Mutagenetix > Incidental Mutation

Incidental Mutation 'R1664:Gba2'

186998

Institutional Source

Beutler Lab

Gene Symbol

Gba2

Ensembl Gene

ENSMUSG00000028467

Gene Name

glucosidase beta 2

Synonyms

bile acid

MMRRC Submission

039700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43566928-43578873 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43578080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 90 (R90G)

Ref Sequence

ENSEMBL: ENSMUSP00000119589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030189] [ENSMUST00000030190] [ENSMUST00000107886] [ENSMUST00000117140] [ENSMUST00000130443]

AlphaFold

Q69ZF3

Predicted Effect

probably benign
Transcript: ENSMUST00000030189
AA Change: R90G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467
AA Change: R90G

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: ENSMUST00000030190

SMART Domains

Protein: ENSMUSP00000030190
Gene: ENSMUSG00000028468

Domain	Start	End	E-Value	Type
low complexity region	34	47	N/A	INTRINSIC
Pfam:Rgp1	66	212	3.4e-34	PFAM
Pfam:Rgp1	182	332	1.2e-41	PFAM
low complexity region	333	347	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107886

SMART Domains

Protein: ENSMUSP00000103518
Gene: ENSMUSG00000028468

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
AA Change: R90G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467
AA Change: R90G

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

noncoding transcript
Transcript: ENSMUST00000131178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141612

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	A	14: 35,533,772 (GRCm39)	T45S	probably benign	Het
Ackr1	A	G	1: 173,160,433 (GRCm39)	F29L	probably benign	Het
Adgrf2	T	A	17: 43,025,305 (GRCm39)	S60C	possibly damaging	Het
Alpk2	A	G	18: 65,482,944 (GRCm39)	C355R	probably damaging	Het
Ankmy1	A	C	1: 92,812,913 (GRCm39)	D465E	probably benign	Het
Ankrd27	T	A	7: 35,306,551 (GRCm39)	D310E	probably damaging	Het
Ap3d1	G	A	10: 80,553,571 (GRCm39)	Q559*	probably null	Het
C4b	T	C	17: 34,951,952 (GRCm39)	T1298A	probably damaging	Het
Casr	T	A	16: 36,330,327 (GRCm39)	K336*	probably null	Het
Ccdc116	A	T	16: 16,960,492 (GRCm39)	D108E	probably benign	Het
Ccdc168	T	A	1: 44,098,387 (GRCm39)	I904F	possibly damaging	Het
Ccr7	A	T	11: 99,036,517 (GRCm39)	I135N	possibly damaging	Het
Cd96	A	G	16: 45,938,364 (GRCm39)	Y34H	possibly damaging	Het
Cdan1	T	A	2: 120,550,987 (GRCm39)	D1135V	probably damaging	Het
Cecr2	C	A	6: 120,738,987 (GRCm39)	T1210K	probably damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Chd9	T	G	8: 91,749,418 (GRCm39)		probably null	Het
Cntnap5c	G	T	17: 58,600,985 (GRCm39)	W776L	probably benign	Het
Col24a1	G	A	3: 145,095,355 (GRCm39)		probably null	Het
Cpa2	G	T	6: 30,554,314 (GRCm39)	M311I	probably damaging	Het
Cpz	A	G	5: 35,664,087 (GRCm39)	F483L	probably damaging	Het
Ddx19a	A	C	8: 111,716,130 (GRCm39)	V90G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw7	A	G	3: 84,876,478 (GRCm39)	D213G	possibly damaging	Het
Fgd2	T	C	17: 29,588,273 (GRCm39)	F362L	probably damaging	Het
Fryl	A	G	5: 73,216,778 (GRCm39)	Y2171H	probably damaging	Het
Gm10073	T	C	8: 107,299,864 (GRCm39)	E40G	probably damaging	Het
Grhl3	T	C	4: 135,279,861 (GRCm39)	I398V	probably benign	Het
Grip2	T	A	6: 91,742,233 (GRCm39)	H899L	probably damaging	Het
Grk2	T	C	19: 4,337,268 (GRCm39)	K644E	possibly damaging	Het
Iars1	A	T	13: 49,865,251 (GRCm39)	T576S	probably damaging	Het
Kif26b	G	A	1: 178,759,704 (GRCm39)	V2084M	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc69	G	A	4: 14,775,079 (GRCm39)	T63M	probably damaging	Het
Lrrn4	A	T	2: 132,711,886 (GRCm39)	C646S	probably damaging	Het
Mtf2	C	T	5: 108,252,342 (GRCm39)	T457M	probably damaging	Het
Ncln	A	T	10: 81,323,555 (GRCm39)	C531S	probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or14j8	T	C	17: 38,263,784 (GRCm39)	I44V	probably benign	Het
Or5v1	C	T	17: 37,810,316 (GRCm39)	T258M	possibly damaging	Het
Or8c11	A	T	9: 38,289,548 (GRCm39)	M124L	possibly damaging	Het
Otogl	A	G	10: 107,642,437 (GRCm39)	V1331A	probably benign	Het
Palb2	A	G	7: 121,723,615 (GRCm39)		probably benign	Het
Pcdh20	T	C	14: 88,705,758 (GRCm39)	E514G	possibly damaging	Het
Pclaf	A	G	9: 65,797,730 (GRCm39)	N7S	probably benign	Het
Pdrg1	C	T	2: 152,857,248 (GRCm39)		probably benign	Het
Phf8-ps	T	A	17: 33,285,492 (GRCm39)	I437F	probably damaging	Het
Pik3r6	T	A	11: 68,426,932 (GRCm39)	D464E	probably benign	Het
Pkp3	A	G	7: 140,667,560 (GRCm39)	N454D	probably damaging	Het
Plekha7	C	A	7: 115,734,269 (GRCm39)		probably null	Het
Ppip5k1	A	G	2: 121,167,663 (GRCm39)	V784A	probably benign	Het
Ppp1r36	T	A	12: 76,483,028 (GRCm39)	D205E	possibly damaging	Het
Prss35	A	T	9: 86,637,700 (GRCm39)	T157S	probably benign	Het
Ptprn2	T	C	12: 117,125,329 (GRCm39)	L621P	probably damaging	Het
Rasgrp3	A	G	17: 75,831,172 (GRCm39)	K524R	probably damaging	Het
Rasgrp4	T	A	7: 28,839,688 (GRCm39)	H133Q	probably benign	Het
Reln	A	T	5: 22,134,084 (GRCm39)	Y2615N	probably damaging	Het
Rpf1	T	A	3: 146,217,903 (GRCm39)	T204S	probably benign	Het
Scgb2b3	T	A	7: 31,058,464 (GRCm39)	*113L	probably null	Het
Scn5a	A	C	9: 119,350,243 (GRCm39)	L877R	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,256,821 (GRCm39)	D632E	probably benign	Het
Slc39a10	T	C	1: 46,865,269 (GRCm39)	H522R	probably damaging	Het
Spink2	A	T	5: 77,354,855 (GRCm39)	C19S	probably damaging	Het
Spsb4	A	G	9: 96,878,266 (GRCm39)	L19P	possibly damaging	Het
St7l	T	C	3: 104,778,214 (GRCm39)	V117A	probably damaging	Het
Stac2	C	T	11: 97,933,420 (GRCm39)	S174N	probably damaging	Het
Sult4a1	A	G	15: 83,970,818 (GRCm39)	Y196H	probably benign	Het
Tex2	C	T	11: 106,458,608 (GRCm39)		probably benign	Het
Tprg1l	A	T	4: 154,243,862 (GRCm39)	V98D	possibly damaging	Het
Ttn	G	A	2: 76,548,369 (GRCm39)	H31978Y	probably damaging	Het
Ttn	T	C	2: 76,658,853 (GRCm39)		probably benign	Het
Tyk2	C	A	9: 21,031,649 (GRCm39)	R447L	probably damaging	Het
Ucn3	T	C	13: 3,991,634 (GRCm39)	Y6C	possibly damaging	Het
Urb1	A	T	16: 90,584,970 (GRCm39)		probably null	Het
Vmn2r94	G	C	17: 18,464,406 (GRCm39)	A628G	probably damaging	Het
Wdr95	C	A	5: 149,518,752 (GRCm39)	T389K	probably damaging	Het
Wrn	A	T	8: 33,770,794 (GRCm39)		probably null	Het
Xab2	T	A	8: 3,669,068 (GRCm39)		probably null	Het
Zfp458	A	T	13: 67,406,144 (GRCm39)	N95K	possibly damaging	Het
Zfp672	T	C	11: 58,208,138 (GRCm39)	H61R	probably damaging	Het
Zfp942	C	T	17: 22,147,420 (GRCm39)	G403E	possibly damaging	Het

Other mutations in Gba2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TGCTCCGAGAAGACAAGATGCTAGG -3'
(R):5'- ATAGTGGACCCCAGGATGAACCAAG -3'

Sequencing Primer
(F):5'- ACAAAATGTTCTTCAGTTCCACC -3'
(R):5'- GCTACTGCAATTCAGAGGACTC -3'

Posted On

2014-05-09