Incidental Mutation 'IGL01109:Or5d38'
ID 50535
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5d38
Ensembl Gene ENSMUSG00000101078
Gene Name olfactory receptor family 5 subfamily D member 38
Synonyms GA_x6K02T2Q125-49616865-49615915, MOR174-6, Olfr1166
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL01109
Quality Score
Status
Chromosome 2
Chromosomal Location 87953704-87955337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87955023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 102 (Q102R)
Ref Sequence ENSEMBL: ENSMUSP00000149099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099833] [ENSMUST00000217575]
AlphaFold Q7TR27
Predicted Effect probably damaging
Transcript: ENSMUST00000099833
AA Change: Q102R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097421
Gene: ENSMUSG00000101078
AA Change: Q102R

DomainStartEndE-ValueType
Pfam:7tm_4 33 310 6e-51 PFAM
Pfam:7tm_1 43 292 3e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217575
AA Change: Q102R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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
Alpk2 T C 18: 65,440,211 (GRCm39) D861G probably benign Het
Anapc4 A G 5: 53,005,970 (GRCm39) T326A probably damaging Het
Atm T C 9: 53,401,593 (GRCm39) I1425M probably damaging Het
Bend5 T C 4: 111,305,838 (GRCm39) L294P probably damaging Het
Casp7 T A 19: 56,425,177 (GRCm39) D193E probably benign Het
Cdc16 T C 8: 13,814,606 (GRCm39) V130A probably benign Het
Chl1 T G 6: 103,692,354 (GRCm39) Y331D probably damaging Het
Cntn1 C A 15: 92,237,458 (GRCm39) Y1017* probably null Het
Cyb5d1 C A 11: 69,284,610 (GRCm39) probably null Het
Cyp2c38 A G 19: 39,451,329 (GRCm39) probably null Het
Dzip3 T C 16: 48,750,037 (GRCm39) M827V probably benign Het
Ehd1 T A 19: 6,348,177 (GRCm39) M385K possibly damaging Het
Eya3 C A 4: 132,420,311 (GRCm39) Y52* probably null Het
Itsn1 C T 16: 91,603,089 (GRCm39) probably benign Het
Ktn1 A T 14: 47,952,178 (GRCm39) N983I probably damaging Het
Lrrk2 T A 15: 91,623,035 (GRCm39) N1068K probably damaging Het
Mup6 T A 4: 60,006,001 (GRCm39) N156K probably damaging Het
Nedd9 T A 13: 41,469,710 (GRCm39) H481L probably benign Het
Obscn T C 11: 59,024,588 (GRCm39) D484G probably damaging Het
Ogdh T C 11: 6,298,790 (GRCm39) V674A probably damaging Het
Or4a27 T C 2: 88,559,409 (GRCm39) D178G probably damaging Het
Or4f54 G A 2: 111,122,864 (GRCm39) D84N probably benign Het
Or5b113 A G 19: 13,342,063 (GRCm39) I24V probably benign Het
Or8g53 T C 9: 39,683,293 (GRCm39) M268V probably benign Het
Or8k32 T A 2: 86,368,674 (GRCm39) D195V probably benign Het
Osbpl6 A G 2: 76,379,871 (GRCm39) T154A probably damaging Het
P2rx1 T C 11: 72,899,041 (GRCm39) V84A probably damaging Het
Pcdh11x G A X: 119,310,611 (GRCm39) V685I possibly damaging Het
Ppp4r3b T A 11: 29,138,288 (GRCm39) V212E probably damaging Het
Prune2 A G 19: 17,101,243 (GRCm39) D2249G probably benign Het
Slc5a8 T A 10: 88,742,254 (GRCm39) S317T possibly damaging Het
Ssc5d T A 7: 4,940,111 (GRCm39) L822* probably null Het
Swt1 A G 1: 151,286,890 (GRCm39) S201P probably damaging Het
Tet1 T A 10: 62,715,553 (GRCm39) M81L probably benign Het
Tex9 T A 9: 72,395,349 (GRCm39) N39I probably damaging Het
Ttc4 T C 4: 106,520,360 (GRCm39) Y378C probably damaging Het
Ubap2 T C 4: 41,195,155 (GRCm39) N1131S probably damaging Het
Ugt2b35 C T 5: 87,156,165 (GRCm39) T419I probably damaging Het
Ugt3a1 T G 15: 9,367,354 (GRCm39) F366V probably damaging Het
Zfp324 A G 7: 12,703,362 (GRCm39) T95A probably benign Het
Other mutations in Or5d38
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1037:Or5d38 UTSW 2 87,954,573 (GRCm39) missense probably damaging 0.97
R1452:Or5d38 UTSW 2 87,954,655 (GRCm39) missense probably benign 0.01
R1842:Or5d38 UTSW 2 87,954,471 (GRCm39) missense probably damaging 1.00
R2005:Or5d38 UTSW 2 87,954,891 (GRCm39) missense probably damaging 1.00
R4106:Or5d38 UTSW 2 87,954,817 (GRCm39) missense possibly damaging 0.67
R4930:Or5d38 UTSW 2 87,954,684 (GRCm39) missense probably benign 0.08
R5473:Or5d38 UTSW 2 87,954,981 (GRCm39) missense possibly damaging 0.94
R5911:Or5d38 UTSW 2 87,955,027 (GRCm39) missense probably benign
R6596:Or5d38 UTSW 2 87,954,543 (GRCm39) missense probably damaging 1.00
R7842:Or5d38 UTSW 2 87,955,330 (GRCm39) start gained probably benign
R8902:Or5d38 UTSW 2 87,954,778 (GRCm39) missense probably damaging 1.00
R8943:Or5d38 UTSW 2 87,954,718 (GRCm39) missense probably damaging 0.98
R9120:Or5d38 UTSW 2 87,955,123 (GRCm39) missense probably damaging 1.00
R9240:Or5d38 UTSW 2 87,955,231 (GRCm39) missense probably benign 0.26
R9733:Or5d38 UTSW 2 87,955,000 (GRCm39) missense probably damaging 0.99
R9783:Or5d38 UTSW 2 87,954,610 (GRCm39) missense probably benign 0.07
Posted On 2013-06-21