Incidental Mutation 'IGL01355:Or52z12'
ID 75486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52z12
Ensembl Gene ENSMUSG00000073946
Gene Name olfactory receptor family 52 subfamily Z member 12
Synonyms GA_x6K02T2PBJ9-6306819-6307775, Olfr617, MOR31-10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01355
Quality Score
Chromosome 7
Chromosomal Location 103233231-103234187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103233580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 117 (E117G)
Ref Sequence ENSEMBL: ENSMUSP00000149045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048265] [ENSMUST00000215755] [ENSMUST00000216516]
AlphaFold Q8VGA1
Predicted Effect probably damaging
Transcript: ENSMUST00000048265
AA Change: E117G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040319
Gene: ENSMUSG00000073946
AA Change: E117G

Pfam:7tm_4 37 316 8.5e-109 PFAM
Pfam:7TM_GPCR_Srsx 41 225 2.3e-10 PFAM
Pfam:7tm_1 47 299 4.6e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179692
Predicted Effect probably damaging
Transcript: ENSMUST00000215755
AA Change: E117G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216516
AA Change: E117G

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajap1 C T 4: 153,470,938 (GRCm39) V290I probably damaging Het
Ankrd12 A G 17: 66,277,335 (GRCm39) probably benign Het
Anxa4 A T 6: 86,729,187 (GRCm39) I140N probably damaging Het
Asap2 A G 12: 21,268,087 (GRCm39) probably benign Het
Cd36 C T 5: 18,018,072 (GRCm39) V214I possibly damaging Het
Col24a1 T C 3: 145,020,637 (GRCm39) L336S probably benign Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Gpr146 A T 5: 139,364,659 (GRCm39) probably benign Het
Irf1 T C 11: 53,665,187 (GRCm39) V188A probably benign Het
Limk1 G A 5: 134,686,754 (GRCm39) probably benign Het
Mcidas T C 13: 113,135,603 (GRCm39) F342S probably damaging Het
Mctp1 A G 13: 76,533,074 (GRCm39) T141A probably benign Het
Mnd1 C A 3: 84,023,784 (GRCm39) A101S probably benign Het
Nsun7 T C 5: 66,452,211 (GRCm39) S466P probably damaging Het
Or2m13 C T 16: 19,226,333 (GRCm39) M145I probably benign Het
Or4g16 T A 2: 111,137,438 (GRCm39) I296K probably benign Het
Pik3c2g G T 6: 139,798,583 (GRCm39) G371V probably damaging Het
Sdad1 A G 5: 92,450,538 (GRCm39) V199A probably damaging Het
Spg11 C T 2: 121,943,637 (GRCm39) V172I probably benign Het
Tas2r108 A G 6: 40,470,685 (GRCm39) T54A possibly damaging Het
Tmem121b A G 6: 120,469,427 (GRCm39) L430P probably damaging Het
Traf3ip1 A G 1: 91,446,019 (GRCm39) D384G probably damaging Het
Trank1 A G 9: 111,194,588 (GRCm39) T871A possibly damaging Het
Vegfa T C 17: 46,336,347 (GRCm39) M258V possibly damaging Het
Zbtb49 A G 5: 38,367,960 (GRCm39) probably null Het
Other mutations in Or52z12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Or52z12 APN 7 103,233,900 (GRCm39) missense probably damaging 1.00
IGL01411:Or52z12 APN 7 103,233,324 (GRCm39) missense probably damaging 1.00
IGL01412:Or52z12 APN 7 103,234,114 (GRCm39) missense probably damaging 1.00
IGL02379:Or52z12 APN 7 103,234,099 (GRCm39) missense possibly damaging 0.84
ANU23:Or52z12 UTSW 7 103,233,900 (GRCm39) missense probably damaging 1.00
IGL03054:Or52z12 UTSW 7 103,234,047 (GRCm39) missense probably benign 0.23
R0536:Or52z12 UTSW 7 103,233,468 (GRCm39) missense probably damaging 1.00
R4222:Or52z12 UTSW 7 103,233,966 (GRCm39) missense probably damaging 1.00
R4224:Or52z12 UTSW 7 103,233,966 (GRCm39) missense probably damaging 1.00
R5342:Or52z12 UTSW 7 103,234,035 (GRCm39) missense probably benign 0.05
R5587:Or52z12 UTSW 7 103,233,738 (GRCm39) missense probably benign 0.07
R5607:Or52z12 UTSW 7 103,233,506 (GRCm39) nonsense probably null
R5608:Or52z12 UTSW 7 103,233,506 (GRCm39) nonsense probably null
R6904:Or52z12 UTSW 7 103,233,727 (GRCm39) missense possibly damaging 0.83
R6929:Or52z12 UTSW 7 103,233,651 (GRCm39) missense probably damaging 0.98
R7399:Or52z12 UTSW 7 103,233,588 (GRCm39) missense possibly damaging 0.78
R7607:Or52z12 UTSW 7 103,234,137 (GRCm39) missense probably damaging 0.97
R7771:Or52z12 UTSW 7 103,233,297 (GRCm39) missense probably benign 0.33
Z1177:Or52z12 UTSW 7 103,234,154 (GRCm39) missense probably benign
Z1177:Or52z12 UTSW 7 103,233,906 (GRCm39) missense probably benign 0.41
Posted On 2013-10-07