Incidental Mutation 'IGL02243:Gba2'
ID 286052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gba2
Ensembl Gene ENSMUSG00000028467
Gene Name glucosidase beta 2
Synonyms bile acid
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02243
Quality Score
Status
Chromosome 4
Chromosomal Location 43566928-43578873 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43568719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 619 (I619N)
Ref Sequence ENSEMBL: ENSMUSP00000030189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030189] [ENSMUST00000102944] [ENSMUST00000130443] [ENSMUST00000132631] [ENSMUST00000167751]
AlphaFold Q69ZF3
Predicted Effect probably benign
Transcript: ENSMUST00000030189
AA Change: I619N

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467
AA Change: I619N

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: ENSMUST00000139606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144968
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Other mutations in Gba2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Gba2 APN 4 43,568,477 (GRCm39) missense probably damaging 1.00
IGL01577:Gba2 APN 4 43,573,753 (GRCm39) nonsense probably null
IGL02066:Gba2 APN 4 43,570,175 (GRCm39) missense probably benign 0.18
IGL02126:Gba2 APN 4 43,567,918 (GRCm39) critical splice acceptor site probably null
IGL02474:Gba2 APN 4 43,568,538 (GRCm39) missense possibly damaging 0.69
IGL02567:Gba2 APN 4 43,567,281 (GRCm39) missense probably benign
IGL02628:Gba2 APN 4 43,568,919 (GRCm39) missense probably benign 0.01
IGL02706:Gba2 APN 4 43,567,257 (GRCm39) missense probably benign 0.01
IGL02795:Gba2 APN 4 43,578,331 (GRCm39) missense probably damaging 1.00
R0389:Gba2 UTSW 4 43,570,832 (GRCm39) missense probably damaging 1.00
R0555:Gba2 UTSW 4 43,569,927 (GRCm39) missense probably damaging 1.00
R0650:Gba2 UTSW 4 43,570,424 (GRCm39) splice site probably null
R1603:Gba2 UTSW 4 43,567,823 (GRCm39) missense probably damaging 1.00
R1628:Gba2 UTSW 4 43,570,118 (GRCm39) missense probably benign 0.00
R1664:Gba2 UTSW 4 43,578,080 (GRCm39) missense probably benign 0.01
R1686:Gba2 UTSW 4 43,573,869 (GRCm39) splice site probably benign
R1730:Gba2 UTSW 4 43,578,242 (GRCm39) missense probably benign 0.01
R2036:Gba2 UTSW 4 43,568,118 (GRCm39) unclassified probably benign
R2061:Gba2 UTSW 4 43,574,029 (GRCm39) nonsense probably null
R2259:Gba2 UTSW 4 43,570,107 (GRCm39) missense probably benign
R2847:Gba2 UTSW 4 43,568,000 (GRCm39) splice site probably null
R3026:Gba2 UTSW 4 43,578,308 (GRCm39) missense possibly damaging 0.95
R3617:Gba2 UTSW 4 43,573,803 (GRCm39) missense probably damaging 1.00
R4225:Gba2 UTSW 4 43,569,464 (GRCm39) unclassified probably benign
R4346:Gba2 UTSW 4 43,571,337 (GRCm39) missense probably benign 0.04
R4601:Gba2 UTSW 4 43,573,810 (GRCm39) missense probably damaging 1.00
R4611:Gba2 UTSW 4 43,568,092 (GRCm39) missense probably damaging 1.00
R4664:Gba2 UTSW 4 43,568,619 (GRCm39) unclassified probably benign
R4784:Gba2 UTSW 4 43,568,315 (GRCm39) missense probably damaging 1.00
R4785:Gba2 UTSW 4 43,568,315 (GRCm39) missense probably damaging 1.00
R5079:Gba2 UTSW 4 43,568,640 (GRCm39) unclassified probably benign
R5327:Gba2 UTSW 4 43,574,063 (GRCm39) missense probably damaging 1.00
R5746:Gba2 UTSW 4 43,568,465 (GRCm39) splice site probably null
R6052:Gba2 UTSW 4 43,568,330 (GRCm39) missense probably damaging 1.00
R6485:Gba2 UTSW 4 43,574,118 (GRCm39) missense probably damaging 1.00
R7073:Gba2 UTSW 4 43,573,753 (GRCm39) missense probably damaging 1.00
R7112:Gba2 UTSW 4 43,568,453 (GRCm39) missense probably benign 0.01
R7472:Gba2 UTSW 4 43,568,967 (GRCm39) missense probably benign 0.44
R8220:Gba2 UTSW 4 43,568,510 (GRCm39) missense probably damaging 1.00
R8315:Gba2 UTSW 4 43,569,937 (GRCm39) frame shift probably null
R8476:Gba2 UTSW 4 43,569,944 (GRCm39) missense probably damaging 0.98
R8477:Gba2 UTSW 4 43,569,944 (GRCm39) missense probably damaging 0.98
R8794:Gba2 UTSW 4 43,568,077 (GRCm39) missense probably damaging 0.98
R9087:Gba2 UTSW 4 43,568,304 (GRCm39) missense probably benign 0.09
R9193:Gba2 UTSW 4 43,578,112 (GRCm39) missense probably benign 0.26
R9753:Gba2 UTSW 4 43,568,716 (GRCm39) missense probably damaging 1.00
RF007:Gba2 UTSW 4 43,569,894 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16