Mutagenetix > Incidental Mutation

Incidental Mutation 'R7939:Ext2'

648918

Institutional Source

Beutler Lab

Gene Symbol

Ext2

Ensembl Gene

ENSMUSG00000027198

Gene Name

exostosin glycosyltransferase 2

Synonyms

MMRRC Submission

045985-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7939 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93525978-93652913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93560601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 522 (R522C)

Ref Sequence

ENSEMBL: ENSMUSP00000028623 (fasta)

Gene Model

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

AlphaFold

P70428

Predicted Effect

probably damaging
Transcript: ENSMUST00000028623
AA Change: R522C

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

SMART Domains

Protein: ENSMUSP00000028623
Gene: ENSMUSG00000027198
AA Change: R522C

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

probably damaging
Transcript: ENSMUST00000184931
AA Change: R522C

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

SMART Domains

Protein: ENSMUSP00000138956
Gene: ENSMUSG00000027198
AA Change: R522C

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: 100.0%
3x: 100.0%
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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,275,433 (GRCm39)	I415T	probably damaging	Het
Ackr3	A	G	1: 90,142,287 (GRCm39)	S249G	probably benign	Het
Adgre1	G	T	17: 57,756,938 (GRCm39)	A732S	probably damaging	Het
Ahnak	T	A	19: 8,991,448 (GRCm39)	L4244*	probably null	Het
Aldh3a2	C	A	11: 61,115,424 (GRCm39)	C511F	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ankrd11	A	T	8: 123,617,812 (GRCm39)	H2013Q	probably damaging	Het
Atp5mc3	A	G	2: 73,740,206 (GRCm39)		probably null	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Chtf18	A	T	17: 25,941,111 (GRCm39)	I629N	probably damaging	Het
Clstn3	T	C	6: 124,439,158 (GRCm39)	Y33C	probably damaging	Het
Cmc2	T	C	8: 117,616,513 (GRCm39)	R71G	unknown	Het
Cts7	A	T	13: 61,504,364 (GRCm39)	N66K	probably damaging	Het
Cysltr2	C	T	14: 73,267,399 (GRCm39)	V104I	possibly damaging	Het
Dnai4	G	A	4: 102,953,798 (GRCm39)	Q134*	probably null	Het
Dnm3	C	T	1: 162,123,165 (GRCm39)	V460I	possibly damaging	Het
Ecel1	C	T	1: 87,077,256 (GRCm39)	V651I	probably benign	Het
Farp2	T	C	1: 93,487,983 (GRCm39)	L70P	probably damaging	Het
Fnip1	T	C	11: 54,393,093 (GRCm39)	Y510H	probably damaging	Het
Gm15446	T	C	5: 110,090,360 (GRCm39)	V204A	probably benign	Het
Gm29394	T	C	15: 57,912,046 (GRCm39)	K53E	unknown	Het
Gm39115	T	C	7: 141,689,768 (GRCm39)	T2A	unknown	Het
Helz2	A	G	2: 180,879,543 (GRCm39)	W692R	probably damaging	Het
Htra2	A	T	6: 83,028,545 (GRCm39)	Y428N	probably damaging	Het
Khdrbs2	T	A	1: 32,212,056 (GRCm39)	S20T	probably benign	Het
Kifap3	C	A	1: 163,643,427 (GRCm39)	Y217*	probably null	Het
Mast2	A	T	4: 116,287,668 (GRCm39)	S136T	probably benign	Het
Mesp1	C	T	7: 79,442,734 (GRCm39)	W181*	probably null	Het
Mtch1	A	C	17: 29,559,806 (GRCm39)	S158A	probably damaging	Het
Mtmr10	C	A	7: 63,963,899 (GRCm39)	S211R	probably benign	Het
Mtmr9	C	A	14: 63,771,973 (GRCm39)	Q204H	probably damaging	Het
Myo5a	A	G	9: 75,097,182 (GRCm39)	N43D		Het
Myom3	G	T	4: 135,534,589 (GRCm39)		probably null	Het
Neb	T	C	2: 52,076,073 (GRCm39)	D5903G	probably damaging	Het
Niban1	T	G	1: 151,581,775 (GRCm39)	L457R	probably damaging	Het
Noxred1	A	G	12: 87,268,105 (GRCm39)	V342A	probably benign	Het
Nsd2	T	A	5: 34,012,933 (GRCm39)	S421R	probably benign	Het
Or10a3	T	C	7: 108,480,481 (GRCm39)	I111V	probably benign	Het
Or5p55	T	A	7: 107,566,986 (GRCm39)	C127*	probably null	Het
Oxa1l	T	C	14: 54,604,876 (GRCm39)	C270R	probably benign	Het
Pcdha3	T	A	18: 37,080,933 (GRCm39)	N558K	probably damaging	Het
Pcdha7	T	C	18: 37,109,063 (GRCm39)	V696A	possibly damaging	Het
Pigl	T	C	11: 62,349,506 (GRCm39)	L74P	probably damaging	Het
Plch2	G	T	4: 155,087,235 (GRCm39)	R339S	possibly damaging	Het
Prdm11	G	T	2: 92,843,074 (GRCm39)	D128E	probably damaging	Het
Ptdss1	A	G	13: 67,143,411 (GRCm39)	T415A	probably benign	Het
Ptprj	A	T	2: 90,295,009 (GRCm39)	W400R	probably damaging	Het
Qdpr	T	C	5: 45,607,407 (GRCm39)	Y13C	probably damaging	Het
Retsat	G	A	6: 72,581,919 (GRCm39)	M355I	probably benign	Het
Slc24a1	T	G	9: 64,835,648 (GRCm39)	E826D	probably benign	Het
Taok3	T	C	5: 117,331,902 (GRCm39)	F40L	probably benign	Het
Tecta	T	C	9: 42,299,519 (GRCm39)	T190A	probably damaging	Het
Tmem220	C	A	11: 66,920,850 (GRCm39)	T85K	probably damaging	Het
Traip	T	C	9: 107,833,077 (GRCm39)	F38L	probably benign	Het
Tspan1	A	T	4: 116,024,209 (GRCm39)	I18N	probably damaging	Het
Ttc24	A	T	3: 87,981,945 (GRCm39)	D40E	possibly damaging	Het
Ttn	A	T	2: 76,542,737 (GRCm39)	Y33416*	probably null	Het
Ttn	A	T	2: 76,576,105 (GRCm39)	D24929E	probably damaging	Het
Vmn2r16	T	A	5: 109,487,705 (GRCm39)	S193T	possibly damaging	Het
Vmn2r83	T	A	10: 79,314,651 (GRCm39)	W300R	probably damaging	Het
Vps13a	C	T	19: 16,718,155 (GRCm39)	V522M	possibly damaging	Het
Wdr17	C	A	8: 55,140,677 (GRCm39)	R232L	probably damaging	Het
Wtap	A	T	17: 13,200,683 (GRCm39)	Y33*	probably null	Het
Zc3h10	A	T	10: 128,380,376 (GRCm39)	V327E	probably damaging	Het
Zfp658	T	C	7: 43,224,301 (GRCm39)	S859P	possibly damaging	Het
Zfp874b	A	T	13: 67,622,622 (GRCm39)	C225*	probably null	Het
Zfp980	A	T	4: 145,428,582 (GRCm39)	H437L	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
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
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'- GCTGTCATTGGAGAACTGGC -3'
(R):5'- TCTGCATGTCAGAGTCCCTG -3'

Sequencing Primer
(F):5'- TCATTGGAGAACTGGCGGTCC -3'
(R):5'- CATGTCAGAGTCCCTGGTGGAG -3'

Posted On

2020-09-15