Incidental Mutation 'R2050:Bace2'
| ID |
226367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bace2
|
| Ensembl Gene |
ENSMUSG00000040605 |
| Gene Name |
beta-site APP-cleaving enzyme 2 |
| Synonyms |
ARP1, 1110059C24Rik, BAE2, ALP56, ASP21, CDA13, CEAP1 |
| MMRRC Submission |
040057-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R2050 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
97157942-97244136 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97213336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 100
(C100S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047275]
[ENSMUST00000231664]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047275
AA Change: C229S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: C229S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Asp
|
87 |
427 |
2.3e-47 |
PFAM |
|
Pfam:TAXi_C
|
269 |
426 |
4.4e-16 |
PFAM |
|
transmembrane domain
|
466 |
488 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231664
AA Change: C100S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231783
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231892
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein undergoes proteolytic processing to generate an active endopeptidase enzyme. This transmembrane protease catalyzes the proteolysis of amyloid precursor protein to produce amyloid beta peptide. Mice lacking the encoded product exhibit increased pancreatic beta cell mass and improved glucose tolerance due to increased insulin secretion. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in impaired APP processing by neurons and glia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
G |
T |
10: 126,916,130 (GRCm39) |
E214* |
probably null |
Het |
| Angpt2 |
G |
T |
8: 18,755,673 (GRCm39) |
P265T |
probably benign |
Het |
| Apc2 |
C |
A |
10: 80,143,443 (GRCm39) |
|
probably null |
Het |
| Arpc1b |
C |
T |
5: 145,062,729 (GRCm39) |
P250S |
probably damaging |
Het |
| Atxn10 |
T |
G |
15: 85,249,513 (GRCm39) |
V115G |
probably benign |
Het |
| Bpifb9b |
T |
C |
2: 154,151,524 (GRCm39) |
S82P |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,300,300 (GRCm39) |
S2157P |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,359,598 (GRCm39) |
I104L |
probably damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,643,402 (GRCm39) |
I44T |
possibly damaging |
Het |
| Cdh6 |
T |
A |
15: 13,057,587 (GRCm39) |
M245L |
probably benign |
Het |
| Celsr1 |
A |
C |
15: 85,914,748 (GRCm39) |
V1075G |
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,987,393 (GRCm39) |
F1065L |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Colgalt1 |
T |
C |
8: 72,070,330 (GRCm39) |
|
probably null |
Het |
| Ctnnal1 |
A |
T |
4: 56,835,350 (GRCm39) |
V309D |
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,868,527 (GRCm39) |
E659D |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,464,696 (GRCm39) |
Y516H |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,580,127 (GRCm39) |
L3099P |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,520 (GRCm39) |
E1271G |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,530,444 (GRCm39) |
H188R |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,148,245 (GRCm39) |
D344G |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,225,448 (GRCm39) |
M119T |
probably damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,992 (GRCm39) |
I368V |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,870 (GRCm39) |
N249Y |
possibly damaging |
Het |
| Igsf8 |
T |
A |
1: 172,146,432 (GRCm39) |
Y36N |
probably damaging |
Het |
| Lrp12 |
G |
A |
15: 39,735,985 (GRCm39) |
S649L |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,453,473 (GRCm39) |
S788P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,887,917 (GRCm39) |
D1164G |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,488,921 (GRCm39) |
|
probably null |
Het |
| Myo5a |
G |
A |
9: 75,054,156 (GRCm39) |
E355K |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,743,194 (GRCm39) |
V85E |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,332,123 (GRCm39) |
|
probably null |
Het |
| Nlrx1 |
A |
T |
9: 44,174,077 (GRCm39) |
W375R |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,016,686 (GRCm39) |
|
probably null |
Het |
| Plch2 |
A |
G |
4: 155,085,275 (GRCm39) |
M272T |
probably benign |
Het |
| Plk4 |
T |
A |
3: 40,764,815 (GRCm39) |
M603K |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,524,748 (GRCm39) |
V646E |
probably benign |
Het |
| Slc28a2b |
T |
C |
2: 122,353,349 (GRCm39) |
S510P |
probably benign |
Het |
| Slc9a1 |
A |
G |
4: 133,143,645 (GRCm39) |
H377R |
probably benign |
Het |
| Snrnp70 |
A |
C |
7: 45,036,724 (GRCm39) |
Y61* |
probably null |
Het |
| Spatc1l |
T |
C |
10: 76,399,892 (GRCm39) |
L138P |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,140,825 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
T |
A |
2: 29,892,250 (GRCm39) |
S1055T |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,083 (GRCm39) |
M209L |
probably damaging |
Het |
| Tdrd12 |
C |
T |
7: 35,228,672 (GRCm39) |
V17I |
probably damaging |
Het |
| Tmem129 |
C |
A |
5: 33,815,126 (GRCm39) |
A16S |
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,164,381 (GRCm39) |
E584G |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,193,856 (GRCm39) |
H627N |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,852,031 (GRCm39) |
D820G |
possibly damaging |
Het |
| Trpt1 |
T |
A |
19: 6,975,452 (GRCm39) |
N98K |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,429,069 (GRCm39) |
F857I |
probably damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,475,021 (GRCm39) |
V669A |
probably damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,273,681 (GRCm39) |
I832V |
probably damaging |
Het |
| Zbtb20 |
T |
A |
16: 43,429,975 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
A |
C |
4: 108,575,800 (GRCm39) |
M427R |
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,576,500 (GRCm39) |
F194I |
possibly damaging |
Het |
|
| Other mutations in Bace2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01129:Bace2
|
APN |
16 |
97,209,630 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02660:Bace2
|
APN |
16 |
97,216,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02669:Bace2
|
APN |
16 |
97,238,093 (GRCm39) |
makesense |
probably null |
|
|
R0244:Bace2
|
UTSW |
16 |
97,237,973 (GRCm39) |
splice site |
probably null |
|
|
R0674:Bace2
|
UTSW |
16 |
97,237,949 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0906:Bace2
|
UTSW |
16 |
97,158,141 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1078:Bace2
|
UTSW |
16 |
97,158,060 (GRCm39) |
missense |
unknown |
|
|
R1670:Bace2
|
UTSW |
16 |
97,213,335 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1997:Bace2
|
UTSW |
16 |
97,216,289 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2937:Bace2
|
UTSW |
16 |
97,213,388 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2938:Bace2
|
UTSW |
16 |
97,213,388 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3103:Bace2
|
UTSW |
16 |
97,223,201 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3755:Bace2
|
UTSW |
16 |
97,237,857 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4110:Bace2
|
UTSW |
16 |
97,237,856 (GRCm39) |
missense |
probably benign |
|
|
R4112:Bace2
|
UTSW |
16 |
97,237,856 (GRCm39) |
missense |
probably benign |
|
|
R4113:Bace2
|
UTSW |
16 |
97,237,856 (GRCm39) |
missense |
probably benign |
|
|
R4560:Bace2
|
UTSW |
16 |
97,223,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4562:Bace2
|
UTSW |
16 |
97,223,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4563:Bace2
|
UTSW |
16 |
97,223,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Bace2
|
UTSW |
16 |
97,238,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5535:Bace2
|
UTSW |
16 |
97,214,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6282:Bace2
|
UTSW |
16 |
97,216,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Bace2
|
UTSW |
16 |
97,214,633 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7045:Bace2
|
UTSW |
16 |
97,200,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Bace2
|
UTSW |
16 |
97,237,998 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7546:Bace2
|
UTSW |
16 |
97,200,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7653:Bace2
|
UTSW |
16 |
97,237,852 (GRCm39) |
missense |
|
|
|
R8026:Bace2
|
UTSW |
16 |
97,238,052 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8171:Bace2
|
UTSW |
16 |
97,225,786 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8324:Bace2
|
UTSW |
16 |
97,158,108 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8341:Bace2
|
UTSW |
16 |
97,158,108 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8480:Bace2
|
UTSW |
16 |
97,214,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Bace2
|
UTSW |
16 |
97,158,059 (GRCm39) |
missense |
unknown |
|
|
R9221:Bace2
|
UTSW |
16 |
97,209,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:Bace2
|
UTSW |
16 |
97,214,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCATAGCTGTTTTCAAGCATGTG -3'
(R):5'- CCATGTGGGATCTAACAGGACC -3'
Sequencing Primer
(F):5'- CAAGCATGTGTGTTGATTAACCATG -3'
(R):5'- GTGGGATCTAACAGGACCTATATTAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation