Incidental Mutation 'IGL01476:Olfr344'
ID278516
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: 0.083) question?
Stock #IGL01476
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Abcc10 A G 17: 46,327,937 probably benign Het
Atp13a2 G A 4: 141,000,770 C558Y probably damaging Het
BC017643 T C 11: 121,225,845 Y86C probably damaging Het
Btbd1 G A 7: 81,801,049 R328* probably null Het
Cdk8 A G 5: 146,295,163 probably null Het
Chd8 A T 14: 52,205,490 N534K probably benign Het
Dlgap2 C T 8: 14,778,301 R570* probably null Het
Eri2 A C 7: 119,790,249 F149V probably damaging Het
Esyt1 A G 10: 128,511,494 M1054T probably damaging Het
Gcm2 A G 13: 41,105,741 V84A probably damaging Het
Gm597 A T 1: 28,777,453 H499Q probably benign Het
Got1 A C 19: 43,524,409 V16G probably damaging Het
Itga9 C T 9: 118,607,111 R62C probably damaging Het
Kif21a T C 15: 90,943,864 R1232G possibly damaging Het
Map1a A G 2: 121,305,207 Y1930C probably damaging Het
Olfr384 T C 11: 73,603,230 S217P probably damaging Het
Olfr701 G A 7: 106,818,620 C179Y probably damaging Het
Pclo A G 5: 14,521,108 K169R probably damaging Het
Rnf169 A C 7: 99,955,484 Y174D probably damaging Het
Sarm1 T C 11: 78,490,811 E282G probably damaging Het
Sec24a A G 11: 51,708,956 S840P possibly damaging Het
Skor2 A T 18: 76,858,667 Q28L unknown Het
Slc35f2 T C 9: 53,806,706 V168A possibly damaging Het
Slc6a7 A T 18: 61,005,773 L221Q probably damaging Het
Syt4 A T 18: 31,441,643 V307E probably damaging Het
Tasp1 A G 2: 140,008,773 L110S probably benign Het
Thnsl1 T A 2: 21,212,159 D241E probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tpbpb A T 13: 60,902,134 D60E probably benign Het
Trip11 T C 12: 101,898,911 I168V probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wscd2 A G 5: 113,572,321 D302G 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
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
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 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
Posted On2015-04-16