Incidental Mutation 'R5105:Ppp3cb'
| ID |
401999 |
| 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 |
042693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5105 (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 20559490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 422
(V422A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022355]
[ENSMUST00000159027]
[ENSMUST00000161445]
[ENSMUST00000161989]
|
| AlphaFold |
P48453 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022355
AA Change: V422A
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: V422A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
PP2Ac
|
65 |
356 |
5.03e-166 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159027
AA Change: V422A
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: V422A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
PP2Ac
|
65 |
356 |
5.03e-166 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161445
AA Change: V421A
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: V421A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
PP2Ac
|
65 |
356 |
5.03e-166 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161989
AA Change: V422A
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: V422A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162107
|
| Meta Mutation Damage Score |
0.3239 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
96% (52/54) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btbd8 |
T |
G |
5: 107,658,337 (GRCm39) |
S1124A |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,830,941 (GRCm39) |
S445P |
probably damaging |
Het |
| Ccdc92 |
G |
A |
5: 124,912,858 (GRCm39) |
P224S |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,741,939 (GRCm39) |
V125A |
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,999,612 (GRCm39) |
C2159S |
probably benign |
Het |
| Col1a1 |
G |
T |
11: 94,833,211 (GRCm39) |
R404L |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,725,862 (GRCm39) |
M1382K |
possibly damaging |
Het |
| Cyp4a12b |
T |
C |
4: 115,290,958 (GRCm39) |
S329P |
probably damaging |
Het |
| Dclk1 |
T |
G |
3: 55,163,360 (GRCm39) |
S151A |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,894,864 (GRCm39) |
V202E |
probably benign |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,888,546 (GRCm39) |
E3050G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,584,366 (GRCm39) |
F590I |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 101,992,631 (GRCm39) |
Y63H |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,520,110 (GRCm39) |
E452G |
possibly damaging |
Het |
| Gpx3 |
A |
T |
11: 54,797,980 (GRCm39) |
T39S |
possibly damaging |
Het |
| Grin2b |
T |
A |
6: 135,709,439 (GRCm39) |
Y1369F |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,667,396 (GRCm39) |
N350K |
probably benign |
Het |
| Kdm5d |
A |
G |
Y: 941,752 (GRCm39) |
K1318E |
probably benign |
Het |
| Large1 |
A |
T |
8: 73,578,872 (GRCm39) |
Y444* |
probably null |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
| Lrrc47 |
A |
G |
4: 154,096,673 (GRCm39) |
Q156R |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,704,632 (GRCm39) |
L220P |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,355,814 (GRCm39) |
D273G |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,988,644 (GRCm39) |
I981F |
probably damaging |
Het |
| Or1q1 |
G |
A |
2: 36,887,469 (GRCm39) |
|
probably null |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or5aq1 |
A |
G |
2: 86,966,554 (GRCm39) |
I37T |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,462 (GRCm39) |
Y74H |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,853,694 (GRCm39) |
V46A |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,700,585 (GRCm39) |
T1784A |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,007,564 (GRCm39) |
T472I |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,318,313 (GRCm39) |
E417G |
probably damaging |
Het |
| Shisa2 |
A |
T |
14: 59,867,263 (GRCm39) |
T172S |
possibly damaging |
Het |
| Siglec1 |
T |
A |
2: 130,922,320 (GRCm39) |
Q585L |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,213,579 (GRCm39) |
M716K |
possibly damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Stxbp5l |
C |
A |
16: 36,962,734 (GRCm39) |
V774F |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,568,259 (GRCm39) |
F699S |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,673,509 (GRCm39) |
V251A |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,649,471 (GRCm39) |
N560K |
probably benign |
Het |
| Trpv4 |
T |
A |
5: 114,764,981 (GRCm39) |
I678F |
probably damaging |
Het |
| Ttc3 |
A |
T |
16: 94,267,793 (GRCm39) |
H1935L |
possibly damaging |
Het |
| Vmn2r59 |
T |
A |
7: 41,696,529 (GRCm39) |
Y71F |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,003,415 (GRCm39) |
I2900T |
probably damaging |
Het |
| Zfp184 |
A |
G |
13: 22,143,799 (GRCm39) |
T502A |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,551 (GRCm39) |
I1019V |
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 |
|
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 |
|
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'- ACCAGCAATCTTTCCTGGTC -3'
(R):5'- TCTCCATGTGAGCTGGTAGC -3'
Sequencing Primer
(F):5'- AGGTCCTGGATTTGATACCAGCAC -3'
(R):5'- GCCCTAAACTTGAGCCTTT -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation