Incidental Mutation 'R7412:Ganab'
ID 575189
Institutional Source Beutler Lab
Gene Symbol Ganab
Ensembl Gene ENSMUSG00000071650
Gene Name alpha glucosidase 2 alpha neutral subunit
Synonyms G2an, GluII
MMRRC Submission 045493-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R7412 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 8875435-8894036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8889892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 652 (I652T)
Ref Sequence ENSEMBL: ENSMUSP00000093965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096246]
AlphaFold Q8BHN3
Predicted Effect probably benign
Transcript: ENSMUST00000096246
AA Change: I652T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650
AA Change: I652T

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (71/73)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,448,691 (GRCm39) Y335* probably null Het
Alpk1 A T 3: 127,466,143 (GRCm39) L1121Q probably damaging Het
Alpk1 A G 3: 127,489,382 (GRCm39) I99T probably damaging Het
Ap2a2 T A 7: 141,206,049 (GRCm39) F717I probably damaging Het
Arhgap33 C T 7: 30,222,477 (GRCm39) D1152N probably benign Het
Arvcf A G 16: 18,220,350 (GRCm39) D642G probably benign Het
Astn1 T G 1: 158,329,919 (GRCm39) M258R probably damaging Het
Brinp3 C G 1: 146,777,748 (GRCm39) L732V possibly damaging Het
Carmil1 T C 13: 24,282,793 (GRCm39) D547G possibly damaging Het
Ccdc177 A G 12: 80,805,792 (GRCm39) F161L possibly damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cnot10 A G 9: 114,454,971 (GRCm39) Y221H probably damaging Het
Col6a3 T A 1: 90,755,855 (GRCm39) I145F probably damaging Het
Crybg2 A G 4: 133,801,434 (GRCm39) T865A probably benign Het
Cyp4f37 A G 17: 32,848,818 (GRCm39) S229G possibly damaging Het
Ddx56 G A 11: 6,211,720 (GRCm39) T462I probably damaging Het
Dhx30 T C 9: 109,921,966 (GRCm39) M239V probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Ephb6 A G 6: 41,597,173 (GRCm39) K994E probably damaging Het
Fam83a A C 15: 57,849,821 (GRCm39) T122P probably benign Het
Fbxo24 C A 5: 137,617,885 (GRCm39) C293F possibly damaging Het
Fech A T 18: 64,591,255 (GRCm39) S390T probably benign Het
Fras1 A G 5: 96,762,748 (GRCm39) H750R probably benign Het
Frmpd2 A G 14: 33,293,926 (GRCm39) D1364G probably benign Het
Gm21103 T A 14: 17,482,943 (GRCm39) T153S probably benign Het
Gm21886 GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG 18: 80,132,967 (GRCm39) probably benign Het
Gm5799 A G 14: 43,781,995 (GRCm39) I56V possibly damaging Het
Gm7276 T C 18: 77,273,183 (GRCm39) R184G unknown Het
Gmip T G 8: 70,273,149 (GRCm39) D845E probably benign Het
Hspa9 T C 18: 35,082,082 (GRCm39) K175E probably damaging Het
Ipo13 A G 4: 117,752,068 (GRCm39) F890L probably benign Het
Irag1 A T 7: 110,522,963 (GRCm39) V160D probably benign Het
Klrb1f C T 6: 129,033,308 (GRCm39) R179* probably null Het
Nasp A G 4: 116,467,785 (GRCm39) V400A possibly damaging Het
Ncoa7 T A 10: 30,598,847 (GRCm39) K25N possibly damaging Het
Ndrg1 A C 15: 66,832,382 (GRCm39) M1R probably null Het
Nf1 G A 11: 79,364,240 (GRCm39) A1557T probably damaging Het
Nrde2 G A 12: 100,108,509 (GRCm39) Q361* probably null Het
Opn1sw A T 6: 29,379,856 (GRCm39) L126Q probably damaging Het
Or10ak16 A T 4: 118,750,327 (GRCm39) I16F possibly damaging Het
Or1af1 C T 2: 37,109,774 (GRCm39) T91I possibly damaging Het
Or1j4 T C 2: 36,740,478 (GRCm39) L140P probably benign Het
Or5au1 A T 14: 52,273,310 (GRCm39) L86* probably null Het
Or7g17 A T 9: 18,768,085 (GRCm39) I46F possibly damaging Het
Or8g50 T C 9: 39,648,422 (GRCm39) F104L probably benign Het
Osmr A G 15: 6,853,048 (GRCm39) Y616H probably damaging Het
Pagr1a T C 7: 126,615,736 (GRCm39) T120A probably benign Het
Patj A G 4: 98,299,376 (GRCm39) E166G probably damaging Het
Plk4 G A 3: 40,766,613 (GRCm39) V764I probably benign Het
Polr3h G A 15: 81,800,602 (GRCm39) probably null Het
Ptprb T A 10: 116,177,043 (GRCm39) D989E probably benign Het
Sdk2 A T 11: 113,758,909 (GRCm39) probably null Het
Setd1b C A 5: 123,290,639 (GRCm39) R869S unknown Het
Sgcz T C 8: 37,990,565 (GRCm39) I263V probably benign Het
Skint8 G A 4: 111,785,758 (GRCm39) G68D probably benign Het
Slc22a7 A T 17: 46,745,553 (GRCm39) V326E probably benign Het
Slc39a1 T G 3: 90,156,396 (GRCm39) L38R probably damaging Het
Slc4a4 A G 5: 89,362,506 (GRCm39) probably null Het
Sptlc3 A G 2: 139,431,537 (GRCm39) E353G possibly damaging Het
Ssh2 G T 11: 77,340,934 (GRCm39) L695F probably damaging Het
Tacr2 C A 10: 62,097,427 (GRCm39) Y302* probably null Het
Tas2r117 T C 6: 132,780,192 (GRCm39) L110P probably damaging Het
Tex9 A T 9: 72,394,060 (GRCm39) probably null Het
Tmem17 A T 11: 22,468,645 (GRCm39) T195S probably benign Het
Trcg1 T A 9: 57,148,766 (GRCm39) S113T probably benign Het
Trpa1 A T 1: 14,954,422 (GRCm39) F826I probably benign Het
Usp17lc A G 7: 103,067,575 (GRCm39) Y290C probably damaging Het
Vmn2r32 T A 7: 7,477,212 (GRCm39) D393V possibly damaging Het
Wdfy4 A G 14: 32,871,541 (GRCm39) L290P Het
Xpnpep1 G C 19: 52,994,722 (GRCm39) A302G probably benign Het
Xrn2 T C 2: 146,891,266 (GRCm39) L692P probably damaging Het
Zgrf1 A G 3: 127,356,720 (GRCm39) S649G probably benign Het
Zscan4b C T 7: 10,634,791 (GRCm39) C484Y probably damaging Het
Zscan4b T C 7: 10,635,820 (GRCm39) D169G 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
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'- AGGCCTTTGCTAAGTTCCTAG -3'
(R):5'- TTCTTGAAGAAGCCACCCAC -3'

Sequencing Primer
(F):5'- AAGAGTTGTGTTTAACTTCACTCTC -3'
(R):5'- CACCCACATCCGCTGGG -3'
Posted On 2019-10-07