Incidental Mutation 'R4866:Ppp3cb'
ID |
374937 |
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 |
042476-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4866 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20573911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 275
(C275R)
|
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: C275R
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000022355 Gene: ENSMUSG00000021816 AA Change: C275R
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: C275R
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125722 Gene: ENSMUSG00000021816 AA Change: C275R
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: C275R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125630 Gene: ENSMUSG00000021816 AA Change: C275R
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: C275R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125582 Gene: ENSMUSG00000021816 AA Change: C275R
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 |
0.8658 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
99% (79/80) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
C |
T |
17: 24,593,274 (GRCm39) |
R224C |
probably damaging |
Het |
Abcc5 |
A |
T |
16: 20,241,182 (GRCm39) |
M1K |
probably null |
Het |
Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
Adam5 |
A |
C |
8: 25,232,172 (GRCm39) |
|
probably null |
Het |
Adam5 |
G |
A |
8: 25,271,619 (GRCm39) |
T596I |
probably damaging |
Het |
Apoa2 |
T |
C |
1: 171,053,369 (GRCm39) |
|
probably null |
Het |
Atad1 |
A |
T |
19: 32,679,964 (GRCm39) |
H79Q |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 59,928,916 (GRCm39) |
D1046G |
probably damaging |
Het |
Bcam |
A |
G |
7: 19,499,397 (GRCm39) |
Y209H |
probably benign |
Het |
Brpf1 |
G |
A |
6: 113,299,431 (GRCm39) |
V1120I |
probably damaging |
Het |
Catsperb |
G |
A |
12: 101,474,208 (GRCm39) |
C302Y |
probably damaging |
Het |
Cbl |
A |
G |
9: 44,064,166 (GRCm39) |
V790A |
probably benign |
Het |
Ccdc60 |
T |
C |
5: 116,310,549 (GRCm39) |
D171G |
probably damaging |
Het |
Cd300c2 |
A |
T |
11: 114,891,807 (GRCm39) |
C22* |
probably null |
Het |
Cdan1 |
C |
A |
2: 120,561,928 (GRCm39) |
|
probably benign |
Het |
Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
Cfap410 |
T |
A |
10: 77,817,413 (GRCm39) |
|
probably null |
Het |
Cfap65 |
T |
C |
1: 74,964,716 (GRCm39) |
D479G |
probably damaging |
Het |
Cmbl |
A |
G |
15: 31,585,490 (GRCm39) |
K113E |
probably benign |
Het |
Cog6 |
G |
A |
3: 52,918,019 (GRCm39) |
T173I |
probably benign |
Het |
Cts6 |
T |
A |
13: 61,350,090 (GRCm39) |
|
probably null |
Het |
Cyp11a1 |
G |
A |
9: 57,933,380 (GRCm39) |
V413M |
probably damaging |
Het |
Cyp2c39 |
G |
A |
19: 39,502,020 (GRCm39) |
M136I |
probably benign |
Het |
Dclre1b |
A |
T |
3: 103,715,412 (GRCm39) |
Y29N |
probably damaging |
Het |
Depdc1a |
T |
A |
3: 159,221,764 (GRCm39) |
I236K |
probably damaging |
Het |
Dhx36 |
A |
T |
3: 62,380,198 (GRCm39) |
Y833N |
probably damaging |
Het |
Dop1b |
G |
T |
16: 93,560,318 (GRCm39) |
|
probably null |
Het |
Elovl3 |
A |
G |
19: 46,120,603 (GRCm39) |
E32G |
possibly damaging |
Het |
Entrep1 |
A |
G |
19: 23,952,790 (GRCm39) |
S507P |
possibly damaging |
Het |
Epcam |
T |
C |
17: 87,951,049 (GRCm39) |
V212A |
possibly damaging |
Het |
Fcrl2 |
A |
T |
3: 87,170,773 (GRCm39) |
C4S |
possibly damaging |
Het |
Galnt16 |
T |
C |
12: 80,630,851 (GRCm39) |
Y310H |
probably damaging |
Het |
Gm12789 |
G |
A |
4: 101,846,182 (GRCm39) |
|
probably benign |
Het |
Gspt1 |
C |
T |
16: 11,040,529 (GRCm39) |
R593H |
possibly damaging |
Het |
Hmcn2 |
A |
T |
2: 31,279,403 (GRCm39) |
T1802S |
possibly damaging |
Het |
Igha |
A |
G |
12: 113,223,129 (GRCm39) |
V166A |
probably benign |
Het |
Itfg2 |
A |
G |
6: 128,393,279 (GRCm39) |
|
probably benign |
Het |
Jund |
T |
C |
8: 71,152,254 (GRCm39) |
V183A |
probably damaging |
Het |
Katnb1 |
T |
C |
8: 95,824,132 (GRCm39) |
S471P |
possibly damaging |
Het |
Kazn |
A |
G |
4: 141,832,216 (GRCm39) |
F661S |
unknown |
Het |
Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
Lgr5 |
C |
T |
10: 115,288,590 (GRCm39) |
V661I |
probably benign |
Het |
Lvrn |
G |
T |
18: 47,026,768 (GRCm39) |
A789S |
probably damaging |
Het |
Mapk10 |
T |
C |
5: 103,111,391 (GRCm39) |
D351G |
probably damaging |
Het |
Mga |
T |
A |
2: 119,794,535 (GRCm39) |
C2622S |
possibly damaging |
Het |
Mios |
T |
G |
6: 8,214,857 (GRCm39) |
F18V |
probably damaging |
Het |
Mllt6 |
A |
G |
11: 97,565,285 (GRCm39) |
D575G |
probably damaging |
Het |
Mmp10 |
G |
A |
9: 7,508,190 (GRCm39) |
V439M |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,139,453 (GRCm39) |
D590G |
probably benign |
Het |
Ndufs2 |
C |
T |
1: 171,074,618 (GRCm39) |
G14R |
probably benign |
Het |
Or10ad1b |
T |
A |
15: 98,125,371 (GRCm39) |
I52F |
probably damaging |
Het |
Or51a7 |
A |
T |
7: 102,614,927 (GRCm39) |
M207L |
probably benign |
Het |
Or56a4 |
T |
C |
7: 104,806,514 (GRCm39) |
Y125C |
possibly damaging |
Het |
Or8g26 |
A |
G |
9: 39,096,367 (GRCm39) |
K298E |
probably damaging |
Het |
Plau |
G |
T |
14: 20,887,872 (GRCm39) |
V39L |
probably benign |
Het |
Ppp4r4 |
T |
G |
12: 103,566,706 (GRCm39) |
M51R |
possibly damaging |
Het |
Prr5 |
A |
G |
15: 84,626,105 (GRCm39) |
Y60C |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,402,159 (GRCm39) |
D1023G |
probably damaging |
Het |
Raly |
T |
A |
2: 154,703,816 (GRCm39) |
V129E |
probably damaging |
Het |
Rsph10b |
A |
G |
5: 143,885,347 (GRCm39) |
E249G |
probably benign |
Het |
Sart1 |
A |
C |
19: 5,432,248 (GRCm39) |
L577W |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,964,729 (GRCm39) |
E189G |
possibly damaging |
Het |
Slc22a2 |
G |
T |
17: 12,803,316 (GRCm39) |
C50F |
probably damaging |
Het |
Spem1 |
A |
T |
11: 69,711,755 (GRCm39) |
V303E |
probably damaging |
Het |
Tgfb3 |
A |
G |
12: 86,124,588 (GRCm39) |
V40A |
possibly damaging |
Het |
Ttl |
T |
C |
2: 128,923,147 (GRCm39) |
S163P |
probably damaging |
Het |
Ttll9 |
C |
A |
2: 152,844,920 (GRCm39) |
N429K |
probably benign |
Het |
Uggt1 |
G |
A |
1: 36,241,936 (GRCm39) |
R333* |
probably null |
Het |
Zfhx2 |
A |
G |
14: 55,302,993 (GRCm39) |
S1664P |
possibly damaging |
Het |
Zfp51 |
T |
A |
17: 21,682,012 (GRCm39) |
D70E |
possibly damaging |
Het |
Zfp592 |
T |
A |
7: 80,691,607 (GRCm39) |
V1262E |
probably damaging |
Het |
Zfp595 |
C |
A |
13: 67,465,760 (GRCm39) |
G168C |
probably damaging |
Het |
Zswim9 |
A |
T |
7: 12,995,095 (GRCm39) |
S354T |
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 |
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 |
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 |
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'- AATGAAGGAAACCCTGTAGTTTGAC -3'
(R):5'- GTCTGATCCTTCTGAAGACTTTGG -3'
Sequencing Primer
(F):5'- GGAAACCCTGTAGTTTGACTTTTTC -3'
(R):5'- GATCCTTCTGAAGACTTTGGAAATG -3'
|
Posted On |
2016-03-17 |