Incidental Mutation 'R4927:Or2ak6'
ID 380917
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 042528-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R4927 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 58592529-58593449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58592633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 35 (F35L)
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: F35L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000076232
Gene: ENSMUSG00000064044
AA Change: F35L

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: F35L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.3574 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 97% (76/78)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adamts2 T A 11: 50,694,639 (GRCm39) L1142* probably null Het
Arl13b C A 16: 62,622,150 (GRCm39) G381V probably damaging Het
Ash1l G T 3: 88,892,641 (GRCm39) V1507F probably damaging Het
Babam2 T A 5: 31,859,408 (GRCm39) F38I probably benign Het
Bend4 T C 5: 67,557,619 (GRCm39) Y399C probably damaging Het
Btn1a1 A T 13: 23,644,794 (GRCm39) probably null Het
Cacna1g A T 11: 94,319,973 (GRCm39) L1401Q probably damaging Het
Ccdc192 C T 18: 57,863,888 (GRCm39) Q213* probably null Het
Cep192 T C 18: 67,968,195 (GRCm39) V893A probably benign Het
Cnot10 A T 9: 114,447,012 (GRCm39) Y355N probably damaging Het
Col6a5 G C 9: 105,811,163 (GRCm39) S785R unknown Het
Cpa3 A G 3: 20,276,303 (GRCm39) L310P probably damaging Het
Cux2 A G 5: 122,015,152 (GRCm39) I247T probably benign Het
Dab1 A G 4: 104,561,449 (GRCm39) T245A probably benign Het
Dmrta1 A T 4: 89,579,985 (GRCm39) D315V probably damaging Het
Dnah12 T A 14: 26,583,762 (GRCm39) L599* probably null Het
Dync1h1 T C 12: 110,629,289 (GRCm39) I4231T possibly damaging Het
Fat1 T C 8: 45,476,000 (GRCm39) V1659A probably damaging Het
Flot2 G A 11: 77,949,888 (GRCm39) V406M probably damaging Het
Galnt2 A G 8: 125,032,362 (GRCm39) D75G probably damaging Het
Gcnt3 A T 9: 69,942,464 (GRCm39) C35S probably damaging Het
Gp2 A G 7: 119,052,118 (GRCm39) F199L probably benign Het
Gramd2b C T 18: 56,618,523 (GRCm39) P244S probably damaging Het
Hhipl1 T C 12: 108,278,203 (GRCm39) L177P probably damaging Het
Homez T C 14: 55,095,264 (GRCm39) E148G possibly damaging Het
Kcnab3 G A 11: 69,217,572 (GRCm39) C22Y possibly damaging Het
Kcnh8 C A 17: 53,185,009 (GRCm39) S430R probably damaging Het
Kcnn2 T C 18: 45,692,798 (GRCm39) C125R probably benign Het
Klhl7 G A 5: 24,346,185 (GRCm39) R277Q possibly damaging Het
Krt78 A G 15: 101,855,334 (GRCm39) S826P probably benign Het
Krtap14 T C 16: 88,622,919 (GRCm39) Y20C possibly damaging Het
Lrcol1 A G 5: 110,502,163 (GRCm39) probably null Het
Lrrc10b G A 19: 10,434,226 (GRCm39) P152S probably damaging Het
Lrrn3 C G 12: 41,503,124 (GRCm39) D398H probably damaging Het
Map3k19 T C 1: 127,749,932 (GRCm39) I1140V probably benign Het
Mos G A 4: 3,871,093 (GRCm39) T241M probably damaging Het
Nol8 A G 13: 49,807,901 (GRCm39) E39G possibly damaging Het
Olfm1 T G 2: 28,104,798 (GRCm39) S212A probably benign Het
Pip4p2 G T 4: 14,912,458 (GRCm39) R189L probably damaging Het
Plec G T 15: 76,061,162 (GRCm39) T2947K probably damaging Het
Pramel27 A T 4: 143,578,187 (GRCm39) Q149L probably damaging Het
Rasgrp3 A G 17: 75,823,350 (GRCm39) M474V probably benign Het
Ryr1 T C 7: 28,719,408 (GRCm39) Y4333C unknown Het
Scrn2 G C 11: 96,924,326 (GRCm39) probably null Het
Slc22a12 C A 19: 6,587,791 (GRCm39) V388L probably benign Het
Slc4a11 A G 2: 130,526,866 (GRCm39) V754A probably damaging Het
Slco2b1 A G 7: 99,335,195 (GRCm39) F195S probably damaging Het
Slfn9 A C 11: 82,872,216 (GRCm39) M840R possibly damaging Het
Speer4b T C 5: 27,706,263 (GRCm39) N35D probably damaging Het
Taf1d T A 9: 15,221,250 (GRCm39) D185E probably damaging Het
Taok2 A G 7: 126,475,213 (GRCm39) L245P probably damaging Het
Tent4a A T 13: 69,651,019 (GRCm39) probably null Het
Ticam2 T C 18: 46,693,846 (GRCm39) I80M probably damaging Het
Tmem268 G A 4: 63,502,164 (GRCm39) V331I probably benign Het
Tsga10 T C 1: 37,840,931 (GRCm39) E425G probably damaging Het
Ttc7 A G 17: 87,654,133 (GRCm39) probably null Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Unc13a T C 8: 72,107,489 (GRCm39) H601R probably damaging Het
Vmn2r102 A T 17: 19,880,661 (GRCm39) M1L probably benign Het
Vmn2r120 G T 17: 57,816,125 (GRCm39) N743K probably damaging Het
Wnt6 C A 1: 74,823,295 (GRCm39) probably null Het
Wnt6 A C 1: 74,823,296 (GRCm39) probably null Het
Wnt8a T A 18: 34,680,525 (GRCm39) C297S probably damaging Het
Zfp786 T C 6: 47,797,087 (GRCm39) Q617R probably benign Het
Zfp91 A G 19: 12,753,774 (GRCm39) probably null Het
Zw10 T A 9: 48,979,983 (GRCm39) F371L probably 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
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
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'- AAGAAGGATAGAAGTGTTCCCTAC -3'
(R):5'- CCTAAAACGGAAATGGCCTTGG -3'

Sequencing Primer
(F):5'- GAAGTGTTCCCTACAGCTAGTCCAG -3'
(R):5'- GTGTCTGAGATGAAGTTAGCTCCC -3'
Posted On 2016-04-15