Incidental Mutation 'R7545:Ext2'
ID 584137
Institutional Source Beutler Lab
Gene Symbol Ext2
Ensembl Gene ENSMUSG00000027198
Gene Name exostosin glycosyltransferase 2
Synonyms
MMRRC Submission 045650-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7545 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 93525978-93652913 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 93644108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 58 (V58L)
Ref Sequence ENSEMBL: ENSMUSP00000028623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028623] [ENSMUST00000111248] [ENSMUST00000125407] [ENSMUST00000145838] [ENSMUST00000184931]
AlphaFold P70428
Predicted Effect probably benign
Transcript: ENSMUST00000028623
AA Change: V58L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028623
Gene: ENSMUSG00000027198
AA Change: V58L

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: ENSMUST00000111248
AA Change: V58L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106879
Gene: ENSMUSG00000027198
AA Change: V58L

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125407
AA Change: V58L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120291
Gene: ENSMUSG00000027198
AA Change: V58L

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Pfam:Exostosin 100 380 8.8e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145838
AA Change: V58L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122144
Gene: ENSMUSG00000027198
AA Change: V58L

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Pfam:Exostosin 100 213 2.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184931
AA Change: V58L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138956
Gene: ENSMUSG00000027198
AA Change: V58L

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,696,040 (GRCm39) Y159H probably damaging Het
A1cf A T 19: 31,912,190 (GRCm39) N435I possibly damaging Het
Aasdh A T 5: 77,027,861 (GRCm39) F849I probably damaging Het
Aatf A T 11: 84,361,502 (GRCm39) M367K probably benign Het
Acnat1 A T 4: 49,449,142 (GRCm39) L208* probably null Het
Adam26b C T 8: 43,974,750 (GRCm39) G84D probably damaging Het
Adamtsl1 A T 4: 85,683,092 (GRCm39) E54D probably damaging Het
Ang6 T G 14: 44,239,636 (GRCm39) I31L probably benign Het
Asic4 A G 1: 75,449,060 (GRCm39) N403S probably damaging Het
Bicd1 G A 6: 149,414,990 (GRCm39) V568M probably benign Het
Ccdc192 A G 18: 57,863,895 (GRCm39) E233G probably damaging Het
Cfap45 A T 1: 172,366,163 (GRCm39) M339L probably benign Het
Cnga4 A G 7: 105,056,286 (GRCm39) D399G probably damaging Het
Csnk1g3 C T 18: 54,028,897 (GRCm39) R17W probably damaging Het
Dnah11 A G 12: 117,894,939 (GRCm39) F3636S probably damaging Het
Dscaml1 A T 9: 45,596,681 (GRCm39) T842S probably benign Het
Ets2 C A 16: 95,516,127 (GRCm39) Q236K probably benign Het
Fam135b T C 15: 71,322,359 (GRCm39) K1269E possibly damaging Het
Fech A G 18: 64,597,185 (GRCm39) L258P probably damaging Het
Gls A G 1: 52,230,311 (GRCm39) S467P probably damaging Het
Gm19410 T A 8: 36,269,779 (GRCm39) D1141E probably damaging Het
Gm45861 T G 8: 28,071,032 (GRCm39) M1246R unknown Het
Gm6902 T A 7: 22,973,087 (GRCm39) I147L probably benign Het
Itga7 G T 10: 128,769,775 (GRCm39) probably benign Het
Itpripl1 A T 2: 126,983,581 (GRCm39) C180* probably null Het
Klhl33 C A 14: 51,130,631 (GRCm39) V28F probably damaging Het
Kmo A T 1: 175,481,194 (GRCm39) D304V probably damaging Het
Mier2 T C 10: 79,377,028 (GRCm39) N537S possibly damaging Het
Mroh9 A G 1: 162,902,277 (GRCm39) I112T possibly damaging Het
Mterf1a T A 5: 3,940,995 (GRCm39) E291V probably damaging Het
Muc5ac T A 7: 141,362,405 (GRCm39) N1905K unknown Het
Myt1l G A 12: 29,877,087 (GRCm39) R246Q unknown Het
Nav2 A G 7: 49,232,605 (GRCm39) E1854G probably damaging Het
Nelfcd A G 2: 174,265,771 (GRCm39) probably null Het
Nf1 T A 11: 79,300,350 (GRCm39) D287E probably benign Het
Nfyc T C 4: 120,630,966 (GRCm39) probably null Het
Obscn A T 11: 58,929,725 (GRCm39) D5163E probably damaging Het
Or10d4c C T 9: 39,558,403 (GRCm39) P127L probably damaging Het
Or8g28 T A 9: 39,169,984 (GRCm39) probably null Het
Plppr1 A T 4: 49,320,002 (GRCm39) L209F possibly damaging Het
Pmm1 T C 15: 81,835,803 (GRCm39) D226G probably damaging Het
Polr1b T A 2: 128,959,766 (GRCm39) probably null Het
Ppp2r5a A G 1: 191,104,806 (GRCm39) V80A probably benign Het
Pramel17 T A 4: 101,695,159 (GRCm39) I51L probably benign Het
Psrc1 A G 3: 108,293,759 (GRCm39) probably null Het
Ralbp1 T C 17: 66,174,593 (GRCm39) T60A probably benign Het
Rasal2 A T 1: 157,020,339 (GRCm39) S217T possibly damaging Het
Rnase12 A G 14: 51,294,395 (GRCm39) F95L probably damaging Het
Rnf152 A T 1: 105,211,957 (GRCm39) I200K probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,134 (GRCm39) probably benign Het
Ryk C T 9: 102,765,672 (GRCm39) T327I probably damaging Het
Sell A T 1: 163,892,903 (GRCm39) T40S probably benign Het
Slc15a2 G A 16: 36,595,964 (GRCm39) H153Y probably damaging Het
Slit3 A G 11: 35,591,139 (GRCm39) D1317G possibly damaging Het
Slx4 G A 16: 3,817,164 (GRCm39) T19M probably benign Het
Spata31 C T 13: 65,070,359 (GRCm39) R836* probably null Het
Specc1l T C 10: 75,080,921 (GRCm39) S106P probably benign Het
Speer1a C A 5: 11,394,884 (GRCm39) Q124K possibly damaging Het
Stc2 T C 11: 31,317,799 (GRCm39) N74S probably damaging Het
Strn3 A T 12: 51,674,543 (GRCm39) S498T probably damaging Het
Sva C T 6: 42,019,148 (GRCm39) T106I probably benign Het
Tle3 T A 9: 61,301,984 (GRCm39) L131Q possibly damaging Het
Tmem135 T A 7: 88,954,727 (GRCm39) R97W probably damaging Het
Tmx4 A G 2: 134,451,425 (GRCm39) L176S possibly damaging Het
Tomm20l C A 12: 71,164,171 (GRCm39) probably null Het
Topors A T 4: 40,262,173 (GRCm39) F370L possibly damaging Het
Ulk4 T C 9: 120,970,904 (GRCm39) T1023A probably benign Het
Unc13a C T 8: 72,094,153 (GRCm39) probably null Het
Urb2 T C 8: 124,756,491 (GRCm39) S733P probably benign Het
Vwf A G 6: 125,591,060 (GRCm39) D750G Het
Xylt1 G A 7: 117,192,812 (GRCm39) D373N probably benign 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
R4653:Ext2 UTSW 2 93,526,504 (GRCm39) missense probably benign 0.22
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
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'- GCAGTTCATTGTACTCCCGG -3'
(R):5'- ATGTGTGCGTCAGTCAAGTCC -3'

Sequencing Primer
(F):5'- CATTGTACTCCCGGGAGATG -3'
(R):5'- GTGCGTCAGTCAAGTCCAACATC -3'
Posted On 2019-10-17