Incidental Mutation 'IGL00965:Olfr1564'
ID306607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1564
Ensembl Gene ENSMUSG00000096169
Gene Nameolfactory receptor 1564
SynonymsGm4461
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.281) question?
Stock #IGL00965
Quality Score
Status
Chromosome17
Chromosomal Location33211206-33221690 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 33215973 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 124 (V124M)
Ref Sequence ENSEMBL: ENSMUSP00000150573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112162] [ENSMUST00000208645] [ENSMUST00000213642] [ENSMUST00000213751] [ENSMUST00000215450]
Predicted Effect probably benign
Transcript: ENSMUST00000112162
AA Change: V127M

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127247
Gene: ENSMUSG00000096169
AA Change: V127M

DomainStartEndE-ValueType
Pfam:7tm_4 34 312 3.3e-53 PFAM
Pfam:7TM_GPCR_Srsx 38 263 1.5e-5 PFAM
Pfam:7tm_1 44 297 5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208645
AA Change: V124M

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000213642
AA Change: V124M

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000213751
AA Change: V124M

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000215450
AA Change: V124M

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
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, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 C T 2: 164,804,815 M1I probably null Het
Adam33 T C 2: 131,054,263 probably benign Het
Adgrl1 C T 8: 83,937,703 T1236I probably damaging Het
Ago4 A G 4: 126,493,314 V832A probably benign Het
Ankrd26 G T 6: 118,559,358 Y91* probably null Het
Atp9a C A 2: 168,640,680 V845L probably benign Het
Cfap100 C T 6: 90,415,805 E108K probably benign Het
Chrdl2 T A 7: 100,006,653 probably null Het
Erbb4 A T 1: 68,071,630 L1008* probably null Het
Fam92b T C 8: 120,166,690 Q254R probably benign Het
Gm42688 C T 6: 83,103,392 probably benign Het
H2-Eb2 T A 17: 34,325,797 probably null Het
Hmcn2 T C 2: 31,343,096 V219A probably damaging Het
Hsf2 C T 10: 57,512,100 P447S probably damaging Het
Hsph1 A T 5: 149,630,804 I162N probably damaging Het
Ick A G 9: 78,164,539 I498V probably benign Het
Il12rb2 T C 6: 67,360,577 T107A probably damaging Het
Lnx1 T A 5: 74,685,717 N24I probably benign Het
Mgat3 C A 15: 80,212,433 A487D probably damaging Het
Olfr1416 T C 1: 92,480,024 D199G probably damaging Het
Olfr629 T A 7: 103,740,965 I92F probably benign Het
Olfr808 T A 10: 129,767,586 L30Q probably null Het
Ppargc1b A G 18: 61,323,164 Y75H probably damaging Het
Rgl2 G T 17: 33,935,936 C638F probably benign Het
Rhpn1 C A 15: 75,711,886 R407S probably damaging Het
Sipa1l2 A G 8: 125,447,874 S1222P probably benign Het
Tango6 T A 8: 106,742,010 probably benign Het
Tonsl G A 15: 76,631,880 probably benign Het
Vmn1r77 G A 7: 12,041,296 probably null Het
Vmn2r13 A C 5: 109,156,098 F822L probably damaging Het
Other mutations in Olfr1564
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0079:Olfr1564 UTSW 17 33216105 missense probably benign 0.14
R0939:Olfr1564 UTSW 17 33215661 missense possibly damaging 0.72
R1279:Olfr1564 UTSW 17 33216326 missense possibly damaging 0.59
R2167:Olfr1564 UTSW 17 33215568 missense probably damaging 0.97
R2866:Olfr1564 UTSW 17 33216278 missense probably benign 0.22
R4738:Olfr1564 UTSW 17 33215810 missense probably benign 0.03
R4976:Olfr1564 UTSW 17 33215754 missense probably benign 0.35
R6452:Olfr1564 UTSW 17 33215945 missense probably benign 0.03
R6721:Olfr1564 UTSW 17 33215534 missense probably benign
R7322:Olfr1564 UTSW 17 33215699 missense probably damaging 1.00
R8032:Olfr1564 UTSW 17 33215950 missense possibly damaging 0.85
Posted On2015-04-16