Incidental Mutation 'R0218:Ppp3cb'
ID |
33686 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp3cb
|
Ensembl Gene |
ENSMUSG00000021816 |
Gene Name |
protein phosphatase 3, catalytic subunit, beta isoform |
Synonyms |
Cnab, CnAbeta, 1110063J16Rik, Calnb, PP2BA beta |
MMRRC Submission |
038467-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0218 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20574044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 265
(C265S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022355]
[ENSMUST00000159027]
[ENSMUST00000161445]
[ENSMUST00000161989]
|
AlphaFold |
P48453 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022355
AA Change: C265S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022355 Gene: ENSMUSG00000021816 AA Change: C265S
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: C265S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125722 Gene: ENSMUSG00000021816 AA Change: C265S
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 |
probably damaging
Transcript: ENSMUST00000161445
AA Change: C265S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125630 Gene: ENSMUSG00000021816 AA Change: C265S
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: C265S
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125582 Gene: ENSMUSG00000021816 AA Change: C265S
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 |
|
Meta Mutation Damage Score |
0.9214 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
98% (53/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
G |
8: 44,079,477 (GRCm39) |
Q249P |
probably benign |
Het |
Adgrv1 |
C |
T |
13: 81,255,017 (GRCm39) |
|
probably null |
Het |
Ccdc110 |
A |
G |
8: 46,387,761 (GRCm39) |
|
probably benign |
Het |
Cd200r1 |
T |
A |
16: 44,609,106 (GRCm39) |
|
probably benign |
Het |
Cdkl1 |
A |
T |
12: 69,836,809 (GRCm39) |
D40E |
probably benign |
Het |
Cdx1 |
A |
G |
18: 61,153,436 (GRCm39) |
|
probably benign |
Het |
Cenpp |
T |
A |
13: 49,801,108 (GRCm39) |
K103N |
possibly damaging |
Het |
Cep162 |
A |
G |
9: 87,093,862 (GRCm39) |
Y839H |
possibly damaging |
Het |
Chac1 |
T |
A |
2: 119,183,941 (GRCm39) |
L181* |
probably null |
Het |
Ciapin1 |
G |
T |
8: 95,554,938 (GRCm39) |
Q173K |
probably damaging |
Het |
Cmklr2 |
T |
A |
1: 63,222,690 (GRCm39) |
N182Y |
probably benign |
Het |
Dgcr2 |
A |
G |
16: 17,667,650 (GRCm39) |
C270R |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,317,383 (GRCm39) |
S431P |
probably benign |
Het |
Efcab12 |
T |
C |
6: 115,791,611 (GRCm39) |
|
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,181,992 (GRCm39) |
|
probably benign |
Het |
Enpp3 |
A |
T |
10: 24,652,767 (GRCm39) |
V730D |
possibly damaging |
Het |
Fam174b |
A |
G |
7: 73,390,512 (GRCm39) |
T88A |
probably benign |
Het |
Fancl |
A |
G |
11: 26,421,337 (GRCm39) |
K364E |
probably benign |
Het |
Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
Galc |
A |
G |
12: 98,188,906 (GRCm39) |
Y402H |
probably damaging |
Het |
Gga2 |
T |
C |
7: 121,598,123 (GRCm39) |
N324D |
possibly damaging |
Het |
Hc |
G |
T |
2: 34,918,086 (GRCm39) |
F732L |
probably damaging |
Het |
Heca |
T |
C |
10: 17,791,463 (GRCm39) |
M198V |
probably benign |
Het |
Herc6 |
C |
A |
6: 57,596,586 (GRCm39) |
H509N |
probably benign |
Het |
Irf2bpl |
A |
T |
12: 86,929,398 (GRCm39) |
M425K |
probably benign |
Het |
Mael |
C |
T |
1: 166,066,159 (GRCm39) |
G26D |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,135,906 (GRCm39) |
T2241A |
probably benign |
Het |
Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
G |
12: 66,701,894 (GRCm39) |
S505P |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 117,992,783 (GRCm39) |
|
probably benign |
Het |
Mex3b |
A |
T |
7: 82,518,312 (GRCm39) |
E209V |
probably damaging |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,154 (GRCm39) |
E279G |
possibly damaging |
Het |
Ms4a20 |
A |
T |
19: 11,093,801 (GRCm39) |
Y10* |
probably null |
Het |
Nfe2l1 |
A |
T |
11: 96,718,439 (GRCm39) |
L32Q |
probably damaging |
Het |
Npas1 |
C |
T |
7: 16,195,818 (GRCm39) |
V285I |
probably benign |
Het |
Or5e1 |
T |
A |
7: 108,354,781 (GRCm39) |
C239* |
probably null |
Het |
Or5h19 |
C |
T |
16: 58,856,456 (GRCm39) |
V215I |
probably benign |
Het |
Or9i14 |
T |
C |
19: 13,792,342 (GRCm39) |
N204S |
probably benign |
Het |
Osr1 |
A |
G |
12: 9,629,639 (GRCm39) |
T171A |
probably benign |
Het |
Pramel27 |
A |
G |
4: 143,578,401 (GRCm39) |
I220M |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Simc1 |
T |
C |
13: 54,674,417 (GRCm39) |
Y922H |
probably damaging |
Het |
Slc25a39 |
A |
G |
11: 102,297,056 (GRCm39) |
F56L |
probably benign |
Het |
Smg8 |
A |
G |
11: 86,976,948 (GRCm39) |
L211P |
probably damaging |
Het |
Sncaip |
A |
G |
18: 53,040,400 (GRCm39) |
S805G |
probably benign |
Het |
Sra1 |
T |
C |
18: 36,809,662 (GRCm39) |
|
probably benign |
Het |
Tas2r104 |
T |
G |
6: 131,662,055 (GRCm39) |
D218A |
probably damaging |
Het |
Unc45b |
A |
G |
11: 82,802,686 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,075,040 (GRCm39) |
|
probably null |
Het |
Washc2 |
T |
A |
6: 116,225,007 (GRCm39) |
L785* |
probably null |
Het |
Zfp30 |
A |
G |
7: 29,493,063 (GRCm39) |
E439G |
probably damaging |
Het |
Zfp518a |
A |
G |
19: 40,901,072 (GRCm39) |
T334A |
probably benign |
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 |
IGL03301:Ppp3cb
|
APN |
14 |
20,574,052 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAATTCTTACCCTGCATCTTGAGCTTCA -3'
(R):5'- GGTGGACTTTCACCAGAAATACACACA -3'
Sequencing Primer
(F):5'- ACACACTGCTGGATAGCTGT -3'
(R):5'- ACTATACTCAAAGTTGGGGTCAC -3'
|
Posted On |
2013-05-09 |