Incidental Mutation 'IGL03286:Ext2'
ID415725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ext2
Ensembl Gene ENSMUSG00000027198
Gene Nameexostoses (multiple) 2
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03286
Quality Score
Status
Chromosome2
Chromosomal Location93661028-93822568 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 93707272 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 590 (V590M)
Ref Sequence ENSEMBL: ENSMUSP00000028623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028623] [ENSMUST00000125407] [ENSMUST00000144780] [ENSMUST00000184931]
Predicted Effect probably damaging
Transcript: ENSMUST00000028623
AA Change: V590M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028623
Gene: ENSMUSG00000027198
AA Change: V590M

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Pfam:Exostosin 100 380 2.4e-59 PFAM
Pfam:Glyco_transf_64 456 701 1.1e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125407
SMART Domains Protein: ENSMUSP00000120291
Gene: ENSMUSG00000027198

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Pfam:Exostosin 100 380 8.8e-59 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000132429
AA Change: V16M
SMART Domains Protein: ENSMUSP00000123492
Gene: ENSMUSG00000027198
AA Change: V16M

DomainStartEndE-ValueType
Pfam:Glyco_transf_64 1 100 5.7e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139321
Predicted Effect probably benign
Transcript: ENSMUST00000144780
Predicted Effect probably benign
Transcript: ENSMUST00000184931
SMART Domains Protein: ENSMUSP00000138956
Gene: ENSMUSG00000027198

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Pfam:Exostosin 100 380 1.4e-57 PFAM
Pfam:Glyco_transf_64 456 559 9.5e-31 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos lack heparan sulfate, initiate primitive streak formation but fail to form mesoderm, become growth arrested and die around gastrulation. Heterozygotes show various abnormalities in cartilage differentiation; about one-third form one or more exostoses on the ribs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 G A 1: 58,049,384 G110S probably benign Het
Arhgap32 T C 9: 32,259,520 S1548P probably benign Het
Cacna1s A G 1: 136,077,659 D147G probably benign Het
Calcoco2 A G 11: 96,103,272 V116A possibly damaging Het
Chd5 A T 4: 152,385,495 M1842L probably benign Het
Comt T C 16: 18,411,740 D73G probably damaging Het
Ctnna1 A G 18: 35,175,153 I175M probably benign Het
Dnah6 A T 6: 73,083,085 Y2839N probably damaging Het
Dph7 T A 2: 24,966,616 H193Q probably damaging Het
Eif2b5 A G 16: 20,502,262 D258G probably damaging Het
Eml5 T C 12: 98,860,503 D630G probably damaging Het
Fchsd2 T C 7: 101,259,775 probably null Het
Gm13272 A G 4: 88,780,349 Q167R probably benign Het
Gm21834 A G 17: 57,741,927 V98A possibly damaging Het
Grid1 T A 14: 35,520,685 probably benign Het
H2-DMa T A 17: 34,137,109 probably null Het
Ighv5-17 T G 12: 113,859,177 E108A possibly damaging Het
Invs A G 4: 48,382,261 T144A probably benign Het
Ipo9 A G 1: 135,407,078 probably benign Het
Itga4 A T 2: 79,289,362 Y504F probably damaging Het
Krt5 A G 15: 101,707,548 F544S unknown Het
Larp4 A G 15: 99,986,086 Y67C probably damaging Het
Msh2 T C 17: 87,682,667 M261T possibly damaging Het
Nav1 A T 1: 135,454,536 C1367S probably benign Het
Nox4 T A 7: 87,370,141 probably benign Het
Noxa1 A G 2: 25,085,720 probably null Het
Olfr1450 A C 19: 12,954,168 Y193S probably benign Het
Olfr414 A C 1: 174,431,177 I250L probably benign Het
Pde4d T A 13: 109,954,506 probably benign Het
Pdlim2 C T 14: 70,174,476 G36S possibly damaging Het
Plekhm2 A G 4: 141,634,347 S262P possibly damaging Het
Pnpla6 C A 8: 3,531,473 T582K probably damaging Het
Rap1b A T 10: 117,818,575 L120* probably null Het
Rft1 C T 14: 30,661,366 T121I probably benign Het
Scn1a A G 2: 66,277,576 I1613T probably damaging Het
Slc47a2 T G 11: 61,342,467 E79A possibly damaging Het
Slc9a4 A G 1: 40,580,768 I85V probably null Het
Slfn8 A T 11: 83,013,468 F365L probably damaging Het
Smcr8 T A 11: 60,778,027 probably benign Het
Sntb1 T C 15: 55,792,046 D258G possibly damaging Het
Sorbs1 A G 19: 40,344,414 I520T probably damaging Het
Sptbn2 T C 19: 4,747,832 S1896P probably damaging Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stab1 C T 14: 31,159,326 probably benign Het
Tars2 T C 3: 95,754,755 probably benign Het
Tchhl1 C T 3: 93,471,123 A378V probably benign Het
Tet3 A T 6: 83,375,778 F1012Y probably damaging Het
Tuba8 A G 6: 121,222,954 D199G possibly damaging Het
Vmn2r110 T A 17: 20,584,206 T151S possibly damaging Het
Xirp2 T C 2: 67,516,310 I2965T probably damaging Het
Zfp688 T A 7: 127,419,531 M141L probably benign Het
Other mutations in Ext2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Ext2 APN 2 93791073 missense probably benign
IGL01554:Ext2 APN 2 93811949 missense probably damaging 1.00
IGL01768:Ext2 APN 2 93791110 splice site probably benign
IGL02160:Ext2 APN 2 93813584 missense probably benign
IGL02677:Ext2 APN 2 93707245 missense probably damaging 1.00
IGL02939:Ext2 APN 2 93704619 splice site probably null
IGL03013:Ext2 APN 2 93707226 intron probably benign
R0018:Ext2 UTSW 2 93795692 missense probably damaging 1.00
R0526:Ext2 UTSW 2 93806085 missense probably damaging 0.99
R0580:Ext2 UTSW 2 93795725 missense probably benign 0.31
R1383:Ext2 UTSW 2 93806113 missense possibly damaging 0.92
R1538:Ext2 UTSW 2 93707287 missense probably damaging 1.00
R1743:Ext2 UTSW 2 93730225 missense probably damaging 1.00
R1792:Ext2 UTSW 2 93704545 missense probably damaging 1.00
R2874:Ext2 UTSW 2 93739686 missense possibly damaging 0.95
R3122:Ext2 UTSW 2 93813825 missense probably damaging 1.00
R4624:Ext2 UTSW 2 93703200 missense probably benign 0.26
R4653:Ext2 UTSW 2 93696159 missense probably benign 0.22
R4826:Ext2 UTSW 2 93762630 missense probably benign 0.15
R4828:Ext2 UTSW 2 93795767 missense probably benign 0.08
R4936:Ext2 UTSW 2 93813679 nonsense probably null
R5311:Ext2 UTSW 2 93696261 missense probably benign 0.04
R5799:Ext2 UTSW 2 93811972 missense probably benign 0.01
R5850:Ext2 UTSW 2 93813659 missense possibly damaging 0.94
R6230:Ext2 UTSW 2 93762620 missense probably damaging 1.00
R6488:Ext2 UTSW 2 93806085 missense probably damaging 0.99
R7047:Ext2 UTSW 2 93739657 missense probably damaging 0.99
R7173:Ext2 UTSW 2 93813612 missense probably damaging 1.00
Posted On2016-08-02