Mutagenetix > Incidental Mutation

Incidental Mutation 'R9087:Gba2'

690662

Institutional Source

Beutler Lab

Gene Symbol

Gba2

Ensembl Gene

ENSMUSG00000028467

Gene Name

glucosidase beta 2

Synonyms

bile acid

MMRRC Submission

068906-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9087 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43566928-43578873 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43568304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 688 (A688T)

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: A688T

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467
AA Change: A688T

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: 99.6%
20x: 98.6%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,169 (GRCm39)	D180G	probably damaging	Het
Abcb6	A	T	1: 75,150,211 (GRCm39)	I649K	probably damaging	Het
Ace	T	C	11: 105,872,745 (GRCm39)	F969S	probably damaging	Het
Ankrd26	A	G	6: 118,536,230 (GRCm39)		probably null	Het
Apobec1	A	T	6: 122,558,700 (GRCm39)	L9*	probably null	Het
Atp13a1	A	G	8: 70,256,457 (GRCm39)	D865G	probably damaging	Het
Barhl1	T	C	2: 28,805,231 (GRCm39)	Y154C	probably damaging	Het
Bbx	T	C	16: 50,094,998 (GRCm39)	D106G	probably damaging	Het
Cacna1a	G	A	8: 85,365,432 (GRCm39)	A2192T	probably benign	Het
Cacnb1	T	C	11: 97,893,833 (GRCm39)	N563S	possibly damaging	Het
Capn5	A	T	7: 97,775,531 (GRCm39)	I470N	probably damaging	Het
Cd300c	T	C	11: 114,850,591 (GRCm39)	T71A	probably damaging	Het
Celf4	T	A	18: 25,637,327 (GRCm39)	S223C	probably damaging	Het
Cftr	A	C	6: 18,214,180 (GRCm39)	I119L	possibly damaging	Het
Cmya5	T	C	13: 93,233,711 (GRCm39)	E459G	possibly damaging	Het
Cntn2	A	G	1: 132,453,108 (GRCm39)	Y395H	probably damaging	Het
Cntnap3	T	C	13: 64,899,532 (GRCm39)	D987G	probably damaging	Het
Col5a2	T	A	1: 45,481,818 (GRCm39)	D102V	unknown	Het
Cpeb2	T	C	5: 43,438,461 (GRCm39)	F812L		Het
Cpsf3	T	A	12: 21,358,995 (GRCm39)	L565Q	probably damaging	Het
Ctnnd1	A	C	2: 84,439,922 (GRCm39)	L796R	probably damaging	Het
Dach1	A	G	14: 98,406,267 (GRCm39)	L160P	probably benign	Het
Dennd1a	A	C	2: 37,911,366 (GRCm39)		probably null	Het
Dnah12	T	C	14: 26,546,503 (GRCm39)	I2431T	probably damaging	Het
Ep400	A	T	5: 110,815,430 (GRCm39)	Y2887*	probably null	Het
Erich1	T	C	8: 14,083,623 (GRCm39)	D149G	probably damaging	Het
Fut2	T	C	7: 45,300,493 (GRCm39)	N93S	probably damaging	Het
Gcm2	C	G	13: 41,263,406 (GRCm39)	E9Q		Het
Gfod1	T	C	13: 43,353,838 (GRCm39)	E379G	probably damaging	Het
Gfod2	A	G	8: 106,454,851 (GRCm39)	F10L	probably damaging	Het
Gm4871	T	G	5: 144,969,088 (GRCm39)	H75P	possibly damaging	Het
Gtpbp3	T	A	8: 71,944,999 (GRCm39)	V418E	probably benign	Het
Hif1a	T	A	12: 73,989,099 (GRCm39)	I688K	probably benign	Het
Ifi44	G	T	3: 151,451,517 (GRCm39)	S196R	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kl	A	G	5: 150,911,957 (GRCm39)	K569E	probably benign	Het
Klkb1	G	A	8: 45,728,515 (GRCm39)	Q415*	probably null	Het
L1td1	A	G	4: 98,624,699 (GRCm39)	D298G	possibly damaging	Het
L2hgdh	C	T	12: 69,749,131 (GRCm39)	R252Q	probably benign	Het
Lipc	C	G	9: 70,709,390 (GRCm39)	K452N	probably benign	Het
Lrp10	C	A	14: 54,705,621 (GRCm39)	S270R	probably damaging	Het
Ly6e	T	G	15: 74,829,649 (GRCm39)	L14R	probably benign	Het
Mast3	T	C	8: 71,242,330 (GRCm39)	D90G	possibly damaging	Het
Mmp27	T	C	9: 7,579,858 (GRCm39)	F444S	probably damaging	Het
Mrgpra2b	A	T	7: 47,114,518 (GRCm39)	N71K	probably benign	Het
Nbea	C	A	3: 55,550,157 (GRCm39)		probably null	Het
Ndufb10	A	G	17: 24,943,159 (GRCm39)		probably null	Het
Ndufb9	C	T	15: 58,811,151 (GRCm39)	P146S	probably benign	Het
Nhsl1	T	C	10: 18,407,030 (GRCm39)	V1388A	probably damaging	Het
Nomo1	C	A	7: 45,732,748 (GRCm39)	D1170E	probably benign	Het
Nop2	G	T	6: 125,114,391 (GRCm39)	R254L	probably benign	Het
Nup160	A	T	2: 90,514,429 (GRCm39)	T126S	probably benign	Het
Opa1	A	G	16: 29,437,053 (GRCm39)	D654G	probably damaging	Het
Or1j15	T	C	2: 36,459,345 (GRCm39)	L245P	probably damaging	Het
Or2j6	A	T	7: 139,980,547 (GRCm39)	C137*	probably null	Het
Or51h1	A	G	7: 102,308,964 (GRCm39)	K312R	probably benign	Het
Or52e8b	C	T	7: 104,673,910 (GRCm39)	W92*	probably null	Het
Or5aq1b	A	G	2: 86,902,299 (GRCm39)	Y60H	probably damaging	Het
Or5p68	A	G	7: 107,945,958 (GRCm39)	S77P	probably damaging	Het
Or8b52	A	G	9: 38,576,711 (GRCm39)	L143P	probably damaging	Het
Or8k18	A	G	2: 86,085,380 (GRCm39)	M219T	probably benign	Het
Osbp2	T	A	11: 3,667,976 (GRCm39)	D7V	probably damaging	Het
Osr2	A	T	15: 35,301,010 (GRCm39)	I189F	probably damaging	Het
Pdlim5	A	G	3: 142,058,594 (GRCm39)	V50A	possibly damaging	Het
Pik3r3	A	G	4: 116,148,931 (GRCm39)	N334S	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppfia4	A	G	1: 134,240,326 (GRCm39)	I889T	probably damaging	Het
Prpf38b	T	C	3: 108,811,657 (GRCm39)	K403E	unknown	Het
Rgs20	T	G	1: 4,994,190 (GRCm39)	E31A	possibly damaging	Het
Rpl11	A	T	4: 135,780,000 (GRCm39)	M12K	possibly damaging	Het
Rreb1	C	A	13: 38,115,644 (GRCm39)	T1001K	probably benign	Het
Ruvbl1	A	G	6: 88,474,355 (GRCm39)	K453E	probably benign	Het
Sdc4	A	T	2: 164,270,959 (GRCm39)	V100D	probably benign	Het
Simc1	C	A	13: 54,672,147 (GRCm39)	T165K	probably benign	Het
Slc2a3	A	G	6: 122,717,408 (GRCm39)	V16A	probably benign	Het
Smbd1	A	T	16: 32,627,130 (GRCm39)	S53T	possibly damaging	Het
Smndc1	A	T	19: 53,372,074 (GRCm39)	N113K	possibly damaging	Het
Tas2r139	T	G	6: 42,118,168 (GRCm39)	F100C	probably damaging	Het
Tubgcp5	A	G	7: 55,467,106 (GRCm39)	Y692C	probably damaging	Het
Ube2d2a	T	C	18: 35,933,197 (GRCm39)	I78T	probably benign	Het
Ugt2b37	C	T	5: 87,401,996 (GRCm39)	V212I	probably benign	Het
Wars2	A	G	3: 99,124,063 (GRCm39)	D308G	possibly damaging	Het
Yeats2	G	A	16: 20,030,500 (GRCm39)		probably null	Het
Zfp385a	G	T	15: 103,224,318 (GRCm39)	H219N	possibly damaging	Het
Zfp407	T	C	18: 84,227,982 (GRCm39)	T1876A	probably 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
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
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'- ATGATGCTCCGAGACTGAGG -3'
(R):5'- CCAGACCTATGATGCATGGG -3'

Sequencing Primer
(F):5'- AGTTGTAATAGCGTCCTGGAATAG -3'
(R):5'- CCTATGATGCATGGGTCACC -3'

Posted On

2021-12-30