Mutagenetix > Incidental Mutations

Incidental Mutation 'R7112:Gba2'

551548

Institutional Source

Beutler Lab

Gene Symbol

Gba2

Ensembl Gene

ENSMUSG00000028467

Gene Name

glucosidase beta 2

Synonyms

bile acid

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7112 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43566928-43578873 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43568453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 671 (V671A)

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: V671A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467
AA Change: V671A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000130443

SMART Domains

Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000167751

SMART Domains

Protein: ENSMUSP00000129401
Gene: ENSMUSG00000028466

Domain	Start	End	E-Value	Type
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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	G	T	12: 112,783,119	A1036E		Het
Baz2b	A	T	2: 59,962,184	H533Q	possibly damaging	Het
Bcl2l11	T	A	2: 128,158,315	W193R	probably damaging	Het
Bcl2l12	C	T	7: 44,996,914	G24D	probably damaging	Het
Cacna1b	A	G	2: 24,690,761	V691A	probably damaging	Het
Cdh8	T	C	8: 99,196,352	D304G	probably damaging	Het
Ces3a	A	T	8: 105,057,962	Q525H	probably damaging	Het
Csmd1	C	A	8: 16,101,128	C1391F	probably damaging	Het
Cul7	G	T	17: 46,651,698	G85V	probably damaging	Het
Dnah8	G	A	17: 30,871,392	V4623I	possibly damaging	Het
Dnhd1	T	A	7: 105,713,985	L3918Q	probably damaging	Het
Exoc4	A	T	6: 33,921,488	N881Y	probably damaging	Het
Flt1	G	C	5: 147,603,569	A770G	probably damaging	Het
Fndc5	A	G	4: 129,142,122	N184S	probably benign	Het
Folh1	A	G	7: 86,775,637		probably null	Het
Frem3	A	T	8: 80,612,031	T318S	probably damaging	Het
Gm7102	T	G	19: 61,175,559	D146A	probably damaging	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Jph2	G	A	2: 163,375,784	T324M	probably damaging	Het
Kank4	A	G	4: 98,761,521	V937A	probably damaging	Het
Kdm3a	T	A	6: 71,632,170	E24D	probably benign	Het
Kidins220	T	A	12: 25,004,019	L464Q	probably damaging	Het
Loxhd1	T	A	18: 77,388,514	V1159E	probably damaging	Het
Malrd1	A	G	2: 15,925,176	N1498D	unknown	Het
Mrgprb5	C	T	7: 48,168,907	V27I	probably benign	Het
Mtfr2	A	G	10: 20,357,566	N294D	probably damaging	Het
Muc6	A	T	7: 141,649,277	L498H	probably damaging	Het
N4bp2	A	G	5: 65,790,707	T227A	possibly damaging	Het
Nin	C	T	12: 70,102,799	R12Q		Het
Obscn	G	C	11: 59,029,325	A27G		Het
Olfr284	T	A	15: 98,340,540	M150L	possibly damaging	Het
Olfr582	G	A	7: 103,041,655	D54N	probably damaging	Het
Olfr729	T	G	14: 50,147,935	E313A	probably benign	Het
Olfr746	T	A	14: 50,654,126	D296E	probably benign	Het
Olfr912	T	A	9: 38,582,034	Y252*	probably null	Het
Polr2a	A	G	11: 69,735,309	S1672P	unknown	Het
Qprt	A	G	7: 127,108,189	V245A	probably damaging	Het
Rab11fip5	T	A	6: 85,348,194	E377V	probably damaging	Het
Rere	A	G	4: 150,406,604	T71A	probably benign	Het
Ret	A	T	6: 118,197,102	L11Q	possibly damaging	Het
Rp1	C	T	1: 4,349,018	V624I	probably benign	Het
Scaf8	T	A	17: 3,163,029	L131H	unknown	Het
Scgb2a2	A	G	19: 9,851,657	R58G	probably benign	Het
Scn11a	A	G	9: 119,754,809	I1580T	probably damaging	Het
Slco4c1	T	G	1: 96,841,141	K332T	probably damaging	Het
Sntg1	T	G	1: 8,448,065	Y368S	possibly damaging	Het
Stim1	A	G	7: 102,408,408	T143A	probably benign	Het
Tbr1	A	G	2: 61,811,816	D475G	probably benign	Het
Tcp1	A	G	17: 12,917,873	D47G	probably damaging	Het
Tpgs2	T	C	18: 25,149,137	D119G	probably damaging	Het
Trim40	C	A	17: 36,882,642	R225M	probably null	Het
Tro	GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC	GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC	X: 150,645,856		probably benign	Het
Trpm1	A	T	7: 64,235,845	N870Y	probably damaging	Het
Tsr3	A	G	17: 25,240,471	D47G	probably benign	Het
Vil1	G	A	1: 74,416,002	G38R	probably damaging	Het
Vmn2r91	A	T	17: 18,105,618	Q166L	possibly damaging	Het
Wdr33	C	T	18: 31,893,003	T919I	unknown	Het
Wdr36	T	C	18: 32,839,451	V64A	probably benign	Het
Xpnpep1	T	C	19: 53,010,107	I237V	probably benign	Het
Zfp780b	A	T	7: 27,963,141	I663N	probably damaging	Het
Zfyve9	G	A	4: 108,650,322	A513V	probably benign	Het

Other mutations in Gba2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02474:Gba2	APN	4	43568538	missense	possibly damaging	0.69
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	splice site	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	splice site	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	splice site	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
R7472:Gba2	UTSW	4	43568967	missense	probably benign	0.44
R8220:Gba2	UTSW	4	43568510	missense	probably damaging	1.00
R8315:Gba2	UTSW	4	43569937	frame shift	probably null
R8476:Gba2	UTSW	4	43569944	missense	probably damaging	0.98
R8477:Gba2	UTSW	4	43569944	missense	probably damaging	0.98
R8794:Gba2	UTSW	4	43568077	missense	probably damaging	0.98
R9087:Gba2	UTSW	4	43568304	missense	probably benign	0.09
R9193:Gba2	UTSW	4	43578112	missense	probably benign	0.26
RF007:Gba2	UTSW	4	43569894	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTCTCCTGGACATCTTGG -3'
(R):5'- TAAGGAACGAGAACTGTGTCC -3'

Sequencing Primer
(F):5'- ATCTTGGGCCCCACACAG -3'
(R):5'- TCCAGTATACCAGGGATGTAGCTG -3'

Posted On

2019-05-15