Incidental Mutation 'IGL00309:Olfr1019'
ID7130
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1019
Ensembl Gene ENSMUSG00000075208
Gene Nameolfactory receptor 1019
SynonymsMOR180-1, GA_x6K02T2Q125-47320309-47319377
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock #IGL00309
Quality Score
Status
Chromosome2
Chromosomal Location85839621-85845483 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85841362 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 143 (V143D)
Ref Sequence ENSEMBL: ENSMUSP00000150622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102634] [ENSMUST00000213515]
Predicted Effect probably benign
Transcript: ENSMUST00000102634
AA Change: V143D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000099694
Gene: ENSMUSG00000075208
AA Change: V143D

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.7e-55 PFAM
Pfam:7TM_GPCR_Srsx 35 237 1.6e-6 PFAM
Pfam:7tm_1 41 290 1.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213515
AA Change: V143D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,532,666 probably benign Het
Abca9 T A 11: 110,160,516 D118V probably benign Het
Adgrb2 T A 4: 130,018,805 I1241N probably damaging Het
Arsb A G 13: 93,790,100 D126G probably benign Het
BB014433 G T 8: 15,042,510 N114K probably benign Het
Ccne2 T A 4: 11,199,322 V241E probably benign Het
Ccnjl A T 11: 43,583,196 K199N probably benign Het
Cyp2c55 A G 19: 39,011,746 T130A probably benign Het
Cyp2c70 A T 19: 40,156,826 N395K probably benign Het
Dst T C 1: 34,160,652 V67A probably damaging Het
Dysf G A 6: 84,108,099 R806H probably damaging Het
Extl3 G A 14: 65,076,989 P248L probably benign Het
Fcgbp A G 7: 28,085,130 D205G probably damaging Het
Gga1 G T 15: 78,883,355 V98L possibly damaging Het
Gpr6 C T 10: 41,070,816 A257T probably damaging Het
Mex3c C T 18: 73,589,889 T351M probably damaging Het
Olfr1513 A G 14: 52,349,710 V112A probably benign Het
Olfr154 A T 2: 85,664,356 V26D probably benign Het
Olfr961 T A 9: 39,647,340 S205T probably benign Het
Prex1 A G 2: 166,609,823 Y412H probably damaging Het
Slc25a25 A T 2: 32,419,160 V75E probably benign Het
Sv2c A G 13: 96,048,429 C247R probably damaging Het
Trpm5 A T 7: 143,082,991 V403E probably benign Het
Wdr17 A G 8: 54,687,711 V202A probably damaging Het
Zscan25 A G 5: 145,283,749 E118G probably damaging Het
Other mutations in Olfr1019
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02734:Olfr1019 APN 2 85841539 missense possibly damaging 0.88
IGL03030:Olfr1019 APN 2 85841072 missense probably damaging 1.00
IGL03207:Olfr1019 APN 2 85840973 missense probably benign 0.14
IGL03215:Olfr1019 APN 2 85841381 missense probably damaging 1.00
IGL03220:Olfr1019 APN 2 85840982 missense possibly damaging 0.87
R0441:Olfr1019 UTSW 2 85841515 missense probably damaging 1.00
R4013:Olfr1019 UTSW 2 85841381 missense probably damaging 1.00
R4604:Olfr1019 UTSW 2 85841182 missense probably damaging 0.99
R5307:Olfr1019 UTSW 2 85841014 missense probably damaging 1.00
R5754:Olfr1019 UTSW 2 85841312 missense probably damaging 1.00
R6010:Olfr1019 UTSW 2 85841561 missense probably benign 0.16
R6062:Olfr1019 UTSW 2 85841114 missense probably benign
R6103:Olfr1019 UTSW 2 85841432 missense probably damaging 1.00
R6443:Olfr1019 UTSW 2 85841635 missense probably damaging 0.99
R7442:Olfr1019 UTSW 2 85841752 missense probably benign 0.04
R7490:Olfr1019 UTSW 2 85840963 missense probably damaging 1.00
R7524:Olfr1019 UTSW 2 85841357 missense probably benign
R7605:Olfr1019 UTSW 2 85841039 missense probably benign 0.34
R7615:Olfr1019 UTSW 2 85841657 missense probably benign 0.02
Posted On2012-04-20