Incidental Mutation 'IGL02319:Olfr643'
ID288165
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 #IGL02319
Quality Score
Status
Chromosome7
Chromosomal Location103998800-104137405 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104058933 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 223 (I223T)
Ref Sequence ENSEMBL: ENSMUSP00000150133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074064] [ENSMUST00000138055] [ENSMUST00000217217]
Predicted Effect probably damaging
Transcript: ENSMUST00000074064
AA Change: I223T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073707
Gene: ENSMUSG00000090219
AA Change: I223T

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 damaging
Transcript: ENSMUST00000217217
AA Change: I223T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T C 10: 106,948,750 Y537C probably damaging Het
Ambra1 A G 2: 91,886,920 H854R probably damaging Het
Atf7ip A G 6: 136,593,118 N981S probably benign Het
Atp6v1d A G 12: 78,861,456 S2P probably damaging Het
Cd59a A T 2: 104,114,028 I74F possibly damaging Het
Chek2 T C 5: 110,867,011 Y449H possibly damaging Het
Ctif C T 18: 75,521,873 probably benign Het
Dnaaf3 T C 7: 4,523,947 E403G probably damaging Het
Dock1 T G 7: 134,772,449 V608G possibly damaging Het
Fcf1 T C 12: 84,971,208 probably null Het
Fgf17 T G 14: 70,636,743 Q202P possibly damaging Het
Hnrnpm A T 17: 33,649,950 L501Q probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Klra6 A T 6: 130,025,214 S2R probably damaging Het
Krtap19-9b T A 16: 88,932,114 Y33F unknown Het
Lpcat4 G A 2: 112,243,884 V264M probably damaging Het
Lyzl6 T C 11: 103,635,036 Y86C probably damaging Het
Myo18b T C 5: 112,791,139 K1669E probably damaging Het
Nbea A G 3: 55,985,738 V1558A probably damaging Het
Olfr1458 A G 19: 13,102,662 I214T probably benign Het
Olfr606 G A 7: 103,452,267 C310Y probably benign Het
Olfr911-ps1 T A 9: 38,523,870 I46N probably damaging Het
Pex11b T C 3: 96,643,569 probably benign Het
Rbm5 A T 9: 107,743,865 L689* probably null Het
Rd3 G T 1: 191,983,491 G76C probably null Het
Rgs16 A T 1: 153,742,106 I121F probably damaging Het
Tmem30a A T 9: 79,774,203 M264K probably damaging Het
Traf2 T C 2: 25,536,683 E127G probably damaging Het
Trmt11 A T 10: 30,560,873 D290E probably damaging Het
Wdr35 C A 12: 9,027,480 probably benign Het
Wnk2 A G 13: 49,061,438 S1211P possibly damaging Het
Other mutations in Olfr643
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Olfr643 APN 7 104059416 missense probably damaging 1.00
IGL00958:Olfr643 APN 7 104059413 missense probably benign 0.14
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 On2015-04-16