Incidental Mutation 'IGL01373:Olfr744'
ID84070
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr744
Ensembl Gene ENSMUSG00000053815
Gene Nameolfactory receptor 744
SynonymsMOR106-13P, GA_x6K02T2PMLR-6326342-6327313
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL01373
Quality Score
Status
Chromosome14
Chromosomal Location50614879-50619839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 50618612 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 130 (I130N)
Ref Sequence ENSEMBL: ENSMUSP00000148954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066457] [ENSMUST00000213668] [ENSMUST00000216690]
Predicted Effect probably damaging
Transcript: ENSMUST00000066457
AA Change: I130N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066496
Gene: ENSMUSG00000053815
AA Change: I130N

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 2.9e-48 PFAM
Pfam:7tm_1 45 294 1.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213668
AA Change: I130N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216690
AA Change: I130N

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,711,419 R510* probably null Het
Adamts12 A T 15: 11,310,730 E1024D probably benign Het
Aff2 T A X: 69,867,729 D1239E possibly damaging Het
Agps T C 2: 75,852,784 V151A probably benign Het
Cables1 A T 18: 11,888,764 R276S probably damaging Het
Cep72 A G 13: 74,059,459 S64P probably damaging Het
Cmah A T 13: 24,430,549 D159V probably damaging Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpxm1 T C 2: 130,394,135 E369G probably damaging Het
Dnah6 A G 6: 73,074,748 L3021P probably benign Het
Esyt1 T C 10: 128,518,941 E530G possibly damaging Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbxw24 C T 9: 109,623,633 G98D probably damaging Het
Folh1 T C 7: 86,746,142 I361V probably benign Het
Gm12666 A G 4: 92,191,625 V42A probably damaging Het
Gpr19 T A 6: 134,870,321 H41L possibly damaging Het
Kcnq4 A G 4: 120,717,032 V143A probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lpin3 G T 2: 160,903,729 D651Y probably damaging Het
Ms4a6b A T 19: 11,529,507 H220L possibly damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Nxnl2 T C 13: 51,171,452 F44L probably damaging Het
Olfr698 T C 7: 106,752,446 probably benign Het
Pcdhb20 A T 18: 37,506,568 R716W probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Plekhf1 T C 7: 38,221,797 T116A probably benign Het
Psmb2 G T 4: 126,687,092 R93L probably damaging Het
Pstpip2 T A 18: 77,835,216 L42* probably null Het
Ptpn22 A T 3: 103,886,204 D557V probably damaging Het
Rbbp5 G A 1: 132,492,601 V191I probably benign Het
Rgs1 T A 1: 144,245,378 D185V probably damaging Het
Selenoh A G 2: 84,670,594 probably benign Het
Slc6a5 C T 7: 49,917,733 P312S probably benign Het
Snapc1 T A 12: 73,964,680 M40K probably benign Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Syne2 T C 12: 75,987,107 I3710T probably damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tex9 A T 9: 72,480,754 D134E possibly damaging Het
Ttc41 G T 10: 86,775,957 C1063F possibly damaging Het
Usp38 C A 8: 80,990,018 A496S possibly damaging Het
Vmn2r13 T A 5: 109,156,702 Y621F probably damaging Het
Vmn2r67 T A 7: 85,136,626 M724L probably benign Het
Other mutations in Olfr744
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:Olfr744 APN 14 50618251 missense possibly damaging 0.86
IGL02165:Olfr744 APN 14 50619011 missense probably damaging 1.00
IGL02207:Olfr744 APN 14 50618558 missense probably damaging 1.00
IGL02556:Olfr744 APN 14 50618728 missense probably benign 0.01
IGL02710:Olfr744 APN 14 50618798 missense probably benign 0.02
R0127:Olfr744 UTSW 14 50618332 missense probably benign
R0389:Olfr744 UTSW 14 50618579 missense probably damaging 1.00
R0603:Olfr744 UTSW 14 50618510 missense probably damaging 1.00
R0927:Olfr744 UTSW 14 50618587 missense possibly damaging 0.47
R1477:Olfr744 UTSW 14 50618713 missense probably damaging 0.98
R1705:Olfr744 UTSW 14 50619122 missense probably benign 0.01
R1800:Olfr744 UTSW 14 50618686 missense probably benign 0.01
R1898:Olfr744 UTSW 14 50618774 missense probably damaging 1.00
R2244:Olfr744 UTSW 14 50618657 missense probably damaging 1.00
R4731:Olfr744 UTSW 14 50618569 missense probably benign 0.11
R4732:Olfr744 UTSW 14 50618569 missense probably benign 0.11
R4733:Olfr744 UTSW 14 50618569 missense probably benign 0.11
R4801:Olfr744 UTSW 14 50619022 missense probably benign 0.01
R4802:Olfr744 UTSW 14 50619022 missense probably benign 0.01
R5068:Olfr744 UTSW 14 50618740 missense probably damaging 1.00
R5069:Olfr744 UTSW 14 50618740 missense probably damaging 1.00
R5070:Olfr744 UTSW 14 50618474 missense probably benign 0.11
R5070:Olfr744 UTSW 14 50618740 missense probably damaging 1.00
R5195:Olfr744 UTSW 14 50618786 missense probably damaging 1.00
R6058:Olfr744 UTSW 14 50618701 missense probably benign 0.03
Posted On2013-11-11