Incidental Mutation 'R5190:Or1ad8'
ID 398063
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5190 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 50897801-50898724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 50898381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 194 (I194S)
Ref Sequence ENSEMBL: ENSMUSP00000151005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076514] [ENSMUST00000213415]
AlphaFold Q8VGG9
Predicted Effect probably damaging
Transcript: ENSMUST00000076514
AA Change: I194S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075832
Gene: ENSMUSG00000060918
AA Change: I194S

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.4e-50 PFAM
Pfam:7tm_1 41 289 8.7e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213415
AA Change: I194S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abca7 T C 10: 79,835,427 (GRCm39) probably null Het
Abca8a C T 11: 109,980,735 (GRCm39) probably null Het
Ablim3 A G 18: 61,952,982 (GRCm39) Y361H probably benign Het
Acan C T 7: 78,748,289 (GRCm39) T1020I probably benign Het
Baat A G 4: 49,499,652 (GRCm39) L218P probably damaging Het
Bcl11b C A 12: 107,955,975 (GRCm39) C58F probably damaging Het
Cand2 G T 6: 115,766,474 (GRCm39) A360S probably damaging Het
Cdh2 A G 18: 16,783,372 (GRCm39) V62A possibly damaging Het
Cep44 C T 8: 56,985,831 (GRCm39) V354I probably benign Het
Col3a1 G A 1: 45,368,244 (GRCm39) R309Q unknown Het
Col3a1 G A 1: 45,383,967 (GRCm39) probably benign Het
Coq5 A G 5: 115,433,839 (GRCm39) probably null Het
Crtac1 A G 19: 42,322,347 (GRCm39) I131T possibly damaging Het
Decr1 C T 4: 15,924,270 (GRCm39) V217M probably damaging Het
Dnajc13 A G 9: 104,051,724 (GRCm39) V1706A probably benign Het
Dop1a A G 9: 86,369,357 (GRCm39) I63M probably damaging Het
F830045P16Rik T C 2: 129,314,635 (GRCm39) D214G probably benign Het
Fam216a T A 5: 122,505,584 (GRCm39) probably null Het
Fdxacb1 A C 9: 50,683,387 (GRCm39) H248P possibly damaging Het
Gnai1 A T 5: 18,496,596 (GRCm39) V109E probably benign Het
Helz2 A T 2: 180,872,550 (GRCm39) probably null Het
Itgam T C 7: 127,715,489 (GRCm39) probably null Het
Kcnh1 A G 1: 192,187,836 (GRCm39) S766G probably benign Het
Klra1 C A 6: 130,352,241 (GRCm39) C167F probably damaging Het
Krtap9-3 T A 11: 99,488,808 (GRCm39) T25S probably benign Het
Mapk6 T C 9: 75,295,626 (GRCm39) Y624C probably damaging Het
Or10ag2 A G 2: 87,249,187 (GRCm39) Y263C probably damaging Het
Or2y1g T C 11: 49,171,209 (GRCm39) V78A probably damaging Het
Or52e4 C T 7: 104,705,660 (GRCm39) S69L probably damaging Het
Or9m2 T A 2: 87,821,107 (GRCm39) Y217* probably null Het
P3h2 A G 16: 25,803,699 (GRCm39) S356P possibly damaging Het
Pde12 C T 14: 26,387,532 (GRCm39) probably null Het
Rln3 T G 8: 84,769,866 (GRCm39) K94N probably damaging Het
Skint5 T C 4: 113,620,711 (GRCm39) I668V unknown Het
Slitrk5 C A 14: 111,916,852 (GRCm39) Q159K probably damaging Het
Trim3 G T 7: 105,268,716 (GRCm39) N79K probably damaging Het
Tyw1 T A 5: 130,296,756 (GRCm39) C101* probably null Het
Ulk2 T C 11: 61,672,537 (GRCm39) T934A probably benign Het
Unc5b T C 10: 60,608,072 (GRCm39) Y687C probably benign Het
Vmn1r195 C T 13: 22,462,556 (GRCm39) R9* probably null Het
Zfc3h1 T G 10: 115,254,597 (GRCm39) L1397R probably damaging Het
Zfp296 T C 7: 19,311,332 (GRCm39) V9A probably benign Het
Zfp423 T A 8: 88,509,091 (GRCm39) S397C 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
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
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'- ATGAGACCCAGACTCTGTGTC -3'
(R):5'- CTGCACTGTGTATGTAGATGAAGG -3'

Sequencing Primer
(F):5'- GTCCTCCTGGTGGCCATATCATG -3'
(R):5'- TATAGATGCCCAGGATCGCC -3'
Posted On 2016-07-06