Incidental Mutation 'R1603:Or2ak6'
ID 176269
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 039640-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R1603 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 58592529-58593449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58593286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 253 (V253A)
Ref Sequence ENSEMBL: ENSMUSP00000150883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076965] [ENSMUST00000215962]
AlphaFold L7MTY4
Predicted Effect probably benign
Transcript: ENSMUST00000076965
AA Change: V253A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000076232
Gene: ENSMUSG00000064044
AA Change: V253A

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 benign
Transcript: ENSMUST00000215962
AA Change: V253A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency 96% (65/68)
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
1110032F04Rik G A 3: 68,777,546 (GRCm39) S169N probably benign Het
Ace T A 11: 105,862,925 (GRCm39) S315R probably benign Het
Adamtsl1 A G 4: 86,333,767 (GRCm39) I1491V probably benign Het
Adrb2 A T 18: 62,312,579 (GRCm39) M82K probably damaging Het
Aebp2 A G 6: 140,587,979 (GRCm39) N350D probably damaging Het
Ankrd42 T C 7: 92,268,899 (GRCm39) probably benign Het
Asap1 A T 15: 64,001,106 (GRCm39) C492S probably damaging Het
Atp8b3 C A 10: 80,361,619 (GRCm39) A768S probably benign Het
Chga T A 12: 102,530,866 (GRCm39) probably null Het
Clca4b A G 3: 144,627,780 (GRCm39) V397A probably benign Het
Cntnap5a A C 1: 116,339,831 (GRCm39) T697P possibly damaging Het
Col12a1 T C 9: 79,520,244 (GRCm39) Q2810R probably damaging Het
Dchs1 G T 7: 105,411,977 (GRCm39) R1380S probably benign Het
Dgkg T A 16: 22,388,909 (GRCm39) probably benign Het
Dlgap3 G A 4: 127,089,021 (GRCm39) G206R probably damaging Het
Dnah5 A G 15: 28,295,131 (GRCm39) probably benign Het
Dnah5 A T 15: 28,449,326 (GRCm39) I4243L probably benign Het
Eif1ad16 C A 12: 87,985,134 (GRCm39) E136D probably benign Het
Fbxw22 G T 9: 109,207,915 (GRCm39) P452H probably benign Het
Fgl1 T A 8: 41,650,055 (GRCm39) D242V probably damaging Het
Gba2 C T 4: 43,567,823 (GRCm39) G794R probably damaging Het
Gimap7 A T 6: 48,700,864 (GRCm39) D150V probably damaging Het
Gm5334 T C 7: 68,268,620 (GRCm39) V13A probably benign Het
Grk5 T C 19: 61,057,800 (GRCm39) F167L probably benign Het
Ice1 A G 13: 70,751,472 (GRCm39) L1538P probably benign Het
Idh2 T G 7: 79,748,906 (GRCm39) E125A probably damaging Het
Kmt2a A T 9: 44,752,858 (GRCm39) probably null Het
Kras A T 6: 145,170,871 (GRCm39) L168* probably null Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Mak T C 13: 41,195,582 (GRCm39) D377G possibly damaging Het
Matn2 T C 15: 34,388,914 (GRCm39) C335R probably damaging Het
Mcoln2 C T 3: 145,885,977 (GRCm39) S276F probably damaging Het
Morc3 C A 16: 93,663,391 (GRCm39) N531K probably benign Het
Obp2a G A 2: 25,592,757 (GRCm39) S175N probably benign Het
Or4n4b T G 14: 50,536,491 (GRCm39) I92L possibly damaging Het
Or5an1b A T 19: 12,299,348 (GRCm39) V281E probably damaging Het
Osbpl3 C A 6: 50,300,073 (GRCm39) K510N probably damaging Het
Pcnx2 G A 8: 126,566,365 (GRCm39) S1026F probably damaging Het
Pom121l2 A T 13: 22,167,514 (GRCm39) D595V probably damaging Het
Poteg T A 8: 27,938,033 (GRCm39) M1K probably null Het
Rbl1 G A 2: 157,017,579 (GRCm39) L547F possibly damaging Het
Rpap3 T C 15: 97,599,002 (GRCm39) T82A possibly damaging Het
Sema7a G A 9: 57,867,959 (GRCm39) D512N probably benign Het
Sgpl1 C T 10: 60,941,230 (GRCm39) V294M possibly damaging Het
Slc22a28 A G 19: 8,040,674 (GRCm39) S526P probably damaging Het
Spata31e2 T A 1: 26,724,650 (GRCm39) R177W probably damaging Het
Tent2 G A 13: 93,312,073 (GRCm39) A209V probably benign Het
Trim30b T G 7: 104,015,019 (GRCm39) Q123P possibly damaging Het
Trpm5 A G 7: 142,638,946 (GRCm39) L275P probably benign Het
Ttc33 A G 15: 5,219,275 (GRCm39) E71G probably damaging Het
Unc13d T C 11: 115,964,481 (GRCm39) T288A possibly damaging Het
Unc93a T A 17: 13,328,521 (GRCm39) E444V probably benign Het
Usf3 T A 16: 44,038,535 (GRCm39) M1005K probably benign Het
Vmn2r91 T C 17: 18,326,405 (GRCm39) I230T probably benign Het
Wdr49 G A 3: 75,304,177 (GRCm39) Q448* probably null Het
Zfp939 T A 7: 39,122,695 (GRCm39) noncoding transcript 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
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'- AGCAGCAGCTCCATCAATGCTTTAG -3'
(R):5'- TGTGACACTGTGTGGGCAAAGATTC -3'

Sequencing Primer
(F):5'- TGTGTGTGAAGACACATCCC -3'
(R):5'- TCATTCCAGAGAGTGTCCAAG -3'
Posted On 2014-04-24