Incidental Mutation 'IGL00952:Or5p81'
ID 27865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5p81
Ensembl Gene ENSMUSG00000096209
Gene Name olfactory receptor family 5 subfamily P member 81
Synonyms MOR204-34, GA_x6K02T2PBJ9-10997715-10998659, Olfr510
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL00952
Quality Score
Status
Chromosome 7
Chromosomal Location 108265625-108267569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108267445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 274 (N274S)
Ref Sequence ENSEMBL: ENSMUSP00000149693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076289] [ENSMUST00000213979] [ENSMUST00000216331] [ENSMUST00000217170]
AlphaFold Q8VEW6
Predicted Effect possibly damaging
Transcript: ENSMUST00000076289
AA Change: N274S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075637
Gene: ENSMUSG00000096209
AA Change: N274S

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 3e-50 PFAM
Pfam:7tm_1 44 293 4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210621
AA Change: N274S
Predicted Effect possibly damaging
Transcript: ENSMUST00000213979
AA Change: N274S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216331
AA Change: N274S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217170
AA Change: N274S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T G 6: 40,941,733 (GRCm39) I4S probably benign Het
Abca8b A G 11: 109,859,886 (GRCm39) probably null Het
Aftph A T 11: 20,677,483 (GRCm39) V42E probably damaging Het
AI467606 A G 7: 126,691,874 (GRCm39) S150G probably damaging Het
Art4 T C 6: 136,831,818 (GRCm39) N108D possibly damaging Het
B9d1 G A 11: 61,403,504 (GRCm39) V167I possibly damaging Het
Ccdc47 A T 11: 106,094,358 (GRCm39) probably null Het
Ccdc96 T A 5: 36,642,424 (GRCm39) probably benign Het
Cfap44 A G 16: 44,241,638 (GRCm39) I670V probably benign Het
Col18a1 T G 10: 76,905,813 (GRCm39) K909Q possibly damaging Het
Col8a2 A G 4: 126,203,584 (GRCm39) Y59C probably damaging Het
Coro6 A T 11: 77,359,291 (GRCm39) D288V probably damaging Het
Cul4a C T 8: 13,196,562 (GRCm39) L739F probably damaging Het
Dmxl2 C T 9: 54,324,166 (GRCm39) V1073I probably damaging Het
Dnah11 T C 12: 118,160,386 (GRCm39) T115A possibly damaging Het
Fdx2 A G 9: 20,984,558 (GRCm39) probably null Het
Flnc C T 6: 29,459,546 (GRCm39) Q2549* probably null Het
Foxn2 T C 17: 88,783,308 (GRCm39) C188R probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ilf3 T C 9: 21,307,347 (GRCm39) L343P probably damaging Het
Itgb2l C T 16: 96,227,950 (GRCm39) G518S probably damaging Het
Itpr2 T A 6: 146,060,459 (GRCm39) I2486F probably damaging Het
Kat2a A G 11: 100,596,977 (GRCm39) V681A probably damaging Het
Kif17 A G 4: 137,990,019 (GRCm39) N69S possibly damaging Het
Kif26b G A 1: 178,759,770 (GRCm39) D2106N probably damaging Het
Klf6 A G 13: 5,911,680 (GRCm39) T15A probably benign Het
Lyst A G 13: 13,852,692 (GRCm39) T2231A probably benign Het
Mark4 T C 7: 19,165,749 (GRCm39) T515A possibly damaging Het
Mast3 A T 8: 71,233,327 (GRCm39) probably benign Het
Nalcn T C 14: 123,586,201 (GRCm39) K722R probably benign Het
Ncf2 G A 1: 152,711,857 (GRCm39) E524K probably benign Het
Or56a3b A G 7: 104,771,614 (GRCm39) probably null Het
Or5w12 A T 2: 87,502,159 (GRCm39) I184N probably damaging Het
Or8c17 A T 9: 38,179,801 (GRCm39) probably benign Het
Plcg2 A T 8: 118,333,956 (GRCm39) M910L probably benign Het
Pramel14 T C 4: 143,719,894 (GRCm39) H157R probably benign Het
Rai1 A T 11: 60,078,818 (GRCm39) K961* probably null Het
Rsph14 T C 10: 74,865,601 (GRCm39) D112G probably benign Het
Sgo1 T A 17: 53,994,275 (GRCm39) D59V probably damaging Het
Slc22a29 A T 19: 8,195,221 (GRCm39) V138E probably damaging Het
Slc9a1 T A 4: 133,143,693 (GRCm39) V393D probably damaging Het
Smg6 A G 11: 74,819,974 (GRCm39) R82G probably benign Het
Sppl3 T C 5: 115,212,935 (GRCm39) S55P probably benign Het
Srsf12 A C 4: 33,226,103 (GRCm39) Q122P possibly damaging Het
Tas1r2 T C 4: 139,382,563 (GRCm39) M67T probably benign Het
Thnsl1 G A 2: 21,216,767 (GRCm39) V174I possibly damaging Het
Thumpd1 A G 7: 119,316,232 (GRCm39) V239A possibly damaging Het
Tnxb T G 17: 34,932,102 (GRCm39) Y2212D probably damaging Het
Trim40 T C 17: 37,193,289 (GRCm39) *213W probably null Het
Ttc16 T C 2: 32,660,259 (GRCm39) D183G probably damaging Het
Other mutations in Or5p81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Or5p81 APN 7 108,266,907 (GRCm39) missense possibly damaging 0.61
IGL01358:Or5p81 APN 7 108,266,869 (GRCm39) missense possibly damaging 0.90
IGL01663:Or5p81 APN 7 108,267,098 (GRCm39) missense probably benign 0.01
IGL02686:Or5p81 APN 7 108,267,093 (GRCm39) missense probably benign 0.00
PIT4466001:Or5p81 UTSW 7 108,266,743 (GRCm39) missense possibly damaging 0.52
R0095:Or5p81 UTSW 7 108,267,252 (GRCm39) missense probably benign 0.00
R0095:Or5p81 UTSW 7 108,267,252 (GRCm39) missense probably benign 0.00
R0792:Or5p81 UTSW 7 108,267,364 (GRCm39) missense probably damaging 1.00
R0925:Or5p81 UTSW 7 108,267,400 (GRCm39) missense probably benign 0.00
R1829:Or5p81 UTSW 7 108,266,851 (GRCm39) missense probably benign 0.24
R2092:Or5p81 UTSW 7 108,266,869 (GRCm39) frame shift probably null
R2483:Or5p81 UTSW 7 108,266,869 (GRCm39) frame shift probably null
R3619:Or5p81 UTSW 7 108,267,057 (GRCm39) missense probably benign 0.00
R4386:Or5p81 UTSW 7 108,267,460 (GRCm39) missense probably damaging 0.99
R5298:Or5p81 UTSW 7 108,267,279 (GRCm39) missense probably benign 0.00
R5622:Or5p81 UTSW 7 108,267,289 (GRCm39) missense probably benign
R6079:Or5p81 UTSW 7 108,267,412 (GRCm39) missense probably damaging 0.97
R6138:Or5p81 UTSW 7 108,267,412 (GRCm39) missense probably damaging 0.97
R8359:Or5p81 UTSW 7 108,267,518 (GRCm39) missense probably benign 0.00
R8848:Or5p81 UTSW 7 108,266,929 (GRCm39) missense probably benign 0.03
R8994:Or5p81 UTSW 7 108,267,169 (GRCm39) missense probably damaging 0.96
R9360:Or5p81 UTSW 7 108,266,977 (GRCm39) missense probably damaging 1.00
R9439:Or5p81 UTSW 7 108,266,626 (GRCm39) start codon destroyed probably null 0.97
R9641:Or5p81 UTSW 7 108,267,516 (GRCm39) missense probably damaging 0.98
U15987:Or5p81 UTSW 7 108,267,412 (GRCm39) missense probably damaging 0.97
Z1177:Or5p81 UTSW 7 108,267,043 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17