Incidental Mutation 'R0815:Or2ak6'
ID 78578
Institutional Source Beutler Lab
Gene Symbol Or2ak6
Ensembl Gene ENSMUSG00000064044
Gene Name olfactory receptor family 2 subfamily AK member 6
Synonyms MOR285-2, GA_x6K02T2NKPP-708319-707399, Olfr319
MMRRC Submission 038995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R0815 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 58592529-58593449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58593435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 303 (R303G)
Ref Sequence ENSEMBL: ENSMUSP00000150883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076965] [ENSMUST00000215962]
AlphaFold L7MTY4
Predicted Effect possibly damaging
Transcript: ENSMUST00000076965
AA Change: R303G

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000076232
Gene: ENSMUSG00000064044
AA Change: R303G

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 3.8e-46 PFAM
Pfam:7tm_1 41 290 1.4e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215238
Predicted Effect possibly damaging
Transcript: ENSMUST00000215962
AA Change: R303G

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.3700 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Atp2a2 T C 5: 122,609,299 (GRCm39) I188V probably benign Het
Cacna1s A T 1: 136,040,695 (GRCm39) I1231F possibly damaging Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nemp1 T C 10: 127,528,893 (GRCm39) L199S probably damaging Het
Nod2 G A 8: 89,399,290 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sec31b G A 19: 44,506,612 (GRCm39) Q909* probably null Het
Slc38a11 T A 2: 65,184,124 (GRCm39) I176L possibly damaging Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Upp2 A G 2: 58,661,568 (GRCm39) T144A probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly damaging Het
Other mutations in Or2ak6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01398:Or2ak6 APN 11 58,592,593 (GRCm39) missense probably benign
IGL01955:Or2ak6 APN 11 58,592,955 (GRCm39) missense probably damaging 0.97
IGL02145:Or2ak6 APN 11 58,592,886 (GRCm39) missense probably damaging 0.99
IGL02283:Or2ak6 APN 11 58,593,102 (GRCm39) missense probably damaging 0.96
R0468:Or2ak6 UTSW 11 58,592,619 (GRCm39) missense probably damaging 1.00
R0499:Or2ak6 UTSW 11 58,593,069 (GRCm39) missense probably benign 0.01
R0885:Or2ak6 UTSW 11 58,592,913 (GRCm39) missense possibly damaging 0.93
R1081:Or2ak6 UTSW 11 58,593,324 (GRCm39) missense probably damaging 1.00
R1603:Or2ak6 UTSW 11 58,593,286 (GRCm39) missense probably benign 0.00
R1935:Or2ak6 UTSW 11 58,593,172 (GRCm39) missense probably damaging 1.00
R1936:Or2ak6 UTSW 11 58,593,172 (GRCm39) missense probably damaging 1.00
R1938:Or2ak6 UTSW 11 58,593,449 (GRCm39) makesense probably null
R2436:Or2ak6 UTSW 11 58,592,952 (GRCm39) missense probably damaging 0.97
R4243:Or2ak6 UTSW 11 58,593,277 (GRCm39) missense probably damaging 1.00
R4244:Or2ak6 UTSW 11 58,593,277 (GRCm39) missense probably damaging 1.00
R4742:Or2ak6 UTSW 11 58,592,685 (GRCm39) missense probably benign
R4801:Or2ak6 UTSW 11 58,592,617 (GRCm39) missense probably benign
R4802:Or2ak6 UTSW 11 58,592,617 (GRCm39) missense probably benign
R4927:Or2ak6 UTSW 11 58,592,633 (GRCm39) missense probably damaging 1.00
R5259:Or2ak6 UTSW 11 58,592,779 (GRCm39) missense possibly damaging 0.83
R5259:Or2ak6 UTSW 11 58,592,778 (GRCm39) missense probably benign 0.07
R5393:Or2ak6 UTSW 11 58,593,326 (GRCm39) missense probably damaging 0.97
R5471:Or2ak6 UTSW 11 58,593,151 (GRCm39) missense probably damaging 0.98
R5571:Or2ak6 UTSW 11 58,592,877 (GRCm39) missense probably damaging 1.00
R6746:Or2ak6 UTSW 11 58,593,369 (GRCm39) missense probably benign
R7045:Or2ak6 UTSW 11 58,592,495 (GRCm39) start gained probably benign
R9086:Or2ak6 UTSW 11 58,592,955 (GRCm39) missense possibly damaging 0.58
X0065:Or2ak6 UTSW 11 58,593,315 (GRCm39) missense probably benign 0.02
Z1177:Or2ak6 UTSW 11 58,592,939 (GRCm39) missense probably benign 0.02
Z1186:Or2ak6 UTSW 11 58,593,222 (GRCm39) missense probably benign
Z1186:Or2ak6 UTSW 11 58,593,153 (GRCm39) missense possibly damaging 0.95
Z1186:Or2ak6 UTSW 11 58,592,784 (GRCm39) missense probably benign
Z1187:Or2ak6 UTSW 11 58,593,222 (GRCm39) missense probably benign
Z1187:Or2ak6 UTSW 11 58,593,153 (GRCm39) missense possibly damaging 0.95
Z1187:Or2ak6 UTSW 11 58,592,784 (GRCm39) missense probably benign
Z1188:Or2ak6 UTSW 11 58,593,222 (GRCm39) missense probably benign
Z1188:Or2ak6 UTSW 11 58,593,153 (GRCm39) missense possibly damaging 0.95
Z1188:Or2ak6 UTSW 11 58,592,784 (GRCm39) missense probably benign
Z1189:Or2ak6 UTSW 11 58,593,222 (GRCm39) missense probably benign
Z1189:Or2ak6 UTSW 11 58,593,153 (GRCm39) missense possibly damaging 0.95
Z1189:Or2ak6 UTSW 11 58,592,784 (GRCm39) missense probably benign
Z1190:Or2ak6 UTSW 11 58,593,222 (GRCm39) missense probably benign
Z1190:Or2ak6 UTSW 11 58,593,153 (GRCm39) missense possibly damaging 0.95
Z1190:Or2ak6 UTSW 11 58,592,784 (GRCm39) missense probably benign
Z1191:Or2ak6 UTSW 11 58,593,222 (GRCm39) missense probably benign
Z1191:Or2ak6 UTSW 11 58,593,153 (GRCm39) missense possibly damaging 0.95
Z1191:Or2ak6 UTSW 11 58,592,784 (GRCm39) missense probably benign
Z1192:Or2ak6 UTSW 11 58,593,222 (GRCm39) missense probably benign
Z1192:Or2ak6 UTSW 11 58,593,153 (GRCm39) missense possibly damaging 0.95
Z1192:Or2ak6 UTSW 11 58,592,784 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTATTCCAGATGGGTTCAGGGCAG -3'
(R):5'- GTATCCCCAGGAGCCAACATTCAG -3'

Sequencing Primer
(F):5'- AGAGTAGAGCTGTGTCCACC -3'
(R):5'- GATTAAACCATCAACTCGGTGTGAC -3'
Posted On 2013-10-16