Incidental Mutation 'R4445:Or1ak2'
ID 329820
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 041151-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R4445 (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 G at 36827563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 144 (L144R)
Ref Sequence ENSEMBL: ENSMUSP00000092631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095021]
AlphaFold Q8VFP5
Predicted Effect probably damaging
Transcript: ENSMUST00000095021
AA Change: L144R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092631
Gene: ENSMUSG00000070943
AA Change: L144R

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: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,285,507 (GRCm39) S1160P probably damaging Het
Adgrl1 T C 8: 84,661,489 (GRCm39) L962P probably damaging Het
Arl6 A T 16: 59,444,676 (GRCm39) I51K probably damaging Het
Calcoco1 A G 15: 102,624,175 (GRCm39) probably null Het
Cd59a A G 2: 103,941,163 (GRCm39) Q47R probably benign Het
Cdkl2 G A 5: 92,168,168 (GRCm39) T342I probably benign Het
Cfap45 G A 1: 172,362,794 (GRCm39) V262M probably benign Het
Chd8 A T 14: 52,441,984 (GRCm39) probably null Het
Cntnap2 C T 6: 46,736,785 (GRCm39) T737I probably benign Het
Cplane1 A G 15: 8,281,672 (GRCm39) D2837G unknown Het
Crot T C 5: 9,023,643 (GRCm39) H415R probably damaging Het
Cyp17a1 A G 19: 46,656,462 (GRCm39) F411L probably damaging Het
Cyp4a12a G A 4: 115,183,980 (GRCm39) probably null Het
Cysltr2 G A 14: 73,267,333 (GRCm39) H126Y possibly damaging Het
Ddx56 A T 11: 6,215,770 (GRCm39) probably null Het
Dync2i1 G A 12: 116,171,335 (GRCm39) A967V probably damaging Het
Elmod1 T A 9: 53,841,413 (GRCm39) D93V probably damaging Het
Epb41l2 T C 10: 25,319,701 (GRCm39) L178P possibly damaging Het
Flacc1 A T 1: 58,706,080 (GRCm39) I263K possibly damaging Het
Galnt10 T A 11: 57,674,517 (GRCm39) V502D probably damaging Het
Gm11735 T C 11: 116,629,888 (GRCm39) noncoding transcript Het
H4c12 T C 13: 21,934,513 (GRCm39) T55A possibly damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Igsf9b A G 9: 27,245,548 (GRCm39) T1172A probably benign Het
Ip6k3 A G 17: 27,364,076 (GRCm39) I324T probably benign Het
Klkb1 C T 8: 45,730,092 (GRCm39) S263N probably benign Het
Lrit3 A T 3: 129,582,180 (GRCm39) C602* probably null Het
Lyst T C 13: 13,884,149 (GRCm39) S2986P probably benign Het
Mapkapk5 T C 5: 121,663,291 (GRCm39) T445A probably benign Het
Mms19 A T 19: 41,952,372 (GRCm39) M119K possibly damaging Het
Myo7a T C 7: 97,715,611 (GRCm39) D63G probably damaging Het
Nscme3l A T 19: 5,553,022 (GRCm39) V253D probably damaging Het
Nsun2 G A 13: 69,777,840 (GRCm39) probably null Het
Or13a24 C A 7: 140,154,302 (GRCm39) P79T probably damaging Het
Or2ag1b T A 7: 106,288,353 (GRCm39) Y195F possibly damaging Het
Or51t4 T C 7: 102,598,005 (GRCm39) L101P possibly damaging Het
Pabpc2 T C 18: 39,907,253 (GRCm39) F173L probably damaging Het
Rngtt A G 4: 33,499,035 (GRCm39) I531V probably benign Het
Sacs A G 14: 61,442,135 (GRCm39) M1394V probably benign Het
Setd1b G T 5: 123,286,167 (GRCm39) E404D unknown Het
Slc25a54 G A 3: 109,005,984 (GRCm39) R164H probably benign Het
Slc2a13 A G 15: 91,234,223 (GRCm39) V371A possibly damaging Het
Spag9 C G 11: 93,988,079 (GRCm39) L798V possibly damaging Het
Tbce A T 13: 14,172,980 (GRCm39) S484T possibly damaging Het
Tcf12 C T 9: 71,776,345 (GRCm39) R399Q probably damaging Het
Ttn A G 2: 76,615,177 (GRCm39) V16847A probably benign Het
Ttn A G 2: 76,687,210 (GRCm39) probably benign Het
Vmn1r11 T G 6: 57,114,515 (GRCm39) L23V probably benign Het
Vmn2r59 C T 7: 41,691,874 (GRCm39) C541Y probably damaging Het
Vmn2r82 A C 10: 79,214,874 (GRCm39) T286P possibly damaging Het
Vps13c T G 9: 67,889,777 (GRCm39) probably null Het
Ypel1 A T 16: 16,921,464 (GRCm39) Y73* probably null Het
Zdhhc6 T C 19: 55,291,169 (GRCm39) I349V probably benign 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
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'- TACCACAGTTCCTAGGATGCTG -3'
(R):5'- GACAGTTAATGCTCCTCCCC -3'

Sequencing Primer
(F):5'- GTTCCTAGGATGCTGGTAAACATCC -3'
(R):5'- AGTTAATGCTCCTCCCCAGTAGAG -3'
Posted On 2015-07-21