Incidental Mutation 'R1686:Gba2'
ID 189325
Institutional Source Beutler Lab
Gene Symbol Gba2
Ensembl Gene ENSMUSG00000028467
Gene Name glucosidase beta 2
Synonyms bile acid
MMRRC Submission 039719-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1686 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 43566928-43578873 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 43573869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030189] [ENSMUST00000107886] [ENSMUST00000117140] [ENSMUST00000130443]
AlphaFold Q69ZF3
Predicted Effect probably benign
Transcript: ENSMUST00000030189
SMART Domains Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467

DomainStartEndE-ValueType
Pfam:GBA2_N 142 446 9.4e-106 PFAM
Pfam:DUF608 512 879 1.3e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107886
SMART Domains Protein: ENSMUSP00000103518
Gene: ENSMUSG00000028468

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
low complexity region 63 77 N/A INTRINSIC
Pfam:Rgp1 84 164 3.3e-24 PFAM
Pfam:Rgp1 174 331 4.1e-26 PFAM
low complexity region 333 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117140
SMART Domains Protein: ENSMUSP00000113476
Gene: ENSMUSG00000028468

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
low complexity region 63 77 N/A INTRINSIC
Pfam:Rgp1 84 165 2.9e-24 PFAM
Pfam:Rgp1 173 331 3.5e-26 PFAM
low complexity region 333 347 N/A INTRINSIC
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 noncoding transcript
Transcript: ENSMUST00000139606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152251
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (85/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G A 10: 100,448,722 (GRCm39) V400I probably damaging Het
Abcb1b A G 5: 8,848,782 (GRCm39) N14S probably damaging Het
Adamts14 A G 10: 61,034,439 (GRCm39) Y1150H probably benign Het
Adgrg3 A G 8: 95,759,997 (GRCm39) N72S probably benign Het
Akain1 T A 17: 69,746,527 (GRCm39) F3I possibly damaging Het
Akr1c21 T C 13: 4,627,452 (GRCm39) L182P probably damaging Het
Arhgap21 A T 2: 20,886,659 (GRCm39) Y12N probably damaging Het
Aup1 A T 6: 83,032,226 (GRCm39) H131L probably damaging Het
Bag6 A G 17: 35,363,928 (GRCm39) T812A possibly damaging Het
Bmp2k A G 5: 97,211,392 (GRCm39) Y520C unknown Het
Calm4 T G 13: 3,888,302 (GRCm39) V136G probably damaging Het
Catsper2 A G 2: 121,230,523 (GRCm39) probably null Het
Cc2d2a A G 5: 43,896,713 (GRCm39) T1537A possibly damaging Het
Cntn2 A T 1: 132,454,049 (GRCm39) V319D possibly damaging Het
Cux1 G A 5: 136,304,235 (GRCm39) R1314* probably null Het
Cxcl12 A G 6: 117,150,508 (GRCm39) I79V probably damaging Het
Cyp2j6 T C 4: 96,412,014 (GRCm39) D418G probably benign Het
Ddx28 G C 8: 106,737,190 (GRCm39) D289E probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam135a A C 1: 24,068,887 (GRCm39) S448A probably benign Het
Fbxo33 G T 12: 59,251,626 (GRCm39) N30K possibly damaging Het
Fgf12 A C 16: 28,217,093 (GRCm39) Y21D probably damaging Het
Galntl5 C T 5: 25,415,432 (GRCm39) S288L probably benign Het
Gart G T 16: 91,422,237 (GRCm39) A760D probably damaging Het
Gm10518 C A 1: 179,631,357 (GRCm39) S139* probably null Het
Gm4781 A T 10: 100,232,837 (GRCm39) noncoding transcript Het
Gm9790 A G 3: 85,823,156 (GRCm39) noncoding transcript Het
Gmps G A 3: 63,893,075 (GRCm39) G127R probably damaging Het
Golim4 A T 3: 75,802,443 (GRCm39) V283E probably benign Het
Gprc5a A T 6: 135,055,918 (GRCm39) I122F possibly damaging Het
Gzmc T C 14: 56,471,341 (GRCm39) K67E probably benign Het
Hapln3 C A 7: 78,771,638 (GRCm39) V84L probably benign Het
Hif3a T A 7: 16,778,789 (GRCm39) N377Y possibly damaging Het
Ifi211 G A 1: 173,726,969 (GRCm39) H392Y probably damaging Het
Iqgap3 T A 3: 88,015,663 (GRCm39) probably benign Het
Itga10 T A 3: 96,559,141 (GRCm39) F410Y probably damaging Het
Jup T C 11: 100,263,260 (GRCm39) Y705C probably damaging Het
Khsrp C T 17: 57,332,597 (GRCm39) A228T probably benign Het
Lmntd2 C T 7: 140,790,998 (GRCm39) G445D probably damaging Het
Lyst T C 13: 13,809,290 (GRCm39) V320A possibly damaging Het
Magel2 T A 7: 62,027,988 (GRCm39) H297Q possibly damaging Het
Mbd6 T C 10: 127,123,286 (GRCm39) E33G probably damaging Het
Mob3b A G 4: 34,985,910 (GRCm39) probably benign Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mymk A T 2: 26,952,346 (GRCm39) W174R probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nipal3 T C 4: 135,174,599 (GRCm39) Y384C possibly damaging Het
Nt5c3b A G 11: 100,330,920 (GRCm39) probably benign Het
Obox6 T A 7: 15,567,750 (GRCm39) L232F probably damaging Het
Obscn A C 11: 58,997,113 (GRCm39) probably benign Het
Or7g12 T C 9: 18,899,839 (GRCm39) L185P probably damaging Het
Phkb A G 8: 86,748,278 (GRCm39) I706V probably benign Het
Plcb2 A G 2: 118,546,168 (GRCm39) probably benign Het
Plek2 T C 12: 78,941,184 (GRCm39) D216G probably damaging Het
Plxnb2 T C 15: 89,046,665 (GRCm39) Y855C probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Psma7 A T 2: 179,679,215 (GRCm39) D184E probably benign Het
Rai14 T A 15: 10,592,282 (GRCm39) L204F probably damaging Het
Ralgapa2 A G 2: 146,199,920 (GRCm39) V1208A probably benign Het
Rapgef6 A G 11: 54,582,458 (GRCm39) R67G possibly damaging Het
Ryr2 C T 13: 11,618,665 (GRCm39) probably benign Het
Satb1 T C 17: 52,047,027 (GRCm39) S763G probably benign Het
Sdk1 A T 5: 142,020,292 (GRCm39) H690L probably benign Het
Sfrp5 A C 19: 42,190,143 (GRCm39) V103G possibly damaging Het
Six6 A G 12: 72,988,451 (GRCm39) E208G probably benign Het
Sspo A T 6: 48,437,334 (GRCm39) H1364L probably benign Het
Stard9 A T 2: 120,529,973 (GRCm39) T2077S probably benign Het
Tacr3 T C 3: 134,535,254 (GRCm39) L74P probably damaging Het
Tep1 T C 14: 51,074,245 (GRCm39) E1880G probably benign Het
Tgfb3 A T 12: 86,116,517 (GRCm39) probably benign Het
Thap7 G A 16: 17,346,576 (GRCm39) P136S probably damaging Het
Thoc2l T A 5: 104,667,789 (GRCm39) Y770* probably null Het
Tmc2 T C 2: 130,098,036 (GRCm39) V717A possibly damaging Het
Usp43 T A 11: 67,778,593 (GRCm39) S446C probably damaging Het
Vwa3a C T 7: 120,379,371 (GRCm39) S492L probably damaging Het
Wdhd1 T A 14: 47,493,672 (GRCm39) N16I probably damaging Het
Wdr95 A T 5: 149,516,566 (GRCm39) D327V probably damaging Het
Zfp128 T G 7: 12,624,563 (GRCm39) Y310* probably null 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
IGL02243:Gba2 APN 4 43,568,719 (GRCm39) missense probably benign 0.13
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
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
Predicted Primers PCR Primer
(F):5'- GATGCCTAACTGCCACATCCTATGC -3'
(R):5'- AAGAAGACCCCTTTCATCGACATGC -3'

Sequencing Primer
(F):5'- CTAGCCAAGAGTCACTCCTCTG -3'
(R):5'- TCTACCCCTGAGACAGATCTATG -3'
Posted On 2014-05-14