Mutagenetix > Incidental Mutation

Incidental Mutation 'R6488:Ext2'

522478

Institutional Source

Beutler Lab

Gene Symbol

Ext2

Ensembl Gene

ENSMUSG00000027198

Gene Name

exostosin glycosyltransferase 2

Synonyms

MMRRC Submission

044620-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6488 (G1)

Quality Score

225.009

Status

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

96% (65/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,298 (GRCm39)	Q334*	probably null	Het
Abhd15	T	C	11: 77,406,848 (GRCm39)	F275S	possibly damaging	Het
Adamts7	A	G	9: 90,053,535 (GRCm39)	T27A	probably benign	Het
Ankar	A	G	1: 72,720,967 (GRCm39)		probably null	Het
Ap2a2	T	C	7: 141,182,220 (GRCm39)	V183A	probably benign	Het
Arhgef37	G	A	18: 61,651,123 (GRCm39)	A134V	probably benign	Het
Col3a1	C	A	1: 45,370,694 (GRCm39)		probably benign	Het
Cplx3	A	G	9: 57,527,926 (GRCm39)	S10P	possibly damaging	Het
Cxcr5	A	G	9: 44,425,276 (GRCm39)	V127A	probably damaging	Het
Eif4b	T	A	15: 102,001,422 (GRCm39)		probably benign	Het
Fam83h	T	C	15: 75,873,902 (GRCm39)	E1145G	possibly damaging	Het
Fcgbp	A	G	7: 27,792,963 (GRCm39)	D989G	probably damaging	Het
Fchsd1	T	C	18: 38,100,321 (GRCm39)		probably null	Het
Fcnb	T	C	2: 27,968,301 (GRCm39)	K219E	probably damaging	Het
Fndc7	T	C	3: 108,777,891 (GRCm39)	E355G	probably damaging	Het
Glis3	T	C	19: 28,276,253 (GRCm39)	H746R	probably benign	Het
Glod4	A	G	11: 76,128,611 (GRCm39)	V74A	probably damaging	Het
Gpc6	T	C	14: 118,202,125 (GRCm39)	I445T	possibly damaging	Het
Hdlbp	T	C	1: 93,355,946 (GRCm39)	D337G	probably damaging	Het
Hnf1a	T	C	5: 115,094,020 (GRCm39)	T190A	probably benign	Het
Iqgap1	G	C	7: 80,380,074 (GRCm39)	T1129R	probably benign	Het
Kcnc3	T	C	7: 44,244,606 (GRCm39)	F299L	possibly damaging	Het
Kif26b	T	C	1: 178,357,138 (GRCm39)	V4A	unknown	Het
Kifbp	C	A	10: 62,395,437 (GRCm39)		probably null	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Krtap4-1	G	T	11: 99,518,903 (GRCm39)	R36S	unknown	Het
Lrpprc	T	C	17: 85,058,781 (GRCm39)	N693S	probably damaging	Het
Lrrc49	A	T	9: 60,509,916 (GRCm39)	F157L	probably damaging	Het
Mettl22	T	C	16: 8,305,225 (GRCm39)	F293L	probably damaging	Het
Mga	T	A	2: 119,791,388 (GRCm39)	N2424K	probably damaging	Het
Mgat4f	T	A	1: 134,318,626 (GRCm39)	V466D	probably damaging	Het
Mpdz	G	T	4: 81,205,970 (GRCm39)	A1784E	probably benign	Het
Mpv17l	G	A	16: 13,764,452 (GRCm39)		probably null	Het
Mtus1	G	A	8: 41,494,545 (GRCm39)	S29L	possibly damaging	Het
Myo15a	A	T	11: 60,369,313 (GRCm39)	H691L	possibly damaging	Het
Nbea	T	C	3: 55,625,264 (GRCm39)	T2276A	probably damaging	Het
Npas4	A	G	19: 5,036,011 (GRCm39)	S718P	probably damaging	Het
Ntrk2	T	A	13: 59,009,170 (GRCm39)	N320K	possibly damaging	Het
Nup214	T	A	2: 31,881,384 (GRCm39)	I414N	possibly damaging	Het
Oas2	A	G	5: 120,876,428 (GRCm39)	F15S	probably damaging	Het
Or52z15	T	C	7: 103,332,285 (GRCm39)	I110T	probably damaging	Het
Or5b118	T	C	19: 13,448,981 (GRCm39)	Y216H	probably damaging	Het
Pabpc6	A	G	17: 9,888,528 (GRCm39)	Y8H	probably damaging	Het
Pbx1	T	A	1: 168,018,964 (GRCm39)	N294Y	probably damaging	Het
Pcyt1a	T	C	16: 32,285,899 (GRCm39)	M190T	probably damaging	Het
Pogk	T	C	1: 166,226,991 (GRCm39)	I387V	possibly damaging	Het
Ppp6r2	T	C	15: 89,152,741 (GRCm39)	L294P	probably benign	Het
Pramel51	T	C	12: 88,144,357 (GRCm39)	H152R	possibly damaging	Het
Ptprn2	T	A	12: 116,835,658 (GRCm39)	I331K	probably benign	Het
Ptpro	T	G	6: 137,370,673 (GRCm39)	Y591*	probably null	Het
Ptprz1	T	A	6: 23,001,516 (GRCm39)	L1202*	probably null	Het
Rab37	A	G	11: 115,048,789 (GRCm39)	T73A	probably benign	Het
Rad51ap2	T	G	12: 11,508,161 (GRCm39)	S694R	possibly damaging	Het
Rb1cc1	T	A	1: 6,340,951 (GRCm39)	D148E	probably damaging	Het
Rraga	G	A	4: 86,494,565 (GRCm39)	R137H	probably damaging	Het
Serpinf2	A	G	11: 75,328,329 (GRCm39)	V73A	probably benign	Het
Siglec1	T	C	2: 130,923,227 (GRCm39)	N506S	probably damaging	Het
Slc35e4	T	C	11: 3,862,602 (GRCm39)	T196A	possibly damaging	Het
St6galnac3	C	T	3: 153,117,394 (GRCm39)	A110T	probably damaging	Het
Thsd1	T	C	8: 22,733,733 (GRCm39)	V260A	probably benign	Het
Tpbg	T	A	9: 85,726,538 (GRCm39)	V169D	possibly damaging	Het
Trav16n	A	G	14: 53,589,042 (GRCm39)	E106G	probably benign	Het
Vmn1r219	T	C	13: 23,347,135 (GRCm39)	I108T	probably benign	Het
Vmn2r50	T	C	7: 9,771,644 (GRCm39)	I686V	probably damaging	Het
Zdhhc20	C	T	14: 58,078,289 (GRCm39)	R329K	probably benign	Het
Zfp64	A	G	2: 168,777,129 (GRCm39)		probably null	Het
Zfp941	C	T	7: 140,392,663 (GRCm39)	R232H	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
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
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'- TGGGGCTCCCTAAAAGACTG -3'
(R):5'- GCACAGGGACTCTCACATTATC -3'

Sequencing Primer
(F):5'- GGCTCCCTAAAAGACTGAGAGC -3'
(R):5'- AGGGACTCTCACATTATCTGCGTG -3'

Posted On

2018-06-06