Mutagenetix > Incidental Mutation

Incidental Mutation 'R1730:Gba2'

199214

Institutional Source

Beutler Lab

Gene Symbol

Gba2

Ensembl Gene

ENSMUSG00000028467

Gene Name

glucosidase beta 2

Synonyms

bile acid

MMRRC Submission

039762-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1730 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43566928-43578873 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43578242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 36 (C36R)

Ref Sequence

ENSEMBL: ENSMUSP00000119589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030189] [ENSMUST00000030190] [ENSMUST00000107884] [ENSMUST00000107886] [ENSMUST00000117140] [ENSMUST00000130443]

AlphaFold

Q69ZF3

Predicted Effect

probably benign
Transcript: ENSMUST00000030189
AA Change: C36R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467
AA Change: C36R

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: ENSMUST00000107884

SMART Domains

Protein: ENSMUSP00000103516
Gene: ENSMUSG00000078719

Domain	Start	End	E-Value	Type
Pfam:PSP94	36	118	4.9e-11	PFAM

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: C36R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467
AA Change: C36R

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: ENSMUST00000148426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141612

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

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: 205 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,896,259 (GRCm39)	I369T	possibly damaging	Het
Aass	T	C	6: 23,121,018 (GRCm39)	D82G	probably damaging	Het
Abi3bp	G	A	16: 56,488,642 (GRCm39)	V1258I	possibly damaging	Het
Acad11	T	A	9: 103,941,081 (GRCm39)	V41E	probably benign	Het
Aff1	T	G	5: 103,981,378 (GRCm39)	L514V	probably damaging	Het
Ankdd1b	G	T	13: 96,597,411 (GRCm39)	T7K	probably damaging	Het
Aspm	A	G	1: 139,401,312 (GRCm39)	I1111V	probably benign	Het
Bag3	A	T	7: 128,125,583 (GRCm39)	M1L	possibly damaging	Het
C4bp	C	G	1: 130,570,725 (GRCm39)	V284L	probably benign	Het
Cacna1s	T	C	1: 136,046,454 (GRCm39)	F1761S	probably benign	Het
Camsap2	C	T	1: 136,209,053 (GRCm39)	R802Q	probably benign	Het
Carmil1	T	C	13: 24,225,672 (GRCm39)	T635A	probably damaging	Het
Ccdc93	C	T	1: 121,383,855 (GRCm39)	P192L	probably benign	Het
Ccdc93	T	C	1: 121,389,668 (GRCm39)	V237A	probably benign	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cd55	C	A	1: 130,387,370 (GRCm39)	A143S	probably benign	Het
Cdh19	C	A	1: 110,821,114 (GRCm39)	E541D	probably damaging	Het
Cdh20	C	G	1: 109,993,465 (GRCm39)	L307V	possibly damaging	Het
Cep63	T	A	9: 102,496,066 (GRCm39)	I114F	possibly damaging	Het
Cfh	C	T	1: 140,075,435 (GRCm39)	V268I	possibly damaging	Het
Cfhr2	A	G	1: 139,741,180 (GRCm39)	M265T	probably benign	Het
Cfhr2	A	C	1: 139,741,197 (GRCm39)	N259K	probably benign	Het
Chi3l1	C	T	1: 134,116,267 (GRCm39)	A250V	probably damaging	Het
Cnr1	A	G	4: 33,943,851 (GRCm39)	T80A	possibly damaging	Het
Cntnap5a	C	A	1: 116,382,734 (GRCm39)	L1001I	probably benign	Het
Cntnap5a	C	T	1: 116,382,873 (GRCm39)	T1047I	probably benign	Het
Cntnap5a	T	C	1: 116,382,831 (GRCm39)	L1033S	probably benign	Het
Col12a1	A	C	9: 79,535,660 (GRCm39)	V2612G	possibly damaging	Het
Crb1	T	C	1: 139,162,517 (GRCm39)	M1214V	probably benign	Het
Crb1	C	T	1: 139,171,155 (GRCm39)	R684H	probably benign	Het
Crb1	C	T	1: 139,170,733 (GRCm39)	G825R	probably damaging	Het
Crb1	G	A	1: 139,168,876 (GRCm39)	P881S	probably damaging	Het
Crb1	A	T	1: 139,165,360 (GRCm39)	H921Q	probably benign	Het
Cxcr4	C	T	1: 128,517,014 (GRCm39)	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,335,405 (GRCm39)	R147W	probably damaging	Het
Cyp2c29	A	T	19: 39,313,389 (GRCm39)	H295L	possibly damaging	Het
Cyp2c68	A	T	19: 39,687,719 (GRCm39)	M426K	possibly damaging	Het
Ddx59	T	C	1: 136,344,791 (GRCm39)	V154A	probably benign	Het
Dsel	G	C	1: 111,787,724 (GRCm39)	T937S	probably benign	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Dsg2	G	A	18: 20,724,937 (GRCm39)	V448I	probably benign	Het
Dstyk	C	T	1: 132,384,722 (GRCm39)	L739F	probably damaging	Het
En1	A	G	1: 120,531,350 (GRCm39)	S197G	unknown	Het
Eogt	T	C	6: 97,090,825 (GRCm39)	D438G	probably damaging	Het
Etnk2	C	A	1: 133,293,325 (GRCm39)	D89E	probably benign	Het
Etnk2	G	T	1: 133,293,503 (GRCm39)	G149W	probably damaging	Het
Etnk2	C	T	1: 133,293,554 (GRCm39)	R166*	probably null	Het
Etnk2	G	A	1: 133,293,555 (GRCm39)	R166Q	probably benign	Het
Etnk2	T	A	1: 133,304,653 (GRCm39)	V292E	probably benign	Het
Etnk2	A	G	1: 133,291,661 (GRCm39)	S54G	probably benign	Het
Etnppl	A	G	3: 130,414,398 (GRCm39)	T98A	probably damaging	Het
Eya2	G	T	2: 165,529,583 (GRCm39)	G109W	probably damaging	Het
Fam131b	T	G	6: 42,295,514 (GRCm39)	Q221P	possibly damaging	Het
Fam72a	C	T	1: 131,466,633 (GRCm39)	T139M	probably benign	Het
Fam72a	T	C	1: 131,458,406 (GRCm39)	I56T	probably benign	Het
Fcamr	G	A	1: 130,740,366 (GRCm39)	G262S	probably benign	Het
Fcamr	A	G	1: 130,740,429 (GRCm39)	I283V	probably benign	Het
Fcamr	T	C	1: 130,740,475 (GRCm39)	V298A	probably benign	Het
Fcamr	A	G	1: 130,740,546 (GRCm39)	M322V	probably benign	Het
Fcamr	C	T	1: 130,740,553 (GRCm39)	P324L	probably benign	Het
Fcamr	A	G	1: 130,742,334 (GRCm39)	N574D	probably benign	Het
Fcamr	A	G	1: 130,739,317 (GRCm39)	I206V	probably benign	Het
Fcmr	T	C	1: 130,806,006 (GRCm39)	S321P	probably benign	Het
Fcmr	A	G	1: 130,803,711 (GRCm39)	T172A	probably benign	Het
Gabarap	C	T	11: 69,882,515 (GRCm39)		probably benign	Het
Gatad2a	G	T	8: 70,362,586 (GRCm39)	H600N	probably damaging	Het
Gli2	G	T	1: 118,929,774 (GRCm39)	H44Q	probably benign	Het
Gli2	C	T	1: 118,795,817 (GRCm39)	A113T	possibly damaging	Het
Gm10961	T	C	3: 107,540,310 (GRCm39)		probably benign	Het
Gm4847	T	C	1: 166,465,908 (GRCm39)	D227G	possibly damaging	Het
Gpr37l1	C	A	1: 135,089,268 (GRCm39)	E266*	probably null	Het
Gucy1a2	A	T	9: 3,634,957 (GRCm39)	N334Y	probably benign	Het
H2-D1	A	G	17: 35,482,381 (GRCm39)	T34A	probably damaging	Het
Igfn1	G	A	1: 135,887,666 (GRCm39)	P2466L	probably damaging	Het
Igfn1	C	T	1: 135,907,653 (GRCm39)	A231T	probably benign	Het
Igfn1	C	T	1: 135,899,865 (GRCm39)	R482Q	probably benign	Het
Igfn1	T	C	1: 135,898,149 (GRCm39)	S806G	probably benign	Het
Igfn1	G	A	1: 135,895,937 (GRCm39)	A1543V	probably benign	Het
Igfn1	G	A	1: 135,910,213 (GRCm39)	R124W	probably benign	Het
Igfn1	T	C	1: 135,926,363 (GRCm39)	E29G	probably benign	Het
Igfn1	T	C	1: 135,926,421 (GRCm39)	I10V	unknown	Het
Ikbke	C	A	1: 131,193,674 (GRCm39)	A459S	probably benign	Het
Ikbke	T	C	1: 131,197,560 (GRCm39)	S447G	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcna5	A	T	6: 126,510,823 (GRCm39)	I435N	probably damaging	Het
Kcnj5	T	C	9: 32,233,488 (GRCm39)	I276V	probably damaging	Het
Kcnt2	G	A	1: 140,282,285 (GRCm39)	S90N	probably benign	Het
Kif14	A	G	1: 136,396,713 (GRCm39)	K340E	probably damaging	Het
Kif14	G	A	1: 136,406,103 (GRCm39)	A556T	probably benign	Het
Kif14	A	G	1: 136,418,070 (GRCm39)	S868G	probably benign	Het
Kif14	C	T	1: 136,431,169 (GRCm39)	L1189F	probably benign	Het
Kif14	T	C	1: 136,443,699 (GRCm39)	F1291L	probably benign	Het
Kif14	T	C	1: 136,453,521 (GRCm39)	V1433A	probably benign	Het
Kif14	A	G	1: 136,396,017 (GRCm39)	N108D	probably benign	Het
Klhl20	A	G	1: 160,930,560 (GRCm39)	V314A	possibly damaging	Het
Lad1	C	T	1: 135,755,761 (GRCm39)	R346C	probably damaging	Het
Lad1	C	T	1: 135,755,119 (GRCm39)	P132S	possibly damaging	Het
Lax1	T	C	1: 133,608,307 (GRCm39)	N145D	probably benign	Het
Lax1	G	A	1: 133,611,372 (GRCm39)	P67S	probably damaging	Het
Lax1	T	C	1: 133,607,716 (GRCm39)	R342G	probably benign	Het
Lgr6	C	T	1: 134,914,826 (GRCm39)	V641I	probably benign	Het
Lgr6	A	T	1: 134,915,747 (GRCm39)	S334T	probably benign	Het
Lgr6	G	T	1: 134,918,373 (GRCm39)	H263N	probably benign	Het
Lgr6	C	T	1: 134,931,214 (GRCm39)	S3N	probably benign	Het
Lin7b	A	T	7: 45,019,351 (GRCm39)	H72Q	probably benign	Het
Lmod1	C	T	1: 135,291,811 (GRCm39)	T222I	probably benign	Het
Map3k9	A	T	12: 81,769,000 (GRCm39)	V1016E	probably damaging	Het
Mcam	T	C	9: 44,046,003 (GRCm39)	L6P	probably damaging	Het
Mgam	A	G	6: 40,641,794 (GRCm39)	H549R	possibly damaging	Het
Mrc1	T	C	2: 14,332,655 (GRCm39)	V1285A	probably benign	Het
Mroh3	G	C	1: 136,119,882 (GRCm39)	Q440E	possibly damaging	Het
Mybph	C	T	1: 134,125,218 (GRCm39)	R249C	probably benign	Het
Myh7b	A	G	2: 155,467,592 (GRCm39)	D739G	possibly damaging	Het
Nav1	A	T	1: 135,512,465 (GRCm39)	D198E	possibly damaging	Het
Nfkbib	A	T	7: 28,461,480 (GRCm39)	Y86N	probably damaging	Het
Nfrkb	C	T	9: 31,325,932 (GRCm39)	T1125M	probably benign	Het
Nr5a2	C	A	1: 136,879,863 (GRCm39)	R35L	probably benign	Het
Nrip1	G	T	16: 76,089,778 (GRCm39)	T593K	probably benign	Het
Obscn	A	G	11: 58,964,459 (GRCm39)	Y726H	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Olfml2b	G	A	1: 170,509,358 (GRCm39)	G569S	probably damaging	Het
Optc	C	G	1: 133,832,908 (GRCm39)	S64T	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or10v5	T	A	19: 11,805,445 (GRCm39)	Q315L	probably benign	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4f14b	T	C	2: 111,775,633 (GRCm39)	H56R	probably benign	Het
Or7c19	A	C	8: 85,957,477 (GRCm39)	M118L	probably benign	Het
Or8d2	T	A	9: 38,760,268 (GRCm39)	I286K	probably damaging	Het
Or8g32	T	C	9: 39,305,518 (GRCm39)	Y144H	probably benign	Het
Or9g3	T	A	2: 85,590,586 (GRCm39)	I45F	possibly damaging	Het
Pard6g	T	A	18: 80,123,040 (GRCm39)	F25I	probably damaging	Het
Parp6	C	A	9: 59,540,821 (GRCm39)	C291*	probably null	Het
Pigr	C	T	1: 130,772,259 (GRCm39)	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 132,994,365 (GRCm39)	P110S	probably benign	Het
Plekha6	C	G	1: 133,215,584 (GRCm39)	T792S	probably benign	Het
Polr2i	T	C	7: 29,932,493 (GRCm39)	C67R	probably damaging	Het
Ppfia4	G	A	1: 134,227,059 (GRCm39)	P1159S	probably benign	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Ptgfrn	T	C	3: 100,963,758 (GRCm39)	N618S	possibly damaging	Het
Ptpn7	A	G	1: 135,062,213 (GRCm39)	Q53R	probably benign	Het
Ptprc	T	G	1: 138,027,414 (GRCm39)	N478T	probably benign	Het
Ptprc	T	C	1: 138,039,992 (GRCm39)	K212E	possibly damaging	Het
Ptprc	A	G	1: 138,035,575 (GRCm39)	V400A	probably benign	Het
Ptprc	C	A	1: 138,035,562 (GRCm39)	E402D	probably benign	Het
Ptprc	A	G	1: 138,035,561 (GRCm39)	S405P	probably benign	Het
Rab29	A	G	1: 131,799,848 (GRCm39)	Q141R	probably benign	Het
Rad17	C	T	13: 100,759,314 (GRCm39)	R571Q	probably damaging	Het
Ren1	C	T	1: 133,281,975 (GRCm39)	T32I	probably benign	Het
Ren1	T	A	1: 133,281,944 (GRCm39)	W22R	probably damaging	Het
Ren1	C	G	1: 133,287,745 (GRCm39)	L360V	probably benign	Het
Ren1	A	T	1: 133,287,721 (GRCm39)	N352Y	probably benign	Het
Ren1	A	T	1: 133,286,817 (GRCm39)	E315D	probably benign	Het
Ren1	A	C	1: 133,284,195 (GRCm39)	K187Q	probably benign	Het
Rims1	C	T	1: 22,416,753 (GRCm39)		probably null	Het
Rnpep	C	T	1: 135,190,834 (GRCm39)	A571T	possibly damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Ro60	C	T	1: 143,635,752 (GRCm39)	V465I	probably benign	Het
Sctr	T	C	1: 119,959,386 (GRCm39)	F110L	probably benign	Het
Sctr	G	A	1: 119,990,987 (GRCm39)	S440N	possibly damaging	Het
Sele	T	G	1: 163,882,192 (GRCm39)	V559G	probably benign	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Serpinb10	C	T	1: 107,466,203 (GRCm39)	S63F	probably damaging	Het
Serpinb2	C	A	1: 107,451,564 (GRCm39)	A239E	probably benign	Het
Serpinb2	C	T	1: 107,451,620 (GRCm39)	H258Y	probably benign	Het
Serpinb2	C	T	1: 107,451,624 (GRCm39)	T259I	probably benign	Het
Serpinb2	A	C	1: 107,452,273 (GRCm39)	S284R	probably benign	Het
Serpinb2	G	A	1: 107,443,365 (GRCm39)	A55T	probably damaging	Het
Serpinb8	A	C	1: 107,534,734 (GRCm39)	L268F	probably benign	Het
Serpinb8	A	G	1: 107,525,257 (GRCm39)	S20G	probably benign	Het
Serpinb8	G	A	1: 107,526,684 (GRCm39)	A75T	probably benign	Het
Setd1a	T	A	7: 127,384,296 (GRCm39)	Y382*	probably null	Het
Sipa1l2	A	T	8: 126,206,880 (GRCm39)		probably null	Het
Slc25a41	T	C	17: 57,346,921 (GRCm39)	E10G	probably benign	Het
Slc26a9	C	T	1: 131,691,608 (GRCm39)	A617V	probably benign	Het
Slc36a1	A	G	11: 55,114,498 (GRCm39)	D192G	probably damaging	Het
Steap3	G	A	1: 120,162,108 (GRCm39)	A350V	probably benign	Het
Steap3	T	C	1: 120,155,480 (GRCm39)	N493S	probably benign	Het
Susd4	A	G	1: 182,681,543 (GRCm39)	E128G	probably damaging	Het
Synpo2l	G	A	14: 20,715,887 (GRCm39)	P233S	probably damaging	Het
Tbc1d17	A	C	7: 44,494,555 (GRCm39)	S227A	probably damaging	Het
Tfg	G	T	16: 56,533,152 (GRCm39)	N2K	probably damaging	Het
Thsd7b	A	C	1: 130,044,368 (GRCm39)	Q1116P	probably benign	Het
Thsd7b	G	C	1: 129,605,920 (GRCm39)	A554P	probably benign	Het
Thsd7b	C	T	1: 129,556,628 (GRCm39)	T328I	probably damaging	Het
Thsd7b	T	A	1: 129,595,674 (GRCm39)	F498Y	probably benign	Het
Tmem143	G	A	7: 45,556,426 (GRCm39)	D144N	possibly damaging	Het
Tnnt2	C	T	1: 135,773,244 (GRCm39)		probably benign	Het
Trim47	A	G	11: 115,996,864 (GRCm39)	L630P	probably damaging	Het
Ttk	A	G	9: 83,750,645 (GRCm39)	N691S	possibly damaging	Het
Ttn	T	G	2: 76,547,336 (GRCm39)	T32237P	probably damaging	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ube2t	C	T	1: 134,899,905 (GRCm39)	A149V	probably benign	Het
Uggt1	T	C	1: 36,260,342 (GRCm39)	T158A	probably benign	Het
Usp9y	A	T	Y: 1,367,093 (GRCm39)	V998D	probably benign	Het
Vwa5b2	C	T	16: 20,419,675 (GRCm39)	P644S	probably damaging	Het
Wars1	A	C	12: 108,841,667 (GRCm39)	F160C	probably damaging	Het
Zc3h11a	G	A	1: 133,549,892 (GRCm39)	P695S	probably benign	Het
Zc3h11a	C	T	1: 133,552,359 (GRCm39)	V583I	probably benign	Het
Zfp541	A	G	7: 15,811,898 (GRCm39)	T184A	probably damaging	Het
Zfp804b	T	C	5: 6,821,938 (GRCm39)	D375G	probably damaging	Het
Zp3r	A	G	1: 130,524,551 (GRCm39)	L164P	probably benign	Het
Zp3r	C	A	1: 130,547,151 (GRCm39)	E8D	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
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
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'- GCCTGAATGGGATCATAGGAACCAC -3'
(R):5'- CGTCAGAAACCTGTCAGAGGGAAC -3'

Sequencing Primer
(F):5'- GCGTTCTAGGCAACGGAATC -3'
(R):5'- CTGTCAGAGGGAACCGAGG -3'

Posted On

2014-05-23