Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02243:Gba2'

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02243

Quality Score

Status

Chromosome

Chromosomal Location

43566928-43578873 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43568719 bp

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]

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

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

noncoding transcript
Transcript: ENSMUST00000126277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128403

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

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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc2	A	G	10: 80,302,341	Y87C	probably damaging	Het
Armc3	G	A	2: 19,286,137		probably null	Het
Brsk2	T	C	7: 141,993,299	F493S	probably damaging	Het
Cd19	T	C	7: 126,410,793		probably null	Het
Chd2	T	C	7: 73,497,708		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ddx19a	T	G	8: 110,976,456	I450L	probably benign	Het
Edn2	G	A	4: 120,162,032		probably null	Het
Elp2	G	A	18: 24,622,606	R470Q	probably benign	Het
Fhdc1	T	G	3: 84,474,640	M1L	possibly damaging	Het
Glce	A	G	9: 62,070,140	F154S	probably damaging	Het
Gm3476	A	T	14: 6,122,811	C195*	probably null	Het
Hsp90aa1	A	G	12: 110,695,091	S164P	probably damaging	Het
Iqcg	T	C	16: 33,045,592	D127G	probably damaging	Het
Jag2	G	A	12: 112,916,345	T381I	possibly damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Lhx2	T	A	2: 38,353,519		probably benign	Het
Lrrc2	A	T	9: 110,970,057	N158I	probably damaging	Het
M1ap	C	T	6: 83,026,288	P389S	probably damaging	Het
Maats1	T	C	16: 38,341,780		probably benign	Het
Masp2	A	T	4: 148,603,068	D104V	probably benign	Het
Met	G	A	6: 17,549,094	V982I	probably damaging	Het
Msh2	T	A	17: 87,678,368		probably benign	Het
Myh9	A	G	15: 77,767,482	L1509P	probably damaging	Het
Mylk2	A	G	2: 152,920,553	H554R	probably damaging	Het
Oxr1	T	G	15: 41,535,701		probably benign	Het
Pdp1	A	T	4: 11,961,873	V146D	probably benign	Het
Pdzrn4	A	T	15: 92,770,696	M910L	probably benign	Het
Prl2a1	T	C	13: 27,807,417		probably benign	Het
Rapgef6	C	T	11: 54,676,400	P1136S	probably damaging	Het
Rasgef1c	A	T	11: 49,957,390	S69C	possibly damaging	Het
Rnaseh1	C	T	12: 28,655,632	R152W	probably damaging	Het
Sele	T	C	1: 164,052,968	V373A	probably benign	Het
Tmem67	G	A	4: 12,070,584	S314L	possibly damaging	Het
Traf4	T	C	11: 78,160,517	E271G	probably benign	Het
Trim39	T	C	17: 36,260,384	D494G	probably damaging	Het
Virma	G	A	4: 11,546,031	R1673Q	probably damaging	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
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
R7112:Gba2	UTSW	4	43568453	missense	probably benign	0.01
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
RF007:Gba2	UTSW	4	43569894	missense	probably damaging	1.00

Posted On

2015-04-16