Incidental Mutation 'R5429:Or2ak5'
ID 427078
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 042995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R5429 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 58610895-58611920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58611350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 175 (N175Y)
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: N175Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073919
Gene: ENSMUSG00000058222
AA Change: N175Y

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: N175Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139574
Gene: ENSMUSG00000108265
AA Change: N175Y

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: N175Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T G 7: 75,252,652 (GRCm39) S261A possibly damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Auts2 G A 5: 131,501,173 (GRCm39) T289M probably damaging Het
Btaf1 G A 19: 36,972,257 (GRCm39) V1331I possibly damaging Het
Ciz1 T A 2: 32,266,055 (GRCm39) I609K possibly damaging Het
Clca3b C T 3: 144,552,220 (GRCm39) V154I probably damaging Het
Csde1 A G 3: 102,960,157 (GRCm39) T564A possibly damaging Het
Csrnp2 A G 15: 100,379,935 (GRCm39) V452A probably benign Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Dock6 T C 9: 21,744,177 (GRCm39) D677G probably damaging Het
Filip1l A T 16: 57,390,618 (GRCm39) E402V probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ghr G A 15: 3,418,157 (GRCm39) Q37* probably null Het
Gm10770 C T 2: 150,021,343 (GRCm39) R58H probably benign Het
Gm12789 T C 4: 101,847,158 (GRCm39) Y148H possibly damaging Het
Herc4 T A 10: 63,110,792 (GRCm39) N234K probably benign Het
Itih3 A G 14: 30,645,478 (GRCm39) V10A probably benign Het
Kat14 T A 2: 144,235,243 (GRCm39) D234E probably benign Het
Kif13a A G 13: 46,926,245 (GRCm39) probably null Het
Kif2b A G 11: 91,468,055 (GRCm39) V76A probably benign Het
Mboat1 A G 13: 30,403,650 (GRCm39) T150A probably benign Het
Mfsd1 T A 3: 67,507,293 (GRCm39) L398H probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nfx1 T C 4: 41,004,343 (GRCm39) C705R probably damaging Het
Or13a27 A G 7: 139,925,186 (GRCm39) F239L possibly damaging Het
Pcdh10 T C 3: 45,338,635 (GRCm39) S931P probably benign Het
Pdpk1 T C 17: 24,310,534 (GRCm39) E205G probably benign Het
Ppp2r2a A T 14: 67,261,205 (GRCm39) F172I probably damaging Het
Ppp2r5e T A 12: 75,500,537 (GRCm39) D452V probably damaging Het
Rims2 A T 15: 39,208,751 (GRCm39) T185S probably damaging Het
Rpusd4 T C 9: 35,183,898 (GRCm39) V209A probably benign Het
Safb T C 17: 56,895,822 (GRCm39) V20A probably benign Het
Scaf8 C A 17: 3,247,385 (GRCm39) P903T probably benign Het
Slc30a7 A G 3: 115,800,574 (GRCm39) S31P possibly damaging Het
Slc9b1 T C 3: 135,079,024 (GRCm39) probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tbc1d32 T C 10: 55,904,089 (GRCm39) D1226G probably damaging Het
Tlnrd1 G T 7: 83,531,522 (GRCm39) T303N probably damaging Het
Tmc1 G T 19: 20,766,986 (GRCm39) N738K possibly damaging Het
Tmem41a A G 16: 21,753,606 (GRCm39) I255T probably benign Het
Trim7 G A 11: 48,740,782 (GRCm39) C293Y probably damaging Het
Trpc6 C T 9: 8,634,075 (GRCm39) Q385* probably null Het
Ttc39b A G 4: 83,162,190 (GRCm39) I330T possibly damaging Het
Vil1 C T 1: 74,471,490 (GRCm39) T757I probably benign Het
Zfp462 T C 4: 55,060,077 (GRCm39) V1201A probably damaging Het
Zfp473 T A 7: 44,382,272 (GRCm39) E686V possibly damaging Het
Zfp998 G A 13: 66,579,887 (GRCm39) P199S probably benign 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
R5572:Or2ak5 UTSW 11 58,611,055 (GRCm39) missense probably benign 0.00
R5653:Or2ak5 UTSW 11 58,611,077 (GRCm39) missense probably damaging 1.00
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'- GACACAGCTCTACTCTGTCC -3'
(R):5'- GACCTTGGGTGGATCTGAAG -3'

Sequencing Primer
(F):5'- CCTTCCCTGAACCCATCTGG -3'
(R):5'- TGGATCTGAAGCCCTCCTG -3'
Posted On 2016-09-01