Mutagenetix > Incidental Mutations

Incidental Mutation 'R1698:Mgat2'

192437

Institutional Source

Beutler Lab

Gene Symbol

Mgat2

Ensembl Gene

ENSMUSG00000043998

Gene Name

mannoside acetylglucosaminyltransferase 2

Synonyms

CDGS2, GNT-II, GNT2

MMRRC Submission

039731-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.585) question?

Stock #

R1698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69184157-69186770 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69185719 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 356 (I356F)

Ref Sequence

ENSEMBL: ENSMUSP00000057905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021356] [ENSMUST00000054544] [ENSMUST00000060579] [ENSMUST00000110619] [ENSMUST00000110620] [ENSMUST00000222699]

Predicted Effect

probably benign
Transcript: ENSMUST00000021356

SMART Domains

Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
Pfam:PIH1	43	352	2e-99	PFAM
low complexity region	360	373	N/A	INTRINSIC
SCOP:d1keka4	398	460	4e-3	SMART
low complexity region	672	693	N/A	INTRINSIC
low complexity region	734	743	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000054544

SMART Domains

Protein: ENSMUSP00000059766
Gene: ENSMUSG00000049751

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L44	17	94	6.3e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060579
AA Change: I356F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057905
Gene: ENSMUSG00000043998
AA Change: I356F

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:MGAT2	87	435	2.4e-158	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110619

SMART Domains

Protein: ENSMUSP00000106249
Gene: ENSMUSG00000049751

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L44	17	95	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110620

SMART Domains

Protein: ENSMUSP00000106250
Gene: ENSMUSG00000049751

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L44	17	95	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000222699

Predicted Effect

probably benign
Transcript: ENSMUST00000223192

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice recapitulate aspects of the phenotype exhibited by patients with congenital disorders of glycosylation (CDG), particularly type IIa. Most null mice died either embyronically or postnataly and exhibited muscular, gastrointestinal, hematologic, and osteogenic defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	C	6: 121,645,158	E340A	possibly damaging	Het
Abca13	A	G	11: 9,314,507	D2963G	probably benign	Het
Actn3	T	C	19: 4,862,207	D783G	possibly damaging	Het
Adamtsl2	A	G	2: 27,103,127	E723G	possibly damaging	Het
Agrn	G	T	4: 156,166,558	Q1931K	probably benign	Het
Ankrd27	G	A	7: 35,614,521	A426T	probably benign	Het
Atg9b	C	A	5: 24,388,188	G406C	probably damaging	Het
BC005561	C	T	5: 104,520,510	A966V	probably benign	Het
C1ra	A	T	6: 124,522,766	Q637L	probably benign	Het
Cdhr2	A	T	13: 54,719,581	M438L	probably benign	Het
Cep350	T	C	1: 155,953,358	I267V	possibly damaging	Het
Chrna5	A	G	9: 55,004,642	Y138C	probably damaging	Het
Chst3	T	A	10: 60,185,703	M441L	probably benign	Het
Cmya5	G	A	13: 93,063,519	P3434S	probably benign	Het
Cog2	T	A	8: 124,525,683	L42Q	probably damaging	Het
Cpq	A	T	15: 33,250,126	I210F	probably benign	Het
Crnn	C	A	3: 93,148,458	Q184K	probably damaging	Het
Csnka2ip	A	T	16: 64,478,059	Y647*	probably null	Het
D5Ertd579e	C	T	5: 36,604,530	R1331H	probably benign	Het
Dennd5a	C	T	7: 109,917,380		probably null	Het
Dync1h1	A	G	12: 110,626,992	Q1231R	possibly damaging	Het
Erbin	T	A	13: 103,833,731	I1126F	possibly damaging	Het
Fastkd1	T	C	2: 69,702,469	D518G	probably benign	Het
Gcc1	A	G	6: 28,421,111	L69P	possibly damaging	Het
Gkn1	T	C	6: 87,347,169	Y119C	probably damaging	Het
Gmpr	T	G	13: 45,517,044	W81G	probably benign	Het
Gyg	T	A	3: 20,138,051	I236F	probably benign	Het
Hcrtr2	T	C	9: 76,246,453	Y219C	probably damaging	Het
Hmcn1	G	A	1: 150,565,369	Q5379*	probably null	Het
Kank1	T	C	19: 25,411,317	C785R	probably benign	Het
Lrp1b	A	T	2: 40,851,806	C3036*	probably null	Het
Mdga2	T	C	12: 66,689,335	D373G	probably damaging	Het
Miga2	A	G	2: 30,377,997	D346G	probably damaging	Het
Mprip	T	A	11: 59,760,258	L1596Q	possibly damaging	Het
Mroh2b	G	A	15: 4,914,140	R386Q	probably benign	Het
Mst1r	T	A	9: 107,919,980	S1349R	probably benign	Het
Mtmr3	C	T	11: 4,492,825	R403H	possibly damaging	Het
Mycbpap	G	A	11: 94,508,143	Q460*	probably null	Het
Myo9a	T	C	9: 59,868,181	V1025A	probably benign	Het
Ncapd2	C	T	6: 125,168,590	E1365K	probably null	Het
Nkiras2	C	A	11: 100,625,163	D105E	probably damaging	Het
Nolc1	T	G	19: 46,081,431		probably null	Het
Nos1	T	C	5: 117,867,232	F6L	probably benign	Het
Olfr1112	G	T	2: 87,191,737	V17L	probably benign	Het
Olfr1278	T	A	2: 111,292,560	C97*	probably null	Het
Olfr1369-ps1	C	T	13: 21,116,565	T291I	probably benign	Het
Olfr218	A	T	1: 173,203,371	N5I	probably damaging	Het
Olfr325	T	C	11: 58,581,251	Y136H	probably damaging	Het
Olfr910	T	A	9: 38,539,256	Y120*	probably null	Het
Pfkm	A	G	15: 98,128,318	E598G	possibly damaging	Het
Phf2	A	T	13: 48,807,630	D861E	unknown	Het
Polr2a	A	G	11: 69,739,877		probably null	Het
Popdc2	G	A	16: 38,369,491	V167M	probably damaging	Het
Ptpn22	T	C	3: 103,885,798	S422P	probably benign	Het
Rasa2	T	C	9: 96,568,375	K490R	possibly damaging	Het
Rbfox3	T	A	11: 118,495,221	D286V	probably damaging	Het
Rdh13	A	G	7: 4,427,791	W223R	probably damaging	Het
Riok3	T	C	18: 12,128,929	S7P	probably benign	Het
Rnaseh2b	A	G	14: 62,353,632	E144G	probably benign	Het
Rnf20	C	T	4: 49,651,498	Q655*	probably null	Het
Rpap2	T	C	5: 107,603,550	Y8H	probably damaging	Het
Slc5a10	T	C	11: 61,709,602	Y181C	probably benign	Het
Snd1	G	T	6: 28,888,253	G896*	probably null	Het
Spast	C	T	17: 74,356,160	Q158*	probably null	Het
Tas2r104	G	A	6: 131,685,584	S54F	probably damaging	Het
Tcaf2	C	T	6: 42,628,017	W611*	probably null	Het
Timp4	G	A	6: 115,250,403		probably null	Het
Tmem45a	G	A	16: 56,823,570	S72L	probably benign	Het
Tnrc18	T	C	5: 142,788,703	T124A	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Ttn	T	C	2: 76,942,915	D2381G	probably damaging	Het
Uevld	T	C	7: 46,955,624	T41A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc5d	T	C	8: 28,696,478	E527G	probably damaging	Het
Vmn2r125	C	T	4: 156,351,038	T237I	probably benign	Het
Vmn2r63	A	C	7: 42,933,614	I59S	probably benign	Het
Vps72	G	A	3: 95,118,695	S106N	probably benign	Het
Zan	A	C	5: 137,409,669		probably benign	Het
Zbtb38	T	C	9: 96,685,462	K1190E	probably benign	Het
Zc3h6	T	C	2: 129,017,358	V1103A	probably benign	Het
Zfp407	G	A	18: 84,562,157	T277I	probably damaging	Het
Zfp804b	A	G	5: 6,769,509	S1149P	probably damaging	Het

Other mutations in Mgat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01723:Mgat2	APN	12	69185641	missense	probably damaging	0.99
IGL02428:Mgat2	APN	12	69184784	missense	probably benign	0.45
IGL03064:Mgat2	APN	12	69185003	missense	probably damaging	1.00
R0554:Mgat2	UTSW	12	69185392	missense	probably benign
R1759:Mgat2	UTSW	12	69185527	missense	probably benign	0.11
R2130:Mgat2	UTSW	12	69185294	missense	probably damaging	1.00
R5982:Mgat2	UTSW	12	69185680	missense	probably damaging	1.00
R5986:Mgat2	UTSW	12	69185384	missense	probably benign	0.10
R6265:Mgat2	UTSW	12	69184793	missense	probably benign
R6699:Mgat2	UTSW	12	69184781	missense	probably damaging	0.99
R6841:Mgat2	UTSW	12	69185633	missense	probably damaging	0.99
R7692:Mgat2	UTSW	12	69184670	missense	probably damaging	1.00
R8005:Mgat2	UTSW	12	69185948	missense	probably damaging	1.00
X0026:Mgat2	UTSW	12	69185107	missense	probably damaging	1.00
X0060:Mgat2	UTSW	12	69185326	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAGAGGACCACTACTTAGCCC -3'
(R):5'- GCTGCCATAGGAAACTTCTCACCG -3'

Sequencing Primer
(F):5'- ACCATTCGGAGTTTCTATGGC -3'
(R):5'- TCACCGATAACTAGAGTTTCCG -3'

Posted On

2014-05-14