Mutagenetix > Incidental Mutation

Incidental Mutation 'R7692:Mgat2'

593460

Institutional Source

Beutler Lab

Gene Symbol

Mgat2

Ensembl Gene

ENSMUSG00000043998

Gene Name

mannoside acetylglucosaminyltransferase 2

Synonyms

GNT2, GNT-II, CDGS2

MMRRC Submission

045756-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.887) question?

Stock #

R7692 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69230931-69233544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69231444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 6 (Y6C)

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 damaging
Transcript: ENSMUST00000060579
AA Change: Y6C

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

SMART Domains

Protein: ENSMUSP00000057905
Gene: ENSMUSG00000043998
AA Change: Y6C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	G	A	8: 43,973,832 (GRCm39)	T390I	probably benign	Het
Adgb	A	G	10: 10,287,456 (GRCm39)		probably null	Het
Ado	G	T	10: 67,384,265 (GRCm39)	Y113*	probably null	Het
Angptl1	A	G	1: 156,672,885 (GRCm39)	E237G	probably damaging	Het
Arid2	T	A	15: 96,254,578 (GRCm39)	Y141*	probably null	Het
Clvs1	T	C	4: 9,350,739 (GRCm39)	I183T	probably benign	Het
Dnah1	T	C	14: 31,014,295 (GRCm39)	K1817E	probably benign	Het
Eif3e	C	A	15: 43,126,642 (GRCm39)	R271L	probably damaging	Het
Eml6	A	G	11: 29,703,085 (GRCm39)	V1611A	probably damaging	Het
Enpp3	G	T	10: 24,660,739 (GRCm39)	Y634*	probably null	Het
Evi5l	C	T	8: 4,250,886 (GRCm39)	R394W	probably damaging	Het
Fcgr3	A	C	1: 170,881,661 (GRCm39)	F156V	probably damaging	Het
Fmo1	T	A	1: 162,661,402 (GRCm39)	T294S	probably benign	Het
Gabrb3	A	G	7: 57,466,203 (GRCm39)	Q339R	probably damaging	Het
Gen1	T	A	12: 11,292,167 (GRCm39)	T606S	probably benign	Het
Gfod1	T	C	13: 43,354,528 (GRCm39)	Q149R	probably benign	Het
Golm1	A	G	13: 59,788,071 (GRCm39)	V276A	probably benign	Het
Hc	C	A	2: 34,914,161 (GRCm39)	V849F	probably damaging	Het
Hectd4	T	C	5: 121,459,627 (GRCm39)	I832T	possibly damaging	Het
Hspa14	T	C	2: 3,497,643 (GRCm39)	D283G	probably damaging	Het
Lztfl1	C	T	9: 123,541,536 (GRCm39)	W94*	probably null	Het
Lzts3	T	C	2: 130,477,306 (GRCm39)	S381G	probably benign	Het
Mrpl30	T	C	1: 37,934,439 (GRCm39)	I27T	probably benign	Het
Muc5b	A	T	7: 141,406,966 (GRCm39)	T1045S	unknown	Het
Nlrp4a	G	A	7: 26,148,690 (GRCm39)	R99Q	probably benign	Het
Or10g1	T	C	14: 52,647,945 (GRCm39)	Y128C	probably damaging	Het
Or5b98	A	G	19: 12,931,006 (GRCm39)	T18A	possibly damaging	Het
Phlpp1	T	C	1: 106,209,132 (GRCm39)	L495P	probably damaging	Het
Pla2g4d	T	C	2: 120,109,776 (GRCm39)	D178G	possibly damaging	Het
Prl5a1	C	G	13: 28,333,997 (GRCm39)	L167V	probably damaging	Het
Sardh	A	G	2: 27,087,651 (GRCm39)	V740A	probably benign	Het
Sbno1	T	G	5: 124,543,709 (GRCm39)	T277P	probably benign	Het
Slc2a1	T	C	4: 118,993,462 (GRCm39)	V433A	probably damaging	Het
Slc4a10	T	C	2: 62,134,308 (GRCm39)	V1008A	possibly damaging	Het
Smarcal1	T	G	1: 72,625,179 (GRCm39)	S109A	probably benign	Het
Speg	A	G	1: 75,377,834 (GRCm39)	D864G	probably benign	Het
Steap4	T	C	5: 8,026,976 (GRCm39)	I313T	probably benign	Het
Tab2	A	T	10: 7,786,869 (GRCm39)	D614E	probably damaging	Het
Tenm4	A	G	7: 96,544,610 (GRCm39)	K2246E	probably damaging	Het
Timm23	A	G	14: 31,902,520 (GRCm39)	S208P	probably damaging	Het
Tmem229a	C	A	6: 24,955,211 (GRCm39)	C181F	probably benign	Het
Ugdh	T	C	5: 65,574,958 (GRCm39)	Y356C	probably damaging	Het
Ugt2a1	A	G	5: 87,634,586 (GRCm39)	L7P	probably damaging	Het
Uhrf1	A	G	17: 56,619,905 (GRCm39)	D272G	possibly damaging	Het
Vmn1r206	T	A	13: 22,804,827 (GRCm39)	I127F	probably damaging	Het
Vmn2r106	T	C	17: 20,505,490 (GRCm39)	Y68C	possibly damaging	Het
Zfand6	G	A	7: 84,283,141 (GRCm39)	P72L	not run	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
R6841:Mgat2	UTSW	12	69,232,407 (GRCm39)	missense	probably damaging	0.99
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'- TCAGCATCTGATCGAAGTTCAACTG -3'

Sequencing Primer
(F):5'- GCAGTTGAGAGCCTTCGG -3'
(R):5'- TCTGATCGAAGTTCAACTGGTACACC -3'

Posted On

2019-11-12