Incidental Mutation 'IGL03064:Mgat2'
ID 409579
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgat2
Ensembl Gene ENSMUSG00000043998
Gene Name mannoside acetylglucosaminyltransferase 2
Synonyms GNT2, GNT-II, CDGS2
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # IGL03064
Quality Score
Status
Chromosome 12
Chromosomal Location 69230931-69233544 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69231777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 117 (V117D)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Ribosomal_L44 17 94 6.3e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000060579
AA Change: V117D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057905
Gene: ENSMUSG00000043998
AA Change: V117D

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Ribosomal_L44 17 95 1.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110620
SMART Domains Protein: ENSMUSP00000106250
Gene: ENSMUSG00000049751

DomainStartEndE-ValueType
Pfam:Ribosomal_L44 17 95 1.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222699
Predicted Effect probably benign
Transcript: ENSMUST00000223192
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,174,864 (GRCm39) T210A probably damaging Het
Adgb T A 10: 10,276,316 (GRCm39) T351S probably benign Het
Akap9 A G 5: 4,018,755 (GRCm39) H1112R probably damaging Het
Angptl6 A T 9: 20,786,939 (GRCm39) Y261* probably null Het
Arhgef10l A C 4: 140,306,590 (GRCm39) F395V probably damaging Het
Bub1 T C 2: 127,659,373 (GRCm39) N328S probably benign Het
Cacna1s A G 1: 136,039,731 (GRCm39) N1186D probably damaging Het
Cacna2d2 C A 9: 107,386,474 (GRCm39) F200L probably damaging Het
Calca G A 7: 114,232,919 (GRCm39) S110L probably benign Het
Ccdc120 G A X: 7,601,601 (GRCm39) P263S probably benign Het
Dcaf8l A G X: 88,448,857 (GRCm39) V424A possibly damaging Het
Dgki C A 6: 37,126,599 (GRCm39) probably benign Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
F5 A T 1: 164,023,163 (GRCm39) T1574S probably benign Het
Fam227b T C 2: 125,968,762 (GRCm39) probably null Het
Gm20521 T A 14: 55,134,680 (GRCm39) S301T possibly damaging Het
Hsd17b7 A T 1: 169,787,287 (GRCm39) I239N probably benign Het
Itih1 C A 14: 30,663,514 (GRCm39) E163D probably benign Het
Lama1 A T 17: 68,086,099 (GRCm39) Y1446F probably benign Het
Lama3 C T 18: 12,572,406 (GRCm39) T537M possibly damaging Het
Lars1 G T 18: 42,354,636 (GRCm39) Y770* probably null Het
Lrp2 A T 2: 69,313,477 (GRCm39) V2418E probably damaging Het
Maip1 A G 1: 57,446,359 (GRCm39) E143G probably damaging Het
Mast4 G T 13: 102,897,472 (GRCm39) S739* probably null Het
Mctp1 C T 13: 76,949,632 (GRCm39) Q555* probably null Het
Med14 A T X: 12,613,742 (GRCm39) D291E probably benign Het
Mllt1 A T 17: 57,207,094 (GRCm39) M250K probably benign Het
Myt1 A C 2: 181,439,594 (GRCm39) Y372S probably benign Het
Naa16 T A 14: 79,577,068 (GRCm39) Q735H probably damaging Het
Ncf4 A G 15: 78,135,102 (GRCm39) Y53C probably damaging Het
Nlrp4a A T 7: 26,148,934 (GRCm39) K180N probably benign Het
Nova1 A G 12: 46,746,861 (GRCm39) V472A probably damaging Het
Nup153 T C 13: 46,847,315 (GRCm39) T705A probably benign Het
Odf2 T A 2: 29,791,091 (GRCm39) N79K probably benign Het
Or4f7 A G 2: 111,644,768 (GRCm39) I101T possibly damaging Het
Pard3b G A 1: 62,237,930 (GRCm39) probably benign Het
Pde8b G A 13: 95,182,906 (GRCm39) T388I probably damaging Het
Phactr2 A G 10: 13,264,457 (GRCm39) probably benign Het
Phf12 T C 11: 77,874,186 (GRCm39) S17P probably damaging Het
Psmg2 T A 18: 67,779,102 (GRCm39) L90* probably null Het
Ryr2 T C 13: 11,658,788 (GRCm39) probably null Het
Sec23b T C 2: 144,423,952 (GRCm39) F534L probably benign Het
Sin3b A G 8: 73,483,686 (GRCm39) probably benign Het
Slc30a5 A T 13: 100,947,818 (GRCm39) L463Q probably damaging Het
Slc35g3 T C 11: 69,651,895 (GRCm39) H52R possibly damaging Het
Slc6a3 G T 13: 73,719,585 (GRCm39) S538I probably damaging Het
Socs2 G T 10: 95,248,713 (GRCm39) C133* probably null Het
Srebf2 G A 15: 82,076,423 (GRCm39) R691H probably benign Het
Tlr11 C A 14: 50,598,557 (GRCm39) P181Q probably damaging Het
Tlr7 T A X: 166,089,203 (GRCm39) Q761L possibly damaging Het
Tmem120b T A 5: 123,240,336 (GRCm39) Y90N possibly damaging Het
Tpcn1 T C 5: 120,675,631 (GRCm39) I778V possibly damaging Het
Ttll8 T C 15: 88,803,797 (GRCm39) T385A probably benign Het
Vmn1r223 G A 13: 23,434,153 (GRCm39) R249H probably damaging Het
Vmn2r53 A T 7: 12,334,937 (GRCm39) I241N possibly damaging Het
Wdfy3 T C 5: 102,083,863 (GRCm39) R808G probably damaging Het
Zfyve26 T A 12: 79,308,565 (GRCm39) S231C probably damaging Het
Other mutations in Mgat2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-08-02