Mutagenetix > Incidental Mutation

Incidental Mutation 'R6265:Mgat2'

506967

Institutional Source

Beutler Lab

Gene Symbol

Mgat2

Ensembl Gene

ENSMUSG00000043998

Gene Name

mannoside acetylglucosaminyltransferase 2

Synonyms

GNT2, GNT-II, CDGS2

MMRRC Submission

044438-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.887) question?

Stock #

R6265 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69230931-69233544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69231567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 47 (V47A)

Ref Sequence

ENSEMBL: ENSMUSP00000057905 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000060579
AA Change: V47A

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

SMART Domains

Protein: ENSMUSP00000057905
Gene: ENSMUSG00000043998
AA Change: V47A

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: ENSMUST00000223192

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	C	T	4: 137,181,986 (GRCm39)	P47L	probably damaging	Het
Acot1	T	C	12: 84,063,687 (GRCm39)	I265T	probably benign	Het
Amotl1	T	C	9: 14,482,951 (GRCm39)	D587G	possibly damaging	Het
Anks1b	T	G	10: 90,777,362 (GRCm39)	D1117E	probably damaging	Het
Art4	T	G	6: 136,831,886 (GRCm39)	N85T	probably damaging	Het
Asb3	C	A	11: 31,035,143 (GRCm39)	Q462K	probably benign	Het
Atcay	C	T	10: 81,049,114 (GRCm39)	E163K	possibly damaging	Het
Atp6v0e	T	C	17: 26,895,507 (GRCm39)	V20A	possibly damaging	Het
Atp7b	G	A	8: 22,505,943 (GRCm39)	Q520*	probably null	Het
Baat	A	T	4: 49,502,836 (GRCm39)	D95E	possibly damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Ccdc24	G	A	4: 117,728,374 (GRCm39)	Q47*	probably null	Het
Cep170b	C	A	12: 112,710,993 (GRCm39)	Q1488K	probably damaging	Het
Cldn24	A	C	8: 48,275,374 (GRCm39)	D66A	probably benign	Het
Cln5	C	A	14: 103,310,663 (GRCm39)	T110K	probably damaging	Het
Clvs2	C	A	10: 33,404,511 (GRCm39)	S235I	possibly damaging	Het
Col5a3	C	T	9: 20,705,060 (GRCm39)	G730R	unknown	Het
Crim1	C	T	17: 78,677,514 (GRCm39)	P905L	probably benign	Het
Cxxc4	T	C	3: 133,963,824 (GRCm39)	V356A	probably benign	Het
Dctn6	G	T	8: 34,562,057 (GRCm39)	N93K	probably damaging	Het
Dnah9	G	A	11: 66,058,920 (GRCm39)	A125V	probably benign	Het
Dnhd1	T	C	7: 105,342,577 (GRCm39)	I1307T	probably benign	Het
Dpy19l1	T	A	9: 24,343,667 (GRCm39)	I493F	possibly damaging	Het
Ebf2	A	G	14: 67,661,509 (GRCm39)	I546V	probably benign	Het
Fbll1	T	C	11: 35,688,636 (GRCm39)	E209G	probably damaging	Het
Foxj2	G	A	6: 122,805,133 (GRCm39)	A2T	probably damaging	Het
Foxs1	A	T	2: 152,774,098 (GRCm39)	C318*	probably null	Het
Gorab	T	C	1: 163,214,199 (GRCm39)	T244A	possibly damaging	Het
Gtsf1l	C	A	2: 162,929,583 (GRCm39)		probably benign	Het
Herc1	T	C	9: 66,279,298 (GRCm39)	S69P	probably benign	Het
Hpca	C	T	4: 129,012,445 (GRCm39)	W30*	probably null	Het
Ing3	C	A	6: 21,953,813 (GRCm39)	Q85K	probably damaging	Het
Klhdc8b	T	C	9: 108,325,624 (GRCm39)	E264G	probably damaging	Het
Lair1	T	A	7: 4,058,826 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,057,650 (GRCm39)	Y575H	probably damaging	Het
Lamtor2	C	A	3: 88,458,020 (GRCm39)	G29*	probably null	Het
Loxhd1	A	T	18: 77,449,426 (GRCm39)	D341V	probably damaging	Het
Lrp2	T	A	2: 69,296,684 (GRCm39)	D3290V	probably damaging	Het
Matn2	A	T	15: 34,399,301 (GRCm39)	D396V	probably damaging	Het
Me3	T	A	7: 89,498,951 (GRCm39)	D510E	probably benign	Het
Melk	A	G	4: 44,318,109 (GRCm39)	Y170C	probably damaging	Het
Mindy4	T	C	6: 55,278,049 (GRCm39)	I631T	probably damaging	Het
Myo5b	T	A	18: 74,710,511 (GRCm39)		probably null	Het
Myo7b	A	T	18: 32,131,203 (GRCm39)	D521E	probably damaging	Het
Nlrp9b	T	A	7: 19,796,608 (GRCm39)	F986I	probably benign	Het
Or8k39	A	G	2: 86,563,299 (GRCm39)	L219P	probably damaging	Het
Patj	A	G	4: 98,357,804 (GRCm39)	D690G	probably benign	Het
Pias2	T	C	18: 77,184,954 (GRCm39)	S5P	probably damaging	Het
Reep4	A	T	14: 70,785,143 (GRCm39)	S150C	probably damaging	Het
Slc25a21	T	C	12: 57,243,685 (GRCm39)	R14G	probably benign	Het
Slc6a6	G	C	6: 91,731,896 (GRCm39)	R575T	probably damaging	Het
Speg	T	A	1: 75,383,323 (GRCm39)	Y886*	probably null	Het
Tas2r103	A	C	6: 133,013,494 (GRCm39)	F191V	probably damaging	Het
Tbc1d19	A	G	5: 53,995,266 (GRCm39)	D145G	probably benign	Het
Tex47	T	A	5: 7,355,461 (GRCm39)	I214N	probably damaging	Het
Tnnt3	A	T	7: 142,055,382 (GRCm39)	D3V	probably damaging	Het
Trdv2-1	T	G	14: 54,183,842 (GRCm39)	S24A	probably benign	Het
Ubr4	A	G	4: 139,179,951 (GRCm39)	D3377G	possibly damaging	Het
Ugt3a1	A	T	15: 9,361,665 (GRCm39)	D147V	probably damaging	Het
Usp9y	A	T	Y: 1,446,843 (GRCm39)	D103E	probably benign	Homo
Vmn1r168	A	G	7: 23,240,961 (GRCm39)	I273V	probably benign	Het
Vmn2r61	T	C	7: 41,915,915 (GRCm39)	I176T	probably benign	Het
Vmn2r8	T	A	5: 108,956,463 (GRCm39)	D53V	probably benign	Het
Zbtb8os	A	T	4: 129,229,775 (GRCm39)		probably benign	Het
Zfp551	C	T	7: 12,149,339 (GRCm39)	R690Q	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
R6699:Mgat2	UTSW	12	69,231,555 (GRCm39)	missense	probably damaging	0.99
R6841:Mgat2	UTSW	12	69,232,407 (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'- TGCAACTGCCAGAGAGGATG -3'
(R):5'- GTATTCCGGCCTGTTATGCACC -3'

Sequencing Primer
(F):5'- AGCCCGGGATGAGTTAGC -3'
(R):5'- AGGTGCCGTCATTACCGAC -3'

Posted On

2018-03-15