Incidental Mutation 'R7729:Ganab'
ID 595742
Institutional Source Beutler Lab
Gene Symbol Ganab
Ensembl Gene ENSMUSG00000071650
Gene Name alpha glucosidase 2 alpha neutral subunit
Synonyms G2an, GluII
MMRRC Submission 045785-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R7729 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 8875435-8894036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8892076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 800 (D800G)
Ref Sequence ENSEMBL: ENSMUSP00000093965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096246]
AlphaFold Q8BHN3
Predicted Effect probably benign
Transcript: ENSMUST00000096246
AA Change: D800G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650
AA Change: D800G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik T G 2: 127,028,710 (GRCm39) D163A possibly damaging Het
Abce1 A T 8: 80,414,537 (GRCm39) I454N probably damaging Het
Acaca A G 11: 84,262,339 (GRCm39) I1980M probably damaging Het
Adgrb2 C T 4: 129,885,917 (GRCm39) T19M probably benign Het
Agmo T A 12: 37,464,974 (GRCm39) S417T probably benign Het
Akap8l T C 17: 32,552,068 (GRCm39) E403G probably damaging Het
Art5 C T 7: 101,747,711 (GRCm39) A23T possibly damaging Het
Atg9a T C 1: 75,161,204 (GRCm39) T681A probably benign Het
Atp11b A G 3: 35,832,256 (GRCm39) Q37R probably damaging Het
Atp2a2 T C 5: 122,629,829 (GRCm39) E80G probably benign Het
AW551984 G A 9: 39,511,071 (GRCm39) P172L possibly damaging Het
Bace1 C T 9: 45,769,743 (GRCm39) R296C probably damaging Het
Ccser1 T A 6: 61,288,840 (GRCm39) H334Q probably benign Het
Chtf18 C T 17: 25,942,491 (GRCm39) R449H probably damaging Het
Cit A G 5: 116,122,881 (GRCm39) H1384R possibly damaging Het
Cltc A G 11: 86,612,474 (GRCm39) I524T probably benign Het
Dctn1 T A 6: 83,160,042 (GRCm39) I94N probably damaging Het
Dnhd1 A T 7: 105,354,472 (GRCm39) D3078V probably damaging Het
Dock7 G A 4: 98,943,683 (GRCm39) P520S Het
Epb41l4a C A 18: 33,987,326 (GRCm39) K350N probably damaging Het
Eprs1 T A 1: 185,145,366 (GRCm39) Y1130N probably damaging Het
Fcgrt T C 7: 44,744,797 (GRCm39) T224A probably damaging Het
Flt1 T A 5: 147,637,177 (GRCm39) T39S probably benign Het
Fxyd1 T C 7: 30,752,896 (GRCm39) Y33C probably damaging Het
Gab2 T A 7: 96,950,633 (GRCm39) V442E probably damaging Het
Gata4 C A 14: 63,478,186 (GRCm39) A138S probably benign Het
Golga4 A G 9: 118,385,131 (GRCm39) H751R possibly damaging Het
H1f6 A G 13: 23,880,455 (GRCm39) R203G possibly damaging Het
Htra4 A G 8: 25,527,093 (GRCm39) V234A possibly damaging Het
Igkv4-74 A T 6: 69,161,954 (GRCm39) Y72N probably damaging Het
Iqsec3 T C 6: 121,360,940 (GRCm39) K973E probably damaging Het
Khdc1b C A 1: 21,455,065 (GRCm39) T108K probably benign Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Kyat3 A G 3: 142,432,066 (GRCm39) probably null Het
Lrba T A 3: 86,225,474 (GRCm39) V666E probably damaging Het
Mettl25 T A 10: 105,601,871 (GRCm39) Y528F probably benign Het
Mms19 A T 19: 41,940,904 (GRCm39) Y619* probably null Het
Nlrp12 A C 7: 3,277,020 (GRCm39) probably null Het
Nol10 C T 12: 17,474,676 (GRCm39) L623F possibly damaging Het
Oas1g A G 5: 121,024,063 (GRCm39) F82S probably damaging Het
Or1j8 T G 2: 36,191,772 (GRCm39) S74A probably benign Het
Or5k3 C T 16: 58,969,570 (GRCm39) A119V probably damaging Het
Or8g18 G A 9: 39,149,546 (GRCm39) P58L probably benign Het
Oxr1 G A 15: 41,686,863 (GRCm39) E582K probably damaging Het
Pdia3 A G 2: 121,262,838 (GRCm39) D268G possibly damaging Het
Pramel13 T C 4: 144,119,434 (GRCm39) S378G probably damaging Het
Rcor3 A G 1: 191,786,078 (GRCm39) Y387H probably damaging Het
Rigi T A 4: 40,206,034 (GRCm39) I853F possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Rsl1 T C 13: 67,330,284 (GRCm39) L244P possibly damaging Het
Scn5a G T 9: 119,324,606 (GRCm39) N1407K probably damaging Het
Sdcbp C T 4: 6,378,985 (GRCm39) A24V probably benign Het
Slc22a8 A G 19: 8,571,323 (GRCm39) Y18C possibly damaging Het
Slc35d1 C T 4: 103,072,044 (GRCm39) R7H probably damaging Het
Slco6d1 A T 1: 98,425,248 (GRCm39) T599S probably damaging Het
Spata31d1e C T 13: 59,889,437 (GRCm39) M794I not run Het
St18 T A 1: 6,872,761 (GRCm39) H165Q probably benign Het
Sub1 C T 15: 11,986,589 (GRCm39) R86K probably damaging Het
Tectb G A 19: 55,181,104 (GRCm39) V148M Het
Tgfb2 C A 1: 186,362,954 (GRCm39) G290V possibly damaging Het
Tgm7 T C 2: 120,924,191 (GRCm39) H577R probably benign Het
Tle2 T C 10: 81,422,981 (GRCm39) S460P probably damaging Het
Tmem221 C A 8: 72,011,446 (GRCm39) R3L possibly damaging Het
Tnfrsf19 C A 14: 61,212,183 (GRCm39) V156L possibly damaging Het
Trav6-5 A G 14: 53,728,964 (GRCm39) K75E probably benign Het
Trip10 G A 17: 57,569,442 (GRCm39) G488S probably damaging Het
Usp34 A C 11: 23,399,268 (GRCm39) K2419T Het
Vps13d T C 4: 144,801,622 (GRCm39) Q3532R Het
Vps4a A T 8: 107,767,529 (GRCm39) I163L probably damaging Het
Wrn T C 8: 33,814,454 (GRCm39) H330R probably benign Het
Xpr1 T C 1: 155,188,618 (GRCm39) I341V probably benign Het
Zfyve9 T C 4: 108,548,973 (GRCm39) E105G probably benign 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
R0726: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
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'- AGGTGATGCACTCCTTATTCACC -3'
(R):5'- CTGGAACACGGGGATCTAAG -3'

Sequencing Primer
(F):5'- ATTCACCCTGTATCGGATGCTGG -3'
(R):5'- TGCTGCAGTGAAGCACTACTC -3'
Posted On 2019-11-12