Incidental Mutation 'R0468:Or2ak6'
ID 41758
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 038668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R0468 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 58592529-58593449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58592619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 31 (I31F)
Ref Sequence ENSEMBL: ENSMUSP00000150883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076965] [ENSMUST00000215962]
AlphaFold L7MTY4
Predicted Effect probably damaging
Transcript: ENSMUST00000076965
AA Change: I31F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076232
Gene: ENSMUSG00000064044
AA Change: I31F

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 probably damaging
Transcript: ENSMUST00000215962
AA Change: I31F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.1925 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (61/61)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,240,084 (GRCm39) H1298R possibly damaging Het
5530400C23Rik T C 6: 133,271,421 (GRCm39) L155P probably benign Het
6820408C15Rik A T 2: 152,283,186 (GRCm39) R283S probably benign Het
Aldh1l2 T A 10: 83,354,542 (GRCm39) E104D probably benign Het
Anxa3 T C 5: 96,958,958 (GRCm39) V22A probably benign Het
Bcl7b T C 5: 135,209,737 (GRCm39) F188L probably benign Het
Brinp1 T A 4: 68,681,013 (GRCm39) I506F probably damaging Het
Bsdc1 T C 4: 129,355,511 (GRCm39) probably benign Het
Ccdc180 T C 4: 45,923,271 (GRCm39) I1075T possibly damaging Het
Cep162 A G 9: 87,075,750 (GRCm39) L1294P probably damaging Het
Cltc G A 11: 86,595,452 (GRCm39) probably benign Het
Col11a1 T C 3: 114,010,707 (GRCm39) probably benign Het
Col14a1 A T 15: 55,252,042 (GRCm39) Y566F unknown Het
Dhx29 A G 13: 113,099,811 (GRCm39) Q1148R probably benign Het
Ehbp1 A G 11: 22,119,184 (GRCm39) probably benign Het
Ehd3 A G 17: 74,112,374 (GRCm39) H46R probably damaging Het
Fam171a1 T C 2: 3,226,433 (GRCm39) V522A probably benign Het
Gm4553 C A 7: 141,719,362 (GRCm39) C22F unknown Het
Hibadh C T 6: 52,534,755 (GRCm39) probably benign Het
Hspg2 G A 4: 137,260,840 (GRCm39) C1613Y probably damaging Het
Hydin G T 8: 111,139,855 (GRCm39) C708F possibly damaging Het
Ifi208 A T 1: 173,511,047 (GRCm39) M401L probably benign Het
Igsf8 G A 1: 172,146,363 (GRCm39) V454M probably damaging Het
Irx4 G T 13: 73,414,839 (GRCm39) probably benign Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kcnn2 C T 18: 45,692,538 (GRCm39) T38M possibly damaging Het
L3mbtl3 C T 10: 26,203,630 (GRCm39) R400H unknown Het
Lrp6 T C 6: 134,462,624 (GRCm39) T679A possibly damaging Het
Map9 T C 3: 82,281,510 (GRCm39) probably null Het
Men1 T A 19: 6,386,953 (GRCm39) V5E probably null Het
Mettl14 T C 3: 123,165,061 (GRCm39) D93G probably damaging Het
Neb G T 2: 52,101,568 (GRCm39) R4601S probably damaging Het
Nell1 A G 7: 49,878,594 (GRCm39) T272A probably damaging Het
Or10ag53 A T 2: 87,082,599 (GRCm39) N106I probably benign Het
Pclo C A 5: 14,727,302 (GRCm39) probably benign Het
Pdia5 A G 16: 35,217,877 (GRCm39) L502P probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plxna4 C A 6: 32,192,181 (GRCm39) C803F probably damaging Het
Pmfbp1 A G 8: 110,240,600 (GRCm39) probably null Het
Ptgs1 A G 2: 36,139,205 (GRCm39) Y468C probably damaging Het
Pxdn G T 12: 30,044,485 (GRCm39) G488W probably damaging Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Sec31b T A 19: 44,506,947 (GRCm39) probably benign Het
Shank3 G A 15: 89,433,478 (GRCm39) V1333I probably benign Het
Slamf1 A G 1: 171,619,939 (GRCm39) probably benign Het
Slc23a3 T A 1: 75,109,874 (GRCm39) Q131L possibly damaging Het
Slc7a11 A G 3: 50,338,500 (GRCm39) V303A probably damaging Het
Slc7a13 T A 4: 19,841,500 (GRCm39) V449D probably benign Het
Srp68 A T 11: 116,139,590 (GRCm39) I453K probably damaging Het
Steap3 A T 1: 120,162,030 (GRCm39) V414D probably damaging Het
Tagln2 A G 1: 172,333,788 (GRCm39) N131D probably benign Het
Tmem132d T C 5: 128,346,267 (GRCm39) Y85C probably damaging Het
Vcam1 A T 3: 115,909,595 (GRCm39) Y577* probably null Het
Vmn1r214 A G 13: 23,219,423 (GRCm39) T306A probably benign Het
Zfyve1 A T 12: 83,602,048 (GRCm39) probably benign Het
Zgrf1 T A 3: 127,355,690 (GRCm39) N305K 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
R0499:Or2ak6 UTSW 11 58,593,069 (GRCm39) missense probably benign 0.01
R0815:Or2ak6 UTSW 11 58,593,435 (GRCm39) missense possibly damaging 0.84
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'- TGTATGCTCAAGGACAGTCCTCACC -3'
(R):5'- GTCATAGGACATGAAGCCCAGCAG -3'

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