Incidental Mutation 'IGL01481:Olfr344'
ID278524
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: 0.082) question?
Stock #IGL01481
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,933,098 S523C probably damaging Het
Apaf1 A T 10: 91,031,588 D798E possibly damaging Het
Arhgef7 G T 8: 11,815,256 V410L probably benign Het
Capn7 T C 14: 31,355,339 L338P probably damaging Het
Cldn17 A G 16: 88,506,583 V86A probably benign Het
Clec4a2 A G 6: 123,142,500 N237S probably benign Het
Cmtr1 T G 17: 29,698,657 I654S probably benign Het
Cryzl2 G A 1: 157,470,739 probably null Het
Ctif A G 18: 75,611,784 probably benign Het
Dcaf7 T A 11: 106,054,746 I307N probably damaging Het
Drosha A T 15: 12,842,439 T399S probably benign Het
Eef2k A T 7: 120,895,218 Y35F probably benign Het
Emc1 T C 4: 139,362,099 S193P probably benign Het
Fpr2 T C 17: 17,892,763 I7T probably benign Het
Fras1 C A 5: 96,657,241 N1247K probably damaging Het
Gipr T C 7: 19,159,506 probably benign Het
Heatr5a C T 12: 51,955,425 G243S probably damaging Het
Hivep2 G A 10: 14,149,237 R2265Q probably benign Het
Iars T C 13: 49,728,698 S1073P probably benign Het
Inpp4b T C 8: 81,997,380 S514P probably damaging Het
Inpp5b T A 4: 124,800,699 probably null Het
Itga2 C T 13: 114,859,632 V708I possibly damaging Het
Itih5 A C 2: 10,190,289 Q164P probably damaging Het
Map3k19 T A 1: 127,822,478 E1045D probably damaging Het
Mbd5 T C 2: 49,278,939 V1374A possibly damaging Het
Mrps34 T C 17: 24,897,336 probably benign Het
Nadsyn1 T C 7: 143,812,584 D191G probably damaging Het
Nlrc3 T G 16: 3,963,905 N563H probably damaging Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1252 A G 2: 89,721,526 L195P probably damaging Het
Olfr654 C A 7: 104,587,860 P36T probably damaging Het
Olfr981 T C 9: 40,023,278 M295T possibly damaging Het
Pdgfd C A 9: 6,337,271 T195K probably null Het
Ptprz1 C A 6: 22,999,980 Q690K probably benign Het
Scfd1 T A 12: 51,384,120 M23K probably damaging Het
Scn10a G A 9: 119,609,194 R1869C probably damaging Het
Scp2 T C 4: 108,074,442 probably null Het
Sec61a1 A G 6: 88,506,847 V354A probably benign Het
Sgpp1 T C 12: 75,722,657 I246V probably benign Het
Slco2a1 G T 9: 103,070,251 D250Y probably damaging Het
Slit2 A G 5: 48,302,931 N1435D probably benign Het
Sspo A G 6: 48,448,515 I23M probably benign Het
Steap4 A T 5: 7,976,858 T274S probably damaging Het
Tbc1d22b T C 17: 29,568,598 L107P possibly damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem45a2 T A 16: 57,047,012 I109F probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Tox T A 4: 6,842,396 T45S probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wdr7 G A 18: 63,739,179 D395N 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
IGL01478:Olfr344 APN 2 36568742 missense probably damaging 1.00
IGL01480: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 unclassified 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
Posted On2015-04-16