Mutagenetix > Incidental Mutation

Incidental Mutation 'R5982:Mgat2'

481485

Institutional Source

Beutler Lab

Gene Symbol

Mgat2

Ensembl Gene

ENSMUSG00000043998

Gene Name

mannoside acetylglucosaminyltransferase 2

Synonyms

GNT2, GNT-II, CDGS2

MMRRC Submission

044163-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

R5982 (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 69232454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 343 (W343R)

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: W343R

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

SMART Domains

Protein: ENSMUSP00000057905
Gene: ENSMUSG00000043998
AA Change: W343R

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

Meta Mutation Damage Score

0.9703

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,844,423 (GRCm39)	E931D	possibly damaging	Het
Aebp1	C	T	11: 5,817,911 (GRCm39)	T62I	possibly damaging	Het
Babam2	A	T	5: 31,977,964 (GRCm39)	E139V	possibly damaging	Het
Bclaf1	C	T	10: 20,198,809 (GRCm39)	R67*	probably null	Het
Bcr	C	A	10: 75,012,248 (GRCm39)	T51K	probably benign	Het
Best3	T	A	10: 116,840,322 (GRCm39)	C251S	probably damaging	Het
Birc6	A	G	17: 74,955,153 (GRCm39)	M3457V	probably benign	Het
C87436	C	A	6: 86,422,957 (GRCm39)	T177K	possibly damaging	Het
Cabin1	T	A	10: 75,561,394 (GRCm39)	T1036S	probably benign	Het
Catsperg2	C	A	7: 29,412,442 (GRCm39)	V383L	possibly damaging	Het
Ccdc182	C	T	11: 88,185,165 (GRCm39)	Q82*	probably null	Het
Ccl9	T	C	11: 83,466,700 (GRCm39)	T76A	probably damaging	Het
Cdc16	G	T	8: 13,831,399 (GRCm39)	C544F	possibly damaging	Het
Cdh18	A	C	15: 23,474,302 (GRCm39)	D724A	possibly damaging	Het
Cdip1	G	A	16: 4,587,946 (GRCm39)	P6S	probably damaging	Het
Col12a1	A	G	9: 79,537,842 (GRCm39)	V2542A	probably damaging	Het
Dnajc13	G	T	9: 104,061,814 (GRCm39)	T1380K	possibly damaging	Het
Dsg4	T	A	18: 20,598,226 (GRCm39)	S715T	possibly damaging	Het
Dync2h1	G	T	9: 6,955,986 (GRCm39)	T4132K	probably benign	Het
Egfem1	A	T	3: 29,711,419 (GRCm39)		probably null	Het
Etl4	G	T	2: 20,785,826 (GRCm39)	V716L	probably damaging	Het
Exoc3l2	A	G	7: 19,213,957 (GRCm39)	E461G	unknown	Het
Fam135b	A	G	15: 71,320,518 (GRCm39)		probably null	Het
Flrt3	G	T	2: 140,502,836 (GRCm39)	P264Q	possibly damaging	Het
Fmn2	G	C	1: 174,330,019 (GRCm39)	E136D	unknown	Het
Fosl2	A	G	5: 32,304,217 (GRCm39)	I51V	probably benign	Het
Foxm1	A	G	6: 128,347,998 (GRCm39)	T307A	probably damaging	Het
Garem1	T	C	18: 21,281,408 (GRCm39)	D316G	possibly damaging	Het
Gm14403	A	T	2: 177,200,345 (GRCm39)	H97L	probably damaging	Het
Gm5616	A	G	9: 48,361,890 (GRCm39)		noncoding transcript	Het
Hkdc1	T	C	10: 62,229,589 (GRCm39)	D696G	probably benign	Het
Igkv1-88	C	A	6: 68,839,432 (GRCm39)	W60L	probably damaging	Het
Iqgap3	G	A	3: 87,998,899 (GRCm39)	W333*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnk3	G	T	5: 30,780,014 (GRCm39)	V355L	probably benign	Het
Kmt5c	A	C	7: 4,749,790 (GRCm39)	K436T	probably damaging	Het
Lynx1	T	C	15: 74,623,264 (GRCm39)	Y56C	possibly damaging	Het
Lypd5	T	C	7: 24,052,462 (GRCm39)	S149P	probably damaging	Het
Map3k21	A	T	8: 126,638,169 (GRCm39)	N252Y	probably damaging	Het
Misp	T	G	10: 79,663,728 (GRCm39)	Y567*	probably null	Het
Mrgprb1	A	T	7: 48,097,568 (GRCm39)	S115T	probably benign	Het
Muc16	A	C	9: 18,558,442 (GRCm39)	I2617R	unknown	Het
Myo19	T	A	11: 84,790,226 (GRCm39)	V394E	probably damaging	Het
Myo9b	T	A	8: 71,801,040 (GRCm39)	L1065Q	probably benign	Het
Nap1l1	A	G	10: 111,331,229 (GRCm39)	D405G	possibly damaging	Het
Napb	A	T	2: 148,542,411 (GRCm39)		probably null	Het
Nbas	A	G	12: 13,443,431 (GRCm39)	Y1162C	probably benign	Het
Nfam1	A	T	15: 82,917,325 (GRCm39)	L36Q	probably damaging	Het
Nrros	T	C	16: 31,963,411 (GRCm39)	D202G	probably damaging	Het
Or51k1	T	G	7: 103,661,117 (GRCm39)	H264P	probably damaging	Het
Or7a39	T	G	10: 78,715,787 (GRCm39)	Y260*	probably null	Het
Osgin2	T	C	4: 15,998,908 (GRCm39)	E238G	probably benign	Het
Papss2	A	G	19: 32,616,636 (GRCm39)	T221A	probably benign	Het
Pcdhga12	A	C	18: 37,901,084 (GRCm39)	K639Q	probably damaging	Het
Pkhd1l1	T	A	15: 44,352,900 (GRCm39)		probably null	Het
Pmepa1	A	G	2: 173,076,105 (GRCm39)	S83P	possibly damaging	Het
Pnp	G	A	14: 51,188,000 (GRCm39)	V118M	probably damaging	Het
Ppat	T	C	5: 77,063,112 (GRCm39)	T500A	probably benign	Het
Pramel22	C	A	4: 143,381,034 (GRCm39)	V330F	probably damaging	Het
Rab11fip4	A	G	11: 79,581,601 (GRCm39)	N532S	probably benign	Het
Rbm25	A	G	12: 83,718,725 (GRCm39)	D499G	probably damaging	Het
Rnf139	A	G	15: 58,770,687 (GRCm39)	I237M	possibly damaging	Het
Rrp15	C	T	1: 186,471,952 (GRCm39)	S85N	possibly damaging	Het
Sidt1	T	C	16: 44,082,071 (GRCm39)	Y568C	probably damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Sltm	G	C	9: 70,494,086 (GRCm39)	E828Q	probably damaging	Het
Spindoc	A	G	19: 7,351,960 (GRCm39)	I129T	probably damaging	Het
Spire1	T	A	18: 67,630,386 (GRCm39)		probably null	Het
Styx	A	G	14: 45,605,909 (GRCm39)	T138A	probably benign	Het
Sv2c	A	T	13: 96,112,571 (GRCm39)	L642*	probably null	Het
Taf7	T	C	18: 37,776,498 (GRCm39)	E23G	probably damaging	Het
Tcp10a	A	T	17: 7,612,425 (GRCm39)	T406S	possibly damaging	Het
Tnrc6b	T	A	15: 80,765,017 (GRCm39)	S840T	probably benign	Het
Tns3	A	G	11: 8,442,245 (GRCm39)	I706T	probably damaging	Het
Tpsab1	A	G	17: 25,564,346 (GRCm39)	V36A	probably benign	Het
Trafd1	T	A	5: 121,511,342 (GRCm39)	D492V	probably damaging	Het
Trp53	A	G	11: 69,478,244 (GRCm39)	E51G	probably benign	Het
Vdr	C	T	15: 97,755,477 (GRCm39)	A349T	probably benign	Het
Vmn2r59	T	C	7: 41,695,491 (GRCm39)	D307G	probably benign	Het
Zfp365	C	A	10: 67,733,437 (GRCm39)	V252F	probably damaging	Het
Zfp830	T	A	11: 82,655,803 (GRCm39)	N202K	probably benign	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
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
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'- TCTCTCTAGGGACCTACACCAC -3'
(R):5'- AATGGCTGCCATAGGAAACTTC -3'

Sequencing Primer
(F):5'- ACACCACCATTCGGAGTTTCTATGG -3'
(R):5'- TCACCGATAACTAGAGTTTCCGG -3'

Posted On

2017-06-26