Incidental Mutation 'R0726:Ganab'
ID 218888
Institutional Source Beutler Lab
Gene Symbol Ganab
Ensembl Gene ENSMUSG00000071650
Gene Name alpha glucosidase 2 alpha neutral subunit
Synonyms G2an, GluII
MMRRC Submission 038908-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R0726 (G1)
Quality Score 56
Status Validated
Chromosome 19
Chromosomal Location 8875435-8894036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8888477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 511 (Y511N)
Ref Sequence ENSEMBL: ENSMUSP00000093965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096246]
AlphaFold Q8BHN3
Predicted Effect probably damaging
Transcript: ENSMUST00000096246
AA Change: Y511N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650
AA Change: Y511N

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 157 169 N/A INTRINSIC
Pfam:Gal_mutarotas_2 275 346 3.9e-24 PFAM
Pfam:Glyco_hydro_31 387 832 8.7e-136 PFAM
low complexity region 888 898 N/A INTRINSIC
Meta Mutation Damage Score 0.9692 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.1%
  • 20x: 89.2%
Validation Efficiency 98% (90/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 A G 7: 143,425,498 (GRCm39) D49G probably damaging Het
Alg12 T C 15: 88,690,850 (GRCm39) Y256C probably damaging Het
Alox15 T A 11: 70,241,021 (GRCm39) D160V probably damaging Het
Aox1 T C 1: 58,373,941 (GRCm39) probably benign Het
Bbs9 G T 9: 22,705,119 (GRCm39) A729S probably damaging Het
Bltp3a T C 17: 28,104,463 (GRCm39) V503A possibly damaging Het
Bmp2k T A 5: 97,235,353 (GRCm39) probably benign Het
Braf C T 6: 39,639,082 (GRCm39) R223Q possibly damaging Het
Cd101 A T 3: 100,927,938 (GRCm39) S48T possibly damaging Het
Cdh9 T G 15: 16,831,130 (GRCm39) D322E probably benign Het
Col28a1 C T 6: 8,014,495 (GRCm39) probably null Het
Cpxm1 G A 2: 130,232,859 (GRCm39) R712W probably damaging Het
Csnk1g1 T C 9: 65,939,637 (GRCm39) probably benign Het
Cyp2d37-ps A C 15: 82,574,650 (GRCm39) noncoding transcript Het
Cyth3 T C 5: 143,678,397 (GRCm39) V115A probably benign Het
Dnah9 C T 11: 65,856,507 (GRCm39) V2885M probably damaging Het
Dock9 G T 14: 121,889,180 (GRCm39) Y326* probably null Het
Espl1 T C 15: 102,231,033 (GRCm39) I1844T probably benign Het
Fam20a T A 11: 109,568,020 (GRCm39) N357Y probably damaging Het
Fancc C A 13: 63,471,225 (GRCm39) R385L probably benign Het
Foxe3 A T 4: 114,782,447 (GRCm39) L255H unknown Het
Frem2 T C 3: 53,427,047 (GRCm39) D2967G possibly damaging Het
Gabra6 T G 11: 42,205,954 (GRCm39) T301P probably damaging Het
Grm4 T A 17: 27,657,412 (GRCm39) probably benign Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Kcnj9 G A 1: 172,153,488 (GRCm39) S212F probably damaging Het
Kif15 C A 9: 122,788,993 (GRCm39) H62N probably benign Het
Kptn A G 7: 15,854,647 (GRCm39) D106G probably damaging Het
Krtap13-1 T A 16: 88,526,192 (GRCm39) S139T probably damaging Het
Lepr C A 4: 101,622,131 (GRCm39) N354K probably benign Het
Lypd3 G T 7: 24,337,969 (GRCm39) E112* probably null Het
Med13l A T 5: 118,886,749 (GRCm39) N1550I probably damaging Het
Mettl2 C T 11: 105,017,670 (GRCm39) P60L probably benign Het
Mtcl2 G T 2: 156,902,182 (GRCm39) R278S probably damaging Het
Muc4 A G 16: 32,590,201 (GRCm39) E850G probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nek1 A G 8: 61,542,626 (GRCm39) R739G probably damaging Het
Nipbl A T 15: 8,381,039 (GRCm39) D584E probably benign Het
Nkain3 C T 4: 20,158,388 (GRCm39) V162M possibly damaging Het
Nmrk1 T C 19: 18,618,844 (GRCm39) probably benign Het
Nsd2 T C 5: 34,018,372 (GRCm39) probably benign Het
Or2n1b T C 17: 38,459,515 (GRCm39) F12S probably damaging Het
Or4b1 T A 2: 89,979,627 (GRCm39) H241L probably damaging Het
Or4p23 A T 2: 88,576,352 (GRCm39) N293K probably benign Het
Or5b24 T A 19: 12,912,969 (GRCm39) V289D probably damaging Het
Or8b44 T A 9: 38,410,418 (GRCm39) M151K possibly damaging Het
Otulinl A T 15: 27,657,033 (GRCm39) I338N probably damaging Het
Phex T A X: 156,155,557 (GRCm39) probably benign Het
Pip5k1b G T 19: 24,356,256 (GRCm39) D227E probably damaging Het
Prdm13 A G 4: 21,683,914 (GRCm39) I119T unknown Het
Rab19 G T 6: 39,360,893 (GRCm39) V14L probably benign Het
Rasa3 A G 8: 13,630,118 (GRCm39) probably benign Het
Rgsl1 C T 1: 153,678,074 (GRCm39) S118N probably damaging Het
Rif1 C T 2: 52,000,365 (GRCm39) T1273M possibly damaging Het
Scn8a A G 15: 100,870,711 (GRCm39) N254S probably damaging Het
Sema6a T C 18: 47,425,048 (GRCm39) T188A probably damaging Het
Sh3pxd2a C T 19: 47,257,201 (GRCm39) E506K probably damaging Het
Smarca2 A T 19: 26,675,803 (GRCm39) K1014N probably damaging Het
Smarca4 T G 9: 21,611,435 (GRCm39) probably null Het
Sntb1 T C 15: 55,539,752 (GRCm39) R361G probably benign Het
Stx5a T A 19: 8,732,275 (GRCm39) I208N probably damaging Het
Tas2r102 T A 6: 132,739,415 (GRCm39) W108R probably damaging Het
Tcl1 A G 12: 105,184,929 (GRCm39) Y94H probably damaging Het
Tenm3 T A 8: 48,689,629 (GRCm39) Y1986F probably damaging Het
Tet2 G A 3: 133,173,945 (GRCm39) P1439L probably benign Het
Tiam2 T C 17: 3,563,108 (GRCm39) probably benign Het
Ubap2l G A 3: 89,928,553 (GRCm39) T526M probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ushbp1 T A 8: 71,841,391 (GRCm39) probably benign Het
Usp28 C T 9: 48,915,169 (GRCm39) R115C probably damaging Het
Vldlr A T 19: 27,215,786 (GRCm39) D261V probably damaging Het
Vmn2r5 C T 3: 64,411,186 (GRCm39) D461N probably benign Het
Vmn2r86 A T 10: 130,282,265 (GRCm39) F784I probably damaging Het
Zfp59 A T 7: 27,553,513 (GRCm39) I322F probably damaging Het
Zfp607a A T 7: 27,578,574 (GRCm39) H548L probably benign Het
Zfp626 G A 7: 27,518,048 (GRCm39) C343Y probably damaging Het
Other mutations in Ganab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Ganab APN 19 8,879,959 (GRCm39) missense probably benign
IGL00434:Ganab APN 19 8,884,707 (GRCm39) missense probably damaging 1.00
IGL01415:Ganab APN 19 8,892,058 (GRCm39) splice site probably benign
IGL02418:Ganab APN 19 8,888,433 (GRCm39) missense probably null 0.97
IGL02886:Ganab APN 19 8,888,391 (GRCm39) splice site probably benign
IGL02997:Ganab APN 19 8,892,776 (GRCm39) missense probably benign 0.00
IGL03108:Ganab APN 19 8,889,840 (GRCm39) missense probably damaging 1.00
R0240:Ganab UTSW 19 8,890,177 (GRCm39) missense possibly damaging 0.58
R0240:Ganab UTSW 19 8,890,177 (GRCm39) missense possibly damaging 0.58
R0349:Ganab UTSW 19 8,889,016 (GRCm39) missense probably null 0.11
R0457:Ganab UTSW 19 8,884,614 (GRCm39) missense possibly damaging 0.92
R0551:Ganab UTSW 19 8,884,644 (GRCm39) missense probably benign 0.35
R0645:Ganab UTSW 19 8,888,477 (GRCm39) missense probably damaging 1.00
R0652:Ganab UTSW 19 8,892,766 (GRCm39) critical splice acceptor site probably null
R0688:Ganab UTSW 19 8,888,477 (GRCm39) missense probably damaging 1.00
R1427:Ganab UTSW 19 8,893,030 (GRCm39) missense probably benign 0.00
R1946:Ganab UTSW 19 8,888,172 (GRCm39) missense probably damaging 1.00
R1955:Ganab UTSW 19 8,888,980 (GRCm39) nonsense probably null
R2173:Ganab UTSW 19 8,879,624 (GRCm39) unclassified probably benign
R2280:Ganab UTSW 19 8,886,832 (GRCm39) missense probably damaging 1.00
R2281:Ganab UTSW 19 8,886,832 (GRCm39) missense probably damaging 1.00
R4897:Ganab UTSW 19 8,892,355 (GRCm39) missense probably benign 0.07
R5224:Ganab UTSW 19 8,887,955 (GRCm39) missense probably benign 0.35
R5269:Ganab UTSW 19 8,889,301 (GRCm39) missense probably damaging 1.00
R5323:Ganab UTSW 19 8,886,049 (GRCm39) missense probably benign 0.00
R5850:Ganab UTSW 19 8,889,071 (GRCm39) missense probably damaging 1.00
R6469:Ganab UTSW 19 8,879,996 (GRCm39) critical splice donor site probably null
R6911:Ganab UTSW 19 8,885,152 (GRCm39) splice site probably null
R7284:Ganab UTSW 19 8,889,904 (GRCm39) missense probably damaging 1.00
R7412:Ganab UTSW 19 8,889,892 (GRCm39) missense probably benign 0.01
R7413:Ganab UTSW 19 8,882,339 (GRCm39) missense probably benign 0.01
R7466:Ganab UTSW 19 8,891,933 (GRCm39) nonsense probably null
R7586:Ganab UTSW 19 8,888,716 (GRCm39) missense possibly damaging 0.76
R7657:Ganab UTSW 19 8,884,721 (GRCm39) missense probably damaging 0.99
R7671:Ganab UTSW 19 8,890,216 (GRCm39) missense possibly damaging 0.94
R7729:Ganab UTSW 19 8,892,076 (GRCm39) missense probably benign 0.24
R8223:Ganab UTSW 19 8,888,192 (GRCm39) missense probably damaging 1.00
R8873:Ganab UTSW 19 8,888,243 (GRCm39) nonsense probably null
R9264:Ganab UTSW 19 8,890,228 (GRCm39) missense possibly damaging 0.81
R9388:Ganab UTSW 19 8,892,302 (GRCm39) missense probably damaging 1.00
R9447:Ganab UTSW 19 8,886,894 (GRCm39) missense probably damaging 0.99
R9450:Ganab UTSW 19 8,893,076 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTGATGGCAAGCGGTACTTC -3'
(R):5'- TCAGGGTAACTAGCTGAGCCTGAG -3'

Sequencing Primer
(F):5'- AAGCGGTACTTCACTTGGGAC -3'
(R):5'- CTGAGCCTGAGAGAGAAAACACC -3'
Posted On 2014-08-22