Incidental Mutation 'IGL00958:Olfr643'
ID27880
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr643
Ensembl Gene ENSMUSG00000109824
Gene Nameolfactory receptor 643
SynonymsMOR13-2, GA_x6K02T2PBJ9-6793628-6792684
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00958
Quality Score
Status
Chromosome7
Chromosomal Location103998800-104137405 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104059413 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 63 (Y63C)
Ref Sequence ENSEMBL: ENSMUSP00000150133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074064] [ENSMUST00000138055] [ENSMUST00000217217]
Predicted Effect probably benign
Transcript: ENSMUST00000074064
AA Change: Y63C

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000073707
Gene: ENSMUSG00000090219
AA Change: Y63C

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2.6e-124 PFAM
Pfam:7TM_GPCR_Srsx 37 255 3.1e-7 PFAM
Pfam:7tm_1 43 294 3.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217217
AA Change: Y63C

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
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
9330159F19Rik G T 10: 29,227,328 R635M probably benign Het
Arhgef19 T C 4: 141,248,983 probably benign Het
Cd101 T C 3: 101,003,702 D880G probably damaging Het
Cdk5rap3 T C 11: 96,909,967 N348D probably benign Het
Cep295nl G A 11: 118,333,904 T38I probably damaging Het
Col3a1 T G 1: 45,327,595 S232A unknown Het
Ddx1 T C 12: 13,240,848 probably null Het
Gckr A T 5: 31,298,785 probably null Het
Gm5800 A G 14: 51,713,812 L110P possibly damaging Het
Hist3h2a G T 11: 58,954,940 G68V probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Mfap3l A G 8: 60,671,482 I253V probably benign Het
Olfr1290 A G 2: 111,489,220 *313Q probably null Het
Olfr1491 G A 19: 13,705,732 V302I probably benign Het
Olfr338 A G 2: 36,376,916 I47V probably damaging Het
Olfr61 T A 7: 140,638,256 L185H probably damaging Het
Olfr918 A G 9: 38,673,024 V153A probably benign Het
Pias3 C T 3: 96,699,422 probably benign Het
Ppox A G 1: 171,277,880 probably null Het
Raet1d A G 10: 22,370,892 T40A possibly damaging Het
Rcan2 G A 17: 44,037,017 V206I probably damaging Het
Slc8b1 T C 5: 120,532,984 L545P probably damaging Het
Tmem145 T G 7: 25,307,357 probably null Het
Trib2 T C 12: 15,793,633 E336G possibly damaging Het
Ttc37 T C 13: 76,122,745 Y288H probably damaging Het
Other mutations in Olfr643
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Olfr643 APN 7 104059416 missense probably damaging 1.00
IGL02319:Olfr643 APN 7 104058933 missense probably damaging 1.00
IGL03184:Olfr643 APN 7 104058847 missense probably damaging 0.97
R0254:Olfr643 UTSW 7 104059521 missense probably benign 0.00
R0850:Olfr643 UTSW 7 104059045 missense probably benign
R1443:Olfr643 UTSW 7 104058723 missense probably damaging 1.00
R1544:Olfr643 UTSW 7 104059224 missense probably damaging 0.99
R1669:Olfr643 UTSW 7 104059309 missense probably benign 0.32
R1990:Olfr643 UTSW 7 104059128 missense possibly damaging 0.96
R2207:Olfr643 UTSW 7 104059405 missense probably damaging 1.00
R4456:Olfr643 UTSW 7 104059300 missense possibly damaging 0.70
R4719:Olfr643 UTSW 7 104058733 missense probably damaging 1.00
R5519:Olfr643 UTSW 7 104059297 nonsense probably null
Z1088:Olfr643 UTSW 7 104059316 missense possibly damaging 0.80
Posted On2013-04-17