Incidental Mutation 'IGL01306:Or52z12'
ID 73435
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 # IGL01306
Quality Score
Chromosome 7
Chromosomal Location 103233231-103234187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103233900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 224 (Y224H)
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: Y224H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040319
Gene: ENSMUSG00000073946
AA Change: Y224H

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: Y224H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216516
AA Change: Y224H

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Ago4 T C 4: 126,409,677 (GRCm39) probably null Het
Akap12 G T 10: 4,303,273 (GRCm39) A28S probably benign Het
Anks1 C A 17: 28,205,227 (GRCm39) T262K probably damaging Het
Arfgap3 A G 15: 83,197,710 (GRCm39) Y349H possibly damaging Het
Bltp1 T C 3: 37,059,162 (GRCm39) probably benign Het
Camsap2 T A 1: 136,225,528 (GRCm39) E199D probably benign Het
Ccdc13 A T 9: 121,656,429 (GRCm39) M128K probably benign Het
Ccdc38 T C 10: 93,405,797 (GRCm39) probably null Het
Cep95 G A 11: 106,704,641 (GRCm39) V499I probably benign Het
Cpne6 A T 14: 55,752,706 (GRCm39) I299F probably damaging Het
Cse1l T A 2: 166,769,428 (GRCm39) Y278* probably null Het
Dip2c A G 13: 9,625,179 (GRCm39) N558D possibly damaging Het
Edar A T 10: 58,464,460 (GRCm39) C60S probably damaging Het
Fat2 T C 11: 55,201,698 (GRCm39) N459D probably benign Het
Fbxw8 C T 5: 118,251,785 (GRCm39) V243M possibly damaging Het
Fem1b G A 9: 62,704,810 (GRCm39) A150V possibly damaging Het
Gal3st1 A G 11: 3,948,405 (GRCm39) Y204C probably damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign Het
Itpk1 T C 12: 102,572,362 (GRCm39) E117G probably damaging Het
Kif12 G T 4: 63,084,121 (GRCm39) P627Q probably damaging Het
Krtap15-1 T A 16: 88,626,255 (GRCm39) F88L probably benign Het
Mlh1 T C 9: 111,081,980 (GRCm39) N248D possibly damaging Het
Or2i1 T C 17: 37,507,833 (GRCm39) N342S probably benign Het
Or4k15 A G 14: 50,364,039 (GRCm39) N2D probably benign Het
Per2 T C 1: 91,376,555 (GRCm39) H106R probably damaging Het
Pfkl T A 10: 77,827,229 (GRCm39) T486S probably benign Het
Prkdc T C 16: 15,485,595 (GRCm39) V474A possibly damaging Het
Scamp4 C A 10: 80,445,256 (GRCm39) Q34K probably damaging Het
Serpinb3b A G 1: 107,082,395 (GRCm39) Y290H probably damaging Het
Sft2d2 G T 1: 165,011,564 (GRCm39) A110E probably benign Het
Siglecf T A 7: 43,001,377 (GRCm39) L115* probably null Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Slco1a1 T A 6: 141,892,313 (GRCm39) K18* probably null Het
Spata1 A T 3: 146,193,154 (GRCm39) Y112* probably null Het
Tbc1d32 G A 10: 56,056,620 (GRCm39) T440I probably benign Het
Vmn2r111 T A 17: 22,787,965 (GRCm39) E462V probably damaging Het
Wnt16 C T 6: 22,297,934 (GRCm39) R267C probably damaging Het
Xylt1 A C 7: 117,148,125 (GRCm39) S230R probably benign Het
Other mutations in Or52z12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01355:Or52z12 APN 7 103,233,580 (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