Mutagenetix > Incidental Mutation

Incidental Mutation 'R0526:Ext2'

48894

Institutional Source

Beutler Lab

Gene Symbol

Ext2

Ensembl Gene

ENSMUSG00000027198

Gene Name

exostosin glycosyltransferase 2

Synonyms

MMRRC Submission

038719-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0526 (G1)

Quality Score

128

Status

Not validated

Chromosome

Chromosomal Location

93525978-93652913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93636430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 228 (V228A)

Ref Sequence

ENSEMBL: ENSMUSP00000138956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028623] [ENSMUST00000125407] [ENSMUST00000145838] [ENSMUST00000184931]

AlphaFold

P70428

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028623
AA Change: V228A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028623
Gene: ENSMUSG00000027198
AA Change: V228A

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

noncoding transcript
Transcript: ENSMUST00000123649

Predicted Effect

probably damaging
Transcript: ENSMUST00000125407
AA Change: V228A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120291
Gene: ENSMUSG00000027198
AA Change: V228A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145838

SMART Domains

Protein: ENSMUSP00000122144
Gene: ENSMUSG00000027198

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
Pfam:Exostosin	100	213	2.5e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000184931
AA Change: V228A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138956
Gene: ENSMUSG00000027198
AA Change: V228A

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,182,535 (GRCm39)	N230I	possibly damaging	Het
4933427D14Rik	G	T	11: 72,060,609 (GRCm39)	Q687K	probably damaging	Het
Actrt2	A	G	4: 154,751,869 (GRCm39)	L89P	probably damaging	Het
Adamts1	A	C	16: 85,599,260 (GRCm39)	S113R	probably benign	Het
Agxt2	G	T	15: 10,373,948 (GRCm39)	C118F	probably damaging	Het
Akap8	G	A	17: 32,536,266 (GRCm39)	T49I	probably benign	Het
Alk	A	T	17: 72,176,748 (GRCm39)	W1519R	probably damaging	Het
Atf7ip	T	A	6: 136,536,803 (GRCm39)	F12Y	probably damaging	Het
Atp13a5	A	G	16: 29,167,558 (GRCm39)	C131R	probably damaging	Het
Atp8b4	A	G	2: 126,269,283 (GRCm39)	L168P	probably damaging	Het
Blm	G	T	7: 80,155,641 (GRCm39)	S346*	probably null	Het
Ccnt2	T	G	1: 127,727,182 (GRCm39)	C199G	probably damaging	Het
Cd151	A	T	7: 141,050,504 (GRCm39)	H219L	probably damaging	Het
Cd200r2	A	T	16: 44,735,410 (GRCm39)	R248S	probably damaging	Het
Cdh3	A	G	8: 107,282,078 (GRCm39)	D822G	possibly damaging	Het
Clec4b1	T	C	6: 123,046,729 (GRCm39)		probably null	Het
Cluh	C	A	11: 74,556,812 (GRCm39)	L951I	probably benign	Het
Cog7	A	T	7: 121,562,494 (GRCm39)		probably null	Het
Col25a1	C	A	3: 130,270,043 (GRCm39)	P197Q	probably damaging	Het
Csde1	T	A	3: 102,963,742 (GRCm39)	S636R	possibly damaging	Het
Ect2l	C	A	10: 18,075,688 (GRCm39)	C66F	possibly damaging	Het
Elac2	T	C	11: 64,890,262 (GRCm39)	M671T	probably benign	Het
Evi5	T	C	5: 107,969,614 (GRCm39)	N143S	probably benign	Het
Fbxo38	A	G	18: 62,639,051 (GRCm39)	Y1084H	probably damaging	Het
Fcgr4	T	A	1: 170,856,760 (GRCm39)	L209Q	probably damaging	Het
Fgd3	C	T	13: 49,450,000 (GRCm39)	S83N	probably benign	Het
Gigyf2	T	A	1: 87,349,215 (GRCm39)	M664K	probably benign	Het
Il27ra	A	T	8: 84,766,128 (GRCm39)	S219T	probably benign	Het
Itprid2	A	G	2: 79,487,690 (GRCm39)	D591G	probably benign	Het
Kif15	T	C	9: 122,826,862 (GRCm39)	V800A	probably damaging	Het
Lmo7	T	A	14: 102,137,996 (GRCm39)	D666E	probably damaging	Het
Lrp5	T	C	19: 3,678,295 (GRCm39)	D520G	probably damaging	Het
Lrriq3	T	A	3: 154,893,934 (GRCm39)	M545K	probably benign	Het
Lsm5	T	A	6: 56,680,310 (GRCm39)	D44V	probably damaging	Het
Man1c1	G	T	4: 134,296,379 (GRCm39)	Y430*	probably null	Het
Map4	T	A	9: 109,866,346 (GRCm39)		probably null	Het
Megf6	A	G	4: 154,343,398 (GRCm39)	K561R	probably benign	Het
Myo1e	T	C	9: 70,229,680 (GRCm39)	Y173H	probably damaging	Het
Myo6	T	A	9: 80,190,823 (GRCm39)	S791R	possibly damaging	Het
Nol11	C	A	11: 107,075,597 (GRCm39)	E144*	probably null	Het
Ntng2	C	T	2: 29,087,074 (GRCm39)	R416Q	probably damaging	Het
Nxpe3	T	A	16: 55,686,880 (GRCm39)	I43F	possibly damaging	Het
Or4g17	T	A	2: 111,209,837 (GRCm39)	V164E	possibly damaging	Het
Or5t5	A	T	2: 86,616,691 (GRCm39)	T206S	possibly damaging	Het
Pkd1l2	T	C	8: 117,808,999 (GRCm39)	I64V	probably damaging	Het
Prf1	G	A	10: 61,136,033 (GRCm39)	R103H	probably benign	Het
Rest	A	G	5: 77,428,874 (GRCm39)	D431G	probably damaging	Het
Serpina10	A	T	12: 103,583,127 (GRCm39)	L439Q	probably damaging	Het
Sgk3	T	G	1: 9,951,804 (GRCm39)	V176G	probably damaging	Het
Slc19a3	A	G	1: 83,000,454 (GRCm39)	S188P	probably damaging	Het
Sorbs1	A	G	19: 40,338,392 (GRCm39)	I336T	probably damaging	Het
Strip1	C	T	3: 107,527,355 (GRCm39)		probably null	Het
Syt4	T	C	18: 31,576,799 (GRCm39)	E185G	possibly damaging	Het
Tcaf3	T	A	6: 42,566,738 (GRCm39)	I784F	probably damaging	Het
Tgfbr3l	G	T	8: 4,299,439 (GRCm39)	R74L	possibly damaging	Het
Thoc7	A	G	14: 13,949,282 (GRCm38)	M194T	probably benign	Het
Thsd7b	T	C	1: 129,879,129 (GRCm39)	Y989H	probably damaging	Het
Tmem156	C	T	5: 65,233,161 (GRCm39)	V134I	probably benign	Het
Tnks	A	T	8: 35,320,457 (GRCm39)	V738E	probably benign	Het
Trpm6	A	T	19: 18,770,240 (GRCm39)	I342F	probably damaging	Het
Vmn2r69	A	T	7: 85,060,711 (GRCm39)	V291D	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Wnk1	T	C	6: 119,928,953 (GRCm39)	T1292A	probably damaging	Het
Yes1	T	A	5: 32,812,584 (GRCm39)	C285S	probably benign	Het
Zbed6	T	C	1: 133,586,472 (GRCm39)	I288M	probably damaging	Het
Zbtb49	T	C	5: 38,371,263 (GRCm39)	N206S	probably benign	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
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
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'- ACTTCTGACATGGATGGACTTGCTG -3'
(R):5'- CACAGGGACTCTCACATTATCTGCG -3'

Sequencing Primer
(F):5'- CTGTGAAATTAGTAGACAGCCCTG -3'
(R):5'- CGTGTTTATTAAGACGCAGCC -3'

Posted On

2013-06-12