Incidental Mutation 'IGL02163:Olfr129'
ID282530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr129
Ensembl Gene ENSMUSG00000081724
Gene Nameolfactory receptor 129
SynonymsGA_x6K02T2PSCP-2503741-2502776, MOR263-9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #IGL02163
Quality Score
Status
Chromosome17
Chromosomal Location38050857-38060079 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38054750 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 281 (H281R)
Ref Sequence ENSEMBL: ENSMUSP00000113564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122318] [ENSMUST00000174675] [ENSMUST00000216476]
Predicted Effect probably benign
Transcript: ENSMUST00000122318
AA Change: H281R

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113564
Gene: ENSMUSG00000081724
AA Change: H281R

DomainStartEndE-ValueType
Pfam:7tm_4 46 323 4.6e-56 PFAM
Pfam:7TM_GPCR_Srsx 50 319 1.1e-5 PFAM
Pfam:7tm_1 56 305 3.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174675
AA Change: H272R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000133865
Gene: ENSMUSG00000060017
AA Change: H272R

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000216476
AA Change: H272R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik A G 14: 49,774,157 V31A possibly damaging Het
4930447A16Rik T C 15: 37,439,608 probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cap1 C T 4: 122,862,416 V396I probably benign Het
Ccdc80 T C 16: 45,096,114 V411A probably benign Het
Cyp2w1 T A 5: 139,356,165 M111K probably damaging Het
Dopey2 T C 16: 93,762,427 V687A possibly damaging Het
Fam160a1 A G 3: 85,688,552 F342S possibly damaging Het
Fam184a T C 10: 53,647,134 probably null Het
Foxred1 A T 9: 35,205,896 L313H probably damaging Het
Gm38392 G A 3: 88,245,580 probably benign Het
Kmt2d A T 15: 98,835,228 probably benign Het
Lrpprc A T 17: 84,753,472 M591K probably damaging Het
Ncr1 A T 7: 4,341,263 S217C possibly damaging Het
Olfr20 T A 11: 73,354,494 V247E probably damaging Het
Pds5b T C 5: 150,756,406 F526L probably benign Het
Plekhh2 A T 17: 84,590,795 S955C probably benign Het
Prpf19 T A 19: 10,902,436 S307R probably benign Het
Pwp2 G A 10: 78,178,285 P456S possibly damaging Het
Rgs8 C A 1: 153,671,765 T47K possibly damaging Het
Samd9l T A 6: 3,374,246 N1005I possibly damaging Het
Tmc4 A G 7: 3,666,825 L20P probably damaging Het
Ttc21a C T 9: 119,950,835 Q403* probably null Het
Zbtb43 T C 2: 33,453,783 R477G possibly damaging Het
Other mutations in Olfr129
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02140:Olfr129 APN 17 38055590 start codon destroyed probably null 0.15
IGL02374:Olfr129 APN 17 38055521 missense probably damaging 1.00
R0840:Olfr129 UTSW 17 38055572 missense probably benign 0.00
R1774:Olfr129 UTSW 17 38055437 missense probably benign 0.00
R3720:Olfr129 UTSW 17 38055368 missense probably damaging 1.00
R3794:Olfr129 UTSW 17 38054895 missense probably damaging 1.00
R3840:Olfr129 UTSW 17 38055348 missense probably damaging 1.00
R4002:Olfr129 UTSW 17 38054988 missense probably damaging 1.00
R4273:Olfr129 UTSW 17 38055272 missense probably damaging 1.00
R4872:Olfr129 UTSW 17 38055576 missense probably benign
R5606:Olfr129 UTSW 17 38054802 missense probably damaging 0.98
R6309:Olfr129 UTSW 17 38055152 missense probably damaging 1.00
R7269:Olfr129 UTSW 17 38055551 missense probably damaging 1.00
R7450:Olfr129 UTSW 17 38055109 missense probably benign 0.00
R7829:Olfr129 UTSW 17 38055329 missense possibly damaging 0.64
R8103:Olfr129 UTSW 17 38055012 missense probably damaging 1.00
Posted On2015-04-16