Mutagenetix > Incidental Mutation

Incidental Mutation 'R6841:Mgat2'

538046

Institutional Source

Beutler Lab

Gene Symbol

Mgat2

Ensembl Gene

ENSMUSG00000043998

Gene Name

mannoside acetylglucosaminyltransferase 2

Synonyms

GNT2, GNT-II, CDGS2

MMRRC Submission

044947-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

R6841 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69230931-69233544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69232407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 327 (I327N)

Ref Sequence

ENSEMBL: ENSMUSP00000057905 (fasta)

Gene Model

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

AlphaFold

Q921V5

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 damaging
Transcript: ENSMUST00000060579
AA Change: I327N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057905
Gene: ENSMUSG00000043998
AA Change: I327N

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.4%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	G	A	11: 6,150,439 (GRCm39)	W137*	probably null	Het
Acads	G	A	5: 115,250,417 (GRCm39)	T169I	probably benign	Het
Adgrg7	T	A	16: 56,570,787 (GRCm39)	N414Y	probably damaging	Het
Ankrd35	T	A	3: 96,577,742 (GRCm39)	S6T	probably damaging	Het
Armc3	A	G	2: 19,206,630 (GRCm39)		probably null	Het
Atp9a	C	A	2: 168,496,140 (GRCm39)	V555F	possibly damaging	Het
Bltp1	A	G	3: 37,075,630 (GRCm39)	Y3610C	probably damaging	Het
Cars2	C	T	8: 11,566,198 (GRCm39)	V443I	probably benign	Het
Cblc	A	G	7: 19,526,821 (GRCm39)	L137P	probably damaging	Het
Ccdc198	T	C	14: 49,481,270 (GRCm39)		probably null	Het
Cdk5r1	T	A	11: 80,369,021 (GRCm39)	C229*	probably null	Het
Cep85	C	G	4: 133,883,167 (GRCm39)	A241P	probably benign	Het
Cfap54	T	C	10: 92,710,877 (GRCm39)	Y2728C	unknown	Het
Ckap5	T	A	2: 91,400,597 (GRCm39)	W650R	probably damaging	Het
Cnot11	C	T	1: 39,579,148 (GRCm39)	Q12*	probably null	Het
Commd6	A	T	14: 101,874,534 (GRCm39)	D19E	probably damaging	Het
Crygc	C	T	1: 65,112,361 (GRCm39)	G71D	possibly damaging	Het
Cstf3	A	G	2: 104,486,076 (GRCm39)	K439E	probably benign	Het
Cyp11b2	G	T	15: 74,727,340 (GRCm39)	H114N	probably benign	Het
Cyp2d40	T	C	15: 82,645,687 (GRCm39)	D106G	probably benign	Het
Dhx8	T	A	11: 101,655,618 (GRCm39)	V1117E	probably damaging	Het
Duoxa1	G	T	2: 122,134,462 (GRCm39)	L219I	probably damaging	Het
Dynap	A	T	18: 70,374,253 (GRCm39)	I91N	probably damaging	Het
Elfn1	G	T	5: 139,958,900 (GRCm39)	G635W	probably damaging	Het
Fan1	A	T	7: 64,014,377 (GRCm39)	I618N	probably damaging	Het
Fras1	A	G	5: 96,876,410 (GRCm39)	D2381G	probably damaging	Het
Fxyd6	T	A	9: 45,302,851 (GRCm39)		probably null	Het
Gpr137b	A	T	13: 13,538,094 (GRCm39)	W286R	probably damaging	Het
Gpsm3	A	T	17: 34,809,536 (GRCm39)		probably null	Het
Has1	C	T	17: 18,064,122 (GRCm39)	V506I	probably benign	Het
Hoxd10	T	A	2: 74,522,616 (GRCm39)	V98D	probably benign	Het
Htr2b	T	A	1: 86,027,615 (GRCm39)	D297V	probably benign	Het
Hydin	G	C	8: 111,265,007 (GRCm39)	R2730P	probably benign	Het
I830077J02Rik	T	C	3: 105,833,830 (GRCm39)	N109D	possibly damaging	Het
Igf2r	A	T	17: 12,922,263 (GRCm39)	F1284I	probably damaging	Het
Ildr2	C	G	1: 166,098,144 (GRCm39)	D167E	probably damaging	Het
Ipo9	T	C	1: 135,314,046 (GRCm39)	D949G	probably benign	Het
Itga10	T	C	3: 96,564,030 (GRCm39)	F895L	probably damaging	Het
Itpr1	A	G	6: 108,365,153 (GRCm39)	N27S	probably damaging	Het
Klra4	C	A	6: 130,042,162 (GRCm39)	R35L	probably benign	Het
Map3k2	T	A	18: 32,359,682 (GRCm39)	C512S	probably benign	Het
Mertk	A	G	2: 128,601,150 (GRCm39)		probably null	Het
Mogat1	T	C	1: 78,499,496 (GRCm39)	I59T	probably damaging	Het
Mrpl2	A	T	17: 46,958,382 (GRCm39)	M55L	probably benign	Het
Nxpe3	T	C	16: 55,664,685 (GRCm39)	M512V	possibly damaging	Het
Pcdh15	T	C	10: 74,286,052 (GRCm39)	L769P	probably damaging	Het
Pcmtd2	T	G	2: 181,486,231 (GRCm39)	V117G	probably damaging	Het
Pdia2	A	T	17: 26,415,578 (GRCm39)		probably null	Het
Repin1	A	T	6: 48,574,859 (GRCm39)	Q593L	possibly damaging	Het
Rnf213	C	T	11: 119,340,692 (GRCm39)	T3517I	probably benign	Het
Rxfp2	A	T	5: 149,942,210 (GRCm39)		probably benign	Het
Skint8	T	C	4: 111,785,968 (GRCm39)	L138P	probably damaging	Het
Slc35a3	T	A	3: 116,506,417 (GRCm39)	Q5L	probably null	Het
Stab2	T	A	10: 86,778,054 (GRCm39)	N758I	probably damaging	Het
Sulf1	T	A	1: 12,908,658 (GRCm39)	I557N	probably damaging	Het
Tbc1d8	T	C	1: 39,428,455 (GRCm39)	I497V	possibly damaging	Het
Ticam2	A	C	18: 46,693,998 (GRCm39)	S30A	probably benign	Het
Timp3	T	C	10: 86,181,638 (GRCm39)	S170P	possibly damaging	Het
Top1mt	C	T	15: 75,547,973 (GRCm39)	E38K	probably benign	Het
Tpp1	G	A	7: 105,398,171 (GRCm39)	L331F	probably damaging	Het
Trpm7	A	T	2: 126,654,941 (GRCm39)	D1332E	probably benign	Het
Ttc23	A	G	7: 67,319,476 (GRCm39)	E112G	possibly damaging	Het
Ttn	T	C	2: 76,715,296 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,726,934 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,850,969 (GRCm39)	C1796S	probably damaging	Het
Ugt2b34	C	T	5: 87,040,675 (GRCm39)	V416I	probably benign	Het
Uqcrb	A	G	13: 67,048,827 (GRCm39)		probably benign	Het
Vps26b	A	G	9: 26,921,760 (GRCm39)	L255P	probably benign	Het
Wdr59	A	G	8: 112,223,512 (GRCm39)	V154A	probably damaging	Het

Other mutations in Mgat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01723:Mgat2	APN	12	69,232,415 (GRCm39)	missense	probably damaging	0.99
IGL02428:Mgat2	APN	12	69,231,558 (GRCm39)	missense	probably benign	0.45
IGL03064:Mgat2	APN	12	69,231,777 (GRCm39)	missense	probably damaging	1.00
R0554:Mgat2	UTSW	12	69,232,166 (GRCm39)	missense	probably benign
R1698:Mgat2	UTSW	12	69,232,493 (GRCm39)	missense	probably benign
R1759:Mgat2	UTSW	12	69,232,301 (GRCm39)	missense	probably benign	0.11
R2130:Mgat2	UTSW	12	69,232,068 (GRCm39)	missense	probably damaging	1.00
R5982:Mgat2	UTSW	12	69,232,454 (GRCm39)	missense	probably damaging	1.00
R5986:Mgat2	UTSW	12	69,232,158 (GRCm39)	missense	probably benign	0.10
R6265:Mgat2	UTSW	12	69,231,567 (GRCm39)	missense	probably benign
R6699:Mgat2	UTSW	12	69,231,555 (GRCm39)	missense	probably damaging	0.99
R7692:Mgat2	UTSW	12	69,231,444 (GRCm39)	missense	probably damaging	1.00
R8005:Mgat2	UTSW	12	69,232,722 (GRCm39)	missense	probably damaging	1.00
R9152:Mgat2	UTSW	12	69,232,497 (GRCm39)	nonsense	probably null
R9719:Mgat2	UTSW	12	69,232,115 (GRCm39)	missense	probably damaging	1.00
X0026:Mgat2	UTSW	12	69,231,881 (GRCm39)	missense	probably damaging	1.00
X0060:Mgat2	UTSW	12	69,232,100 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCCAGACTTTTACCATGTC -3'
(R):5'- ATGACTCAATTTGGGCACTCTGG -3'

Sequencing Primer
(F):5'- ACCATGTCTTCAAAAAGATGTGG -3'
(R):5'- ACTCTGGGTGGATGGCCTAC -3'

Posted On

2018-10-18