Incidental Mutation 'IGL01478:Olfr344'
ID278522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr344
Ensembl Gene ENSMUSG00000096822
Gene Nameolfactory receptor 344
SynonymsGA_x6K02T2NLDC-33262744-33263673, MOR136-12
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL01478
Quality Score
Status
Chromosome2
Chromosomal Location36566662-36576178 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36568742 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 48 (L48H)
Ref Sequence ENSEMBL: ENSMUSP00000151202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075474] [ENSMUST00000215879]
Predicted Effect probably damaging
Transcript: ENSMUST00000075474
AA Change: L48H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074919
Gene: ENSMUSG00000096822
AA Change: L48H

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.7e-56 PFAM
Pfam:7tm_1 41 290 2.1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215879
AA Change: L48H

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,934,609 T613A probably benign Het
Cdh16 G T 8: 104,614,488 probably benign Het
Epn2 A G 11: 61,523,086 S419P probably benign Het
Eral1 A T 11: 78,075,732 V234D probably damaging Het
Fhad1 T C 4: 141,951,638 K576E possibly damaging Het
Frmd4b T A 6: 97,328,293 D170V probably damaging Het
Gm4353 A G 7: 116,083,740 V202A possibly damaging Het
Ighmbp2 A G 19: 3,274,531 I245T probably benign Het
Igsf23 G A 7: 19,938,236 probably benign Het
Krt1 A G 15: 101,846,286 probably benign Het
Mapk8 A G 14: 33,383,900 V371A probably benign Het
Mtrf1 T G 14: 79,402,920 probably benign Het
Myzap A G 9: 71,515,067 probably null Het
Nsrp1 C T 11: 77,050,652 V73I probably benign Het
Olfr1089 A T 2: 86,733,329 Y94* probably null Het
Olfr670 A G 7: 104,960,348 I128T probably damaging Het
Pex6 C T 17: 46,725,304 R976C probably benign Het
Ranbp9 G A 13: 43,414,084 T546I probably benign Het
Rfx5 T C 3: 94,958,440 V350A possibly damaging Het
Rnf19b A G 4: 129,058,830 E187G probably damaging Het
Sbf1 A G 15: 89,299,743 V1217A probably damaging Het
Sfmbt1 T A 14: 30,811,521 D618E probably damaging Het
Sipa1l1 A G 12: 82,446,898 E1697G probably benign Het
Syk A G 13: 52,624,748 Y290C probably benign Het
Trim69 T C 2: 122,178,443 L328P probably damaging Het
Unc5c T A 3: 141,828,451 I911N probably damaging Het
Wdr5 T C 2: 27,533,832 V294A probably damaging Het
Other mutations in Olfr344
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01093:Olfr344 APN 2 36568826 missense probably damaging 1.00
IGL01450:Olfr344 APN 2 36568742 missense probably damaging 1.00
IGL01452:Olfr344 APN 2 36568742 missense probably damaging 1.00
IGL01458:Olfr344 APN 2 36568742 missense probably damaging 1.00
IGL01466:Olfr344 APN 2 36568742 missense probably damaging 1.00
IGL01470:Olfr344 APN 2 36568742 missense probably damaging 1.00
IGL01476:Olfr344 APN 2 36568742 missense probably damaging 1.00
IGL01477:Olfr344 APN 2 36568742 missense probably damaging 1.00
IGL01480:Olfr344 APN 2 36568742 missense probably damaging 1.00
IGL01481:Olfr344 APN 2 36568742 missense probably damaging 1.00
IGL01487:Olfr344 APN 2 36568742 missense probably damaging 1.00
IGL01522:Olfr344 APN 2 36569221 missense probably benign 0.00
IGL02141:Olfr344 APN 2 36568808 missense probably damaging 1.00
IGL02510:Olfr344 APN 2 36568681 missense possibly damaging 0.87
IGL02896:Olfr344 APN 2 36569205 missense possibly damaging 0.88
IGL03032:Olfr344 APN 2 36568704 nonsense probably null
R0081:Olfr344 UTSW 2 36568881 nonsense probably null
R0581:Olfr344 UTSW 2 36568822 missense probably damaging 1.00
R0611:Olfr344 UTSW 2 36569556 splice site probably null
R1503:Olfr344 UTSW 2 36568873 missense probably damaging 1.00
R1844:Olfr344 UTSW 2 36568777 missense probably damaging 1.00
R2320:Olfr344 UTSW 2 36568625 missense possibly damaging 0.90
R4088:Olfr344 UTSW 2 36569018 missense probably damaging 1.00
R5243:Olfr344 UTSW 2 36568643 missense probably damaging 1.00
R5747:Olfr344 UTSW 2 36568967 missense probably damaging 0.98
R5948:Olfr344 UTSW 2 36569351 missense probably damaging 1.00
R6115:Olfr344 UTSW 2 36568951 missense probably damaging 1.00
R6158:Olfr344 UTSW 2 36569116 missense probably benign 0.03
R6198:Olfr344 UTSW 2 36568951 missense probably damaging 1.00
R6531:Olfr344 UTSW 2 36569341 missense probably damaging 1.00
R7075:Olfr344 UTSW 2 36569180 missense probably benign 0.01
R7193:Olfr344 UTSW 2 36569236 missense probably benign 0.06
R7329:Olfr344 UTSW 2 36568696 missense probably benign
R7659:Olfr344 UTSW 2 36568625 missense possibly damaging 0.90
R8251:Olfr344 UTSW 2 36569455 missense probably damaging 1.00
R8383:Olfr344 UTSW 2 36569002 missense probably benign 0.08
R8507:Olfr344 UTSW 2 36569431 missense probably damaging 0.98
R8698:Olfr344 UTSW 2 36568903 missense possibly damaging 0.78
R8837:Olfr344 UTSW 2 36568691 missense probably benign 0.35
Posted On2015-04-16