Mutagenetix > Incidental Mutation

Incidental Mutation 'R0389:Gba2'

31454

Institutional Source

Beutler Lab

Gene Symbol

Gba2

Ensembl Gene

ENSMUSG00000028467

Gene Name

glucosidase beta 2

Synonyms

bile acid

MMRRC Submission

038595-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0389 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43566928-43578873 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43570832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 280 (F280Y)

Ref Sequence

ENSEMBL: ENSMUSP00000030189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030189] [ENSMUST00000102944] [ENSMUST00000130443] [ENSMUST00000167751]

AlphaFold

Q69ZF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000030189
AA Change: F280Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467
AA Change: F280Y

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

unknown
Transcript: ENSMUST00000130443
AA Change: F207Y

SMART Domains

Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467
AA Change: F207Y

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: ENSMUST00000138623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152251

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: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.5%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	G	A	3: 121,465,053 (GRCm39)	E30K	unknown	Het
Abi3bp	A	T	16: 56,491,670 (GRCm39)	T1319S	possibly damaging	Het
Adam18	T	C	8: 25,119,653 (GRCm39)		probably null	Het
Adgre1	G	A	17: 57,713,839 (GRCm39)	D175N	possibly damaging	Het
Adgrf1	T	C	17: 43,614,679 (GRCm39)		probably null	Het
Ankhd1	A	G	18: 36,777,652 (GRCm39)	S1612G	possibly damaging	Het
Anks1	A	G	17: 28,214,926 (GRCm39)	R458G	possibly damaging	Het
Cacna1g	C	T	11: 94,350,523 (GRCm39)	V441M	probably damaging	Het
Cadps2	A	T	6: 23,321,781 (GRCm39)	V1037E	possibly damaging	Het
Casz1	T	C	4: 149,033,368 (GRCm39)	V1380A	possibly damaging	Het
Cenpq	T	C	17: 41,244,085 (GRCm39)		probably benign	Het
Chrac1	T	C	15: 72,965,376 (GRCm39)	I93T	possibly damaging	Het
Cntnap2	T	A	6: 45,986,571 (GRCm39)	S359T	probably benign	Het
Col6a6	C	A	9: 105,661,403 (GRCm39)	M235I	probably benign	Het
Crat	T	C	2: 30,293,640 (GRCm39)		probably benign	Het
Cyp1a2	T	C	9: 57,589,308 (GRCm39)	N169D	probably benign	Het
Dennd1c	T	A	17: 57,374,649 (GRCm39)	T499S	probably benign	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Dync2h1	G	T	9: 7,167,244 (GRCm39)		probably null	Het
Eif3h	C	A	15: 51,662,660 (GRCm39)	V129F	probably damaging	Het
Eno2	A	G	6: 124,739,654 (GRCm39)	F380L	probably damaging	Het
Ergic2	T	A	6: 148,084,700 (GRCm39)	I34F	probably benign	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fam185a	C	T	5: 21,664,283 (GRCm39)	T339M	probably damaging	Het
Fam20b	A	T	1: 156,509,023 (GRCm39)	D396E	probably benign	Het
Fasn	G	T	11: 120,707,008 (GRCm39)	D881E	probably damaging	Het
Fat1	C	A	8: 45,403,385 (GRCm39)	H45Q	probably benign	Het
Fbxw16	A	T	9: 109,261,550 (GRCm39)	C439S	probably benign	Het
Garin1a	T	A	6: 29,281,391 (GRCm39)	V43E	possibly damaging	Het
Gfm1	A	G	3: 67,365,251 (GRCm39)	I517V	probably benign	Het
Gng13	C	T	17: 25,937,696 (GRCm39)	Q8*	probably null	Het
Golga1	A	T	2: 38,908,453 (GRCm39)	S749T	probably damaging	Het
Gphn	A	T	12: 78,637,433 (GRCm39)	I381F	probably damaging	Het
Grm3	T	C	5: 9,554,794 (GRCm39)	N833D	probably damaging	Het
Gstt2	G	T	10: 75,668,266 (GRCm39)	T163K	probably damaging	Het
Gusb	A	T	5: 130,026,927 (GRCm39)	V388E	probably damaging	Het
Hcrtr2	A	T	9: 76,153,662 (GRCm39)	Y243*	probably null	Het
Hspg2	A	G	4: 137,242,734 (GRCm39)	T650A	possibly damaging	Het
Ints2	C	T	11: 86,139,677 (GRCm39)	V306I	probably damaging	Het
Itga1	T	A	13: 115,128,996 (GRCm39)	D554V	probably benign	Het
Itgam	C	T	7: 127,680,806 (GRCm39)	A245V	probably damaging	Het
Kcnk15	A	G	2: 163,700,243 (GRCm39)	T161A	probably benign	Het
Klhl18	A	T	9: 110,257,749 (GRCm39)	C564S	probably benign	Het
Krt40	T	A	11: 99,432,540 (GRCm39)	R159*	probably null	Het
L3mbtl4	G	A	17: 68,762,775 (GRCm39)	V103M	probably damaging	Het
Lnx2	C	A	5: 146,955,850 (GRCm39)	V649L	possibly damaging	Het
Lpp	A	T	16: 24,426,991 (GRCm39)	Q39H	probably damaging	Het
Lrpprc	A	T	17: 85,060,540 (GRCm39)		probably null	Het
Map3k19	A	T	1: 127,750,152 (GRCm39)	N1066K	probably benign	Het
Mbtps2	G	T	X: 156,351,364 (GRCm39)	T134K	probably benign	Het
Mfng	C	T	15: 78,648,637 (GRCm39)	V147M	possibly damaging	Het
Mks1	T	C	11: 87,748,754 (GRCm39)	S273P	probably benign	Het
Myh2	T	C	11: 67,071,647 (GRCm39)	L488P	probably damaging	Het
Myo15a	A	G	11: 60,369,364 (GRCm39)	N708S	probably benign	Het
Myo6	A	T	9: 80,199,748 (GRCm39)	N1019I	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Ncoa1	T	G	12: 4,345,976 (GRCm39)	N457T	probably benign	Het
Neb	T	C	2: 52,051,489 (GRCm39)		probably null	Het
Nlrp4e	C	A	7: 23,054,628 (GRCm39)	N927K	probably damaging	Het
Npffr2	T	C	5: 89,730,613 (GRCm39)	M181T	probably benign	Het
Nxf7	A	T	X: 134,485,132 (GRCm39)	C495S	possibly damaging	Het
Oas1g	T	C	5: 121,025,592 (GRCm39)	T12A	probably benign	Het
Or11g2	T	A	14: 50,856,036 (GRCm39)	L119Q	probably damaging	Het
Or1e17	T	A	11: 73,831,879 (GRCm39)	V269E	probably benign	Het
Or2g7	C	G	17: 38,378,562 (GRCm39)	R167G	possibly damaging	Het
Or52s1b	A	T	7: 102,822,490 (GRCm39)	V118E	possibly damaging	Het
Or5p60	A	G	7: 107,724,023 (GRCm39)	V149A	probably benign	Het
Papln	C	T	12: 83,830,153 (GRCm39)	Q1008*	probably null	Het
Pcdhb10	A	C	18: 37,545,485 (GRCm39)	D187A	probably damaging	Het
Phf2	T	A	13: 48,957,965 (GRCm39)	E1016D	unknown	Het
Phf8	T	A	X: 150,335,618 (GRCm39)	D197E	probably benign	Het
Pikfyve	A	G	1: 65,235,865 (GRCm39)	H179R	probably damaging	Het
Prkcz	T	A	4: 155,353,597 (GRCm39)	D250V	probably damaging	Het
Prpf4	A	G	4: 62,340,842 (GRCm39)	Y419C	probably damaging	Het
Prr15l	C	A	11: 96,825,440 (GRCm39)	Y23*	probably null	Het
Prr5	T	A	15: 84,587,152 (GRCm39)	S301T	probably benign	Het
Psg16	T	A	7: 16,829,088 (GRCm39)	I224N	probably benign	Het
Radil	A	G	5: 142,529,226 (GRCm39)	F186L	probably damaging	Het
Reg3g	A	T	6: 78,445,544 (GRCm39)	M1K	probably null	Het
Rps6ka3	A	G	X: 158,100,963 (GRCm39)	Y76C	probably damaging	Het
Rtl1	C	T	12: 109,556,797 (GRCm39)	V1681I	possibly damaging	Het
Sfmbt1	C	T	14: 30,533,464 (GRCm39)	R614C	probably damaging	Het
Slc12a4	A	G	8: 106,678,599 (GRCm39)	S244P	probably benign	Het
Sp140l2	T	A	1: 85,247,773 (GRCm39)	N5Y	probably benign	Het
Sptbn1	T	C	11: 30,089,250 (GRCm39)	T671A	possibly damaging	Het
Supt16	A	T	14: 52,411,570 (GRCm39)	N604K	probably damaging	Het
Synj2	G	A	17: 6,080,058 (GRCm39)	V1096I	probably benign	Het
Tas2r129	G	T	6: 132,928,159 (GRCm39)	C32F	probably benign	Het
Tbc1d25	T	C	X: 8,039,108 (GRCm39)	Y140C	probably damaging	Het
Tdrd7	A	G	4: 46,016,987 (GRCm39)	D709G	probably benign	Het
Tfap2d	C	T	1: 19,174,591 (GRCm39)	R15C	possibly damaging	Het
Tgfbi	C	A	13: 56,777,515 (GRCm39)	T333N	probably benign	Het
Tnk1	T	C	11: 69,746,508 (GRCm39)	Y235C	probably damaging	Het
Ttc17	A	G	2: 94,208,439 (GRCm39)	F144S	probably benign	Het
Twnk	G	T	19: 44,996,578 (GRCm39)	G337V	possibly damaging	Het
Unc13a	A	G	8: 72,110,676 (GRCm39)	F464L	probably benign	Het
Usp17le	C	A	7: 104,417,667 (GRCm39)	A492S	probably damaging	Het
Vmn1r213	A	T	13: 23,195,932 (GRCm39)	M172L	probably benign	Het
Vmn1r71	G	A	7: 10,482,238 (GRCm39)	T84I	probably benign	Het
Vmn2r109	C	T	17: 20,761,336 (GRCm39)	V674M	probably damaging	Het
Vmn2r19	A	T	6: 123,312,945 (GRCm39)	I672F	possibly damaging	Het
Vmn2r77	T	C	7: 86,450,702 (GRCm39)	V196A	probably benign	Het
Xdh	T	A	17: 74,205,357 (GRCm39)	H1036L	probably damaging	Het
Zfp930	T	A	8: 69,680,948 (GRCm39)	Y214*	probably null	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
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
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'- TACAGAGCAGACTTGTCCCTCACC -3'
(R):5'- ACTGCTTCCGAGACTAAGTCGTCC -3'

Sequencing Primer
(F):5'- CCTCACCGTGCATCGTG -3'
(R):5'- GAGACTAAGTCGTCCTAGCTGTC -3'

Posted On

2013-04-24