Incidental Mutation 'R6485:Gba2'
| ID |
517291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gba2
|
| Ensembl Gene |
ENSMUSG00000028467 |
| Gene Name |
glucosidase beta 2 |
| Synonyms |
bile acid |
| MMRRC Submission |
044617-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6485 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43566928-43578873 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 43574118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 112
(Y112D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119589
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030189]
[ENSMUST00000030190]
[ENSMUST00000107886]
[ENSMUST00000117140]
[ENSMUST00000130443]
|
| AlphaFold |
Q69ZF3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030189
AA Change: Y112D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467
AA Change: Y112D
| 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 damaging
Transcript: ENSMUST00000130443
AA Change: Y112D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467
AA Change: Y112D
| 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: ENSMUST00000139606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144968
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
A |
7: 120,026,390 (GRCm39) |
Y117* |
probably null |
Het |
| Acot5 |
A |
T |
12: 84,122,258 (GRCm39) |
R281W |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,241,852 (GRCm39) |
T719A |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,223,429 (GRCm39) |
T867A |
probably benign |
Het |
| Bcl2a1c |
T |
C |
9: 114,159,278 (GRCm39) |
Y19H |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,974,459 (GRCm39) |
I2285T |
possibly damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,559,655 (GRCm39) |
Y755C |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,396,474 (GRCm39) |
T816A |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,320,294 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,954,069 (GRCm39) |
|
probably null |
Het |
| Cpd |
T |
C |
11: 76,699,533 (GRCm39) |
|
probably null |
Het |
| Crispld2 |
A |
G |
8: 120,756,048 (GRCm39) |
D339G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,333,610 (GRCm39) |
D7046G |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,004,621 (GRCm39) |
Q136K |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,287,991 (GRCm39) |
E1691K |
possibly damaging |
Het |
| Fads6 |
A |
G |
11: 115,176,264 (GRCm39) |
F187S |
probably benign |
Het |
| Foxg1 |
A |
T |
12: 49,431,863 (GRCm39) |
I199F |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,262,894 (GRCm39) |
D640G |
probably benign |
Het |
| Gcfc2 |
T |
C |
6: 81,916,528 (GRCm39) |
I323T |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gria4 |
T |
A |
9: 4,464,249 (GRCm39) |
Y571F |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
| Lonrf1 |
A |
G |
8: 36,696,288 (GRCm39) |
|
probably null |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,525 (GRCm39) |
N70S |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,300,473 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,903,850 (GRCm39) |
D375G |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,600 (GRCm39) |
Q143R |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,225,164 (GRCm39) |
S1780* |
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,335,735 (GRCm39) |
|
probably null |
Het |
| Pgd |
A |
T |
4: 149,240,876 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
T |
C |
15: 79,191,572 (GRCm39) |
I279V |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,665,131 (GRCm39) |
C297* |
probably null |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
T |
C |
10: 85,793,508 (GRCm39) |
I22V |
probably benign |
Het |
| Slc25a30 |
G |
T |
14: 76,012,447 (GRCm39) |
A67E |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,506,612 (GRCm39) |
V605A |
possibly damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,534 (GRCm39) |
S585T |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,657,414 (GRCm39) |
D1785G |
probably damaging |
Het |
| Zic5 |
T |
A |
14: 122,697,052 (GRCm39) |
Y521F |
unknown |
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 |
|
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'- AGCCATGCATAAACTAGGAGCC -3'
(R):5'- GATACTAGTGATGGGTCGGC -3'
Sequencing Primer
(F):5'- GCATAAACTAGGAGCCTTTTTGCCTG -3'
(R):5'- GCTGGCCTCAAACTTGTAATG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation