Incidental Mutation 'R0445:Or2y13'
ID 39327
Institutional Source Beutler Lab
Gene Symbol Or2y13
Ensembl Gene ENSMUSG00000107417
Gene Name olfactory receptor family 2 subfamily Y member 14
Synonyms Olfr1383, GA_x6K02T2QP88-5912627-5911692, MOR256-56
MMRRC Submission 038646-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.265) question?
Stock # R0445 (G1)
Quality Score 135
Status Validated
Chromosome 11
Chromosomal Location 49414552-49415487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49414784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 78 (V78E)
Ref Sequence ENSEMBL: ENSMUSP00000145258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077143] [ENSMUST00000204706] [ENSMUST00000213152] [ENSMUST00000213707] [ENSMUST00000213899] [ENSMUST00000217564]
AlphaFold Q7TQT2
Predicted Effect probably damaging
Transcript: ENSMUST00000077143
AA Change: V78E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076390
Gene: ENSMUSG00000107417
AA Change: V78E

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.4e-44 PFAM
Pfam:7tm_1 41 289 3e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204706
AA Change: V78E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145258
Gene: ENSMUSG00000107417
AA Change: V78E

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.4e-44 PFAM
Pfam:7tm_1 41 289 3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213152
Predicted Effect probably benign
Transcript: ENSMUST00000213707
Predicted Effect probably benign
Transcript: ENSMUST00000213899
Predicted Effect probably benign
Transcript: ENSMUST00000217564
Meta Mutation Damage Score 0.6973 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 100% (77/77)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A C 17: 48,400,542 (GRCm39) probably null Het
A2m C T 6: 121,634,914 (GRCm39) T687I probably damaging Het
Acsbg1 A G 9: 54,523,179 (GRCm39) S483P probably damaging Het
Adam22 T A 5: 8,230,591 (GRCm39) probably benign Het
Aggf1 A G 13: 95,490,509 (GRCm39) V595A possibly damaging Het
Aplf A T 6: 87,640,734 (GRCm39) L71I probably damaging Het
Arid3c G T 4: 41,725,172 (GRCm39) P292T probably benign Het
Bltp1 T C 3: 37,054,214 (GRCm39) V3111A probably damaging Het
Brms1l T A 12: 55,908,191 (GRCm39) Y213* probably null Het
C87436 T A 6: 86,426,832 (GRCm39) S332T possibly damaging Het
Cad G A 5: 31,230,053 (GRCm39) A1454T probably benign Het
Cdkn3 T C 14: 47,004,857 (GRCm39) probably null Het
Cnot1 A G 8: 96,486,836 (GRCm39) C624R probably damaging Het
Cntnap5c A T 17: 58,411,738 (GRCm39) I541F probably benign Het
Dennd1b A G 1: 139,095,503 (GRCm39) probably benign Het
Dscam A T 16: 96,573,703 (GRCm39) I753N probably damaging Het
Eef2 C CN 10: 81,014,604 (GRCm39) probably null Het
Epg5 T A 18: 78,057,399 (GRCm39) V1826D possibly damaging Het
Epha8 T C 4: 136,659,711 (GRCm39) Y755C probably damaging Het
Esco1 A T 18: 10,574,989 (GRCm39) N694K probably damaging Het
Fermt3 T C 19: 6,980,667 (GRCm39) H300R probably benign Het
Galnt5 C A 2: 57,888,962 (GRCm39) F187L probably benign Het
Gm17067 A G 7: 42,358,046 (GRCm39) I152T probably benign Het
Gnb3 T C 6: 124,814,218 (GRCm39) D154G possibly damaging Het
Gpr155 G A 2: 73,200,488 (GRCm39) probably benign Het
Hdac3 A G 18: 38,076,777 (GRCm39) I240T probably damaging Het
Ifitm1 A T 7: 140,548,354 (GRCm39) probably null Het
Kif1b A T 4: 149,272,466 (GRCm39) L1455Q probably benign Het
Krt1 A C 15: 101,756,056 (GRCm39) L388R probably damaging Het
Lrp1 T A 10: 127,426,505 (GRCm39) K635* probably null Het
Map3k2 A G 18: 32,350,263 (GRCm39) Y371C probably damaging Het
Mcu T C 10: 59,292,467 (GRCm39) probably benign Het
Mkrn1 C T 6: 39,381,788 (GRCm39) V167I probably benign Het
Mrpl9 T A 3: 94,352,198 (GRCm39) probably benign Het
Naip2 T C 13: 100,298,395 (GRCm39) Y547C possibly damaging Het
Nup88 G A 11: 70,838,555 (GRCm39) T487I probably benign Het
Oas3 G A 5: 120,894,210 (GRCm39) R39C probably damaging Het
Obscn C T 11: 58,890,161 (GRCm39) R7457H unknown Het
Or13c25 G A 4: 52,910,849 (GRCm39) T315M probably benign Het
Paf1 T C 7: 28,095,113 (GRCm39) S118P probably damaging Het
Parp4 T A 14: 56,840,205 (GRCm39) probably null Het
Pcdh15 A T 10: 74,178,381 (GRCm39) Y157F probably damaging Het
Pex10 G A 4: 155,153,531 (GRCm39) probably null Het
Phrf1 C T 7: 140,827,244 (GRCm39) probably benign Het
Polr3a G T 14: 24,504,989 (GRCm39) D1090E probably benign Het
Ppfia4 A C 1: 134,255,027 (GRCm39) L276R probably benign Het
Rdh16f1 T C 10: 127,626,736 (GRCm39) L263S probably benign Het
Ryr3 T C 2: 112,696,399 (GRCm39) D967G probably benign Het
Shc1 G T 3: 89,333,844 (GRCm39) A226S probably damaging Het
Slc4a1 A G 11: 102,245,192 (GRCm39) V585A probably benign Het
Stk38l T A 6: 146,677,184 (GRCm39) S461T probably benign Het
Tbkbp1 A T 11: 97,040,295 (GRCm39) S40T probably damaging Het
Tet1 A G 10: 62,715,720 (GRCm39) M25T probably benign Het
Themis A G 10: 28,658,007 (GRCm39) R192G probably damaging Het
Tmem144 T C 3: 79,732,661 (GRCm39) T206A probably benign Het
Tmem74b G A 2: 151,548,879 (GRCm39) R202H probably damaging Het
Trpm1 T C 7: 63,894,590 (GRCm39) probably benign Het
Vars1 A G 17: 35,230,785 (GRCm39) H557R probably benign Het
Zbtb12 C A 17: 35,115,277 (GRCm39) A354E possibly damaging Het
Zfp143 A T 7: 109,660,324 (GRCm39) probably benign Het
Zftraf1 T C 15: 76,532,457 (GRCm39) H217R probably damaging Het
Other mutations in Or2y13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02193:Or2y13 APN 11 49,414,571 (GRCm39) missense possibly damaging 0.56
IGL03178:Or2y13 APN 11 49,414,817 (GRCm39) missense possibly damaging 0.90
R0089:Or2y13 UTSW 11 49,415,033 (GRCm39) missense possibly damaging 0.67
R0112:Or2y13 UTSW 11 49,414,961 (GRCm39) missense possibly damaging 0.70
R0243:Or2y13 UTSW 11 49,414,739 (GRCm39) missense probably damaging 1.00
R0646:Or2y13 UTSW 11 49,415,405 (GRCm39) missense probably damaging 1.00
R1695:Or2y13 UTSW 11 49,415,162 (GRCm39) missense probably benign 0.32
R2142:Or2y13 UTSW 11 49,414,666 (GRCm39) missense probably benign 0.00
R3898:Or2y13 UTSW 11 49,415,386 (GRCm39) missense probably damaging 0.98
R4085:Or2y13 UTSW 11 49,414,955 (GRCm39) missense probably benign 0.23
R5677:Or2y13 UTSW 11 49,414,771 (GRCm39) missense probably damaging 0.98
R6187:Or2y13 UTSW 11 49,414,338 (GRCm39) unclassified probably benign
R6272:Or2y13 UTSW 11 49,414,953 (GRCm39) missense possibly damaging 0.67
R6287:Or2y13 UTSW 11 49,415,072 (GRCm39) missense probably damaging 0.99
R6898:Or2y13 UTSW 11 49,414,536 (GRCm39) unclassified probably benign
R7007:Or2y13 UTSW 11 49,415,011 (GRCm39) missense probably benign 0.15
R7452:Or2y13 UTSW 11 49,415,208 (GRCm39) missense probably benign 0.03
R7699:Or2y13 UTSW 11 49,415,381 (GRCm39) missense probably damaging 1.00
R7700:Or2y13 UTSW 11 49,415,381 (GRCm39) missense probably damaging 1.00
X0017:Or2y13 UTSW 11 49,414,829 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TCTCAGACTGGCCTCAACTGGAAC -3'
(R):5'- AGCTTCAGGAGAACAAGCATCTCAC -3'

Sequencing Primer
(F):5'- TGGCCTCAACTGGAACATATC -3'
(R):5'- TTGTCTGAGTCAGAGAGTTCACAAG -3'
Posted On 2013-05-23