Incidental Mutation 'R6829:Gm2a'
ID 534304
Institutional Source Beutler Lab
Gene Symbol Gm2a
Ensembl Gene ENSMUSG00000000594
Gene Name GM2 ganglioside activator protein
Synonyms
MMRRC Submission 044939-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6829 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 54988941-55003855 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 54994576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000000608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000608]
AlphaFold Q60648
PDB Structure Crystal Structure of mouse GM2- activator Protein [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000000608
SMART Domains Protein: ENSMUSP00000000608
Gene: ENSMUSG00000000594

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:E1_DerP2_DerF2 33 190 5.6e-37 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal accumulation of glycolipid and ganglioside in various brain regions with impaired balance, coordination, and learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,265,446 (GRCm39) probably null Het
Adamts5 A T 16: 85,666,959 (GRCm39) M511K possibly damaging Het
Adcy9 A G 16: 4,125,018 (GRCm39) probably null Het
Cast T C 13: 74,876,463 (GRCm39) E113G possibly damaging Het
Ccdc198 A G 14: 49,464,025 (GRCm39) *295Q probably null Het
Dcaf1 T A 9: 106,715,803 (GRCm39) S307T probably damaging Het
Dmxl1 C T 18: 50,054,091 (GRCm39) P2566S probably damaging Het
Elac2 A G 11: 64,880,190 (GRCm39) E111G probably benign Het
Fbxw4 A G 19: 45,624,813 (GRCm39) F57S possibly damaging Het
Gm17655 T G 5: 110,194,792 (GRCm39) H330P probably damaging Het
Gon4l T A 3: 88,787,413 (GRCm39) D600E possibly damaging Het
Gsg1l2 T C 11: 67,665,684 (GRCm39) I84T possibly damaging Het
Igsf9 A G 1: 172,323,241 (GRCm39) R652G probably benign Het
Il17rd C T 14: 26,809,379 (GRCm39) R112* probably null Het
Jph1 C A 1: 17,074,647 (GRCm39) R457L probably damaging Het
Khdrbs3 T C 15: 68,964,810 (GRCm39) V249A possibly damaging Het
Mocs2 A G 13: 114,955,980 (GRCm39) S43G probably benign Het
Myom2 T A 8: 15,172,643 (GRCm39) L1190* probably null Het
Or2w1 T A 13: 21,317,023 (GRCm39) I26N possibly damaging Het
Or4f62 G C 2: 111,986,139 (GRCm39) probably benign Het
Or5ac16 A G 16: 59,021,898 (GRCm39) V297A probably damaging Het
Or8k33 A T 2: 86,383,613 (GRCm39) L285* probably null Het
Pgc A T 17: 48,043,706 (GRCm39) probably null Het
Plch1 T G 3: 63,604,939 (GRCm39) D1655A probably damaging Het
Pnliprp2 G A 19: 58,748,305 (GRCm39) G29R probably benign Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Rb1cc1 T C 1: 6,319,488 (GRCm39) I969T probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Sdf2l1 C G 16: 16,950,158 (GRCm39) R6P probably benign Het
Sema7a A G 9: 57,868,181 (GRCm39) E538G probably benign Het
Slc2a2 C T 3: 28,781,590 (GRCm39) Q513* probably null Het
Slc4a8 A G 15: 100,698,419 (GRCm39) Y636C probably damaging Het
Tasor A G 14: 27,164,438 (GRCm39) D248G possibly damaging Het
Trpm5 A G 7: 142,623,166 (GRCm39) probably benign Het
Vmn1r14 T C 6: 57,210,536 (GRCm39) L38P probably benign Het
Washc4 T C 10: 83,396,380 (GRCm39) S397P probably damaging Het
Wfdc3 C T 2: 164,576,178 (GRCm39) G38R possibly damaging Het
Zan A G 5: 137,414,540 (GRCm39) probably benign Het
Zfhx3 C T 8: 109,676,915 (GRCm39) T2655M probably damaging Het
Other mutations in Gm2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03132:Gm2a APN 11 54,994,474 (GRCm39) missense probably damaging 1.00
R0550:Gm2a UTSW 11 54,994,491 (GRCm39) nonsense probably null
R9652:Gm2a UTSW 11 54,999,764 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CTAGCTTTCCCAACTTGGTGG -3'
(R):5'- CAACACAGAGGAGTCCATGGTG -3'

Sequencing Primer
(F):5'- GTGGCTTCTCCTGGGATAAC -3'
(R):5'- CGCCATATCCAAGTGCATGAATGG -3'
Posted On 2018-09-12