Incidental Mutation 'R5529:Alg2'
ID433565
Institutional Source Beutler Lab
Gene Symbol Alg2
Ensembl Gene ENSMUSG00000039740
Gene Nameasparagine-linked glycosylation 2 (alpha-1,3-mannosyltransferase)
SynonymsALPG2, CDGIi
MMRRC Submission 043087-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5529 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location47465067-47474333 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 47472101 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 236 (R236G)
Ref Sequence ENSEMBL: ENSMUSP00000043580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044148] [ENSMUST00000065678] [ENSMUST00000125622] [ENSMUST00000137461]
Predicted Effect probably damaging
Transcript: ENSMUST00000044148
AA Change: R236G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043580
Gene: ENSMUSG00000039740
AA Change: R236G

DomainStartEndE-ValueType
Pfam:Glyco_transf_4 21 208 1.1e-10 PFAM
Pfam:Glyco_trans_4_4 27 189 1.3e-12 PFAM
Pfam:Glycos_transf_1 211 393 4.1e-37 PFAM
Pfam:Glyco_trans_1_4 224 379 1.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065678
SMART Domains Protein: ENSMUSP00000067681
Gene: ENSMUSG00000053317

DomainStartEndE-ValueType
Pfam:Sec61_beta 51 91 1.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136912
Predicted Effect probably benign
Transcript: ENSMUST00000137461
Predicted Effect unknown
Transcript: ENSMUST00000143104
AA Change: R108G
SMART Domains Protein: ENSMUSP00000121934
Gene: ENSMUSG00000039740
AA Change: R108G

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
Pfam:Glycos_transf_1 84 177 6.7e-11 PFAM
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygous mice die prior to genotyping age. Female heterozygous mice exhibit decreased skin fibroblast proliferation rates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,264,881 Y2079C probably damaging Het
Alpl T A 4: 137,746,422 N323I probably damaging Het
Anxa3 A G 5: 96,828,379 E172G probably benign Het
Atp8a2 A G 14: 59,793,865 probably null Het
Cadps T C 14: 12,454,285 K1078E probably damaging Het
Ces2e G T 8: 104,929,911 V258L probably benign Het
Daam2 A G 17: 49,459,057 F1041S probably benign Het
Dcstamp A G 15: 39,754,536 I114V probably benign Het
Ddhd2 C T 8: 25,739,560 R496Q probably benign Het
Dnhd1 G A 7: 105,703,209 R2523Q probably damaging Het
Eml6 T A 11: 29,764,126 R1335S probably benign Het
F12 T C 13: 55,422,059 N102S probably benign Het
Fbn1 G A 2: 125,373,950 L712F probably benign Het
Fgf1 G T 18: 38,858,604 F37L probably damaging Het
Fgf14 T A 14: 123,980,455 H212L probably damaging Het
Gm10036 A T 18: 15,832,801 Q3L probably benign Het
Hivep1 T C 13: 42,156,650 F789L possibly damaging Het
Hspg2 C A 4: 137,551,828 T3074N probably damaging Het
Katnb1 C T 8: 95,097,672 R495C probably damaging Het
Kdm5b C T 1: 134,588,003 H122Y probably damaging Het
Ky C T 9: 102,542,075 S427L probably benign Het
Med9 T G 11: 59,960,660 V105G probably benign Het
Ndufa11 T A 17: 56,721,059 V43D probably damaging Het
Nlrp4b T A 7: 10,714,946 C359S possibly damaging Het
Olfr361 T A 2: 37,084,909 I280F possibly damaging Het
Olfr558 A T 7: 102,709,693 K145* probably null Het
Paxbp1 T A 16: 91,030,513 Y478F possibly damaging Het
Pole G A 5: 110,332,466 E92K probably benign Het
Prom1 G T 5: 44,026,768 L449M probably damaging Het
Psg28 G A 7: 18,430,448 T113I probably benign Het
Reln A C 5: 21,932,715 V2493G possibly damaging Het
Rp1 C T 1: 4,345,832 V1686I probably benign Het
Setbp1 T C 18: 79,086,652 I122V probably damaging Het
Setd5 T C 6: 113,121,568 Y721H probably damaging Het
Shroom1 T C 11: 53,463,922 F223S probably damaging Het
Son T A 16: 91,655,466 L367Q probably damaging Het
Spred2 G T 11: 20,021,301 D363Y probably damaging Het
Tbc1d8 T G 1: 39,372,755 Y1000S probably benign Het
Tdp2 A T 13: 24,838,236 K213* probably null Het
Tmem89 T C 9: 108,915,477 I146T probably damaging Het
Vhl T C 6: 113,629,463 V147A probably benign Het
Vmn2r23 C T 6: 123,713,451 L429F probably benign Het
Vrk2 T C 11: 26,499,036 D186G probably damaging Het
Wisp2 T C 2: 163,825,359 probably null Het
Zbtb40 A G 4: 136,983,163 F1222L possibly damaging Het
Zfp266 A G 9: 20,506,734 S7P probably damaging Het
Zfp472 T A 17: 32,978,433 I494K possibly damaging Het
Zfp655 A G 5: 145,244,736 E468G probably damaging Het
Other mutations in Alg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Alg2 APN 4 47472329 missense probably damaging 0.99
IGL02314:Alg2 APN 4 47472143 nonsense probably null
IGL02321:Alg2 APN 4 47474249 missense probably benign 0.01
IGL02697:Alg2 APN 4 47471772 missense probably damaging 0.99
PIT4434001:Alg2 UTSW 4 47474076 missense probably benign 0.13
R1265:Alg2 UTSW 4 47474289 unclassified probably benign
R1861:Alg2 UTSW 4 47471670 missense probably benign
R3147:Alg2 UTSW 4 47472259 missense probably damaging 0.99
R3148:Alg2 UTSW 4 47472259 missense probably damaging 0.99
R4828:Alg2 UTSW 4 47471563 missense probably benign 0.31
R4937:Alg2 UTSW 4 47473974 missense probably benign 0.01
R6523:Alg2 UTSW 4 47472071 missense possibly damaging 0.50
R7007:Alg2 UTSW 4 47471881 missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- ATGACGCTCAAGGTCTGACTC -3'
(R):5'- GGAATACACCACAGGCATGG -3'

Sequencing Primer
(F):5'- GCTCAAGGTCTGACTCTTGGAC -3'
(R):5'- TCTTGGTCAACAGCCAGTACACTG -3'
Posted On2016-10-06