Incidental Mutation 'IGL03301:Ppp3cb'
ID |
416227 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp3cb
|
Ensembl Gene |
ENSMUSG00000021816 |
Gene Name |
protein phosphatase 3, catalytic subunit, beta isoform |
Synonyms |
Cnab, CnAbeta, 1110063J16Rik, Calnb, PP2BA beta |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03301
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20574052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 262
(V262D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022355]
[ENSMUST00000159027]
[ENSMUST00000161445]
[ENSMUST00000161989]
|
AlphaFold |
P48453 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022355
AA Change: V262D
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022355 Gene: ENSMUSG00000021816 AA Change: V262D
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
PP2Ac
|
65 |
356 |
5.03e-166 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159027
AA Change: V262D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125722 Gene: ENSMUSG00000021816 AA Change: V262D
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
PP2Ac
|
65 |
356 |
5.03e-166 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161332
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161445
AA Change: V262D
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125630 Gene: ENSMUSG00000021816 AA Change: V262D
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
PP2Ac
|
65 |
356 |
5.03e-166 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161989
AA Change: V262D
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125582 Gene: ENSMUSG00000021816 AA Change: V262D
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
PP2Ac
|
65 |
356 |
5.03e-166 |
SMART |
low complexity region
|
487 |
497 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice have small hearts and thymi, and reduced body weight. Cardiac function is normal, but mice lack a cardiac hypertrophic response to pressure overload, angiotensin II, or isopreteronol. Thymi are hypoplastic, with abnormal T cell development and reduced numbers of T cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 89,855,263 (GRCm39) |
E418G |
probably damaging |
Het |
Arl14 |
T |
C |
3: 69,130,276 (GRCm39) |
F141S |
probably damaging |
Het |
C1s1 |
A |
T |
6: 124,518,283 (GRCm39) |
|
probably benign |
Het |
Cilp |
T |
C |
9: 65,187,499 (GRCm39) |
V1198A |
probably benign |
Het |
Cnbd1 |
A |
T |
4: 19,055,039 (GRCm39) |
I129K |
probably benign |
Het |
Ctdp1 |
G |
A |
18: 80,492,849 (GRCm39) |
Q549* |
probably null |
Het |
Cyp2ab1 |
T |
A |
16: 20,132,549 (GRCm39) |
I250F |
possibly damaging |
Het |
Dmd |
G |
A |
X: 82,952,120 (GRCm39) |
R1765Q |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 31,014,649 (GRCm39) |
G1739R |
probably damaging |
Het |
Eml6 |
T |
C |
11: 29,714,083 (GRCm39) |
K1350E |
probably benign |
Het |
Ephx4 |
C |
A |
5: 107,574,730 (GRCm39) |
T256K |
probably benign |
Het |
Fnd3c2 |
G |
T |
X: 105,295,869 (GRCm39) |
Q49K |
probably benign |
Het |
Heatr1 |
G |
T |
13: 12,449,086 (GRCm39) |
G1889W |
probably damaging |
Het |
Igkv19-93 |
A |
T |
6: 68,713,465 (GRCm39) |
W55R |
probably damaging |
Het |
Jak1 |
T |
C |
4: 101,032,370 (GRCm39) |
Y412C |
probably damaging |
Het |
Moxd1 |
A |
T |
10: 24,155,382 (GRCm39) |
N261I |
probably damaging |
Het |
Mrgpra1 |
T |
C |
7: 46,985,164 (GRCm39) |
N172D |
probably benign |
Het |
Papolg |
T |
C |
11: 23,824,503 (GRCm39) |
N293S |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,160,775 (GRCm39) |
S2294P |
probably damaging |
Het |
Rhox7a |
A |
G |
X: 36,928,888 (GRCm39) |
T235A |
probably benign |
Het |
Saal1 |
A |
G |
7: 46,351,944 (GRCm39) |
|
probably benign |
Het |
Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
Slc22a2 |
A |
G |
17: 12,824,926 (GRCm39) |
R263G |
probably damaging |
Het |
Speer3 |
T |
A |
5: 13,845,447 (GRCm39) |
L160H |
probably damaging |
Het |
Tmcc2 |
T |
C |
1: 132,288,557 (GRCm39) |
M377V |
possibly damaging |
Het |
Tsen2 |
T |
G |
6: 115,545,732 (GRCm39) |
Y341D |
probably damaging |
Het |
Vmn2r13 |
A |
T |
5: 109,305,955 (GRCm39) |
V541D |
probably damaging |
Het |
Vmn2r15 |
A |
G |
5: 109,445,221 (GRCm39) |
|
probably null |
Het |
Zfp711 |
T |
C |
X: 111,543,098 (GRCm39) |
Y710H |
probably damaging |
Het |
Zmiz2 |
C |
T |
11: 6,351,170 (GRCm39) |
T566M |
probably damaging |
Het |
|
Other mutations in Ppp3cb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00702:Ppp3cb
|
APN |
14 |
20,578,318 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00844:Ppp3cb
|
APN |
14 |
20,581,754 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01859:Ppp3cb
|
APN |
14 |
20,559,517 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02490:Ppp3cb
|
APN |
14 |
20,581,726 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02546:Ppp3cb
|
APN |
14 |
20,551,622 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02555:Ppp3cb
|
APN |
14 |
20,581,021 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02724:Ppp3cb
|
APN |
14 |
20,573,645 (GRCm39) |
splice site |
probably null |
|
IGL02944:Ppp3cb
|
APN |
14 |
20,578,303 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03072:Ppp3cb
|
APN |
14 |
20,581,793 (GRCm39) |
missense |
probably damaging |
1.00 |
Copacabana
|
UTSW |
14 |
20,581,010 (GRCm39) |
critical splice donor site |
probably null |
|
eden_express
|
UTSW |
14 |
20,578,263 (GRCm39) |
nonsense |
probably null |
|
everglades
|
UTSW |
14 |
20,581,016 (GRCm39) |
missense |
probably damaging |
1.00 |
Havana
|
UTSW |
14 |
20,581,820 (GRCm39) |
missense |
possibly damaging |
0.85 |
justinian
|
UTSW |
14 |
20,558,611 (GRCm39) |
missense |
possibly damaging |
0.73 |
Prokopios
|
UTSW |
14 |
20,570,720 (GRCm39) |
missense |
probably benign |
0.05 |
Redwood
|
UTSW |
14 |
20,559,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R0026:Ppp3cb
|
UTSW |
14 |
20,581,836 (GRCm39) |
missense |
probably benign |
0.00 |
R0050:Ppp3cb
|
UTSW |
14 |
20,581,820 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0050:Ppp3cb
|
UTSW |
14 |
20,581,820 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0218:Ppp3cb
|
UTSW |
14 |
20,574,044 (GRCm39) |
missense |
probably damaging |
0.99 |
R0479:Ppp3cb
|
UTSW |
14 |
20,553,309 (GRCm39) |
splice site |
probably null |
|
R1013:Ppp3cb
|
UTSW |
14 |
20,574,072 (GRCm39) |
missense |
probably benign |
|
R1061:Ppp3cb
|
UTSW |
14 |
20,558,682 (GRCm39) |
splice site |
probably null |
|
R1498:Ppp3cb
|
UTSW |
14 |
20,559,567 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1508:Ppp3cb
|
UTSW |
14 |
20,574,492 (GRCm39) |
missense |
probably damaging |
0.99 |
R1719:Ppp3cb
|
UTSW |
14 |
20,574,131 (GRCm39) |
missense |
probably benign |
0.05 |
R1799:Ppp3cb
|
UTSW |
14 |
20,574,540 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1883:Ppp3cb
|
UTSW |
14 |
20,573,913 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2082:Ppp3cb
|
UTSW |
14 |
20,558,746 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2176:Ppp3cb
|
UTSW |
14 |
20,570,720 (GRCm39) |
missense |
probably benign |
0.05 |
R3021:Ppp3cb
|
UTSW |
14 |
20,573,921 (GRCm39) |
nonsense |
probably null |
|
R3726:Ppp3cb
|
UTSW |
14 |
20,581,010 (GRCm39) |
critical splice donor site |
probably null |
|
R4085:Ppp3cb
|
UTSW |
14 |
20,558,611 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4328:Ppp3cb
|
UTSW |
14 |
20,581,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R4509:Ppp3cb
|
UTSW |
14 |
20,565,569 (GRCm39) |
intron |
probably benign |
|
R4600:Ppp3cb
|
UTSW |
14 |
20,570,714 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4601:Ppp3cb
|
UTSW |
14 |
20,570,714 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4603:Ppp3cb
|
UTSW |
14 |
20,570,714 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4610:Ppp3cb
|
UTSW |
14 |
20,570,714 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4611:Ppp3cb
|
UTSW |
14 |
20,570,714 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4694:Ppp3cb
|
UTSW |
14 |
20,551,583 (GRCm39) |
missense |
probably benign |
0.00 |
R4749:Ppp3cb
|
UTSW |
14 |
20,574,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R4866:Ppp3cb
|
UTSW |
14 |
20,573,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R4911:Ppp3cb
|
UTSW |
14 |
20,559,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R5105:Ppp3cb
|
UTSW |
14 |
20,559,490 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5219:Ppp3cb
|
UTSW |
14 |
20,578,263 (GRCm39) |
nonsense |
probably null |
|
R5586:Ppp3cb
|
UTSW |
14 |
20,570,758 (GRCm39) |
splice site |
probably benign |
|
R5740:Ppp3cb
|
UTSW |
14 |
20,551,664 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6649:Ppp3cb
|
UTSW |
14 |
20,581,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R7362:Ppp3cb
|
UTSW |
14 |
20,573,719 (GRCm39) |
missense |
probably benign |
0.00 |
R7493:Ppp3cb
|
UTSW |
14 |
20,558,619 (GRCm39) |
missense |
probably benign |
0.01 |
R8291:Ppp3cb
|
UTSW |
14 |
20,573,662 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8438:Ppp3cb
|
UTSW |
14 |
20,565,658 (GRCm39) |
missense |
probably damaging |
0.99 |
R8515:Ppp3cb
|
UTSW |
14 |
20,581,844 (GRCm39) |
missense |
probably benign |
0.21 |
R8867:Ppp3cb
|
UTSW |
14 |
20,596,517 (GRCm39) |
unclassified |
probably benign |
|
R9136:Ppp3cb
|
UTSW |
14 |
20,581,867 (GRCm39) |
missense |
probably benign |
0.33 |
R9254:Ppp3cb
|
UTSW |
14 |
20,581,874 (GRCm39) |
missense |
probably benign |
|
R9379:Ppp3cb
|
UTSW |
14 |
20,581,874 (GRCm39) |
missense |
probably benign |
|
R9516:Ppp3cb
|
UTSW |
14 |
20,573,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R9670:Ppp3cb
|
UTSW |
14 |
20,578,314 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ppp3cb
|
UTSW |
14 |
20,558,586 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2016-08-02 |