Mutagenetix > Incidental Mutation

Incidental Mutation 'R2130:Mgat2'

227981

Institutional Source

Beutler Lab

Gene Symbol

Mgat2

Ensembl Gene

ENSMUSG00000043998

Gene Name

mannoside acetylglucosaminyltransferase 2

Synonyms

GNT2, GNT-II, CDGS2

MMRRC Submission

040133-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

R2130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69230931-69233544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69232068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 214 (F214S)

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: F214S

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

SMART Domains

Protein: ENSMUSP00000057905
Gene: ENSMUSG00000043998
AA Change: F214S

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

0.7554

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

94% (94/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Aadacl2fm3	T	C	3: 59,772,769 (GRCm39)	V91A	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adgrv1	T	C	13: 81,729,846 (GRCm39)	T212A	possibly damaging	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Apaf1	A	T	10: 90,896,027 (GRCm39)	Y348*	probably null	Het
Apobr	A	G	7: 126,186,378 (GRCm39)	T630A	probably benign	Het
Arhgap23	A	G	11: 97,342,387 (GRCm39)	D223G	possibly damaging	Het
Asic1	A	T	15: 99,569,756 (GRCm39)	T26S	possibly damaging	Het
Atp13a2	T	A	4: 140,732,327 (GRCm39)	M864K	probably damaging	Het
Atrnl1	G	A	19: 57,643,426 (GRCm39)	G438D	probably damaging	Het
Bbc3	T	C	7: 16,046,268 (GRCm39)	V68A	possibly damaging	Het
Birc6	T	C	17: 74,966,149 (GRCm39)		probably benign	Het
Btnl9	A	G	11: 49,071,523 (GRCm39)	F100S	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccpg1	A	G	9: 72,920,440 (GRCm39)	N685S	probably damaging	Het
Ces3b	T	A	8: 105,819,607 (GRCm39)		probably null	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clhc1	A	G	11: 29,507,663 (GRCm39)	I126V	probably benign	Het
Crocc	T	C	4: 140,756,413 (GRCm39)	I1071V	probably benign	Het
Dbt	T	A	3: 116,332,773 (GRCm39)	D16E	probably damaging	Het
Dnajc8	T	C	4: 132,271,370 (GRCm39)	S62P	possibly damaging	Het
Dpyd	T	C	3: 118,468,217 (GRCm39)	V77A	probably benign	Het
Dram2	T	A	3: 106,478,076 (GRCm39)	M136K	possibly damaging	Het
Dtx2	T	A	5: 136,040,894 (GRCm39)	F100I	probably damaging	Het
Dync2h1	A	T	9: 7,011,253 (GRCm39)	W3654R	probably damaging	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fgf17	T	C	14: 70,875,927 (GRCm39)	R102G	probably damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm6578	C	A	6: 12,100,186 (GRCm39)		noncoding transcript	Het
Gm8374	T	C	14: 18,537,078 (GRCm39)	T49A	probably damaging	Het
Gm9797	G	T	10: 11,485,113 (GRCm39)		noncoding transcript	Het
Golga3	T	C	5: 110,350,805 (GRCm39)		probably null	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Isoc2b	A	T	7: 4,854,438 (GRCm39)	I31N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Krtap16-1	A	T	11: 99,876,602 (GRCm39)	C267*	probably null	Het
Lamc2	T	A	1: 153,002,870 (GRCm39)	D1037V	probably damaging	Het
Lhfpl2	A	G	13: 94,328,557 (GRCm39)	D206G	possibly damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Niban2	A	G	2: 32,813,659 (GRCm39)	K624R	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or56a5	T	A	7: 104,792,757 (GRCm39)	I254F	probably benign	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psph	T	A	5: 129,864,603 (GRCm39)		probably null	Het
Ptpro	A	G	6: 137,388,114 (GRCm39)		probably null	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Qrich2	C	T	11: 116,339,243 (GRCm39)		probably benign	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Rnf17	T	C	14: 56,730,811 (GRCm39)	V1205A	probably damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Sgo2b	T	C	8: 64,380,181 (GRCm39)	R884G	probably benign	Het
Slc10a5	G	T	3: 10,400,278 (GRCm39)	D127E	probably benign	Het
Slc25a35	T	G	11: 68,859,791 (GRCm39)	S101R	possibly damaging	Het
Slc6a13	T	C	6: 121,302,000 (GRCm39)	L194P	possibly damaging	Het
Snw1	T	G	12: 87,499,473 (GRCm39)		probably benign	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Srsf12	C	T	4: 33,225,764 (GRCm39)		probably benign	Het
Ssxa1	T	A	X: 20,985,581 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	T	A	14: 27,168,345 (GRCm39)	Y296N	probably damaging	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tkfc	A	G	19: 10,573,405 (GRCm39)	I279T	probably damaging	Het
Tmem98	A	G	11: 80,708,348 (GRCm39)	E106G	probably damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttn	T	C	2: 76,572,861 (GRCm39)	T24265A	possibly damaging	Het
Usp37	A	G	1: 74,500,815 (GRCm39)	V582A	probably damaging	Het
Vps13b	T	A	15: 35,671,546 (GRCm39)	I1683N	probably benign	Het
Vps13d	C	T	4: 144,882,671 (GRCm39)	R968H	probably benign	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Vwf	C	T	6: 125,634,020 (GRCm39)	T166I	probably damaging	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp459	A	T	13: 67,556,395 (GRCm39)	H229Q	probably benign	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	Het
Zmynd19	T	A	2: 24,842,648 (GRCm39)	Y15*	probably null	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
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
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'- AACAGTCTGATCTCCAGGGTG -3'
(R):5'- AAACTCCGAATGGTGGTGTAG -3'

Sequencing Primer
(F):5'- TCCAGGGTGGATTTCTGCCC -3'
(R):5'- TCCCTAGAGAGAGGACGTCAC -3'

Posted On

2014-09-17