Incidental Mutation 'R5447:Or1ad8'
ID 429141
Institutional Source Beutler Lab
Gene Symbol Or1ad8
Ensembl Gene ENSMUSG00000060918
Gene Name olfactory receptor family 1 subfamily AD member 8
Synonyms Olfr51, ID7, GA_x6K02T2QP88-4431129-4430206, MOR129-3
MMRRC Submission 043012-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5447 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50897801-50898724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50898170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 124 (V124M)
Ref Sequence ENSEMBL: ENSMUSP00000151005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076514] [ENSMUST00000213415]
AlphaFold Q8VGG9
Predicted Effect possibly damaging
Transcript: ENSMUST00000076514
AA Change: V124M

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075832
Gene: ENSMUSG00000060918
AA Change: V124M

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.4e-50 PFAM
Pfam:7tm_1 41 289 8.7e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213415
AA Change: V124M

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (71/73)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,891,061 (GRCm39) I479V probably damaging Het
Adam30 A G 3: 98,068,659 (GRCm39) D164G probably benign Het
Adgrl3 T A 5: 81,613,188 (GRCm39) probably benign Het
Adrb1 T C 19: 56,711,519 (GRCm39) I239T probably benign Het
Albfm1 C A 5: 90,732,169 (GRCm39) A458E probably damaging Het
B4galnt3 T C 6: 120,192,018 (GRCm39) T572A probably benign Het
Baz2b T C 2: 59,744,332 (GRCm39) E1391G probably damaging Het
BC016579 A G 16: 45,469,252 (GRCm39) V72A probably benign Het
Btnl10 A T 11: 58,813,144 (GRCm39) I258F probably benign Het
Cdh5 A T 8: 104,855,994 (GRCm39) D309V probably damaging Het
Cdhr2 A G 13: 54,881,063 (GRCm39) D1042G probably damaging Het
Clk2 G T 3: 89,074,498 (GRCm39) V53F possibly damaging Het
Cyfip2 T C 11: 46,182,413 (GRCm39) D15G possibly damaging Het
Dip2b C T 15: 100,109,867 (GRCm39) R1451C probably damaging Het
Dmbt1 A G 7: 130,721,240 (GRCm39) Y1836C probably damaging Het
Dysf T C 6: 84,172,245 (GRCm39) F1905L probably damaging Het
E130114P18Rik A G 4: 97,578,955 (GRCm39) S7P unknown Het
Fam110a T C 2: 151,812,629 (GRCm39) E47G probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Helb T A 10: 119,938,806 (GRCm39) D556V possibly damaging Het
Hoxd4 A G 2: 74,557,687 (GRCm39) E22G probably damaging Het
Hsd17b8 A T 17: 34,245,886 (GRCm39) V202D probably damaging Het
Il1rl2 T G 1: 40,368,316 (GRCm39) I162R probably damaging Het
Lhfpl5 A G 17: 28,795,071 (GRCm39) T33A probably damaging Het
Mapk8ip3 G A 17: 25,118,163 (GRCm39) A1283V probably benign Het
Mettl13 A G 1: 162,363,449 (GRCm39) V227A probably benign Het
Mmgt2 T A 11: 62,555,824 (GRCm39) C57* probably null Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Mylk2 T C 2: 152,754,430 (GRCm39) S175P probably damaging Het
Neu4 C T 1: 93,950,140 (GRCm39) T33M probably damaging Het
Nfs1 C T 2: 155,984,056 (GRCm39) R107H probably benign Het
Nfxl1 C T 5: 72,686,512 (GRCm39) R563Q probably benign Het
Nid1 A G 13: 13,612,495 (GRCm39) D70G probably benign Het
Nup160 C A 2: 90,555,959 (GRCm39) Q1220K possibly damaging Het
Or1e22 A G 11: 73,377,002 (GRCm39) V216A probably benign Het
Or52s6 A C 7: 103,092,147 (GRCm39) M61R probably damaging Het
Or5k8 A T 16: 58,644,846 (GRCm39) C75* probably null Het
Pdgfrb T A 18: 61,201,180 (GRCm39) V422E probably damaging Het
Pear1 G A 3: 87,666,449 (GRCm39) R85C probably damaging Het
Pkhd1 T A 1: 20,309,609 (GRCm39) M2780L probably benign Het
Ppp4r4 T C 12: 103,550,410 (GRCm39) V62A possibly damaging Het
Prol1 C T 5: 88,476,125 (GRCm39) P172S unknown Het
Proz A G 8: 13,122,578 (GRCm39) I231V probably benign Het
Ptch1 T G 13: 63,675,059 (GRCm39) M718L probably benign Het
Ptprs A G 17: 56,736,128 (GRCm39) C102R possibly damaging Het
Robo2 A T 16: 73,770,654 (GRCm39) Y490* probably null Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Skint6 T A 4: 112,963,106 (GRCm39) S442C probably benign Het
Snw1 T C 12: 87,502,485 (GRCm39) E303G probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Stk10 C T 11: 32,554,166 (GRCm39) Q618* probably null Het
Tmc3 A T 7: 83,271,569 (GRCm39) E907V possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttn T A 2: 76,729,451 (GRCm39) probably benign Het
Vps39 T C 2: 120,183,413 (GRCm39) D19G probably benign Het
Zan T C 5: 137,470,453 (GRCm39) S229G probably damaging Het
Zfp141 A T 7: 42,124,983 (GRCm39) C496* probably null Het
Zgrf1 T C 3: 127,356,768 (GRCm39) S665P possibly damaging Het
Other mutations in Or1ad8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01771:Or1ad8 APN 11 50,898,593 (GRCm39) missense probably benign 0.15
IGL02729:Or1ad8 APN 11 50,897,892 (GRCm39) missense probably damaging 1.00
R0367:Or1ad8 UTSW 11 50,897,904 (GRCm39) missense probably damaging 1.00
R1675:Or1ad8 UTSW 11 50,898,464 (GRCm39) missense probably benign 0.01
R1716:Or1ad8 UTSW 11 50,898,679 (GRCm39) missense probably damaging 1.00
R1943:Or1ad8 UTSW 11 50,898,502 (GRCm39) missense probably benign 0.42
R3027:Or1ad8 UTSW 11 50,897,879 (GRCm39) missense possibly damaging 0.77
R4569:Or1ad8 UTSW 11 50,898,381 (GRCm39) missense possibly damaging 0.94
R5190:Or1ad8 UTSW 11 50,898,381 (GRCm39) missense probably damaging 0.98
R5560:Or1ad8 UTSW 11 50,898,350 (GRCm39) missense possibly damaging 0.61
R6396:Or1ad8 UTSW 11 50,898,312 (GRCm39) missense possibly damaging 0.46
R6943:Or1ad8 UTSW 11 50,898,153 (GRCm39) missense probably damaging 1.00
R7199:Or1ad8 UTSW 11 50,898,223 (GRCm39) nonsense probably null
R7991:Or1ad8 UTSW 11 50,898,071 (GRCm39) missense possibly damaging 0.48
R8118:Or1ad8 UTSW 11 50,898,327 (GRCm39) missense probably damaging 1.00
R8178:Or1ad8 UTSW 11 50,898,437 (GRCm39) missense probably damaging 1.00
R8496:Or1ad8 UTSW 11 50,897,877 (GRCm39) missense probably benign
R9006:Or1ad8 UTSW 11 50,897,975 (GRCm39) missense probably damaging 0.98
R9246:Or1ad8 UTSW 11 50,897,891 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATTATCCTGGCCATCAGCTGTG -3'
(R):5'- CAGAAGAAGTGGTGCACTGC -3'

Sequencing Primer
(F):5'- TGGCCAACCTCTCCAGTG -3'
(R):5'- GCACTGCATTGTGGGAAC -3'
Posted On 2016-09-06