Incidental Mutation 'IGL03059:Or2y12'
ID 409365
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2y12
Ensembl Gene ENSMUSG00000063827
Gene Name olfactory receptor family 2 subfamily Y member 12
Synonyms MOR256-43P, Olfr1382, MOR256-57, GA_x6K02T2QP88-5901165-5900230
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL03059
Quality Score
Status
Chromosome 11
Chromosomal Location 49426014-49426949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49426021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 3 (Y3C)
Ref Sequence ENSEMBL: ENSMUSP00000149221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074543] [ENSMUST00000213152] [ENSMUST00000213707] [ENSMUST00000213899] [ENSMUST00000217564]
AlphaFold Q7TQT3
Predicted Effect probably benign
Transcript: ENSMUST00000074543
AA Change: Y3C

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000074130
Gene: ENSMUSG00000063827
AA Change: Y3C

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.8e-48 PFAM
Pfam:7TM_GPCR_Srsx 35 218 1.6e-5 PFAM
Pfam:7tm_1 41 289 3.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213152
AA Change: Y3C

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000213707
AA Change: Y3C

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000213899
AA Change: Y3C

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000217564
AA Change: Y3C

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg T C 16: 22,717,755 (GRCm39) V244A possibly damaging Het
Aoc1l3 A T 6: 48,964,349 (GRCm39) Y119F probably benign Het
Ccdc187 C A 2: 26,184,253 (GRCm39) R48M probably null Het
Cnga2 G A X: 71,051,878 (GRCm39) R251H probably damaging Het
Cop1 A C 1: 159,134,279 (GRCm39) K174Q probably damaging Het
Cul9 T C 17: 46,849,913 (GRCm39) D512G probably damaging Het
Flt4 G A 11: 49,533,134 (GRCm39) A1140T probably damaging Het
Galnt3 C T 2: 65,923,954 (GRCm39) R438H probably damaging Het
Gatm G A 2: 122,440,181 (GRCm39) A86V probably damaging Het
Klhl28 C T 12: 64,998,340 (GRCm39) A385T probably benign Het
Klhl40 T A 9: 121,607,203 (GRCm39) V121E probably damaging Het
L1cam T A X: 72,910,630 (GRCm39) H30L probably benign Het
Lss A T 10: 76,367,860 (GRCm39) probably benign Het
Mrnip A T 11: 50,090,596 (GRCm39) Q253H probably damaging Het
Mroh9 A T 1: 162,852,205 (GRCm39) F828Y possibly damaging Het
Mst1 T C 9: 107,962,012 (GRCm39) C668R probably damaging Het
Nadk A G 4: 155,671,253 (GRCm39) E143G probably benign Het
Nap1l4 C T 7: 143,080,902 (GRCm39) probably null Het
Nme8 A G 13: 19,836,414 (GRCm39) I254T possibly damaging Het
Or14c41 A G 7: 86,234,779 (GRCm39) I99V probably benign Het
Or1ab2 T A 8: 72,863,842 (GRCm39) L144Q probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pkd1l3 C T 8: 110,374,999 (GRCm39) L1491F probably damaging Het
Plec G T 15: 76,059,968 (GRCm39) T3488N probably damaging Het
Plk2 T G 13: 110,535,668 (GRCm39) S497A probably benign Het
Polr1a G A 6: 71,913,496 (GRCm39) V617I probably benign Het
Prelid3a C A 18: 67,609,909 (GRCm39) Y112* probably null Het
Rnf113a2 C A 12: 84,464,250 (GRCm39) S47R possibly damaging Het
Rtel1 A G 2: 180,991,976 (GRCm39) N410D probably benign Het
Ryr3 C T 2: 112,630,392 (GRCm39) A2140T probably damaging Het
Slc22a29 A G 19: 8,147,354 (GRCm39) L336P probably benign Het
Sphkap T A 1: 83,234,963 (GRCm39) Q1621L probably damaging Het
Trgc1 A T 13: 19,400,072 (GRCm39) K123* probably null Het
Ttn T A 2: 76,739,863 (GRCm39) S3559C probably benign Het
Ubr4 C T 4: 139,207,987 (GRCm39) R4923W probably damaging Het
Vac14 T C 8: 111,437,084 (GRCm39) L599P probably damaging Het
Wdr5 T C 2: 27,409,746 (GRCm39) probably benign Het
Other mutations in Or2y12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01749:Or2y12 APN 11 49,426,944 (GRCm39) missense probably damaging 0.99
R0139:Or2y12 UTSW 11 49,426,401 (GRCm39) missense probably benign 0.44
R1293:Or2y12 UTSW 11 49,426,393 (GRCm39) missense probably damaging 0.99
R1460:Or2y12 UTSW 11 49,426,504 (GRCm39) missense possibly damaging 0.67
R5151:Or2y12 UTSW 11 49,426,242 (GRCm39) missense possibly damaging 0.49
R5160:Or2y12 UTSW 11 49,426,516 (GRCm39) missense probably damaging 1.00
R6803:Or2y12 UTSW 11 49,426,432 (GRCm39) missense probably damaging 1.00
R8988:Or2y12 UTSW 11 49,426,028 (GRCm39) missense probably damaging 0.99
R9185:Or2y12 UTSW 11 49,426,501 (GRCm39) missense probably benign 0.01
R9614:Or2y12 UTSW 11 49,426,071 (GRCm39) missense probably damaging 1.00
Z1176:Or2y12 UTSW 11 49,426,080 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02