Incidental Mutation 'IGL02597:Olfr714'
ID299884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr714
Ensembl Gene ENSMUSG00000049674
Gene Nameolfactory receptor 714
SynonymsGA_x6K02T2PBJ9-9453401-9454354, P4, MOR263-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL02597
Quality Score
Status
Chromosome7
Chromosomal Location107070981-107077802 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107074439 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 204 (T204S)
Ref Sequence ENSEMBL: ENSMUSP00000151106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054629] [ENSMUST00000214429]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054629
AA Change: T204S

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095742
Gene: ENSMUSG00000049674
AA Change: T204S

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 8.5e-56 PFAM
Pfam:7tm_1 42 291 3.5e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214123
Predicted Effect possibly damaging
Transcript: ENSMUST00000214429
AA Change: T204S

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
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]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal olfactory sensory neuron projections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,623,931 K1648E probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Atp7a A T X: 106,069,888 N34I probably benign Het
Btbd11 A G 10: 85,633,801 Y862C probably damaging Het
Casq2 A G 3: 102,126,637 Y232C probably damaging Het
Cdan1 A T 2: 120,725,239 N738K probably benign Het
Cdh24 A G 14: 54,633,515 V132A possibly damaging Het
Chd5 C A 4: 152,371,712 T946K probably damaging Het
Clip4 T C 17: 71,849,970 probably benign Het
Copz2 T C 11: 96,857,599 probably benign Het
Cyp2c39 C A 19: 39,560,887 S283* probably null Het
Dlec1 A T 9: 119,134,536 S973C probably damaging Het
Far1 A T 7: 113,551,256 T264S probably benign Het
Iqgap1 A G 7: 80,723,885 L1452P probably damaging Het
Irx5 A C 8: 92,360,772 N444T possibly damaging Het
Kcnip2 A G 19: 45,796,273 probably benign Het
Kmt2d A T 15: 98,863,831 M546K unknown Het
Lrrc37a A G 11: 103,504,287 L104S probably benign Het
Med12 T C X: 101,284,932 L1143P probably damaging Het
Mettl11b A G 1: 163,717,087 V109A probably benign Het
Mtcl1 T C 17: 66,338,021 H1477R probably benign Het
Nkap T A X: 37,147,784 probably benign Het
Osbpl6 C T 2: 76,555,974 Q214* probably null Het
Pex1 C T 5: 3,635,865 T1202I possibly damaging Het
Prrc2b A T 2: 32,219,613 N1066I probably damaging Het
Psmg1 T C 16: 95,987,297 E152G probably damaging Het
Scn10a A G 9: 119,610,123 I1560T probably damaging Het
Shd A G 17: 55,973,987 E221G possibly damaging Het
Slc39a4 T C 15: 76,613,624 T478A probably benign Het
Snx2 A G 18: 53,210,372 I281V probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmem161a A T 8: 70,182,043 R297S probably damaging Het
Tns1 A G 1: 73,985,873 probably null Het
Ugt2b36 G A 5: 87,080,924 T420M probably damaging Het
Wdfy4 G A 14: 33,090,861 R1652* probably null Het
Zap70 T A 1: 36,771,920 Y178* probably null Het
Zdhhc3 A G 9: 123,100,391 F60L probably damaging Het
Other mutations in Olfr714
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02230:Olfr714 APN 7 107074493 missense probably damaging 0.98
IGL02562:Olfr714 APN 7 107074562 missense probably benign 0.03
IGL02598:Olfr714 APN 7 107074716 missense possibly damaging 0.64
IGL02981:Olfr714 APN 7 107074551 missense probably damaging 1.00
BB004:Olfr714 UTSW 7 107074289 missense probably benign 0.00
BB014:Olfr714 UTSW 7 107074289 missense probably benign 0.00
R0064:Olfr714 UTSW 7 107074280 missense probably benign 0.02
R0064:Olfr714 UTSW 7 107074280 missense probably benign 0.02
R0518:Olfr714 UTSW 7 107074758 missense possibly damaging 0.81
R0521:Olfr714 UTSW 7 107074758 missense possibly damaging 0.81
R1661:Olfr714 UTSW 7 107074274 missense probably damaging 1.00
R1665:Olfr714 UTSW 7 107074274 missense probably damaging 1.00
R2069:Olfr714 UTSW 7 107074619 nonsense probably null
R2202:Olfr714 UTSW 7 107074316 missense probably damaging 1.00
R3884:Olfr714 UTSW 7 107073903 missense possibly damaging 0.72
R4362:Olfr714 UTSW 7 107074592 missense probably damaging 0.99
R4618:Olfr714 UTSW 7 107074554 missense probably damaging 1.00
R5375:Olfr714 UTSW 7 107073873 missense probably benign 0.05
R5654:Olfr714 UTSW 7 107074187 missense probably damaging 1.00
R6228:Olfr714 UTSW 7 107074136 missense probably damaging 1.00
R7196:Olfr714 UTSW 7 107074728 missense probably benign 0.01
R7202:Olfr714 UTSW 7 107074241 missense probably benign 0.01
R7232:Olfr714 UTSW 7 107073855 missense probably benign 0.03
R7927:Olfr714 UTSW 7 107074289 missense probably benign 0.00
Z1088:Olfr714 UTSW 7 107074405 missense possibly damaging 0.84
Posted On2015-04-16