Incidental Mutation 'R5653:Or2ak5'
ID 442119
Institutional Source Beutler Lab
Gene Symbol Or2ak5
Ensembl Gene ENSMUSG00000108265
Gene Name olfactory receptor family 2 subfamily AK member 5
Synonyms Olfr318, MOR285-1, GA_x6K02T2NKPP-692816-693736
MMRRC Submission 043299-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R5653 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 58610895-58611920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58611077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 266 (H266Y)
Ref Sequence ENSEMBL: ENSMUSP00000149053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000189911] [ENSMUST00000214728]
AlphaFold Q5NCD7
Predicted Effect probably damaging
Transcript: ENSMUST00000074309
AA Change: H266Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000073919
Gene: ENSMUSG00000058222
AA Change: H266Y

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 5.2e-47 PFAM
Pfam:7tm_1 41 290 6.6e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189911
AA Change: H266Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139574
Gene: ENSMUSG00000108265
AA Change: H266Y

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 220 6.2e-7 PFAM
Pfam:7tm_1 41 290 7.3e-30 PFAM
Pfam:7tm_4 139 283 3.2e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213944
Predicted Effect probably damaging
Transcript: ENSMUST00000214728
AA Change: H266Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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
Ablim2 T C 5: 36,040,756 (GRCm39) L663P probably damaging Het
Atp10d A T 5: 72,421,410 (GRCm39) Q682L probably benign Het
Atp8b1 A G 18: 64,678,268 (GRCm39) V876A probably damaging Het
Bard1 A T 1: 71,070,588 (GRCm39) V632E probably benign Het
Baz1b A T 5: 135,237,951 (GRCm39) E209V probably benign Het
Bmp1 T A 14: 70,727,534 (GRCm39) Y683F probably benign Het
Cacnb1 A T 11: 97,900,105 (GRCm39) probably null Het
Capza2 G A 6: 17,654,112 (GRCm39) A55T probably damaging Het
Cc2d2a A G 5: 43,879,804 (GRCm39) N1127S possibly damaging Het
Ccdc13 A G 9: 121,627,853 (GRCm39) *255R probably null Het
Ddias G T 7: 92,507,937 (GRCm39) N659K probably damaging Het
Ddr1 C T 17: 35,997,400 (GRCm39) A531T probably benign Het
Dnah9 T C 11: 65,740,806 (GRCm39) T4127A probably damaging Het
Dnajc10 T A 2: 80,179,712 (GRCm39) Y749N probably damaging Het
Dnm1l A G 16: 16,137,353 (GRCm39) L422P probably damaging Het
Edil3 A T 13: 89,279,931 (GRCm39) N203I probably damaging Het
Egfr C T 11: 16,861,617 (GRCm39) A1132V probably benign Het
Entpd7 C T 19: 43,679,596 (GRCm39) R50* probably null Het
Fat2 T C 11: 55,201,142 (GRCm39) D644G probably damaging Het
Fhip1a A T 3: 85,629,808 (GRCm39) L40Q probably damaging Het
Galnt11 T A 5: 25,453,856 (GRCm39) D27E probably damaging Het
Gm10801 T A 2: 98,494,396 (GRCm39) F158I probably damaging Het
Gm37240 A G 3: 84,405,102 (GRCm39) F234L probably damaging Het
Gtf2ird1 A T 5: 134,439,821 (GRCm39) F136L probably damaging Het
Hspa1l T C 17: 35,196,396 (GRCm39) V145A probably damaging Het
Ice2 A G 9: 69,335,662 (GRCm39) T882A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kat6b A G 14: 21,719,440 (GRCm39) N1264S probably benign Het
Kcnq4 C A 4: 120,559,608 (GRCm39) V531L probably benign Het
Kif9 A T 9: 110,353,999 (GRCm39) K790N probably damaging Het
Lipe T A 7: 25,097,833 (GRCm39) I37L probably benign Het
Lrrc43 A G 5: 123,637,643 (GRCm39) D270G probably damaging Het
Mon2 A G 10: 122,861,999 (GRCm39) Y782H probably damaging Het
Mrpl52 T C 14: 54,664,686 (GRCm39) S49P probably damaging Het
Or2h15 T A 17: 38,442,075 (GRCm39) T3S possibly damaging Het
Or5k14 A G 16: 58,692,847 (GRCm39) L222P probably damaging Het
Or5p56 A T 7: 107,589,592 (GRCm39) T7S probably benign Het
Pcbp2 C T 15: 102,395,524 (GRCm39) A141V probably damaging Het
Pcsk9 T A 4: 106,316,113 (GRCm39) Y110F probably damaging Het
Plxna4 A G 6: 32,494,551 (GRCm39) S22P possibly damaging Het
Polq T A 16: 36,860,896 (GRCm39) L506Q probably damaging Het
Prkn C T 17: 11,456,536 (GRCm39) A119V probably damaging Het
Prx C T 7: 27,217,029 (GRCm39) P510L probably damaging Het
Ptpre T C 7: 135,255,672 (GRCm39) F54L probably damaging Het
Rspry1 T G 8: 95,363,239 (GRCm39) probably null Het
Tnfrsf11b A T 15: 54,123,262 (GRCm39) L113Q probably damaging Het
Tnk1 C T 11: 69,744,411 (GRCm39) G411S probably damaging Het
Tor3a A G 1: 156,484,080 (GRCm39) L290S probably damaging Het
Tril T C 6: 53,794,970 (GRCm39) T751A probably benign Het
Tubgcp6 C T 15: 88,992,815 (GRCm39) V547I possibly damaging Het
Txnrd3 T C 6: 89,631,067 (GRCm39) L121P probably benign Het
Vmn1r210 T A 13: 23,011,378 (GRCm39) R303* probably null Het
Vmn2r38 T C 7: 9,100,764 (GRCm39) M1V probably null Het
Other mutations in Or2ak5
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4548:Or2ak5 UTSW 11 58,611,197 (GRCm39) missense probably benign
R0626:Or2ak5 UTSW 11 58,611,347 (GRCm39) missense probably benign 0.22
R1560:Or2ak5 UTSW 11 58,611,513 (GRCm39) nonsense probably null
R1822:Or2ak5 UTSW 11 58,611,133 (GRCm39) missense probably damaging 1.00
R2334:Or2ak5 UTSW 11 58,611,288 (GRCm39) nonsense probably null
R3429:Or2ak5 UTSW 11 58,611,097 (GRCm39) missense probably damaging 1.00
R4880:Or2ak5 UTSW 11 58,611,107 (GRCm39) missense probably benign 0.31
R5024:Or2ak5 UTSW 11 58,611,776 (GRCm39) missense probably benign 0.00
R5429:Or2ak5 UTSW 11 58,611,350 (GRCm39) missense probably damaging 1.00
R5572:Or2ak5 UTSW 11 58,611,055 (GRCm39) missense probably benign 0.00
R5655:Or2ak5 UTSW 11 58,611,077 (GRCm39) missense probably damaging 1.00
R6003:Or2ak5 UTSW 11 58,611,196 (GRCm39) missense probably benign 0.20
R6130:Or2ak5 UTSW 11 58,611,133 (GRCm39) missense probably damaging 1.00
R7071:Or2ak5 UTSW 11 58,610,984 (GRCm39) missense possibly damaging 0.59
R8850:Or2ak5 UTSW 11 58,611,572 (GRCm39) missense probably benign 0.02
Z1186:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Z1187:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Z1188:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Z1189:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Z1190:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Z1191:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Z1192:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCCTGAAACTGTCCAAGGCAG -3'
(R):5'- CTCGTGAGTGGACTTGTCATTC -3'

Sequencing Primer
(F):5'- GAAACTGTCCAAGGCAGCGTTC -3'
(R):5'- AGTGGACTTGTCATTCTGCTGC -3'
Posted On 2016-11-09