Incidental Mutation 'R6746:Or2ak6'
ID 532848
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 044863-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6746 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 58592529-58593449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58593369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 281 (V281I)
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: V281I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076232
Gene: ENSMUSG00000064044
AA Change: V281I

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 3.8e-46 PFAM
Pfam:7tm_1 41 290 1.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215962
AA Change: V281I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 100% (58/58)
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
Abca17 A T 17: 24,565,195 (GRCm39) L79* probably null Het
Acot3 A G 12: 84,100,248 (GRCm39) N8S probably benign Het
Adora2a T C 10: 75,169,442 (GRCm39) V302A probably benign Het
Anpep A C 7: 79,488,933 (GRCm39) probably null Het
Arrb1 A G 7: 99,250,357 (GRCm39) K392E probably benign Het
Atp8a1 A T 5: 67,908,392 (GRCm39) N444K probably benign Het
Bltp3b T A 10: 89,623,020 (GRCm39) N298K probably benign Het
Brinp2 C T 1: 158,094,160 (GRCm39) G181R probably benign Het
Cacna1g A T 11: 94,300,253 (GRCm39) C2184* probably null Het
Cacna1h C T 17: 25,600,524 (GRCm39) A1606T probably damaging Het
Ccdc30 T C 4: 119,213,915 (GRCm39) T205A probably benign Het
Celsr1 A G 15: 85,915,696 (GRCm39) I759T probably damaging Het
Chaf1a A G 17: 56,370,404 (GRCm39) D623G possibly damaging Het
Col6a3 G T 1: 90,706,767 (GRCm39) N2115K unknown Het
Dync1h1 A T 12: 110,618,087 (GRCm39) T3209S probably damaging Het
Erich6 T C 3: 58,523,987 (GRCm39) D629G possibly damaging Het
Fahd1 G T 17: 25,068,915 (GRCm39) A54E probably damaging Het
Flrt3 C T 2: 140,501,945 (GRCm39) R561Q probably damaging Het
Grm6 A T 11: 50,747,790 (GRCm39) D334V probably damaging Het
Helb A T 10: 119,941,373 (GRCm39) D438E probably damaging Het
Hmgcs1 T C 13: 120,156,585 (GRCm39) probably null Het
Hnf4g C A 3: 3,722,170 (GRCm39) Y441* probably null Het
Hspa13 A T 16: 75,561,925 (GRCm39) N91K possibly damaging Het
Ilvbl T C 10: 78,413,057 (GRCm39) I193T possibly damaging Het
Itga7 T C 10: 128,785,341 (GRCm39) V848A probably benign Het
Kash5 C T 7: 44,849,735 (GRCm39) V63I probably benign Het
Lpin1 A G 12: 16,615,529 (GRCm39) M341T probably benign Het
Lypd5 G T 7: 24,052,531 (GRCm39) probably null Het
Mrgprb1 A C 7: 48,097,645 (GRCm39) V89G possibly damaging Het
Nsun7 T C 5: 66,441,080 (GRCm39) probably null Het
Oasl1 T A 5: 115,075,242 (GRCm39) V434E probably damaging Het
Or7g22 A G 9: 19,048,774 (GRCm39) M162V probably benign Het
Or8k16 T C 2: 85,519,952 (GRCm39) Y60H probably damaging Het
Otor T A 2: 142,921,955 (GRCm39) probably null Het
Pik3cg G A 12: 32,244,757 (GRCm39) T899M probably damaging Het
Plaat5 A G 19: 7,590,695 (GRCm39) D74G probably benign Het
Pld2 C A 11: 70,431,933 (GRCm39) L52M probably damaging Het
Pon3 A T 6: 5,230,786 (GRCm39) M247K possibly damaging Het
Ppfia2 C A 10: 106,742,319 (GRCm39) Y1037* probably null Het
Ppm1m A T 9: 106,075,351 (GRCm39) C99* probably null Het
Prss44 A T 9: 110,644,361 (GRCm39) *145C probably null Het
Ptpro T A 6: 137,371,821 (GRCm39) Y613N probably damaging Het
Ralgapb T G 2: 158,318,056 (GRCm39) V866G probably damaging Het
Rassf6 C A 5: 90,757,633 (GRCm39) R109L possibly damaging Het
Rbm4b A C 19: 4,812,031 (GRCm39) T147P probably benign Het
Rpl7l1 T C 17: 47,090,322 (GRCm39) K104R probably benign Het
Ryr1 A T 7: 28,816,829 (GRCm39) I69N possibly damaging Het
Scd1 G T 19: 44,394,927 (GRCm39) F99L probably benign Het
Semp2l1 A T 1: 32,585,844 (GRCm39) I22N probably benign Het
Spint2 A T 7: 28,958,848 (GRCm39) S66T probably benign Het
Tarm1 T A 7: 3,550,978 (GRCm39) I2F probably benign Het
Tenm4 T C 7: 96,542,067 (GRCm39) V1860A probably damaging Het
Usp38 A G 8: 81,740,920 (GRCm39) I49T possibly damaging Het
Vars2 A G 17: 35,971,294 (GRCm39) probably null Het
Vmn2r27 T G 6: 124,177,552 (GRCm39) H484P possibly damaging Het
Wdr35 T A 12: 9,053,982 (GRCm39) probably null Het
Zfp937 A T 2: 150,081,343 (GRCm39) K458* probably null 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
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
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'- TATTCCAGATGGGTTCAGGGC -3'
(R):5'- TGTGACACTGTGTGGGCAAAG -3'

Sequencing Primer
(F):5'- TGGGTTCAGGGCAGGGAC -3'
(R):5'- CACTGTGTGGGCAAAGATTCC -3'
Posted On 2018-08-29