Incidental Mutation 'R7752:Or1ak2'
ID 597277
Institutional Source Beutler Lab
Gene Symbol Or1ak2
Ensembl Gene ENSMUSG00000070943
Gene Name olfactory receptor family 1 subfamily AK member 2
Synonyms Olfr356, GA_x6K02T2NLDC-33631647-33632594, MOR134-1
MMRRC Submission 045808-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7752 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 36827133-36828080 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36827630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 166 (L166F)
Ref Sequence ENSEMBL: ENSMUSP00000092631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095021]
AlphaFold Q8VFP5
Predicted Effect probably damaging
Transcript: ENSMUST00000095021
AA Change: L166F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092631
Gene: ENSMUSG00000070943
AA Change: L166F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.1e-52 PFAM
Pfam:7tm_1 41 290 4.9e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg2 A T 5: 137,665,966 (GRCm39) F98I probably damaging Het
Akap13 T A 7: 75,327,006 (GRCm39) N668K possibly damaging Het
Aox4 G A 1: 58,293,107 (GRCm39) V868I not run Het
Ccdc39 T C 3: 33,886,766 (GRCm39) R281G possibly damaging Het
Ccnt1 A T 15: 98,441,797 (GRCm39) D490E probably benign Het
Cfhr2 T A 1: 139,741,322 (GRCm39) I218F probably damaging Het
Clcn4 T C 7: 7,296,936 (GRCm39) K234R probably benign Het
Col4a2 A T 8: 11,479,358 (GRCm39) D747V probably benign Het
Cplane1 A G 15: 8,299,190 (GRCm39) E3126G unknown Het
Csf1r T A 18: 61,243,368 (GRCm39) L128Q probably damaging Het
Dcp1b G T 6: 119,152,318 (GRCm39) R22L possibly damaging Het
Ddx6 T G 9: 44,538,960 (GRCm39) F256C probably damaging Het
Diras1 C T 10: 80,857,895 (GRCm39) V119M probably damaging Het
Ect2l T A 10: 18,017,712 (GRCm39) D681V possibly damaging Het
Eme1 G T 11: 94,541,645 (GRCm39) P59Q probably damaging Het
Farp1 G C 14: 121,495,359 (GRCm39) E605Q probably damaging Het
Frem1 G T 4: 82,877,614 (GRCm39) T1321K probably benign Het
Gcn1 T A 5: 115,753,627 (GRCm39) L2326Q probably damaging Het
Gpld1 T A 13: 25,146,758 (GRCm39) V240E probably damaging Het
Gpr4 C A 7: 18,956,340 (GRCm39) H87Q probably damaging Het
Ifi213 A T 1: 173,394,784 (GRCm39) S584T probably benign Het
Il36b C T 2: 24,048,826 (GRCm39) T77M possibly damaging Het
Inf2 A G 12: 112,576,118 (GRCm39) E865G unknown Het
Klk1b1 T C 7: 43,620,669 (GRCm39) I253T probably damaging Het
Lcmt1 G T 7: 122,969,030 (GRCm39) M8I unknown Het
Mrs2 T A 13: 25,202,549 (GRCm39) D64V possibly damaging Het
Ms4a20 A G 19: 11,079,224 (GRCm39) I148T probably benign Het
Muc4 A G 16: 32,589,108 (GRCm39) Y755C Het
Ncoa3 T A 2: 165,907,688 (GRCm39) L1099* probably null Het
Nlrp6 T C 7: 140,507,353 (GRCm39) V873A possibly damaging Het
Nup155 C T 15: 8,145,926 (GRCm39) P159L possibly damaging Het
Or10v1 A T 19: 11,873,898 (GRCm39) H171L probably benign Het
Or4m1 A T 14: 50,557,573 (GRCm39) S240T probably damaging Het
Pex5 A G 6: 124,380,860 (GRCm39) S255P probably damaging Het
Pex5 T C 6: 124,390,977 (GRCm39) T58A probably benign Het
Phip T G 9: 82,772,203 (GRCm39) M1115L probably benign Het
Ppl T G 16: 4,920,166 (GRCm39) S410R probably benign Het
Ppp1r17 G A 6: 55,999,441 (GRCm39) D25N probably damaging Het
Pramel51 T C 12: 88,142,769 (GRCm39) E478G probably damaging Het
Prox2 T A 12: 85,134,815 (GRCm39) I489F probably damaging Het
Ptprb C G 10: 116,205,333 (GRCm39) P1896A probably benign Het
Rgl2 T C 17: 34,154,799 (GRCm39) L601P possibly damaging Het
Sash1 C T 10: 8,656,328 (GRCm39) W221* probably null Het
Skint1 A C 4: 111,876,399 (GRCm39) T107P probably damaging Het
Slc41a2 A G 10: 83,091,905 (GRCm39) S453P possibly damaging Het
Sox11 A T 12: 27,391,439 (GRCm39) N323K probably damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Thbd C A 2: 148,248,894 (GRCm39) V325L probably damaging Het
Tmco5 T C 2: 116,722,743 (GRCm39) F288S probably damaging Het
Traj16 T C 14: 54,440,645 (GRCm39) Y19H unknown Het
Trip11 A G 12: 101,853,233 (GRCm39) V454A probably benign Het
Tsg101 G T 7: 46,563,183 (GRCm39) Q24K probably benign Het
Ttn T C 2: 76,555,370 (GRCm39) E30545G probably damaging Het
Unkl T C 17: 25,437,627 (GRCm39) S200P probably damaging Het
Vwa2 T A 19: 56,897,672 (GRCm39) I659N probably damaging Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Zfp592 T G 7: 80,674,469 (GRCm39) S478A probably benign Het
Zfp664 A T 5: 124,962,839 (GRCm39) K78* probably null Het
Zfp738 A T 13: 67,821,110 (GRCm39) L79* probably null Het
Zfyve28 C T 5: 34,382,326 (GRCm39) R258Q probably damaging Het
Other mutations in Or1ak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02209:Or1ak2 APN 2 36,827,517 (GRCm39) missense probably damaging 1.00
IGL02457:Or1ak2 APN 2 36,827,760 (GRCm39) missense probably damaging 0.99
IGL02933:Or1ak2 APN 2 36,827,310 (GRCm39) missense probably damaging 1.00
IGL03304:Or1ak2 APN 2 36,827,560 (GRCm39) missense probably damaging 0.99
IGL03350:Or1ak2 APN 2 36,827,595 (GRCm39) missense probably damaging 1.00
IGL03050:Or1ak2 UTSW 2 36,827,635 (GRCm39) missense probably damaging 0.99
R0124:Or1ak2 UTSW 2 36,827,268 (GRCm39) missense possibly damaging 0.80
R1447:Or1ak2 UTSW 2 36,827,788 (GRCm39) missense possibly damaging 0.54
R1591:Or1ak2 UTSW 2 36,827,990 (GRCm39) missense probably damaging 1.00
R1651:Or1ak2 UTSW 2 36,827,335 (GRCm39) missense probably damaging 0.99
R1689:Or1ak2 UTSW 2 36,827,989 (GRCm39) missense probably damaging 1.00
R1876:Or1ak2 UTSW 2 36,827,775 (GRCm39) missense possibly damaging 0.80
R2132:Or1ak2 UTSW 2 36,827,704 (GRCm39) missense probably benign 0.00
R2308:Or1ak2 UTSW 2 36,827,312 (GRCm39) nonsense probably null
R3004:Or1ak2 UTSW 2 36,827,221 (GRCm39) missense possibly damaging 0.64
R4180:Or1ak2 UTSW 2 36,827,242 (GRCm39) missense probably damaging 0.98
R4445:Or1ak2 UTSW 2 36,827,563 (GRCm39) missense probably damaging 0.99
R5096:Or1ak2 UTSW 2 36,827,815 (GRCm39) missense possibly damaging 0.64
R5971:Or1ak2 UTSW 2 36,827,241 (GRCm39) missense probably benign 0.01
R5988:Or1ak2 UTSW 2 36,827,236 (GRCm39) missense probably damaging 1.00
R6138:Or1ak2 UTSW 2 36,827,241 (GRCm39) missense probably benign 0.01
R6544:Or1ak2 UTSW 2 36,827,539 (GRCm39) missense possibly damaging 0.68
R7206:Or1ak2 UTSW 2 36,827,784 (GRCm39) missense probably damaging 1.00
R7854:Or1ak2 UTSW 2 36,828,036 (GRCm39) missense probably benign
R8110:Or1ak2 UTSW 2 36,827,721 (GRCm39) missense possibly damaging 0.80
R9088:Or1ak2 UTSW 2 36,827,988 (GRCm39) missense probably damaging 1.00
R9223:Or1ak2 UTSW 2 36,827,911 (GRCm39) missense probably damaging 1.00
R9630:Or1ak2 UTSW 2 36,827,653 (GRCm39) missense probably damaging 0.99
U15987:Or1ak2 UTSW 2 36,827,241 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGAGGCATAGCATCCCCTATG -3'
(R):5'- GGCCACAATGCGGACATATG -3'

Sequencing Primer
(F):5'- ATGCTGGATGCCTGTCTCAAATC -3'
(R):5'- CACAATGCGGACATATGAAACAATG -3'
Posted On 2019-11-26