Incidental Mutation 'R9248:Alg2'
ID 701351
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9248 (G1)
Quality Score 144.008
Status Validated
Chromosome 4
Chromosomal Location 47469833-47474367 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47474001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 96 (F96L)
Ref Sequence ENSEMBL: ENSMUSP00000043580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044148] [ENSMUST00000065678] [ENSMUST00000125622] [ENSMUST00000137461]
AlphaFold Q9DBE8
Predicted Effect probably benign
Transcript: ENSMUST00000044148
AA Change: F96L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000043580
Gene: ENSMUSG00000039740
AA Change: F96L

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 probably benign
Transcript: ENSMUST00000137461
Predicted Effect probably benign
Transcript: ENSMUST00000143104
SMART Domains Protein: ENSMUSP00000121934
Gene: ENSMUSG00000039740

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
Pfam:Glycos_transf_1 84 177 6.7e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,983,002 (GRCm39) N132S probably benign Het
Agpat2 A G 2: 26,483,601 (GRCm39) *279Q probably null Het
Akr1c19 C A 13: 4,292,974 (GRCm39) D243E probably benign Het
Apob C T 12: 8,065,231 (GRCm39) Q4067* probably null Het
C1ra A T 6: 124,489,580 (GRCm39) probably benign Het
C8a T C 4: 104,703,199 (GRCm39) Y330C probably damaging Het
Ccdc185 A G 1: 182,576,221 (GRCm39) V156A probably benign Het
Ces1g A G 8: 94,060,319 (GRCm39) L100P possibly damaging Het
Cnbd1 T C 4: 18,862,113 (GRCm39) N359S possibly damaging Het
Crybb2 C T 5: 113,211,094 (GRCm39) A65T probably benign Het
Dcaf5 T C 12: 80,386,563 (GRCm39) D521G probably benign Het
Dnmt1 A G 9: 20,833,408 (GRCm39) F631L possibly damaging Het
Dok1 T A 6: 83,008,893 (GRCm39) D263V possibly damaging Het
Ecel1 A G 1: 87,081,112 (GRCm39) F293L probably benign Het
Ehmt1 A T 2: 24,738,077 (GRCm39) L509Q possibly damaging Het
Fbln2 T A 6: 91,231,556 (GRCm39) V551E possibly damaging Het
Fig4 C T 10: 41,153,478 (GRCm39) V108I probably benign Het
Gpa33 A G 1: 165,991,396 (GRCm39) Y209C probably damaging Het
Heatr5a T C 12: 51,963,026 (GRCm39) H52R Het
Heatr9 A T 11: 83,409,281 (GRCm39) D157E possibly damaging Het
Jakmip2 A C 18: 43,685,242 (GRCm39) M682R probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Layn A G 9: 50,968,760 (GRCm39) S328P possibly damaging Het
Mblac2 A G 13: 81,859,769 (GRCm39) D41G probably damaging Het
Mboat1 A G 13: 30,410,392 (GRCm39) Y283C probably damaging Het
Mdga2 A G 12: 66,736,226 (GRCm39) V334A possibly damaging Het
Mroh4 C T 15: 74,485,167 (GRCm39) R515H possibly damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nsrp1 G A 11: 76,937,036 (GRCm39) R387W probably benign Het
Or5p59 T C 7: 107,703,256 (GRCm39) S247P probably damaging Het
Or8c16 T C 9: 38,130,706 (GRCm39) Y193H probably benign Het
Ostm1 T C 10: 42,574,210 (GRCm39) V301A probably damaging Het
Pcdhb13 A T 18: 37,577,608 (GRCm39) D662V probably damaging Het
Pfpl T A 19: 12,406,374 (GRCm39) S208R probably damaging Het
Plin5 A T 17: 56,419,324 (GRCm39) V366E probably damaging Het
Rmi1 A G 13: 58,556,899 (GRCm39) I383V probably benign Het
Rnh1 T C 7: 140,740,714 (GRCm39) T414A probably benign Het
Sash1 C A 10: 8,617,296 (GRCm39) G537W probably damaging Het
Slc9c1 A G 16: 45,370,551 (GRCm39) N264S probably benign Het
Speg A C 1: 75,398,420 (GRCm39) T1956P probably damaging Het
St14 T C 9: 31,002,905 (GRCm39) Y666C probably damaging Het
Stab2 T A 10: 86,727,481 (GRCm39) H1448L probably damaging Het
Syne2 C T 12: 76,154,230 (GRCm39) probably benign Het
Taf9 T A 13: 100,790,860 (GRCm39) probably benign Het
Thumpd2 G A 17: 81,334,040 (GRCm39) A516V possibly damaging Het
Tmem132e A G 11: 82,335,308 (GRCm39) K797E probably damaging Het
Tpte A G 8: 22,841,489 (GRCm39) T494A possibly damaging Het
Ttc41 T A 10: 86,567,113 (GRCm39) L593Q probably benign Het
Uggt1 A C 1: 36,249,103 (GRCm39) I279S possibly damaging Het
Uxs1 A G 1: 43,804,084 (GRCm39) F277S probably damaging Het
Vat1 A T 11: 101,351,380 (GRCm39) N320K possibly damaging Het
Wdr81 G T 11: 75,336,256 (GRCm39) A592E Het
Zfp780b C T 7: 27,673,143 (GRCm39) probably null Het
Zfp944 A T 17: 22,562,619 (GRCm39) probably null Het
Zfp956 G T 6: 47,934,437 (GRCm39) G136W possibly 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
R5529:Alg2 UTSW 4 47,472,101 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- AAATTGGTGGCCGTTCTCTC -3'
(R):5'- ATGGCCGAAAACCTGTACCG -3'

Sequencing Primer
(F):5'- TCTCCCTGGGGACTCCTG -3'
(R):5'- CGGGTTTACAGCCCATCTG -3'
Posted On 2022-03-25