Incidental Mutation 'R2496:Gaa'
ID 251213
Institutional Source Beutler Lab
Gene Symbol Gaa
Ensembl Gene ENSMUSG00000025579
Gene Name glucosidase, alpha, acid
Synonyms E430018M07Rik
MMRRC Submission 040410-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.722) question?
Stock # R2496 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 119158789-119176284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119174531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 793 (S793P)
Ref Sequence ENSEMBL: ENSMUSP00000101866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026666] [ENSMUST00000026667] [ENSMUST00000106259]
AlphaFold P70699
Predicted Effect possibly damaging
Transcript: ENSMUST00000026666
AA Change: S793P

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026666
Gene: ENSMUSG00000025579
AA Change: S793P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PD 80 134 1.08e-15 SMART
Pfam:Gal_mutarotas_2 254 320 3.7e-12 PFAM
Pfam:Glyco_hydro_31 340 825 8.8e-175 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026667
SMART Domains Protein: ENSMUSP00000026667
Gene: ENSMUSG00000025580

DomainStartEndE-ValueType
DEXDc 57 254 2.44e-57 SMART
HELICc 291 372 1.63e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106259
AA Change: S793P

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101866
Gene: ENSMUSG00000025579
AA Change: S793P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PD 80 134 1.08e-15 SMART
Pfam:NtCtMGAM_N 147 253 3.5e-32 PFAM
Pfam:Gal_mutarotas_2 254 320 6.5e-12 PFAM
Pfam:Glyco_hydro_31 340 825 1.8e-153 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138849
Predicted Effect probably benign
Transcript: ENSMUST00000143288
SMART Domains Protein: ENSMUSP00000121984
Gene: ENSMUSG00000025579

DomainStartEndE-ValueType
Pfam:Glyco_hydro_31 8 207 2.2e-67 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a lysosomal acid glucosidase that is involved in the degradation of glycogen. The encoded preproprotein undergoes proteolytic processing to generate a mature enzyme that cleaves alpha-1-4 and alpha-1-6 glycosidic bonds of glycogen, maltose and intermediate oligosaccharides within the lysosome. Mice lacking the encoded protein exhibit symptoms similar to human Pompe syndrome such as accumulation of glycogen in cardiac and skeletal muscle lysosomes resulting in reduced mobility and strength. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to massive glycogen accumulation in multiple organs, cardiomyopathy, hypoactivity, severe motor disability, profound muscle weakness and wasting, and progressive kyphosis. The age of onset and clinical course ofthe disease appear to be strain-dependent. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,761,065 (GRCm39) W1926R probably damaging Het
Arhgef25 T C 10: 127,023,063 (GRCm39) T106A probably benign Het
Baz1b G A 5: 135,239,629 (GRCm39) R243Q probably damaging Het
Cdhr3 A G 12: 33,099,068 (GRCm39) Y508H probably benign Het
Cyp2d9 T A 15: 82,336,680 (GRCm39) W10R probably damaging Het
Dmxl1 A G 18: 50,013,858 (GRCm39) T1549A possibly damaging Het
Dnah8 A T 17: 31,070,705 (GRCm39) R4464W probably damaging Het
Dpp4 G A 2: 62,217,477 (GRCm39) T40M possibly damaging Het
Dync1h1 A G 12: 110,607,654 (GRCm39) H2723R possibly damaging Het
E2f3 C T 13: 30,095,289 (GRCm39) S333N probably damaging Het
Fam120a G T 13: 49,121,069 (GRCm39) A79E probably damaging Het
Fat3 A G 9: 15,877,399 (GRCm39) S3405P probably benign Het
Galc A C 12: 98,193,540 (GRCm39) F350V probably damaging Het
Garre1 A G 7: 33,955,916 (GRCm39) V391A possibly damaging Het
Gm136 A G 4: 34,746,541 (GRCm39) C157R probably damaging Het
Gm3327 A C 14: 44,363,720 (GRCm39) N108T unknown Het
H2-M10.2 A G 17: 36,596,771 (GRCm39) Y102H possibly damaging Het
Hmcn1 A T 1: 150,490,972 (GRCm39) D4192E probably benign Het
Hpse2 A C 19: 43,001,482 (GRCm39) probably null Het
Idh3a T C 9: 54,510,633 (GRCm39) V362A probably benign Het
Kdm7a A T 6: 39,147,697 (GRCm39) probably null Het
Krt6b A G 15: 101,588,216 (GRCm39) V148A probably damaging Het
Lrba G A 3: 86,439,394 (GRCm39) R1977H probably damaging Het
Magi2 A T 5: 19,883,750 (GRCm39) Y134F probably benign Het
Mamdc4 T C 2: 25,455,914 (GRCm39) Y801C probably damaging Het
Maml1 T C 11: 50,149,371 (GRCm39) T790A probably benign Het
Map3k19 A G 1: 127,750,823 (GRCm39) Y843H probably damaging Het
Mdfic A T 6: 15,741,041 (GRCm39) H45L possibly damaging Het
Mlx C T 11: 100,979,080 (GRCm39) T87I probably benign Het
Mms22l T A 4: 24,521,269 (GRCm39) I382K probably benign Het
Mtf1 A G 4: 124,732,697 (GRCm39) N585S probably benign Het
Mylk2 C T 2: 152,755,588 (GRCm39) P251S probably damaging Het
Myorg A G 4: 41,499,165 (GRCm39) V155A probably benign Het
Nox4 A T 7: 86,955,958 (GRCm39) T157S probably benign Het
Oas2 A T 5: 120,886,682 (GRCm39) H161Q probably benign Het
Obscn A T 11: 58,994,268 (GRCm39) V1563E probably damaging Het
Or2n1b T C 17: 38,460,322 (GRCm39) V281A possibly damaging Het
Or55b3 T C 7: 102,126,354 (GRCm39) K241R probably damaging Het
Or6c203 A C 10: 129,009,966 (GRCm39) F308C probably benign Het
Pcdhb11 T A 18: 37,555,375 (GRCm39) I235N probably benign Het
Pcsk5 A T 19: 17,443,522 (GRCm39) C1212* probably null Het
Ptges C T 2: 30,782,722 (GRCm39) G110D possibly damaging Het
Rsph4a A T 10: 33,784,094 (GRCm39) I239L possibly damaging Het
Setx A G 2: 29,034,813 (GRCm39) I433V probably benign Het
Smyd4 T C 11: 75,281,927 (GRCm39) S467P probably benign Het
Snai2 A T 16: 14,523,866 (GRCm39) H10L possibly damaging Het
Snw1 T C 12: 87,497,589 (GRCm39) I467V probably benign Het
Stab1 A T 14: 30,883,420 (GRCm39) C301S probably damaging Het
Tax1bp1 T A 6: 52,735,342 (GRCm39) probably null Het
Tmem70 C A 1: 16,735,575 (GRCm39) P15Q probably benign Het
Tmem87a T C 2: 120,224,859 (GRCm39) E134G probably damaging Het
Ubr4 C T 4: 139,200,516 (GRCm39) probably benign Het
Ugt2b37 C T 5: 87,402,569 (GRCm39) V21M probably damaging Het
Ugt2b38 T A 5: 87,569,551 (GRCm39) I259F probably damaging Het
Zfp804a T A 2: 82,066,188 (GRCm39) L53Q probably damaging Het
Other mutations in Gaa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Gaa APN 11 119,165,786 (GRCm39) missense probably benign
IGL00780:Gaa APN 11 119,165,117 (GRCm39) splice site probably null
IGL00975:Gaa APN 11 119,165,509 (GRCm39) missense possibly damaging 0.93
IGL01354:Gaa APN 11 119,161,394 (GRCm39) missense probably benign 0.18
IGL01572:Gaa APN 11 119,175,003 (GRCm39) missense probably benign
IGL01634:Gaa APN 11 119,164,902 (GRCm39) missense possibly damaging 0.79
IGL01724:Gaa APN 11 119,165,947 (GRCm39) missense possibly damaging 0.65
IGL01889:Gaa APN 11 119,169,123 (GRCm39) missense probably benign 0.03
IGL02052:Gaa APN 11 119,175,021 (GRCm39) missense possibly damaging 0.76
IGL02173:Gaa APN 11 119,165,739 (GRCm39) missense probably damaging 1.00
IGL02261:Gaa APN 11 119,172,091 (GRCm39) makesense probably null
IGL02337:Gaa APN 11 119,168,429 (GRCm39) missense probably damaging 1.00
IGL02625:Gaa APN 11 119,165,559 (GRCm39) missense probably damaging 1.00
IGL02818:Gaa APN 11 119,167,674 (GRCm39) missense probably damaging 0.97
R0135:Gaa UTSW 11 119,169,716 (GRCm39) missense probably benign 0.00
R0280:Gaa UTSW 11 119,175,373 (GRCm39) missense probably damaging 1.00
R0479:Gaa UTSW 11 119,172,062 (GRCm39) missense possibly damaging 0.95
R1130:Gaa UTSW 11 119,165,509 (GRCm39) missense probably damaging 0.97
R1132:Gaa UTSW 11 119,175,885 (GRCm39) missense probably damaging 0.99
R1146:Gaa UTSW 11 119,165,730 (GRCm39) missense probably damaging 1.00
R1146:Gaa UTSW 11 119,165,730 (GRCm39) missense probably damaging 1.00
R1179:Gaa UTSW 11 119,171,954 (GRCm39) missense probably damaging 0.98
R1464:Gaa UTSW 11 119,163,810 (GRCm39) missense probably benign 0.02
R1464:Gaa UTSW 11 119,163,810 (GRCm39) missense probably benign 0.02
R1475:Gaa UTSW 11 119,165,142 (GRCm39) splice site probably null
R1711:Gaa UTSW 11 119,171,286 (GRCm39) missense probably damaging 1.00
R1817:Gaa UTSW 11 119,175,324 (GRCm39) nonsense probably null
R1828:Gaa UTSW 11 119,174,098 (GRCm39) missense probably damaging 0.99
R2013:Gaa UTSW 11 119,175,409 (GRCm39) splice site probably null
R2126:Gaa UTSW 11 119,161,108 (GRCm39) nonsense probably null
R2179:Gaa UTSW 11 119,165,884 (GRCm39) critical splice acceptor site probably null
R2936:Gaa UTSW 11 119,174,550 (GRCm39) missense probably benign 0.02
R4321:Gaa UTSW 11 119,160,963 (GRCm39) missense probably benign 0.20
R4603:Gaa UTSW 11 119,169,784 (GRCm39) missense probably damaging 1.00
R4849:Gaa UTSW 11 119,163,813 (GRCm39) missense possibly damaging 0.95
R5225:Gaa UTSW 11 119,167,669 (GRCm39) missense probably damaging 1.00
R5643:Gaa UTSW 11 119,171,361 (GRCm39) missense possibly damaging 0.96
R5644:Gaa UTSW 11 119,171,361 (GRCm39) missense possibly damaging 0.96
R6074:Gaa UTSW 11 119,175,012 (GRCm39) missense probably benign 0.07
R6154:Gaa UTSW 11 119,169,178 (GRCm39) missense probably damaging 1.00
R6208:Gaa UTSW 11 119,171,997 (GRCm39) missense probably benign 0.01
R6209:Gaa UTSW 11 119,171,997 (GRCm39) missense probably benign 0.01
R6258:Gaa UTSW 11 119,171,997 (GRCm39) missense probably benign 0.01
R6259:Gaa UTSW 11 119,171,997 (GRCm39) missense probably benign 0.01
R6260:Gaa UTSW 11 119,171,997 (GRCm39) missense probably benign 0.01
R7173:Gaa UTSW 11 119,169,817 (GRCm39) missense probably damaging 1.00
R7211:Gaa UTSW 11 119,175,030 (GRCm39) missense possibly damaging 0.80
R7379:Gaa UTSW 11 119,174,525 (GRCm39) missense probably benign
R8011:Gaa UTSW 11 119,163,762 (GRCm39) missense probably benign 0.00
R8135:Gaa UTSW 11 119,169,210 (GRCm39) critical splice donor site probably null
R8192:Gaa UTSW 11 119,161,235 (GRCm39) missense possibly damaging 0.92
R8807:Gaa UTSW 11 119,168,393 (GRCm39) missense probably benign 0.02
R9028:Gaa UTSW 11 119,161,207 (GRCm39) missense probably benign 0.16
R9453:Gaa UTSW 11 119,165,959 (GRCm39) missense probably benign 0.21
R9453:Gaa UTSW 11 119,165,958 (GRCm39) missense probably damaging 1.00
X0064:Gaa UTSW 11 119,164,841 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTCCTTCTCTGGGGTCAC -3'
(R):5'- TGTATCCTGACAGTTCCAGGG -3'

Sequencing Primer
(F):5'- CAGCCAGCTTGTCCCAAGAG -3'
(R):5'- TGGGCCAGCTCCCTCTC -3'
Posted On 2014-12-04