T A 4: 114,051,925 (GRCm39) L91H probably damaging Het
Slc25a45 A G 19: 5,928,725 (GRCm39) probably benign Het
Slco2a1 C T 9: 102,954,128 (GRCm39) Q370* probably null Het
Szt2 A G 4: 118,250,087 (GRCm39) S474P probably damaging Het
Tchh C A 3: 93,350,719 (GRCm39) T53K probably damaging Het
Tiam1 T C 16: 89,595,588 (GRCm39) T1298A possibly damaging Het
Tmem161a C T 8: 70,633,887 (GRCm39) Q183* probably null Het
Trim26 C A 17: 37,161,797 (GRCm39) A72E probably damaging Het
Trmt11 A T 10: 30,435,169 (GRCm39) I330K probably benign Het
Tspan1 A G 4: 116,021,052 (GRCm39) probably benign Het
Ubr4 C A 4: 139,194,561 (GRCm39) C4286* probably null Het
Unc13a T C 8: 72,105,158 (GRCm39) probably null Het
Vmn1r20 T A 6: 57,409,583 (GRCm39) F303Y probably damaging Het
Washc2 T C 6: 116,190,979 (GRCm39) probably benign Het
Xab2 C T 8: 3,661,699 (GRCm39) D585N probably benign Het
Ythdc2 C T 18: 44,993,001 (GRCm39) L791F probably damaging Het
Zfp319 C A 8: 96,055,589 (GRCm39) V205F probably damaging Het
Zscan25 A T 5: 145,227,512 (GRCm39) H392L probably damaging Het
Zswim6 A T 13: 107,884,786 (GRCm39) noncoding transcript Het
Other mutations in Or52m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02486:Or52m1 APN 7 102,289,627 (GRCm39) missense probably damaging 1.00
R0550:Or52m1 UTSW 7 102,290,157 (GRCm39) missense possibly damaging 0.84
R4051:Or52m1 UTSW 7 102,290,233 (GRCm39) missense possibly damaging 0.90
R5817:Or52m1 UTSW 7 102,289,585 (GRCm39) missense probably damaging 1.00
R7278:Or52m1 UTSW 7 102,290,190 (GRCm39) missense probably damaging 1.00
R7427:Or52m1 UTSW 7 102,289,533 (GRCm39) missense probably benign
R7428:Or52m1 UTSW 7 102,289,533 (GRCm39) missense probably benign
R8234:Or52m1 UTSW 7 102,289,678 (GRCm39) missense probably damaging 1.00
R8954:Or52m1 UTSW 7 102,289,882 (GRCm39) missense probably benign 0.03
R9792:Or52m1 UTSW 7 102,289,788 (GRCm39) missense probably benign 0.02
R9793:Or52m1 UTSW 7 102,289,788 (GRCm39) missense probably benign 0.02
Z1177:Or52m1 UTSW 7 102,289,609 (GRCm39) missense possibly damaging 0.46
Posted On 2015-04-16