Incidental Mutation 'R6003:Or2ak5'
ID 478471
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 043252-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R6003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 58610895-58611920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58611196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 226 (I226N)
Ref Sequence ENSEMBL: ENSMUSP00000149053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000189911] [ENSMUST00000214728]
AlphaFold Q5NCD7
Predicted Effect probably benign
Transcript: ENSMUST00000189911
AA Change: I226N

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139574
Gene: ENSMUSG00000108265
AA Change: I226N

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 benign
Transcript: ENSMUST00000214728
AA Change: I226N

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,312 (GRCm39) E157G probably benign Het
Abcb11 T C 2: 69,073,811 (GRCm39) K1238R probably benign Het
Ankar T A 1: 72,738,046 (GRCm39) E45D probably damaging Het
Antxrl G T 14: 33,797,592 (GRCm39) K522N possibly damaging Het
Ap1m1 A G 8: 73,003,011 (GRCm39) Y93C probably damaging Het
As3mt C T 19: 46,696,567 (GRCm39) T35M possibly damaging Het
Aspg T C 12: 112,079,476 (GRCm39) S85P probably damaging Het
Cachd1 T C 4: 100,809,216 (GRCm39) S234P possibly damaging Het
Ccdc3 T C 2: 5,146,218 (GRCm39) probably null Het
Cnpy1 T C 5: 28,450,759 (GRCm39) T16A probably benign Het
Cope T C 8: 70,757,285 (GRCm39) L43P probably benign Het
E2f8 T C 7: 48,520,525 (GRCm39) M599V probably benign Het
Eif3a A T 19: 60,755,319 (GRCm39) D954E unknown Het
Gfpt1 T A 6: 87,065,230 (GRCm39) probably null Het
Ggps1 T G 13: 14,228,587 (GRCm39) S145R probably benign Het
Gon4l A G 3: 88,803,400 (GRCm39) D1337G probably damaging Het
Gtf2a1l G T 17: 89,001,531 (GRCm39) G82V probably damaging Het
Gucy1b1 C A 3: 81,965,584 (GRCm39) L87F probably damaging Het
Hoxc9 T C 15: 102,890,311 (GRCm39) V76A probably benign Het
Ints2 T C 11: 86,129,294 (GRCm39) E460G probably damaging Het
Kdm4b C T 17: 56,703,916 (GRCm39) R756W probably damaging Het
Lax1 T A 1: 133,611,834 (GRCm39) I34F probably benign Het
Marveld3 A T 8: 110,680,960 (GRCm39) C312S probably damaging Het
Ncoa2 T C 1: 13,237,254 (GRCm39) D824G possibly damaging Het
Nrxn2 C A 19: 6,548,358 (GRCm39) A17D possibly damaging Het
Nup133 A T 8: 124,665,031 (GRCm39) I220N probably damaging Het
Nup205 T C 6: 35,189,751 (GRCm39) V984A probably benign Het
Nup54 A T 5: 92,570,853 (GRCm39) D318E probably damaging Het
Obp2a A T 2: 25,591,151 (GRCm39) K94N probably damaging Het
Or5b3 T C 19: 13,388,403 (GRCm39) S157P probably benign Het
Pappa2 T C 1: 158,763,820 (GRCm39) I564V probably benign Het
Parpbp A G 10: 87,969,020 (GRCm39) V142A possibly damaging Het
Rdh16f2 A T 10: 127,712,201 (GRCm39) R219S probably benign Het
Rfx6 C T 10: 51,584,683 (GRCm39) R228C probably damaging Het
Rpap2 A G 5: 107,749,767 (GRCm39) probably null Het
Rskr T G 11: 78,183,846 (GRCm39) probably null Het
Slc15a2 T C 16: 36,574,910 (GRCm39) I531V probably benign Het
Srebf1 T C 11: 60,097,930 (GRCm39) E58G possibly damaging Het
Tmem214 C A 5: 31,028,068 (GRCm39) T96K possibly damaging Het
Usp19 T C 9: 108,373,579 (GRCm39) Y691H probably damaging Het
Vmn1r86 C T 7: 12,836,125 (GRCm39) W200* probably null Het
Vmn2r8 A T 5: 108,945,248 (GRCm39) S786R probably damaging Het
Vps52 T A 17: 34,175,068 (GRCm39) M1K probably null Het
Zzef1 T A 11: 72,714,891 (GRCm39) 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
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
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'- TTCAGAACAGGGGTGACGATTG -3'
(R):5'- CAGCTCCATCAATGCATTCATG -3'

Sequencing Primer
(F):5'- TTGAGTAGAGCACAGCCAC -3'
(R):5'- ACAGTGTATGTGTTTCAACTTCC -3'
Posted On 2017-06-26