Mutagenetix > Incidental Mutation

Incidental Mutation 'R8005:Mgat2'

616587

Institutional Source

Beutler Lab

Gene Symbol

Mgat2

Ensembl Gene

ENSMUSG00000043998

Gene Name

mannoside acetylglucosaminyltransferase 2

Synonyms

GNT2, GNT-II, CDGS2

MMRRC Submission

046045-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.887) question?

Stock #

R8005 (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 69232722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 432 (H432R)

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: H432R

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

SMART Domains

Protein: ENSMUSP00000057905
Gene: ENSMUSG00000043998
AA Change: H432R

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	A	G	12: 84,063,774 (GRCm39)	D294G	probably benign	Het
Ak8	A	T	2: 28,602,314 (GRCm39)	S83C	probably benign	Het
Ankrd34b	C	A	13: 92,575,230 (GRCm39)	A154E	possibly damaging	Het
Anks1	A	G	17: 28,278,341 (GRCm39)	D1175G	probably damaging	Het
Ano4	T	A	10: 88,807,183 (GRCm39)	L799F	probably benign	Het
Aplp1	T	C	7: 30,135,470 (GRCm39)		probably null	Het
Apob	A	T	12: 8,059,744 (GRCm39)	H2742L	probably benign	Het
Apol7e	C	T	15: 77,602,277 (GRCm39)	Q292*	probably null	Het
Atp2b1	G	A	10: 98,830,661 (GRCm39)	G374D	probably damaging	Het
B4galt5	A	G	2: 167,143,384 (GRCm39)	S347P	probably damaging	Het
Bcl11b	T	C	12: 107,882,456 (GRCm39)	T620A	probably benign	Het
Bco2	T	A	9: 50,450,213 (GRCm39)	D329V	probably damaging	Het
Cd200l2	T	C	16: 45,352,400 (GRCm39)		probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Copg2	T	A	6: 30,873,632 (GRCm39)	M1L	possibly damaging	Het
D430041D05Rik	G	A	2: 104,088,599 (GRCm39)	H164Y	possibly damaging	Het
Dscaml1	G	T	9: 45,628,808 (GRCm39)	G1121C	probably damaging	Het
Gas2l1	A	T	11: 5,011,552 (GRCm39)	S426T	probably benign	Het
Gm9195	T	A	14: 72,663,840 (GRCm39)	I2740F	probably benign	Het
Irgm1	A	G	11: 48,757,217 (GRCm39)	I214T	probably damaging	Het
Kbtbd3	C	T	9: 4,330,655 (GRCm39)	T343I	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Ly75	A	T	2: 60,163,278 (GRCm39)	Y804N	probably damaging	Het
Nsrp1	A	T	11: 76,936,612 (GRCm39)	M528K	probably damaging	Het
Nup54	T	C	5: 92,576,006 (GRCm39)	I162V	probably benign	Het
Obsl1	T	A	1: 75,482,096 (GRCm39)	N258I	probably damaging	Het
Or1j4	A	G	2: 36,740,156 (GRCm39)	T33A	probably benign	Het
Or2y1b	G	T	11: 49,208,968 (GRCm39)	M198I	probably benign	Het
Or5p6	T	C	7: 107,631,470 (GRCm39)	R27G	possibly damaging	Het
Or5p73	T	C	7: 108,064,693 (GRCm39)	V54A	probably benign	Het
Pax2	G	A	19: 44,749,328 (GRCm39)	V20M	probably damaging	Het
Pigb	A	T	9: 72,922,546 (GRCm39)	M13K	unknown	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pik3c2a	T	C	7: 116,017,271 (GRCm39)	Y162C	probably damaging	Het
Pik3c2g	A	T	6: 139,599,067 (GRCm39)	D61V	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Pramel17	A	G	4: 101,694,448 (GRCm39)	V145A	probably damaging	Het
Prss46	A	G	9: 110,685,144 (GRCm39)	D256G	probably benign	Het
Rims1	G	T	1: 22,482,437 (GRCm39)	D196E		Het
Sbf1	A	G	15: 89,178,408 (GRCm39)	L1498P	probably damaging	Het
Sh2b1	T	C	7: 126,068,479 (GRCm39)	D444G	possibly damaging	Het
Slc7a15	T	G	12: 8,589,395 (GRCm39)	M51L	probably damaging	Het
Slitrk1	T	C	14: 109,150,697 (GRCm39)	I5V	probably benign	Het
Spart	T	A	3: 55,024,773 (GRCm39)	C123S	probably benign	Het
Sry	C	T	Y: 2,663,303 (GRCm39)	R119K	possibly damaging	Het
Tasor2	C	T	13: 3,625,681 (GRCm39)	S1423N	probably benign	Het
Tbcc	T	C	17: 47,201,686 (GRCm39)	V24A	possibly damaging	Het
Tfap2a	T	A	13: 40,872,684 (GRCm39)	M331L	possibly damaging	Het
Thnsl1	A	G	2: 21,216,755 (GRCm39)	I170V	probably benign	Het
Ticrr	T	G	7: 79,343,796 (GRCm39)	S1220R	probably damaging	Het
Tmem262	T	C	19: 6,130,507 (GRCm39)	M77T	possibly damaging	Het
Tmem67	A	G	4: 12,047,821 (GRCm39)	S771P	probably damaging	Het
Tsc2	G	A	17: 24,818,570 (GRCm39)	A1423V	probably damaging	Het
Ubr4	T	A	4: 139,139,941 (GRCm39)	Y1175N	probably damaging	Het
Usp25	G	A	16: 76,873,956 (GRCm39)	A511T	probably benign	Het
Vmn2r115	T	A	17: 23,563,124 (GRCm39)	Y58*	probably null	Het
Wt1	T	C	2: 104,957,789 (GRCm39)		probably null	Het
Zfp735	A	T	11: 73,603,140 (GRCm39)	K695*	probably null	Het
Zkscan14	A	G	5: 145,132,568 (GRCm39)	F321S	possibly damaging	Het
Zswim9	T	C	7: 12,995,064 (GRCm39)	E364G	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
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
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'- AAGTCTTAGTTCCTCAGGCTCC -3'
(R):5'- GCTATGTATCTGGACACCTTTTAC -3'

Sequencing Primer
(F):5'- CTGGAGACTGTGGTATGCATCAC -3'
(R):5'- GTATCTGGACACCTTTTACAAGAAG -3'

Posted On

2020-01-23