Incidental Mutation 'IGL02474:Gba2'
ID294847
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gba2
Ensembl Gene ENSMUSG00000028467
Gene Nameglucosidase beta 2
Synonymsbile acid
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02474
Quality Score
Status
Chromosome4
Chromosomal Location43566928-43578873 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43568538 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 643 (M643V)
Ref Sequence ENSEMBL: ENSMUSP00000030189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030189] [ENSMUST00000102944] [ENSMUST00000130443] [ENSMUST00000132631] [ENSMUST00000167751]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030189
AA Change: M643V

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467
AA Change: M643V

DomainStartEndE-ValueType
Pfam:GBA2_N 142 446 9.4e-106 PFAM
Pfam:DUF608 512 879 1.3e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102944
SMART Domains Protein: ENSMUSP00000100008
Gene: ENSMUSG00000028466

DomainStartEndE-ValueType
low complexity region 54 83 N/A INTRINSIC
low complexity region 132 147 N/A INTRINSIC
BRLZ 158 222 2.03e-15 SMART
low complexity region 240 253 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128403
Predicted Effect probably benign
Transcript: ENSMUST00000130443
SMART Domains Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467

DomainStartEndE-ValueType
Pfam:GBA2_N 142 180 5.6e-13 PFAM
Pfam:GBA2_N 178 227 1.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159923
Predicted Effect probably benign
Transcript: ENSMUST00000167751
SMART Domains Protein: ENSMUSP00000129401
Gene: ENSMUSG00000028466

DomainStartEndE-ValueType
low complexity region 54 83 N/A INTRINSIC
low complexity region 156 171 N/A INTRINSIC
BRLZ 182 246 2.03e-15 SMART
low complexity region 264 277 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accumulation of glucosylceramides in multiple tissues, and show impaired male fertility associated with globozoospermia, oligozoospermia, reduced sperm motility, and male germ cell apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 13,818,229 E283G probably damaging Het
Ahnak A G 19: 9,004,933 I1194V probably benign Het
Aqr T A 2: 114,112,646 N1149Y probably damaging Het
Bms1 T C 6: 118,416,519 I131V probably benign Het
Cacna1s A C 1: 136,118,380 T1461P probably benign Het
Chrnb3 T C 8: 27,393,369 S113P probably damaging Het
Col1a2 C T 6: 4,516,398 R171C unknown Het
Cramp1l A G 17: 24,985,050 V318A probably damaging Het
Csf2ra A G 19: 61,226,537 V163A possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ctnnd2 A G 15: 30,669,562 D439G possibly damaging Het
Dnah11 T A 12: 118,027,445 probably null Het
Dyrk4 C A 6: 126,880,231 C495F probably damaging Het
Gabra6 A G 11: 42,307,417 V402A probably benign Het
Gbp9 A T 5: 105,094,567 probably benign Het
Ginm1 A G 10: 7,777,768 probably benign Het
Git1 T A 11: 77,503,391 D282E probably damaging Het
Gm5799 T C 14: 43,544,629 I86T probably damaging Het
Gm9894 T C 13: 67,765,094 noncoding transcript Het
Gng12 A G 6: 67,015,761 K4R probably benign Het
Hnrnpul1 A T 7: 25,726,757 D556E probably benign Het
Kat6b T A 14: 21,669,039 L1153Q possibly damaging Het
Ly75 A T 2: 60,383,182 L17Q probably null Het
Mc5r T C 18: 68,338,839 F90L probably damaging Het
Olfr1356 A T 10: 78,847,063 M284K probably damaging Het
Olfr175-ps1 A T 16: 58,824,656 S18T probably benign Het
Olfr524 T C 7: 140,202,587 Y61C probably damaging Het
Olfr54 C A 11: 51,027,365 A121D probably damaging Het
Olfr877 A T 9: 37,855,360 I181L probably benign Het
Pi4ka A T 16: 17,325,429 Y6N probably damaging Het
Polr2g C A 19: 8,798,456 probably null Het
Psme3 A G 11: 101,317,654 Q82R probably benign Het
Rab11a G T 9: 64,726,647 T17K possibly damaging Het
Rbm12 A T 2: 156,098,097 L85Q probably damaging Het
Skap1 A T 11: 96,708,686 Y188F probably damaging Het
Tmprss6 A T 15: 78,442,336 F34I probably damaging Het
Trip12 A C 1: 84,794,133 I98S probably benign Het
Ttn T C 2: 76,878,188 probably benign Het
Ube2t A T 1: 134,971,341 K21* probably null Het
Vmn1r216 T C 13: 23,099,477 V110A possibly damaging Het
Vmn2r109 A T 17: 20,540,888 F736I probably benign Het
Vps13c A G 9: 67,937,876 T2081A probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Gba2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Gba2 APN 4 43568477 missense probably damaging 1.00
IGL01577:Gba2 APN 4 43573753 nonsense probably null
IGL02066:Gba2 APN 4 43570175 missense probably benign 0.18
IGL02126:Gba2 APN 4 43567918 critical splice acceptor site probably null
IGL02243:Gba2 APN 4 43568719 missense probably benign 0.13
IGL02567:Gba2 APN 4 43567281 missense probably benign
IGL02628:Gba2 APN 4 43568919 missense probably benign 0.01
IGL02706:Gba2 APN 4 43567257 missense probably benign 0.01
IGL02795:Gba2 APN 4 43578331 missense probably damaging 1.00
R0389:Gba2 UTSW 4 43570832 missense probably damaging 1.00
R0555:Gba2 UTSW 4 43569927 missense probably damaging 1.00
R0650:Gba2 UTSW 4 43570424 unclassified probably null
R1603:Gba2 UTSW 4 43567823 missense probably damaging 1.00
R1628:Gba2 UTSW 4 43570118 missense probably benign 0.00
R1664:Gba2 UTSW 4 43578080 missense probably benign 0.01
R1686:Gba2 UTSW 4 43573869 splice site probably benign
R1730:Gba2 UTSW 4 43578242 missense probably benign 0.01
R2036:Gba2 UTSW 4 43568118 unclassified probably benign
R2061:Gba2 UTSW 4 43574029 nonsense probably null
R2259:Gba2 UTSW 4 43570107 missense probably benign
R2847:Gba2 UTSW 4 43568000 unclassified probably null
R3026:Gba2 UTSW 4 43578308 missense possibly damaging 0.95
R3617:Gba2 UTSW 4 43573803 missense probably damaging 1.00
R4225:Gba2 UTSW 4 43569464 unclassified probably benign
R4346:Gba2 UTSW 4 43571337 missense probably benign 0.04
R4601:Gba2 UTSW 4 43573810 missense probably damaging 1.00
R4611:Gba2 UTSW 4 43568092 missense probably damaging 1.00
R4664:Gba2 UTSW 4 43568619 unclassified probably benign
R4784:Gba2 UTSW 4 43568315 missense probably damaging 1.00
R4785:Gba2 UTSW 4 43568315 missense probably damaging 1.00
R5079:Gba2 UTSW 4 43568640 unclassified probably benign
R5327:Gba2 UTSW 4 43574063 missense probably damaging 1.00
R5746:Gba2 UTSW 4 43568465 unclassified probably null
R6052:Gba2 UTSW 4 43568330 missense probably damaging 1.00
R6485:Gba2 UTSW 4 43574118 missense probably damaging 1.00
R7073:Gba2 UTSW 4 43573753 missense probably damaging 1.00
R7112:Gba2 UTSW 4 43568453 missense probably benign 0.01
R7472:Gba2 UTSW 4 43568967 missense probably benign 0.44
RF007:Gba2 UTSW 4 43569894 missense probably damaging 1.00
Posted On2015-04-16