Mutagenetix > Incidental Mutation

Incidental Mutation 'R1792:Ext2'

201807

Institutional Source

Beutler Lab

Gene Symbol

Ext2

Ensembl Gene

ENSMUSG00000027198

Gene Name

exostosin glycosyltransferase 2

Synonyms

MMRRC Submission

039822-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93525978-93652913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93534890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 625 (N625D)

Ref Sequence

ENSEMBL: ENSMUSP00000028623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028623] [ENSMUST00000125407] [ENSMUST00000144780] [ENSMUST00000184931]

AlphaFold

P70428

Predicted Effect

probably damaging
Transcript: ENSMUST00000028623
AA Change: N625D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028623
Gene: ENSMUSG00000027198
AA Change: N625D

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
Pfam:Exostosin	100	380	8.8e-59	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000132429
AA Change: N51D

SMART Domains

Protein: ENSMUSP00000123492
Gene: ENSMUSG00000027198
AA Change: N51D

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	C	T	11: 110,074,870 (GRCm39)	V1398I	probably benign	Het
Ackr3	A	T	1: 90,142,620 (GRCm39)	N360Y	probably benign	Het
Acr	T	G	15: 89,457,346 (GRCm39)	M198R	probably benign	Het
Adamts14	A	T	10: 61,054,277 (GRCm39)	M585K	probably benign	Het
Adgrb3	A	T	1: 25,267,552 (GRCm39)	C853S	probably damaging	Het
Arhgef28	G	T	13: 98,067,694 (GRCm39)	S1410R	probably benign	Het
Asprv1	T	A	6: 86,605,354 (GRCm39)	F67I	possibly damaging	Het
Atp8b4	T	A	2: 126,167,214 (GRCm39)	Y1095F	probably benign	Het
Cadps	A	G	14: 12,449,802 (GRCm38)	S1136P	possibly damaging	Het
Ccdc57	T	C	11: 120,788,707 (GRCm39)	Q380R	possibly damaging	Het
Cdc45	A	T	16: 18,626,090 (GRCm39)	D142E	probably benign	Het
Cs	A	T	10: 128,195,948 (GRCm39)	N386Y	possibly damaging	Het
Dsc3	A	T	18: 20,120,055 (GRCm39)	V201E	probably damaging	Het
Dusp26	G	T	8: 31,581,963 (GRCm39)	R19L	probably benign	Het
Esyt3	C	A	9: 99,240,169 (GRCm39)	E92*	probably null	Het
Flvcr2	A	T	12: 85,793,929 (GRCm39)	K102*	probably null	Het
Fmnl2	T	A	2: 52,932,329 (GRCm39)	S103T	possibly damaging	Het
Fmo4	T	A	1: 162,621,859 (GRCm39)	I451F	probably benign	Het
Gak	A	T	5: 108,733,397 (GRCm39)	Y47*	probably null	Het
Gbp10	A	T	5: 105,372,166 (GRCm39)	L198Q	probably damaging	Het
Gm11559	T	A	11: 99,755,755 (GRCm39)	S135T	unknown	Het
Gm14496	A	T	2: 181,637,946 (GRCm39)	D340V	probably benign	Het
Grin2a	T	C	16: 9,810,259 (GRCm39)	T47A	possibly damaging	Het
Gtf2ird1	A	T	5: 134,395,790 (GRCm39)		probably null	Het
Herc4	T	A	10: 63,081,680 (GRCm39)	M1K	probably null	Het
Hirip3	T	A	7: 126,461,792 (GRCm39)	V29E	probably damaging	Het
Hs3st5	A	G	10: 36,708,720 (GRCm39)	D85G	probably benign	Het
Htt	T	A	5: 35,064,543 (GRCm39)	S2981T	probably damaging	Het
Iho1	A	C	9: 108,282,111 (GRCm39)	S526A	possibly damaging	Het
Il20ra	G	A	10: 19,635,384 (GRCm39)	V542I	probably damaging	Het
Itgb2l	C	A	16: 96,226,282 (GRCm39)	C603F	probably damaging	Het
Klhl41	A	C	2: 69,501,146 (GRCm39)	K202N	probably benign	Het
Lct	G	A	1: 128,255,679 (GRCm39)	S121F	possibly damaging	Het
Lhx6	C	T	2: 35,977,387 (GRCm39)	G355D	probably damaging	Het
Limk2	A	G	11: 3,308,236 (GRCm39)	V121A	probably benign	Het
Med1	T	G	11: 98,048,109 (GRCm39)	K896Q	probably damaging	Het
Muc6	A	G	7: 141,214,371 (GRCm39)	F2789S	probably benign	Het
Nemf	T	A	12: 69,359,343 (GRCm39)	Y997F	probably damaging	Het
Nrap	A	G	19: 56,367,590 (GRCm39)	S296P	probably benign	Het
Nrxn1	T	C	17: 90,896,252 (GRCm39)	N961D	probably damaging	Het
Odad2	T	C	18: 7,286,743 (GRCm39)	T163A	probably benign	Het
Or1r1	A	C	11: 73,874,673 (GRCm39)	S254A	probably benign	Het
Or6c207	A	T	10: 129,105,112 (GRCm39)	F27I	probably benign	Het
Or6y1	T	C	1: 174,276,303 (GRCm39)	V38A	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdk4	T	A	6: 5,489,166 (GRCm39)	H247L	probably damaging	Het
Pkd1l3	T	A	8: 110,359,237 (GRCm39)	V866E	probably damaging	Het
Pla2g4e	G	A	2: 119,998,955 (GRCm39)	P803L	probably damaging	Het
Pnisr	T	C	4: 21,860,968 (GRCm39)	V217A	possibly damaging	Het
Pole4	G	A	6: 82,629,720 (GRCm39)	P34L	unknown	Het
Pole4	G	T	6: 82,629,721 (GRCm39)	P34T	unknown	Het
Ptchd3	G	A	11: 121,732,377 (GRCm39)	W422*	probably null	Het
Rab1b	C	T	19: 5,150,513 (GRCm39)	A167T	probably benign	Het
Rasal1	T	C	5: 120,802,821 (GRCm39)	M359T	probably benign	Het
Rexo4	T	C	2: 26,850,248 (GRCm39)	N310D	probably benign	Het
Rgma	C	T	7: 73,067,585 (GRCm39)	T280M	probably damaging	Het
Rnaset2a	A	T	17: 8,364,408 (GRCm39)	I43N	probably damaging	Het
Rtcb	A	T	10: 85,778,446 (GRCm39)	V399E	probably damaging	Het
Scd4	T	G	19: 44,326,013 (GRCm39)	Y122*	probably null	Het
Sirt6	T	C	10: 81,462,355 (GRCm39)	I15V	possibly damaging	Het
Slamf8	A	T	1: 172,415,526 (GRCm39)	V104E	possibly damaging	Het
Slc12a4	A	G	8: 106,678,475 (GRCm39)	I285T	possibly damaging	Het
Slc25a13	G	A	6: 6,115,104 (GRCm39)	A207V	possibly damaging	Het
Slc6a21	T	C	7: 44,930,155 (GRCm39)	S185P	probably benign	Het
Smarcc2	A	C	10: 128,299,740 (GRCm39)	N135T	probably damaging	Het
Susd6	T	C	12: 80,921,065 (GRCm39)	S221P	probably damaging	Het
Syne1	C	T	10: 4,990,975 (GRCm39)	G8418D	probably damaging	Het
Tasor2	T	C	13: 3,640,559 (GRCm39)	K193E	possibly damaging	Het
Tbc1d7	C	T	13: 43,318,853 (GRCm39)	V95I	probably benign	Het
Tcerg1l	T	C	7: 137,963,595 (GRCm39)	D225G	probably benign	Het
Tfip11	A	T	5: 112,477,263 (GRCm39)	I82F	possibly damaging	Het
Tmem41a	C	T	16: 21,755,731 (GRCm39)	G192S	probably null	Het
Trrap	G	A	5: 144,790,396 (GRCm39)	A3619T	possibly damaging	Het
Tspoap1	G	A	11: 87,656,707 (GRCm39)		probably null	Het
Wfdc21	T	C	11: 83,637,883 (GRCm39)	S11P	probably benign	Het
Zc2hc1b	A	T	10: 13,044,474 (GRCm39)	V63E	probably damaging	Het

Other mutations in Ext2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AAACCAAGGATCATGGCAATTGC -3'
(R):5'- CTGTGAGCCATCATACCAGC -3'

Sequencing Primer
(F):5'- TGGCAATTGCACAACCATTCG -3'
(R):5'- CAGCCCATTTTAAAGGCTCTGGG -3'

Posted On

2014-06-23