Incidental Mutation 'R5529:Alg2'
ID 433565
Institutional Source Beutler Lab
Gene Symbol Alg2
Ensembl Gene ENSMUSG00000039740
Gene Name ALG2 alpha-1,3/1,6-mannosyltransferase
Synonyms CDGIi, 1110018A23Rik, ALPG2, 1300013N08Rik
MMRRC Submission 043087-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5529 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 47469833-47474367 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47472101 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9DBE8
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: 71,304,040 (GRCm39) Y2079C probably damaging Het
Alpl T A 4: 137,473,733 (GRCm39) N323I probably damaging Het
Anxa3 A G 5: 96,976,238 (GRCm39) E172G probably benign Het
Atp8a2 A G 14: 60,031,314 (GRCm39) probably null Het
Cadps T C 14: 12,454,285 (GRCm38) K1078E probably damaging Het
Ccn5 T C 2: 163,667,279 (GRCm39) probably null Het
Ces2e G T 8: 105,656,543 (GRCm39) V258L probably benign Het
Daam2 A G 17: 49,766,085 (GRCm39) F1041S probably benign Het
Dcstamp A G 15: 39,617,932 (GRCm39) I114V probably benign Het
Ddhd2 C T 8: 26,229,587 (GRCm39) R496Q probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Eml6 T A 11: 29,714,126 (GRCm39) R1335S probably benign Het
F12 T C 13: 55,569,872 (GRCm39) N102S probably benign Het
Fbn1 G A 2: 125,215,870 (GRCm39) L712F probably benign Het
Fgf1 G T 18: 38,991,657 (GRCm39) F37L probably damaging Het
Fgf14 T A 14: 124,217,867 (GRCm39) H212L probably damaging Het
Gm10036 A T 18: 15,965,858 (GRCm39) Q3L probably benign Het
Hivep1 T C 13: 42,310,126 (GRCm39) F789L possibly damaging Het
Hspg2 C A 4: 137,279,139 (GRCm39) T3074N probably damaging Het
Katnb1 C T 8: 95,824,300 (GRCm39) R495C probably damaging Het
Kdm5b C T 1: 134,515,741 (GRCm39) H122Y probably damaging Het
Ky C T 9: 102,419,274 (GRCm39) S427L probably benign Het
Med9 T G 11: 59,851,486 (GRCm39) V105G probably benign Het
Ndufa11 T A 17: 57,028,059 (GRCm39) V43D probably damaging Het
Nlrp4b T A 7: 10,448,873 (GRCm39) C359S possibly damaging Het
Or12k8 T A 2: 36,974,921 (GRCm39) I280F possibly damaging Het
Or51e1 A T 7: 102,358,900 (GRCm39) K145* probably null Het
Paxbp1 T A 16: 90,827,401 (GRCm39) Y478F possibly damaging Het
Pole G A 5: 110,480,332 (GRCm39) E92K probably benign Het
Prom1 G T 5: 44,184,110 (GRCm39) L449M probably damaging Het
Psg28 G A 7: 18,164,373 (GRCm39) T113I probably benign Het
Reln A C 5: 22,137,713 (GRCm39) V2493G possibly damaging Het
Rp1 C T 1: 4,416,055 (GRCm39) V1686I probably benign Het
Setbp1 T C 18: 79,129,867 (GRCm39) I122V probably damaging Het
Setd5 T C 6: 113,098,529 (GRCm39) Y721H probably damaging Het
Shroom1 T C 11: 53,354,749 (GRCm39) F223S probably damaging Het
Son T A 16: 91,452,354 (GRCm39) L367Q probably damaging Het
Spred2 G T 11: 19,971,301 (GRCm39) D363Y probably damaging Het
Tbc1d8 T G 1: 39,411,836 (GRCm39) Y1000S probably benign Het
Tdp2 A T 13: 25,022,219 (GRCm39) K213* probably null Het
Tmem89 T C 9: 108,744,545 (GRCm39) I146T probably damaging Het
Vhl T C 6: 113,606,424 (GRCm39) V147A probably benign Het
Vmn2r23 C T 6: 123,690,410 (GRCm39) L429F probably benign Het
Vrk2 T C 11: 26,449,036 (GRCm39) D186G probably damaging Het
Zbtb40 A G 4: 136,710,474 (GRCm39) F1222L possibly damaging Het
Zfp266 A G 9: 20,418,030 (GRCm39) S7P probably damaging Het
Zfp472 T A 17: 33,197,407 (GRCm39) I494K possibly damaging Het
Zfp655 A G 5: 145,181,546 (GRCm39) E468G probably damaging Het
Other mutations in Alg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Alg2 APN 4 47,472,329 (GRCm39) missense probably damaging 0.99
IGL02314:Alg2 APN 4 47,472,143 (GRCm39) nonsense probably null
IGL02321:Alg2 APN 4 47,474,249 (GRCm39) missense probably benign 0.01
IGL02697:Alg2 APN 4 47,471,772 (GRCm39) missense probably damaging 0.99
PIT4434001:Alg2 UTSW 4 47,474,076 (GRCm39) missense probably benign 0.13
R1265:Alg2 UTSW 4 47,474,289 (GRCm39) unclassified probably benign
R1861:Alg2 UTSW 4 47,471,670 (GRCm39) missense probably benign
R3147:Alg2 UTSW 4 47,472,259 (GRCm39) missense probably damaging 0.99
R3148:Alg2 UTSW 4 47,472,259 (GRCm39) missense probably damaging 0.99
R4828:Alg2 UTSW 4 47,471,563 (GRCm39) missense probably benign 0.31
R4937:Alg2 UTSW 4 47,473,974 (GRCm39) missense probably benign 0.01
R6523:Alg2 UTSW 4 47,472,071 (GRCm39) missense possibly damaging 0.50
R7007:Alg2 UTSW 4 47,471,881 (GRCm39) missense probably benign 0.31
R7990:Alg2 UTSW 4 47,472,308 (GRCm39) missense probably damaging 1.00
R8361:Alg2 UTSW 4 47,471,848 (GRCm39) missense probably damaging 1.00
R8678:Alg2 UTSW 4 47,474,108 (GRCm39) missense probably damaging 1.00
R8885:Alg2 UTSW 4 47,474,159 (GRCm39) missense probably benign 0.00
R9248:Alg2 UTSW 4 47,474,001 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGACGCTCAAGGTCTGACTC -3'
(R):5'- GGAATACACCACAGGCATGG -3'

Sequencing Primer
(F):5'- GCTCAAGGTCTGACTCTTGGAC -3'
(R):5'- TCTTGGTCAACAGCCAGTACACTG -3'
Posted On 2016-10-06