Mutagenetix > Incidental Mutation

Incidental Mutation 'R2061:Gba2'

332087

Institutional Source

Beutler Lab

Gene Symbol

Gba2

Ensembl Gene

ENSMUSG00000028467

Gene Name

glucosidase beta 2

Synonyms

bile acid

MMRRC Submission

040066-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43566928-43578873 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 43574029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 141 (Y141*)

Ref Sequence

ENSEMBL: ENSMUSP00000119589 (fasta)

Gene Model

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

AlphaFold

Q69ZF3

Predicted Effect

probably null
Transcript: ENSMUST00000030189
AA Change: Y141*

SMART Domains

Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467
AA Change: Y141*

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 null
Transcript: ENSMUST00000130443
AA Change: Y141*

SMART Domains

Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467
AA Change: Y141*

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: ENSMUST00000144968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135895

Meta Mutation Damage Score

0.9753

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (124/125)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,502,412 (GRCm39)	S191P	probably damaging	Het
Ak2	C	T	4: 128,901,990 (GRCm39)	A221V	probably damaging	Het
Akap9	T	A	5: 4,011,010 (GRCm39)	V571E	probably damaging	Het
Amph	G	T	13: 19,309,205 (GRCm39)	E428*	probably null	Het
Armh3	C	T	19: 45,967,106 (GRCm39)	R12Q	probably damaging	Het
Arnt2	T	A	7: 83,993,078 (GRCm39)	D154V	probably damaging	Het
Arrdc1	G	A	2: 24,816,364 (GRCm39)	Q202*	probably null	Het
Ate1	A	G	7: 130,112,643 (GRCm39)	C72R	probably damaging	Het
Atox1	A	G	11: 55,345,724 (GRCm39)	V22A	possibly damaging	Het
Bbs12	A	T	3: 37,373,215 (GRCm39)	M3L	probably damaging	Het
Bfsp1	A	G	2: 143,704,598 (GRCm39)	V85A	probably benign	Het
Bltp2	T	A	11: 78,159,575 (GRCm39)	C541*	probably null	Het
Caskin2	C	A	11: 115,694,456 (GRCm39)	V382F	probably benign	Het
Ccdc39	T	A	3: 33,874,045 (GRCm39)	M596L	probably damaging	Het
Cd22	C	T	7: 30,569,530 (GRCm39)	V529M	probably damaging	Het
Cd22	A	C	7: 30,575,581 (GRCm39)	Y154D	probably benign	Het
Cdadc1	T	A	14: 59,818,783 (GRCm39)	E348D	probably damaging	Het
Cdhr2	T	C	13: 54,868,631 (GRCm39)	V531A	probably damaging	Het
Cdk11b	A	G	4: 155,726,061 (GRCm39)		probably benign	Het
Cebpa	G	T	7: 34,818,947 (GRCm39)	R35L	probably damaging	Het
Chat	T	C	14: 32,168,830 (GRCm39)	N235S	probably benign	Het
Col12a1	T	A	9: 79,524,987 (GRCm39)	I2725F	possibly damaging	Het
Cracr2b	A	G	7: 141,045,193 (GRCm39)	E231G	probably damaging	Het
Cryaa	G	T	17: 31,900,029 (GRCm39)	A151S	probably benign	Het
Cspg4b	T	A	13: 113,454,628 (GRCm39)	W225R	probably damaging	Het
Dab1	A	T	4: 104,535,938 (GRCm39)	I116F	probably damaging	Het
Ddx43	C	A	9: 78,303,386 (GRCm39)	N75K	probably benign	Het
Dmbt1	T	G	7: 130,700,863 (GRCm39)	C1014G	possibly damaging	Het
Dner	C	A	1: 84,383,710 (GRCm39)	C558F	probably damaging	Het
Dsc2	A	G	18: 20,165,456 (GRCm39)	V839A	possibly damaging	Het
Dsg3	C	T	18: 20,660,794 (GRCm39)	R378*	probably null	Het
Ecpas	G	T	4: 58,824,270 (GRCm39)	P1116T	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Epha6	T	C	16: 59,476,160 (GRCm39)	M1069V	probably damaging	Het
F930017D23Rik	A	C	10: 43,480,416 (GRCm39)		noncoding transcript	Het
Faf1	A	T	4: 109,568,005 (GRCm39)	N22Y	probably damaging	Het
Flrt3	A	T	2: 140,503,373 (GRCm39)	V85E	probably damaging	Het
Gadl1	T	A	9: 115,770,448 (GRCm39)	I87N	probably damaging	Het
Galnt14	A	G	17: 73,819,148 (GRCm39)	F314S	probably damaging	Het
Gdap1	A	T	1: 17,215,689 (GRCm39)		probably benign	Het
Gfod1	A	T	13: 43,456,719 (GRCm39)		probably null	Het
Gm14295	C	T	2: 176,502,474 (GRCm39)	R655*	probably null	Het
Gm4353	A	G	7: 115,682,934 (GRCm39)	S216P	probably damaging	Het
Gm6605	T	A	7: 38,147,706 (GRCm39)		noncoding transcript	Het
Hectd1	A	T	12: 51,841,227 (GRCm39)	D634E	probably damaging	Het
Helz2	A	G	2: 180,882,337 (GRCm39)	I152T	probably damaging	Het
Hivep1	A	G	13: 42,313,600 (GRCm39)	K1947E	possibly damaging	Het
Ifrd1	A	T	12: 40,263,244 (GRCm39)	F144L	probably benign	Het
Inhca	T	C	9: 103,145,513 (GRCm39)	M395V	probably benign	Het
Itgae	A	T	11: 73,009,448 (GRCm39)	Q544L	probably benign	Het
Jmjd1c	A	T	10: 67,054,205 (GRCm39)	E323D	probably damaging	Het
Kdm5a	G	T	6: 120,358,578 (GRCm39)	R207L	probably benign	Het
Kif5b	C	T	18: 6,226,377 (GRCm39)		probably null	Het
Lbp	T	C	2: 158,166,499 (GRCm39)	V351A	probably benign	Het
Lss	A	T	10: 76,381,932 (GRCm39)		probably null	Het
Madd	A	C	2: 90,991,831 (GRCm39)		probably benign	Het
Map6	G	A	7: 98,966,679 (GRCm39)	V503I	probably damaging	Het
Mark1	A	G	1: 184,660,260 (GRCm39)	L22P	probably damaging	Het
Mcfd2	T	C	17: 87,563,404 (GRCm39)	N130D	probably damaging	Het
Mcm3ap	A	G	10: 76,305,902 (GRCm39)	N5S	probably benign	Het
Mdm4	A	T	1: 132,940,389 (GRCm39)	F48I	probably damaging	Het
Mga	A	T	2: 119,795,461 (GRCm39)		probably benign	Het
Mknk2	A	T	10: 80,507,391 (GRCm39)		probably null	Het
Mmp15	T	C	8: 96,097,407 (GRCm39)	Y459H	possibly damaging	Het
Mthfd1l	A	G	10: 4,053,288 (GRCm39)	K879R	probably benign	Het
Mycbp2	T	C	14: 103,524,696 (GRCm39)	K655E	probably damaging	Het
Nasp	T	C	4: 116,468,323 (GRCm39)	N221D	probably benign	Het
Ndc80	T	C	17: 71,821,213 (GRCm39)	E245G	probably benign	Het
Nmral1	C	T	16: 4,534,193 (GRCm39)	E83K	probably damaging	Het
Noa1	T	A	5: 77,452,034 (GRCm39)	Q550L	possibly damaging	Het
Nutm1	A	T	2: 112,086,097 (GRCm39)	Y211*	probably null	Het
Or10n1	G	T	9: 39,525,071 (GRCm39)	M69I	probably benign	Het
Or10v1	T	A	19: 11,873,921 (GRCm39)	Y179N	probably damaging	Het
Or2ag18	A	C	7: 106,404,975 (GRCm39)	H231Q	probably benign	Het
Or4l1	T	C	14: 50,166,478 (GRCm39)	I174M	possibly damaging	Het
Or5b118	A	G	19: 13,448,605 (GRCm39)	I90M	probably damaging	Het
Otoa	T	C	7: 120,730,551 (GRCm39)	F584L	probably damaging	Het
Palb2	G	A	7: 121,723,748 (GRCm39)	T304I	possibly damaging	Het
Pcolce2	A	T	9: 95,552,229 (GRCm39)	M121L	probably benign	Het
Pcsk5	T	C	19: 17,432,236 (GRCm39)	T1460A	probably benign	Het
Pdzrn4	A	T	15: 92,668,041 (GRCm39)	D731V	probably damaging	Het
Pex11b	C	A	3: 96,543,037 (GRCm39)	Q12K	possibly damaging	Het
Pigw	G	C	11: 84,768,136 (GRCm39)	Q398E	probably benign	Het
Pkd1	A	G	17: 24,788,888 (GRCm39)	E882G	possibly damaging	Het
Pkhd1	A	T	1: 20,683,036 (GRCm39)	N55K	possibly damaging	Het
Plch2	A	T	4: 155,127,298 (GRCm39)		probably benign	Het
Plcl1	T	A	1: 55,790,504 (GRCm39)	L1058Q	probably benign	Het
Ppfia2	T	C	10: 106,673,190 (GRCm39)	S511P	possibly damaging	Het
Ppfibp2	T	C	7: 107,338,437 (GRCm39)	L676P	probably damaging	Het
Ppp6c	T	G	2: 39,116,186 (GRCm39)	D23A	probably damaging	Het
Prss30	G	A	17: 24,193,642 (GRCm39)		probably benign	Het
Ptprz1	T	C	6: 23,049,674 (GRCm39)		probably null	Het
Rec114	T	A	9: 58,560,188 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,680,764 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,493,349 (GRCm39)	I3715N	possibly damaging	Het
Scin	T	C	12: 40,130,947 (GRCm39)	Y322C	probably damaging	Het
Scn3a	A	G	2: 65,291,652 (GRCm39)	V1698A	probably damaging	Het
Scn5a	G	A	9: 119,314,717 (GRCm39)	S1996L	probably damaging	Het
Serpinb2	A	G	1: 107,450,525 (GRCm39)	K174R	possibly damaging	Het
Slc16a4	T	C	3: 107,208,027 (GRCm39)	I179T	probably benign	Het
Slc35b1	T	G	11: 95,276,718 (GRCm39)	F102V	possibly damaging	Het
Slc66a2	G	T	18: 80,334,930 (GRCm39)	A232S	probably benign	Het
Slc6a15	A	G	10: 103,245,595 (GRCm39)	D526G	probably benign	Het
Spata16	A	G	3: 26,978,519 (GRCm39)	D495G	probably damaging	Het
Stk11ip	G	A	1: 75,506,228 (GRCm39)	E583K	possibly damaging	Het
Stk-ps1	T	G	17: 36,709,044 (GRCm39)		noncoding transcript	Het
Sufu	T	A	19: 46,385,651 (GRCm39)	I37N	probably damaging	Het
Tacr1	C	T	6: 82,469,535 (GRCm39)	P140S	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tenm3	C	T	8: 48,795,291 (GRCm39)		probably null	Het
Tex36	A	T	7: 133,196,952 (GRCm39)	I55N	probably damaging	Het
Tmem150c	T	C	5: 100,227,887 (GRCm39)	Y192C	probably damaging	Het
Tmem237	A	G	1: 59,159,445 (GRCm39)		probably benign	Het
Trim11	A	G	11: 58,872,889 (GRCm39)	E191G	probably damaging	Het
Ttll3	C	T	6: 113,386,003 (GRCm39)	A612V	possibly damaging	Het
Ttn	G	A	2: 76,807,466 (GRCm39)	A89V	probably damaging	Het
Usp37	A	G	1: 74,507,431 (GRCm39)	F529L	probably damaging	Het
Vmn1r217	A	C	13: 23,298,698 (GRCm39)	V68G	probably benign	Het
Vwf	T	C	6: 125,568,151 (GRCm39)	S349P	probably damaging	Het
Wt1	G	A	2: 104,961,502 (GRCm39)		probably null	Het
Zcchc7	T	A	4: 44,895,838 (GRCm39)	L262H	probably damaging	Het
Zfp873	A	G	10: 81,895,991 (GRCm39)	S241G	probably benign	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
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'- ATAGTGCCTCCTCCAATGCC -3'
(R):5'- TCCTTGGGACACTGAGTTGG -3'

Sequencing Primer
(F):5'- TCCAATGCCACCCAGGG -3'
(R):5'- ACACTGAGTTGGAGATCACAC -3'

Posted On

2015-07-30