Incidental Mutation 'IGL03344:Olfr342'
ID417362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr342
Ensembl Gene ENSMUSG00000111869
Gene Nameolfactory receptor 342
SynonymsMOR136-4, GA_x6K02T2NLDC-33222024-33222962
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL03344
Quality Score
Status
Chromosome2
Chromosomal Location36524998-36530790 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36528128 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 239 (S239P)
Ref Sequence ENSEMBL: ENSMUSP00000149751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074192] [ENSMUST00000216275]
Predicted Effect probably damaging
Transcript: ENSMUST00000074192
AA Change: S239P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073818
Gene: ENSMUSG00000111869
AA Change: S239P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.7e-56 PFAM
Pfam:7tm_1 41 290 2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213794
Predicted Effect probably damaging
Transcript: ENSMUST00000216275
AA Change: S239P

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,248,376 I26N probably damaging Het
2410089E03Rik C A 15: 8,187,458 P720Q possibly damaging Het
AI314180 A C 4: 58,828,538 V965G probably damaging Het
Armc4 C A 18: 7,129,434 G915* probably null Het
Atxn7l1 A G 12: 33,326,066 N47D probably damaging Het
BC003331 T C 1: 150,363,544 E386G probably damaging Het
Cer1 A T 4: 82,884,825 W87R probably damaging Het
Chrna2 A G 14: 66,150,966 K477E probably damaging Het
Chtf8 G A 8: 106,886,272 P12S probably damaging Het
Deaf1 A T 7: 141,297,548 H555Q probably benign Het
Dopey1 T G 9: 86,536,144 I1975M probably damaging Het
Fsd2 C A 7: 81,559,909 V62L probably benign Het
Fxyd6 T G 9: 45,392,250 L81R probably benign Het
Htt T A 5: 34,879,828 S2086T probably benign Het
Htt T A 5: 34,907,466 S3008T probably benign Het
Mybbp1a G T 11: 72,445,202 R447L probably damaging Het
Nup210 A G 6: 91,021,429 V792A possibly damaging Het
Olfr392 T A 11: 73,814,177 I302L probably benign Het
Prokr1 T C 6: 87,588,500 D121G possibly damaging Het
Puf60 A G 15: 76,070,380 V548A possibly damaging Het
Serpina3c T C 12: 104,147,264 I408V probably benign Het
Ska2 A G 11: 87,109,313 probably benign Het
Slc4a9 T A 18: 36,535,601 Y745N probably damaging Het
Speer4f1 A G 5: 17,480,334 E209G possibly damaging Het
Spg20 T C 3: 55,121,685 M299T probably benign Het
Tmem202 T C 9: 59,519,068 T272A possibly damaging Het
Vegfc T A 8: 54,157,151 I114N possibly damaging Het
Vmn1r61 T A 7: 5,610,494 T274S possibly damaging Het
Zfpm2 A G 15: 41,102,774 N753S probably benign Het
Zmym6 A G 4: 127,120,521 T624A probably damaging Het
Other mutations in Olfr342
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Olfr342 APN 2 36527993 missense probably benign 0.22
IGL01372:Olfr342 APN 2 36527451 missense probably benign 0.00
IGL01747:Olfr342 APN 2 36527832 missense probably damaging 1.00
IGL01836:Olfr342 APN 2 36527825 nonsense probably null
IGL02409:Olfr342 APN 2 36528153 missense probably damaging 1.00
IGL02578:Olfr342 APN 2 36528144 missense probably damaging 1.00
IGL03396:Olfr342 APN 2 36527680 missense probably benign 0.00
R0086:Olfr342 UTSW 2 36527450 missense possibly damaging 0.69
R0427:Olfr342 UTSW 2 36527982 missense probably damaging 1.00
R0973:Olfr342 UTSW 2 36528008 missense probably benign 0.13
R0973:Olfr342 UTSW 2 36528008 missense probably benign 0.13
R0974:Olfr342 UTSW 2 36528008 missense probably benign 0.13
R2183:Olfr342 UTSW 2 36527711 nonsense probably null
R2437:Olfr342 UTSW 2 36528246 missense probably damaging 1.00
R4060:Olfr342 UTSW 2 36527414 start codon destroyed probably null 0.01
R4982:Olfr342 UTSW 2 36527397 critical splice acceptor site probably null
R5070:Olfr342 UTSW 2 36527766 missense probably damaging 1.00
R6244:Olfr342 UTSW 2 36528341 missense probably benign 0.00
Posted On2016-08-02