Incidental Mutation 'R4653:Ext2'
ID 351453
Institutional Source Beutler Lab
Gene Symbol Ext2
Ensembl Gene ENSMUSG00000027198
Gene Name exostosin glycosyltransferase 2
Synonyms
MMRRC Submission 041913-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4653 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 93525978-93652913 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93526504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 711 (S711G)
Ref Sequence ENSEMBL: ENSMUSP00000028623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028623] [ENSMUST00000125407] [ENSMUST00000184931]
AlphaFold P70428
Predicted Effect probably benign
Transcript: ENSMUST00000028623
AA Change: S711G

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028623
Gene: ENSMUSG00000027198
AA Change: S711G

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 noncoding transcript
Transcript: ENSMUST00000139321
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
Meta Mutation Damage Score 0.1136 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (66/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,264 (GRCm39) T351A probably benign Het
3930402G23Rik A T 8: 10,976,075 (GRCm39) noncoding transcript Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Abca4 G T 3: 121,932,230 (GRCm39) E295* probably null Het
Abi3 T C 11: 95,723,637 (GRCm39) I215V probably benign Het
Adhfe1 G T 1: 9,620,803 (GRCm39) probably benign Het
Akr1a1 A G 4: 116,495,156 (GRCm39) probably benign Het
Ank T A 15: 27,590,447 (GRCm39) W344R probably null Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Ccdc39 A G 3: 33,873,955 (GRCm39) probably null Het
Cd180 T A 13: 102,841,416 (GRCm39) L154H probably damaging Het
Cnp A T 11: 100,467,342 (GRCm39) D95V probably benign Het
Cul1 T C 6: 47,461,897 (GRCm39) I20T probably damaging Het
Dnah6 T C 6: 73,050,440 (GRCm39) K3042R possibly damaging Het
Dpy19l1 A C 9: 24,393,350 (GRCm39) S140A possibly damaging Het
Dpys C A 15: 39,656,642 (GRCm39) R475L probably damaging Het
Dync1i2 A G 2: 71,078,199 (GRCm39) N276S probably damaging Het
Fancm A G 12: 65,129,828 (GRCm39) Y223C probably damaging Het
Folh1 C A 7: 86,393,633 (GRCm39) G360* probably null Het
Garin5b T C 7: 4,761,054 (GRCm39) R553G possibly damaging Het
Gcat T C 15: 78,919,487 (GRCm39) S151P probably damaging Het
Gcm2 A T 13: 41,256,317 (GRCm39) D477E probably benign Het
Git1 A G 11: 77,395,869 (GRCm39) N468S possibly damaging Het
Gtf3c1 T C 7: 125,273,272 (GRCm39) I622V probably benign Het
Hsd17b13 G A 5: 104,113,702 (GRCm39) L251F probably damaging Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Llgl1 A G 11: 60,599,477 (GRCm39) D486G possibly damaging Het
Lrrk1 T C 7: 65,922,801 (GRCm39) I1366V probably benign Het
Ly9 G T 1: 171,421,597 (GRCm39) H441Q probably benign Het
Mtcl2 A G 2: 156,882,511 (GRCm39) F514L probably damaging Het
Myo15b G A 11: 115,770,813 (GRCm39) probably null Het
Nomo1 G T 7: 45,711,237 (GRCm39) A639S probably benign Het
P3h2 T C 16: 25,924,027 (GRCm39) D136G probably damaging Het
Pde4dip A T 3: 97,674,654 (GRCm39) D87E probably damaging Het
Pdpk1 A T 17: 24,325,871 (GRCm39) D108E probably benign Het
Pex26 C T 6: 121,167,084 (GRCm39) S231L probably damaging Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Ryr3 T A 2: 112,483,108 (GRCm39) N4213I probably damaging Het
Slc7a14 A G 3: 31,311,831 (GRCm39) V63A probably damaging Het
Sppl2a C T 2: 126,762,233 (GRCm39) probably null Het
Sspo T A 6: 48,455,580 (GRCm39) W3077R probably damaging Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Sv2a T C 3: 96,098,078 (GRCm39) probably null Het
Themis2 A G 4: 132,510,287 (GRCm39) S638P probably benign Het
Trabd A G 15: 88,970,042 (GRCm39) Y346C probably damaging Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Trmt1l G A 1: 151,315,320 (GRCm39) V16I probably benign Het
Ube2b A G 11: 51,886,199 (GRCm39) probably null Het
Usp13 A T 3: 32,892,073 (GRCm39) Q84L probably damaging Het
Vmn1r172 G T 7: 23,359,997 (GRCm39) G294V probably damaging Het
Vmn2r59 A T 7: 41,693,228 (GRCm39) H457Q probably benign Het
Vmn2r63 A G 7: 42,553,114 (GRCm39) I714T possibly damaging Het
Vps8 T C 16: 21,318,960 (GRCm39) Y602H probably damaging Het
Zbp1 G A 2: 173,049,608 (GRCm39) P385S possibly damaging Het
Other mutations in Ext2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Ext2 APN 2 93,621,418 (GRCm39) missense probably benign
IGL01554:Ext2 APN 2 93,642,294 (GRCm39) missense probably damaging 1.00
IGL01768:Ext2 APN 2 93,621,455 (GRCm39) splice site probably benign
IGL02160:Ext2 APN 2 93,643,929 (GRCm39) missense probably benign
IGL02677:Ext2 APN 2 93,537,590 (GRCm39) missense probably damaging 1.00
IGL02939:Ext2 APN 2 93,534,964 (GRCm39) splice site probably null
IGL03013:Ext2 APN 2 93,537,571 (GRCm39) intron probably benign
IGL03286:Ext2 APN 2 93,537,617 (GRCm39) missense probably damaging 1.00
R0018:Ext2 UTSW 2 93,626,037 (GRCm39) missense probably damaging 1.00
R0526:Ext2 UTSW 2 93,636,430 (GRCm39) missense probably damaging 0.99
R0580:Ext2 UTSW 2 93,626,070 (GRCm39) missense probably benign 0.31
R1383:Ext2 UTSW 2 93,636,458 (GRCm39) missense possibly damaging 0.92
R1538:Ext2 UTSW 2 93,537,632 (GRCm39) missense probably damaging 1.00
R1743:Ext2 UTSW 2 93,560,570 (GRCm39) missense probably damaging 1.00
R1792:Ext2 UTSW 2 93,534,890 (GRCm39) missense probably damaging 1.00
R2874:Ext2 UTSW 2 93,570,031 (GRCm39) missense possibly damaging 0.95
R3122:Ext2 UTSW 2 93,644,170 (GRCm39) missense probably damaging 1.00
R4624:Ext2 UTSW 2 93,533,545 (GRCm39) missense probably benign 0.26
R4826:Ext2 UTSW 2 93,592,975 (GRCm39) missense probably benign 0.15
R4828:Ext2 UTSW 2 93,626,112 (GRCm39) missense probably benign 0.08
R4936:Ext2 UTSW 2 93,644,024 (GRCm39) nonsense probably null
R5311:Ext2 UTSW 2 93,526,606 (GRCm39) missense probably benign 0.04
R5799:Ext2 UTSW 2 93,642,317 (GRCm39) missense probably benign 0.01
R5850:Ext2 UTSW 2 93,644,004 (GRCm39) missense possibly damaging 0.94
R6230:Ext2 UTSW 2 93,592,965 (GRCm39) missense probably damaging 1.00
R6488:Ext2 UTSW 2 93,636,430 (GRCm39) missense probably damaging 0.99
R7047:Ext2 UTSW 2 93,570,002 (GRCm39) missense probably damaging 0.99
R7173:Ext2 UTSW 2 93,643,957 (GRCm39) missense probably damaging 1.00
R7391:Ext2 UTSW 2 93,560,612 (GRCm39) missense probably damaging 1.00
R7530:Ext2 UTSW 2 93,491,998 (GRCm39) missense probably benign 0.00
R7545:Ext2 UTSW 2 93,644,108 (GRCm39) missense probably benign
R7939:Ext2 UTSW 2 93,560,601 (GRCm39) missense probably damaging 1.00
R8160:Ext2 UTSW 2 93,644,107 (GRCm39) missense probably benign 0.05
R9072:Ext2 UTSW 2 93,644,144 (GRCm39) missense probably benign 0.28
R9245:Ext2 UTSW 2 93,534,836 (GRCm39) missense probably benign 0.23
R9338:Ext2 UTSW 2 93,526,603 (GRCm39) missense probably damaging 1.00
R9430:Ext2 UTSW 2 93,592,999 (GRCm39) missense possibly damaging 0.84
R9487:Ext2 UTSW 2 93,592,956 (GRCm39) missense probably damaging 1.00
Z1177:Ext2 UTSW 2 93,533,620 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- AGTGAGATGGTGAACTGCAC -3'
(R):5'- TGCAGTCGCTAACCACTTCC -3'

Sequencing Primer
(F):5'- AAGTTGCAGCCTGTCCCTGAG -3'
(R):5'- CTCACAGATCTGAGTGCA -3'
Posted On 2015-10-08