Incidental Mutation 'R0411:Or10ak8'
ID 36647
Institutional Source Beutler Lab
Gene Symbol Or10ak8
Ensembl Gene ENSMUSG00000096705
Gene Name olfactory receptor family 10 subfamily AK member 8
Synonyms Olfr1329, MOR259-2, GA_x6K02T2QD9B-18619941-18620882
MMRRC Submission 038613-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R0411 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 118773721-118774662 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118773823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 280 (N280K)
Ref Sequence ENSEMBL: ENSMUSP00000071870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071979]
AlphaFold L7MTV4
Predicted Effect possibly damaging
Transcript: ENSMUST00000071979
AA Change: N280K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071870
Gene: ENSMUSG00000096705
AA Change: N280K

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 4.3e-55 PFAM
Pfam:7TM_GPCR_Srsx 36 306 1.5e-6 PFAM
Pfam:7tm_1 42 291 5.7e-25 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (66/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,053,834 (GRCm39) probably benign Het
6030469F06Rik A T 12: 31,234,730 (GRCm39) noncoding transcript Het
Acad11 T C 9: 103,993,495 (GRCm39) F541L probably damaging Het
Acin1 G T 14: 54,884,231 (GRCm39) R92S probably damaging Het
Appl1 A G 14: 26,662,213 (GRCm39) S490P probably benign Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
Arih1 A T 9: 59,393,266 (GRCm39) I122N possibly damaging Het
Bmi1 T C 2: 18,687,983 (GRCm39) probably benign Het
Bmpr1a G A 14: 34,137,834 (GRCm39) T391I possibly damaging Het
Cacna1s A G 1: 136,041,041 (GRCm39) K1256E probably damaging Het
Cacng3 C T 7: 122,367,795 (GRCm39) P225L probably damaging Het
Cd101 A T 3: 100,925,843 (GRCm39) probably null Het
Cd55 A G 1: 130,390,294 (GRCm39) probably benign Het
Cenpe T C 3: 134,928,016 (GRCm39) I258T probably damaging Het
Cfap251 C T 5: 123,428,117 (GRCm39) T538M probably damaging Het
Cma2 A G 14: 56,211,135 (GRCm39) probably benign Het
Ddost T A 4: 138,036,964 (GRCm39) S176T probably benign Het
Ddx19b A T 8: 111,750,596 (GRCm39) probably null Het
Dmxl2 A G 9: 54,286,223 (GRCm39) I2681T probably damaging Het
Ern1 C T 11: 106,289,412 (GRCm39) E964K probably benign Het
Exoc1l G T 5: 76,648,334 (GRCm39) V47L possibly damaging Het
Galntl5 C T 5: 25,425,172 (GRCm39) R430C probably benign Het
Gga3 A G 11: 115,478,259 (GRCm39) L511P probably damaging Het
Gria2 C T 3: 80,618,165 (GRCm39) probably benign Het
Hmbs A T 9: 44,252,949 (GRCm39) L28* probably null Het
Iffo2 A G 4: 139,330,532 (GRCm39) E220G probably damaging Het
Ifi30 A G 8: 71,217,562 (GRCm39) probably benign Het
Irf2 T A 8: 47,299,096 (GRCm39) C297S probably benign Het
Izumo4 T C 10: 80,538,918 (GRCm39) Y94H probably damaging Het
Klhdc9 A G 1: 171,187,353 (GRCm39) V215A probably benign Het
Kmt2a T C 9: 44,731,261 (GRCm39) probably benign Het
Kmt2c A T 5: 25,580,955 (GRCm39) C513S probably damaging Het
Lyg1 A T 1: 37,988,977 (GRCm39) M81K possibly damaging Het
Maip1 T G 1: 57,454,852 (GRCm39) W279G probably damaging Het
Myo7a T C 7: 97,721,144 (GRCm39) T1263A probably benign Het
Naa15 T A 3: 51,373,060 (GRCm39) I701N possibly damaging Het
Ncoa3 A G 2: 165,910,463 (GRCm39) N1292S probably benign Het
Necab2 T A 8: 120,180,979 (GRCm39) probably benign Het
Nfatc1 T A 18: 80,741,257 (GRCm39) I234F possibly damaging Het
Olfm1 G A 2: 28,098,223 (GRCm39) R95K possibly damaging Het
Or10ag56 A G 2: 87,139,402 (GRCm39) T90A probably benign Het
Otoa T C 7: 120,755,750 (GRCm39) probably null Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pard6g A G 18: 80,160,337 (GRCm39) D150G probably damaging Het
Pax5 A G 4: 44,609,783 (GRCm39) L215S probably damaging Het
Pja2 A T 17: 64,594,516 (GRCm39) probably benign Het
Plk4 T A 3: 40,765,654 (GRCm39) probably benign Het
Polr1a A T 6: 71,955,405 (GRCm39) H1687L possibly damaging Het
Ptcd2 G A 13: 99,479,899 (GRCm39) L41F probably damaging Het
Ropn1 T A 16: 34,490,334 (GRCm39) S62T probably benign Het
Setd1a T C 7: 127,395,223 (GRCm39) probably benign Het
Setdb1 T C 3: 95,234,997 (GRCm39) D902G probably damaging Het
Sik3 T A 9: 46,120,068 (GRCm39) L719Q probably damaging Het
Slc36a1 G T 11: 55,123,333 (GRCm39) V433F probably benign Het
Slc6a3 T C 13: 73,705,169 (GRCm39) V220A possibly damaging Het
Slc6a5 A T 7: 49,561,539 (GRCm39) R24W probably damaging Het
Smox G T 2: 131,362,564 (GRCm39) R281L probably benign Het
Sulf2 G T 2: 165,935,436 (GRCm39) H226N probably damaging Het
Syne2 C T 12: 76,106,358 (GRCm39) probably null Het
Tenm3 C T 8: 48,740,826 (GRCm39) S1210N possibly damaging Het
Tns1 A T 1: 73,964,920 (GRCm39) V1237E probably damaging Het
Trf C T 9: 103,094,700 (GRCm39) V92M probably damaging Het
Ttn A G 2: 76,539,717 (GRCm39) V34423A possibly damaging Het
Vmn2r118 A G 17: 55,918,021 (GRCm39) probably benign Het
Vmn2r19 A G 6: 123,286,703 (GRCm39) Y112C probably damaging Het
Zfp326 G T 5: 106,026,641 (GRCm39) A15S possibly damaging Het
Other mutations in Or10ak8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Or10ak8 APN 4 118,774,091 (GRCm39) missense possibly damaging 0.67
IGL02065:Or10ak8 APN 4 118,773,968 (GRCm39) missense probably benign 0.00
IGL02085:Or10ak8 APN 4 118,773,947 (GRCm39) missense probably damaging 1.00
IGL02092:Or10ak8 APN 4 118,774,187 (GRCm39) missense possibly damaging 0.72
IGL02557:Or10ak8 APN 4 118,774,389 (GRCm39) missense probably benign 0.00
R0129:Or10ak8 UTSW 4 118,774,667 (GRCm39) splice site probably null
R5001:Or10ak8 UTSW 4 118,774,440 (GRCm39) missense probably damaging 0.97
R5313:Or10ak8 UTSW 4 118,773,995 (GRCm39) missense probably benign 0.00
R5733:Or10ak8 UTSW 4 118,774,035 (GRCm39) missense probably benign 0.00
R6153:Or10ak8 UTSW 4 118,773,944 (GRCm39) missense probably damaging 1.00
R6274:Or10ak8 UTSW 4 118,774,427 (GRCm39) missense probably benign 0.01
R7671:Or10ak8 UTSW 4 118,774,183 (GRCm39) missense probably benign 0.02
R8358:Or10ak8 UTSW 4 118,773,723 (GRCm39) makesense probably null
R8696:Or10ak8 UTSW 4 118,774,635 (GRCm39) missense probably benign 0.23
R8881:Or10ak8 UTSW 4 118,774,571 (GRCm39) missense probably benign 0.01
R9599:Or10ak8 UTSW 4 118,773,851 (GRCm39) missense probably benign 0.00
R9655:Or10ak8 UTSW 4 118,773,804 (GRCm39) missense probably damaging 1.00
Z1088:Or10ak8 UTSW 4 118,773,785 (GRCm39) missense probably damaging 1.00
Z1176:Or10ak8 UTSW 4 118,774,332 (GRCm39) missense probably damaging 0.96
Z1176:Or10ak8 UTSW 4 118,774,224 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- GCACTCTCAGTCTCATGAACATCCC -3'
(R):5'- GTAGCCTGGCTTGCATGGATACTC -3'

Sequencing Primer
(F):5'- CCCAGGTCAAGACGAATGTTG -3'
(R):5'- GCTTGCATGGATACTCATGTC -3'
Posted On 2013-05-09