Incidental Mutation 'IGL02729:Or1ad8'
ID 305357
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02729
Quality Score
Status
Chromosome 11
Chromosomal Location 50897801-50898724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50897892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 31 (F31S)
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: F31S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075832
Gene: ENSMUSG00000060918
AA Change: F31S

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: F31S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,499,455 (GRCm39) E1358G probably benign Het
Alpk1 T A 3: 127,474,721 (GRCm39) L427F possibly damaging Het
Atat1 T C 17: 36,209,283 (GRCm39) T326A probably benign Het
Calcr T A 6: 3,707,595 (GRCm39) H235L probably benign Het
Cdc16 A G 8: 13,829,250 (GRCm39) D512G possibly damaging Het
Cilp G A 9: 65,185,372 (GRCm39) R489Q possibly damaging Het
Ddx4 C T 13: 112,787,946 (GRCm39) probably benign Het
Dennd1c T C 17: 57,373,637 (GRCm39) D612G probably benign Het
Hyal6 A C 6: 24,734,694 (GRCm39) Y209S probably damaging Het
Irf4 T C 13: 30,937,574 (GRCm39) probably null Het
Itgae T C 11: 73,009,029 (GRCm39) probably benign Het
L3mbtl4 C T 17: 68,791,738 (GRCm39) T272I probably benign Het
Lyst T C 13: 13,848,924 (GRCm39) I2037T possibly damaging Het
Lyst C A 13: 13,921,194 (GRCm39) P3380Q possibly damaging Het
Mgat4b A G 11: 50,124,136 (GRCm39) I359V probably benign Het
Mybl1 A T 1: 9,742,795 (GRCm39) D604E probably benign Het
Myh7b A T 2: 155,467,609 (GRCm39) S745C probably damaging Het
Or13c7 C A 4: 43,854,439 (GRCm39) N43K probably damaging Het
Or6c212 T G 10: 129,559,390 (GRCm39) I8L probably benign Het
Pced1a A T 2: 130,263,823 (GRCm39) H276Q probably benign Het
Pdx1 C A 5: 147,211,424 (GRCm39) P215Q probably benign Het
Pdzd7 T C 19: 45,034,082 (GRCm39) M1V probably null Het
Prrc2b T A 2: 32,098,770 (GRCm39) M621K probably damaging Het
Ptprh T G 7: 4,583,873 (GRCm39) N240H probably damaging Het
Rsph1 T A 17: 31,492,293 (GRCm39) E91V probably damaging Het
Scn1a A G 2: 66,129,994 (GRCm39) C1274R probably damaging Het
Skic2 G A 17: 35,058,581 (GRCm39) P1179S possibly damaging Het
Skint7 C A 4: 111,839,367 (GRCm39) F220L probably benign Het
Slit1 T A 19: 41,591,773 (GRCm39) Y1283F probably damaging Het
Taf1b A G 12: 24,597,624 (GRCm39) probably benign Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Utrn A G 10: 12,596,554 (GRCm39) probably benign Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Zfp276 T C 8: 123,994,555 (GRCm39) Y541H probably damaging Het
Zfp40 C T 17: 23,397,285 (GRCm39) V3I probably damaging Het
Zfp536 T A 7: 37,193,143 (GRCm39) H766L probably damaging Het
Zfyve21 A G 12: 111,791,485 (GRCm39) I157V probably benign Het
Other mutations in Or1ad8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01771:Or1ad8 APN 11 50,898,593 (GRCm39) missense probably benign 0.15
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
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
Posted On 2015-04-16