Incidental Mutation 'R3004:Or1ak2'
ID 257384
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R3004 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 36827133-36828080 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36827221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 30 (I30N)
Ref Sequence ENSEMBL: ENSMUSP00000092631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095021]
AlphaFold Q8VFP5
Predicted Effect possibly damaging
Transcript: ENSMUST00000095021
AA Change: I30N

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092631
Gene: ENSMUSG00000070943
AA Change: I30N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.1e-52 PFAM
Pfam:7tm_1 41 290 4.9e-19 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 G A 7: 80,753,103 (GRCm39) W1553* probably null Het
Art2a T C 7: 101,203,972 (GRCm39) I189V probably benign Het
BC049715 A G 6: 136,816,790 (GRCm39) E10G possibly damaging Het
Ccdc158 A G 5: 92,796,929 (GRCm39) L469P probably damaging Het
Cspg4b T C 13: 113,502,688 (GRCm39) F131S probably damaging Het
Ctsm T C 13: 61,687,682 (GRCm39) I59V possibly damaging Het
Daam2 A G 17: 49,767,682 (GRCm39) F970L probably damaging Het
Gm21903 A T 17: 39,353,547 (GRCm39) probably benign Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
H2bc7 G A 13: 23,758,355 (GRCm39) probably benign Het
Hoxd10 T A 2: 74,522,706 (GRCm39) V128D probably benign Het
Ighv5-9 T C 12: 113,625,567 (GRCm39) T59A probably benign Het
Nlrp4c G A 7: 6,068,524 (GRCm39) V142M probably benign Het
Npc1 A G 18: 12,330,311 (GRCm39) F947L probably benign Het
Or56b1b G T 7: 108,164,151 (GRCm39) H284N probably benign Het
Piezo2 G T 18: 63,157,506 (GRCm39) Y223* probably null Het
Rhog A T 7: 101,889,345 (GRCm39) V36E probably damaging Het
Sbno1 G A 5: 124,519,771 (GRCm39) T1168I probably damaging Het
Sin3a T A 9: 57,004,118 (GRCm39) L290* probably null Het
Slco1c1 G T 6: 141,478,380 (GRCm39) A48S probably damaging Het
Slfn9 A T 11: 82,872,590 (GRCm39) S715R possibly damaging Het
Sox17 T C 1: 4,562,840 (GRCm39) E120G 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
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
R7752:Or1ak2 UTSW 2 36,827,630 (GRCm39) missense probably damaging 0.98
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'- GGTCTCAGAGAACACATAGCC -3'
(R):5'- CCTCTGAGTTTGGATGTTTACCAG -3'

Sequencing Primer
(F):5'- GCCACCAACAATTTAATGACATCTTG -3'
(R):5'- TTACCAGCATCCTAGGAACTGTGG -3'
Posted On 2015-01-11