Incidental Mutation 'IGL01447:Or5d36'
ID 84473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5d36
Ensembl Gene ENSMUSG00000075137
Gene Name olfactory receptor family 5 subfamily D member 36
Synonyms Olfr1163, MOR174-8, GA_x6K02T2Q125-49563265-49562315
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01447
Quality Score
Status
Chromosome 2
Chromosomal Location 87900709-87901751 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87901468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 86 (N86S)
Ref Sequence ENSEMBL: ENSMUSP00000149399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099835] [ENSMUST00000215268]
AlphaFold Q8VFR4
Predicted Effect possibly damaging
Transcript: ENSMUST00000099835
AA Change: N86S

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097423
Gene: ENSMUSG00000075137
AA Change: N86S

DomainStartEndE-ValueType
Pfam:7tm_4 33 310 1.2e-44 PFAM
Pfam:7tm_1 43 292 2.3e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215268
AA Change: N86S

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip T G 2: 22,743,194 (GRCm39) I342S probably damaging Het
Armh4 A T 14: 50,005,923 (GRCm39) S591T probably damaging Het
Atp6v1e1 T C 6: 120,772,654 (GRCm39) probably benign Het
Brwd1 A T 16: 95,848,579 (GRCm39) C533* probably null Het
Cacna2d4 A G 6: 119,219,865 (GRCm39) S212G probably damaging Het
Ccn5 A G 2: 163,670,942 (GRCm39) R150G probably damaging Het
Cit T C 5: 116,011,902 (GRCm39) probably benign Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr1 T C 5: 113,752,282 (GRCm39) T240A probably benign Het
D630003M21Rik T C 2: 158,059,276 (GRCm39) D208G probably benign Het
Egr3 C A 14: 70,316,732 (GRCm39) P143Q probably damaging Het
Fbxw18 T A 9: 109,530,675 (GRCm39) S41C probably damaging Het
Focad T A 4: 88,244,465 (GRCm39) I815N unknown Het
Heatr5b T C 17: 79,137,026 (GRCm39) T165A probably benign Het
Iqub G T 6: 24,505,627 (GRCm39) L94I probably benign Het
Lrrc32 T C 7: 98,147,583 (GRCm39) L121P probably damaging Het
Mansc1 G A 6: 134,594,289 (GRCm39) L118F probably damaging Het
Mtor A G 4: 148,615,214 (GRCm39) H1693R possibly damaging Het
Muc5b A G 7: 141,416,831 (GRCm39) Q3259R probably benign Het
Nmnat2 A G 1: 152,988,189 (GRCm39) S273G possibly damaging Het
Npr2 T C 4: 43,640,554 (GRCm39) C336R possibly damaging Het
Or10al6 C T 17: 38,083,122 (GRCm39) L193F probably damaging Het
Or1f19 A G 16: 3,410,848 (GRCm39) N196S possibly damaging Het
Or1j11 A T 2: 36,311,466 (GRCm39) I19F probably damaging Het
Or56b1b A G 7: 108,164,216 (GRCm39) V262A possibly damaging Het
Or5aq1 A T 2: 86,966,343 (GRCm39) Y107* probably null Het
Rad54l2 C T 9: 106,579,971 (GRCm39) A967T probably damaging Het
Rspo1 T C 4: 124,898,829 (GRCm39) V50A possibly damaging Het
Sar1b C T 11: 51,682,274 (GRCm39) probably benign Het
Scamp1 C T 13: 94,340,530 (GRCm39) A280T probably damaging Het
Spcs2 A G 7: 99,488,911 (GRCm39) I251T probably benign Het
Sspo G T 6: 48,441,600 (GRCm39) probably null Het
Tpm2 T A 4: 43,518,251 (GRCm39) K251* probably null Het
Ttn A G 2: 76,571,250 (GRCm39) S26548P probably damaging Het
Ugcg T G 4: 59,213,865 (GRCm39) V149G possibly damaging Het
Unc79 T A 12: 103,045,177 (GRCm39) N784K probably damaging Het
Vit A G 17: 78,932,633 (GRCm39) D580G probably damaging Het
Vmn1r83 T C 7: 12,055,424 (GRCm39) K211R probably benign Het
Zbtb3 A G 19: 8,781,680 (GRCm39) Y431C probably damaging Het
Zfp608 T C 18: 55,032,083 (GRCm39) D619G possibly damaging Het
Other mutations in Or5d36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Or5d36 APN 2 87,901,322 (GRCm39) missense possibly damaging 0.56
IGL02111:Or5d36 APN 2 87,901,571 (GRCm39) missense probably benign 0.22
R1274:Or5d36 UTSW 2 87,900,939 (GRCm39) missense probably damaging 1.00
R1938:Or5d36 UTSW 2 87,901,300 (GRCm39) missense probably damaging 1.00
R2012:Or5d36 UTSW 2 87,901,063 (GRCm39) missense probably benign 0.03
R3056:Or5d36 UTSW 2 87,901,583 (GRCm39) missense probably benign
R4127:Or5d36 UTSW 2 87,901,579 (GRCm39) missense probably benign 0.00
R4748:Or5d36 UTSW 2 87,900,956 (GRCm39) missense probably benign 0.44
R4749:Or5d36 UTSW 2 87,900,956 (GRCm39) missense probably benign 0.44
R4769:Or5d36 UTSW 2 87,901,073 (GRCm39) missense probably benign 0.25
R6647:Or5d36 UTSW 2 87,901,053 (GRCm39) missense probably benign 0.03
R7111:Or5d36 UTSW 2 87,901,000 (GRCm39) missense probably damaging 1.00
R7168:Or5d36 UTSW 2 87,900,921 (GRCm39) missense probably benign 0.37
R8222:Or5d36 UTSW 2 87,901,381 (GRCm39) missense probably benign 0.00
R8869:Or5d36 UTSW 2 87,901,753 (GRCm39) critical splice acceptor site probably null
R9043:Or5d36 UTSW 2 87,900,983 (GRCm39) missense possibly damaging 0.94
R9205:Or5d36 UTSW 2 87,900,778 (GRCm39) missense probably benign 0.16
Posted On 2013-11-11