Incidental Mutation 'IGL02217:Olfr1344'
ID284957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1344
Ensembl Gene ENSMUSG00000090824
Gene Nameolfactory receptor 1344
Synonyms4930415J05Rik, GA_x6K02T2QGBW-3169916-3170881, MOR124-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL02217
Quality Score
Status
Chromosome7
Chromosomal Location6438688-6442161 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 6440245 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 115 (I115N)
Ref Sequence ENSEMBL: ENSMUSP00000151666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054781] [ENSMUST00000168341] [ENSMUST00000218906]
Predicted Effect probably benign
Transcript: ENSMUST00000054781
SMART Domains Protein: ENSMUSP00000050428
Gene: ENSMUSG00000045929

DomainStartEndE-ValueType
low complexity region 57 74 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168341
AA Change: I115N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130328
Gene: ENSMUSG00000090824
AA Change: I115N

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 3e-49 PFAM
Pfam:7TM_GPCR_Srsx 37 224 1.9e-7 PFAM
Pfam:7tm_1 43 295 1.5e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000218906
AA Change: I115N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,470,898 probably benign Het
Actn1 G A 12: 80,174,094 Q647* probably null Het
Adamts6 T A 13: 104,462,365 probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cabin1 G A 10: 75,700,047 T1389I possibly damaging Het
Cenpc1 A G 5: 86,029,200 probably benign Het
Clca4a T A 3: 144,961,996 T405S possibly damaging Het
Cntln G A 4: 85,100,258 V1168M probably damaging Het
Col18a1 A G 10: 77,053,298 S1494P probably damaging Het
Cps1 A T 1: 67,174,382 T758S probably benign Het
Cul3 A T 1: 80,283,767 M247K probably damaging Het
Cyp3a57 A G 5: 145,369,143 probably null Het
Dennd4c T A 4: 86,813,799 C917S probably benign Het
Dhrs11 A T 11: 84,822,395 Y166* probably null Het
Dtl A G 1: 191,568,314 V146A probably damaging Het
Exosc9 A G 3: 36,552,744 E20G probably damaging Het
Fer A G 17: 64,138,965 K437R probably benign Het
Fkbp6 A T 5: 135,337,630 V284E probably benign Het
Foxq1 A T 13: 31,559,169 S85C probably damaging Het
Galnt12 T A 4: 47,113,832 S83R probably damaging Het
Gm5244 A T 19: 12,846,863 noncoding transcript Het
Gm765 T A 6: 98,248,072 E83D possibly damaging Het
Gm884 T C 11: 103,612,871 probably benign Het
Gpr156 A G 16: 38,005,311 D630G probably benign Het
Hace1 A T 10: 45,590,375 probably null Het
Hemgn G T 4: 46,396,420 T272K probably damaging Het
Ifi213 T G 1: 173,595,032 E89A possibly damaging Het
Jarid2 A G 13: 44,913,201 E954G probably damaging Het
Kcnu1 A G 8: 25,858,184 D126G probably damaging Het
Lbh A T 17: 72,921,252 I31F possibly damaging Het
Muc6 T C 7: 141,649,624 E490G probably damaging Het
Ncoa3 T C 2: 166,055,346 S686P probably damaging Het
Nme4 A G 17: 26,093,860 M108T probably damaging Het
Nod1 A C 6: 54,943,419 V638G possibly damaging Het
Nrip2 A G 6: 128,406,539 N70S probably damaging Het
Olfr1111 A G 2: 87,149,887 M258T probably benign Het
Pitrm1 G A 13: 6,567,341 probably benign Het
Proser1 A G 3: 53,471,491 K115E probably damaging Het
Ptov1 C T 7: 44,867,476 G70R probably damaging Het
Qtrt1 T G 9: 21,417,389 probably null Het
Rbbp8nl A G 2: 180,278,188 probably benign Het
Rtn3 G A 19: 7,435,084 T794I probably damaging Het
Setd4 A G 16: 93,593,295 L82P probably damaging Het
Shank2 C T 7: 144,285,047 L27F possibly damaging Het
Srpk2 A C 5: 23,545,570 V45G probably damaging Het
Utrn A G 10: 12,751,559 F57S probably damaging Het
Vcan T G 13: 89,703,077 T1255P probably damaging Het
Vmn2r16 A C 5: 109,339,810 H183P probably damaging Het
Wdr48 T C 9: 119,909,535 I286T probably benign Het
Other mutations in Olfr1344
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02689:Olfr1344 APN 7 6440575 missense possibly damaging 0.95
IGL02935:Olfr1344 APN 7 6440754 missense possibly damaging 0.91
R0100:Olfr1344 UTSW 7 6440400 missense probably damaging 1.00
R0100:Olfr1344 UTSW 7 6440400 missense probably damaging 1.00
R0108:Olfr1344 UTSW 7 6440400 missense probably damaging 1.00
R4041:Olfr1344 UTSW 7 6440689 missense probably damaging 1.00
R4247:Olfr1344 UTSW 7 6438902 utr 5 prime probably benign
R5275:Olfr1344 UTSW 7 6440016 missense probably benign 0.01
R5475:Olfr1344 UTSW 7 6440170 missense probably benign 0.21
R6016:Olfr1344 UTSW 7 6440614 missense probably benign
R6048:Olfr1344 UTSW 7 6440355 missense possibly damaging 0.58
R6541:Olfr1344 UTSW 7 6440493 missense probably benign 0.04
X0060:Olfr1344 UTSW 7 6440075 missense probably damaging 1.00
Posted On2015-04-16