Incidental Mutation 'R1293:Or2y12'
ID 150715
Institutional Source Beutler Lab
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
MMRRC Submission 039359-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R1293 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 49426014-49426949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 49426393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 127 (C127Y)
Ref Sequence ENSEMBL: ENSMUSP00000149221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074543] [ENSMUST00000213152] [ENSMUST00000213707] [ENSMUST00000213899] [ENSMUST00000217564]
AlphaFold Q7TQT3
Predicted Effect probably damaging
Transcript: ENSMUST00000074543
AA Change: C127Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074130
Gene: ENSMUSG00000063827
AA Change: C127Y

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 damaging
Transcript: ENSMUST00000213152
AA Change: C127Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000213707
AA Change: C127Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000213899
AA Change: C127Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217564
AA Change: C127Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 G A 2: 155,393,141 (GRCm39) R289Q probably benign Het
Adgrl4 G A 3: 151,213,081 (GRCm39) E374K probably benign Het
Ate1 G A 7: 129,996,455 (GRCm39) R505C probably benign Het
Cntn4 T C 6: 106,330,685 (GRCm39) I101T probably benign Het
Dmtf1 T A 5: 9,190,383 (GRCm39) probably null Het
Dnah17 C A 11: 118,017,963 (GRCm39) probably null Het
Efhc1 A G 1: 21,048,996 (GRCm39) T470A probably damaging Het
Fam118b A T 9: 35,132,721 (GRCm39) Y313N probably damaging Het
Gm10142 T C 10: 77,551,869 (GRCm39) S77P probably benign Het
Kat8 T C 7: 127,521,422 (GRCm39) probably null Het
Lrp2 T C 2: 69,353,646 (GRCm39) probably null Het
Lrrc10 A G 10: 116,881,838 (GRCm39) T171A probably benign Het
Mcidas A G 13: 113,133,926 (GRCm39) T137A probably benign Het
Med1 G A 11: 98,047,862 (GRCm39) T978I possibly damaging Het
Muc6 C A 7: 141,238,255 (GRCm39) C75F probably damaging Het
Olfm3 A G 3: 114,895,579 (GRCm39) I154V possibly damaging Het
Or2ag15 A G 7: 106,341,058 (GRCm39) C28R probably damaging Het
Or5ak22 T A 2: 85,230,697 (GRCm39) probably null Het
Or7g30 A T 9: 19,352,728 (GRCm39) E173V probably benign Het
Rsrc1 G A 3: 67,263,612 (GRCm39) R324Q probably damaging Het
Samd9l G T 6: 3,373,947 (GRCm39) P1105T possibly damaging Het
Sgcb C A 5: 73,792,870 (GRCm39) V311F probably benign Het
Siglec1 A G 2: 130,915,451 (GRCm39) V1380A probably benign Het
Spred1 C T 2: 117,007,889 (GRCm39) P265L probably damaging Het
Unc13b T A 4: 43,235,190 (GRCm39) H3259Q probably damaging Het
Unc13c C T 9: 73,481,356 (GRCm39) D1694N probably benign Het
Usp24 A G 4: 106,280,750 (GRCm39) R2355G probably benign Het
Vmn1r53 T A 6: 90,201,196 (GRCm39) N43Y possibly damaging Het
Wtip T C 7: 33,809,646 (GRCm39) S359G possibly damaging Het
Zfp984 T A 4: 147,840,398 (GRCm39) K151M possibly damaging Het
Other mutations in Or2y12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01749:Or2y12 APN 11 49,426,944 (GRCm39) missense probably damaging 0.99
IGL03059:Or2y12 APN 11 49,426,021 (GRCm39) missense probably benign 0.28
R0139:Or2y12 UTSW 11 49,426,401 (GRCm39) missense probably benign 0.44
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
Predicted Primers PCR Primer
(F):5'- TGACTCTCTTTGGCAACACCGTG -3'
(R):5'- TTGACCTGATGTTCAGCACTGCCC -3'

Sequencing Primer
(F):5'- GATCATCATTCTGTCTCAACTGG -3'
(R):5'- CCCTGGCAATGTGAGCATAG -3'
Posted On 2014-01-29