Incidental Mutation 'R6396:Or1ad8'
ID 516010
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 044544-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R6396 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 50897801-50898724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50898312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 171 (H171R)
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: H171R

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075832
Gene: ENSMUSG00000060918
AA Change: H171R

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: H171R

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 97.9%
Validation Efficiency 100% (36/36)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 A T 7: 16,296,224 (GRCm39) I947K probably damaging Het
B3galnt2 A T 13: 14,170,333 (GRCm39) I447F probably damaging Het
Cacna2d3 C A 14: 29,118,522 (GRCm39) V134L probably benign Het
Clcn4 C T 7: 7,297,024 (GRCm39) G145S probably damaging Het
Cndp1 A T 18: 84,650,135 (GRCm39) M186K probably benign Het
Cntn6 A G 6: 104,627,461 (GRCm39) Y98C probably damaging Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dyrk1a C A 16: 94,472,299 (GRCm39) Q230K probably damaging Het
Ech1 C T 7: 28,529,763 (GRCm39) probably null Het
Fam81b T A 13: 76,399,968 (GRCm39) R97W probably damaging Het
Heatr1 A G 13: 12,420,978 (GRCm39) E423G possibly damaging Het
Hydin A T 8: 111,233,521 (GRCm39) K1786N probably damaging Het
Igf2r T C 17: 12,932,977 (GRCm39) I848M probably benign Het
Igkv10-96 G A 6: 68,608,969 (GRCm39) Q109* probably null Het
Mup6 T C 4: 60,004,837 (GRCm39) I76T possibly damaging Het
Nmt2 A G 2: 3,315,738 (GRCm39) R243G probably benign Het
Nsd1 G A 13: 55,386,602 (GRCm39) G119D probably damaging Het
Or4c113 A G 2: 88,885,641 (GRCm39) I43T probably benign Het
Or4c120 T G 2: 89,001,034 (GRCm39) D174A probably damaging Het
Or51ab3 C T 7: 103,201,888 (GRCm39) Q299* probably null Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pank3 T C 11: 35,669,516 (GRCm39) V250A probably damaging Het
Pcdh10 A G 3: 45,334,495 (GRCm39) I270V possibly damaging Het
Pnp2 T A 14: 51,200,616 (GRCm39) V94E probably damaging Het
Prdm10 T C 9: 31,229,842 (GRCm39) V86A possibly damaging Het
Resf1 A G 6: 149,229,417 (GRCm39) D821G probably damaging Het
Riox1 G A 12: 83,998,087 (GRCm39) D208N possibly damaging Het
Rrp15 A G 1: 186,469,783 (GRCm39) probably null Het
Skor1 G T 9: 63,052,232 (GRCm39) P579Q probably damaging Het
Slc44a4 T A 17: 35,147,860 (GRCm39) Y481* probably null Het
Smg7 A T 1: 152,724,351 (GRCm39) V610E probably benign Het
Tlx1 A G 19: 45,144,491 (GRCm39) Q71R probably damaging Het
Vmn2r27 A T 6: 124,201,125 (GRCm39) Y277* probably null Het
Zswim2 T A 2: 83,754,062 (GRCm39) R199S probably 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
R5447:Or1ad8 UTSW 11 50,898,170 (GRCm39) missense possibly damaging 0.66
R5560:Or1ad8 UTSW 11 50,898,350 (GRCm39) missense possibly damaging 0.61
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'- ATTCAGCAATATGGATGGCTTCC -3'
(R):5'- GTCGACAGGGCTTTCCTTATTC -3'

Sequencing Primer
(F):5'- CAATATGGATGGCTTCCTCCTGAG -3'
(R):5'- CCATGGGCAGATTTTAACTTCAG -3'
Posted On 2018-05-04