Incidental Mutation 'R4603:Ppp3cb'
| ID |
345812 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4603 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20570714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 339
(N339S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022355]
[ENSMUST00000159027]
[ENSMUST00000161445]
[ENSMUST00000161989]
|
| AlphaFold |
P48453 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022355
AA Change: N339S
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: N339S
| 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: N339S
PolyPhen 2
Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: N339S
| 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 benign
Transcript: ENSMUST00000161445
AA Change: N339S
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: N339S
| 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: ENSMUST00000161989
AA Change: N339S
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: N339S
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223854
|
| Meta Mutation Damage Score |
0.2280 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
A |
G |
2: 127,029,019 (GRCm39) |
V60A |
probably damaging |
Het |
| AAdacl4fm3 |
A |
G |
4: 144,429,798 (GRCm39) |
V397A |
probably benign |
Het |
| Afg3l1 |
A |
G |
8: 124,228,674 (GRCm39) |
T747A |
probably benign |
Het |
| Aldh4a1 |
T |
C |
4: 139,370,740 (GRCm39) |
S408P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,825,665 (GRCm39) |
T445A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,797,792 (GRCm39) |
E589G |
possibly damaging |
Het |
| Arhgef12 |
C |
T |
9: 42,921,489 (GRCm39) |
G329R |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,063,532 (GRCm39) |
C393S |
possibly damaging |
Het |
| Bpnt2 |
T |
C |
4: 4,767,878 (GRCm39) |
I299M |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,459,630 (GRCm39) |
C302S |
possibly damaging |
Het |
| Ccdc169 |
T |
A |
3: 55,058,226 (GRCm39) |
M4K |
probably benign |
Het |
| Ccdc66 |
T |
C |
14: 27,222,377 (GRCm39) |
N122S |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
| Cdc73 |
T |
C |
1: 143,553,595 (GRCm39) |
|
probably null |
Het |
| Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
| Cse1l |
T |
C |
2: 166,786,452 (GRCm39) |
V604A |
probably benign |
Het |
| Cxcr1 |
G |
C |
1: 74,231,896 (GRCm39) |
T42S |
probably benign |
Het |
| Dhx9 |
TCC |
TC |
1: 153,342,797 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
| Erp27 |
A |
G |
6: 136,896,947 (GRCm39) |
V85A |
probably damaging |
Het |
| Fam3d |
T |
A |
14: 8,358,429 (GRCm38) |
S57C |
probably damaging |
Het |
| Fgf8 |
T |
G |
19: 45,726,592 (GRCm39) |
I137L |
probably benign |
Het |
| Fgfrl1 |
T |
A |
5: 108,851,401 (GRCm39) |
V106D |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,169,784 (GRCm39) |
W613R |
probably damaging |
Het |
| Gabarap |
A |
G |
11: 69,885,287 (GRCm39) |
N66S |
probably benign |
Het |
| Gp1bb |
A |
T |
16: 18,439,893 (GRCm39) |
L67Q |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,654,696 (GRCm39) |
|
probably null |
Het |
| Gstt1 |
T |
C |
10: 75,629,969 (GRCm39) |
Y48C |
probably damaging |
Het |
| Iqcg |
C |
T |
16: 32,861,134 (GRCm39) |
R194K |
probably null |
Het |
| Iqcg |
C |
G |
16: 32,861,133 (GRCm39) |
|
probably null |
Het |
| Kcnj3 |
C |
T |
2: 55,336,991 (GRCm39) |
R286* |
probably null |
Het |
| Klhl38 |
T |
A |
15: 58,186,616 (GRCm39) |
I38F |
possibly damaging |
Het |
| Kmo |
C |
A |
1: 175,479,208 (GRCm39) |
P248Q |
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,262,086 (GRCm39) |
D354E |
probably damaging |
Het |
| Mcpt9 |
C |
T |
14: 56,266,049 (GRCm39) |
V60M |
probably damaging |
Het |
| Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
| Mprip |
T |
C |
11: 59,622,399 (GRCm39) |
V162A |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Myocd |
T |
C |
11: 65,078,571 (GRCm39) |
D408G |
possibly damaging |
Het |
| Myt1l |
A |
G |
12: 29,892,539 (GRCm39) |
T59A |
probably benign |
Het |
| Ndufb7 |
A |
G |
8: 84,293,494 (GRCm39) |
E16G |
probably damaging |
Het |
| Ndufs7 |
T |
A |
10: 80,092,501 (GRCm39) |
Y203* |
probably null |
Het |
| Nploc4 |
C |
T |
11: 120,276,613 (GRCm39) |
V478I |
probably benign |
Het |
| Nrap |
A |
G |
19: 56,323,456 (GRCm39) |
|
probably null |
Het |
| Or5e1 |
A |
T |
7: 108,354,834 (GRCm39) |
Y257F |
probably damaging |
Het |
| Or6c207 |
G |
A |
10: 129,104,274 (GRCm39) |
A306V |
probably benign |
Het |
| Pald1 |
T |
C |
10: 61,184,395 (GRCm39) |
T241A |
probably benign |
Het |
| Pdss2 |
T |
C |
10: 43,248,197 (GRCm39) |
S234P |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,217,803 (GRCm39) |
V335E |
probably damaging |
Het |
| Ppip5k2 |
C |
A |
1: 97,682,861 (GRCm39) |
K187N |
probably damaging |
Het |
| Ppp4r1 |
T |
G |
17: 66,120,459 (GRCm39) |
C181G |
probably damaging |
Het |
| Pramel27 |
T |
A |
4: 143,579,451 (GRCm39) |
H345Q |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,628,688 (GRCm39) |
E3478K |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,072,147 (GRCm39) |
|
probably benign |
Het |
| Psme3 |
T |
A |
11: 101,208,435 (GRCm39) |
|
probably null |
Het |
| Ptpre |
C |
A |
7: 135,269,372 (GRCm39) |
Y284* |
probably null |
Het |
| Scnn1a |
A |
G |
6: 125,299,123 (GRCm39) |
I94V |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Shc2 |
T |
C |
10: 79,459,690 (GRCm39) |
D418G |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,075,389 (GRCm39) |
D661E |
probably damaging |
Het |
| Slc35e2 |
T |
C |
4: 155,702,106 (GRCm39) |
F290S |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,301,402 (GRCm39) |
|
probably null |
Het |
| Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
| Tmem270 |
C |
A |
5: 134,930,482 (GRCm39) |
E260* |
probably null |
Het |
| Tmtc2 |
T |
C |
10: 105,249,391 (GRCm39) |
Y114C |
probably benign |
Het |
| Trim46 |
A |
G |
3: 89,150,958 (GRCm39) |
F188S |
probably benign |
Het |
| Trim7 |
T |
A |
11: 48,728,355 (GRCm39) |
M1K |
probably null |
Het |
| Txnip |
A |
G |
3: 96,465,604 (GRCm39) |
E18G |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,414,633 (GRCm39) |
N2859D |
probably damaging |
Het |
| Vmn2r94 |
T |
A |
17: 18,477,647 (GRCm39) |
I255F |
probably benign |
Het |
| Xkr5 |
T |
A |
8: 18,983,733 (GRCm39) |
N603I |
possibly damaging |
Het |
| Zfp512 |
C |
T |
5: 31,637,570 (GRCm39) |
A497V |
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,830,970 (GRCm39) |
N345S |
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 |
|
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'- TGTAAGCACAGTGGAACCAG -3'
(R):5'- AATTGCTCATGGCCCTTCTG -3'
Sequencing Primer
(F):5'- CACAGTGGAACCAGGCTTTAATTTCC -3'
(R):5'- TTACTCTCAGCATGCAGGAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation