Incidental Mutation 'IGL02486:Or52m1'
ID 295422
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 # IGL02486
Quality Score
Status
Chromosome 7
Chromosomal Location 102289455-102290408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102289627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 58 (H58L)
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: H58L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095824
Gene: ENSMUSG00000073971
AA Change: H58L

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: H58L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215995
AA Change: H58L

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik T A X: 111,424,955 (GRCm39) N147K probably benign Het
Abtb3 C A 10: 85,476,419 (GRCm39) P900H probably damaging Het
Bcas1 T C 2: 170,248,318 (GRCm39) D201G probably damaging Het
Bmp1 T A 14: 70,742,216 (GRCm39) D333V possibly damaging Het
Capn6 T C X: 142,587,673 (GRCm39) E535G probably benign Het
Cdin1 T C 2: 115,607,487 (GRCm39) V280A possibly damaging Het
Chac2 T C 11: 30,927,625 (GRCm39) D86G probably damaging Het
Col14a1 T A 15: 55,252,092 (GRCm39) probably benign Het
Daam1 T C 12: 71,993,919 (GRCm39) probably benign Het
Elapor2 T A 5: 9,472,323 (GRCm39) V340E probably benign Het
Eno4 A G 19: 58,934,097 (GRCm39) probably null Het
Fat1 T C 8: 45,478,109 (GRCm39) V2385A probably benign Het
Ffar4 T C 19: 38,102,208 (GRCm39) I281T possibly damaging Het
Flcn C T 11: 59,691,869 (GRCm39) W260* probably null Het
Fry T G 5: 150,414,642 (GRCm39) S496A probably damaging Het
Gk T A X: 84,759,274 (GRCm39) I373F possibly damaging Het
Gpr108 T C 17: 57,542,977 (GRCm39) N528S probably damaging Het
Hey1 T A 3: 8,731,579 (GRCm39) R50W probably damaging Het
Hgf A G 5: 16,807,287 (GRCm39) Y393C probably damaging Het
Hmcn2 A T 2: 31,310,107 (GRCm39) E3260D probably damaging Het
Ift172 A G 5: 31,414,927 (GRCm39) I1365T probably damaging Het
Letmd1 A G 15: 100,372,992 (GRCm39) R31G probably damaging Het
Mak16 T C 8: 31,650,614 (GRCm39) probably benign Het
Mapkapk3 C T 9: 107,166,467 (GRCm39) G26D probably damaging Het
Mphosph8 T C 14: 56,925,844 (GRCm39) V603A possibly damaging Het
Myom1 G T 17: 71,406,939 (GRCm39) probably benign Het
Neb T A 2: 52,172,615 (GRCm39) N1564I possibly damaging Het
Nox1 C T X: 132,993,560 (GRCm39) G433D probably damaging Het
Or11h6 T C 14: 50,880,089 (GRCm39) F111S probably damaging Het
Or2n1b T A 17: 38,460,112 (GRCm39) L211Q probably damaging Het
Or51i2 T C 7: 103,689,617 (GRCm39) S205P probably damaging Het
Rcc2 T C 4: 140,437,673 (GRCm39) W135R probably damaging Het
Rgl2 A G 17: 34,154,954 (GRCm39) I205V probably damaging Het
Robo4 G A 9: 37,319,670 (GRCm39) G640E probably damaging Het
Slc26a5 A G 5: 22,051,323 (GRCm39) F64L probably damaging Het
Slc27a2 A G 2: 126,395,270 (GRCm39) T66A probably benign Het
St18 T C 1: 6,890,307 (GRCm39) S580P probably damaging Het
Syt15 G A 14: 33,944,933 (GRCm39) R160K probably damaging Het
Tmem63b A G 17: 45,984,909 (GRCm39) S200P probably damaging Het
Tnks T A 8: 35,318,352 (GRCm39) N841I probably damaging Het
Tnr G A 1: 159,679,664 (GRCm39) probably null Het
Unc13d A G 11: 115,960,632 (GRCm39) probably benign Het
Usp4 T C 9: 108,228,228 (GRCm39) L74P probably damaging Het
Other mutations in Or52m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02622:Or52m1 APN 7 102,290,290 (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