Incidental Mutation 'R5219:Ppp3cb'
| ID |
402242 |
| 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 |
042792-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5219 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 20578263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 162
(C162*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022355]
[ENSMUST00000159027]
[ENSMUST00000161445]
[ENSMUST00000161989]
|
| AlphaFold |
P48453 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022355
AA Change: C162*
|
| SMART Domains |
Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: C162*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
PP2Ac
|
65 |
356 |
5.03e-166 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159027
AA Change: C162*
|
| SMART Domains |
Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: C162*
| 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: ENSMUST00000161332
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161445
AA Change: C162*
|
| SMART Domains |
Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: C162*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
PP2Ac
|
65 |
356 |
5.03e-166 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161989
AA Change: C162*
|
| SMART Domains |
Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: C162*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (68/70) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700063H04Rik |
A |
G |
6: 122,369,299 (GRCm39) |
|
noncoding transcript |
Het |
| 4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
| A2m |
A |
G |
6: 121,653,909 (GRCm39) |
H1414R |
possibly damaging |
Het |
| A530064D06Rik |
G |
T |
17: 48,470,518 (GRCm39) |
D154E |
possibly damaging |
Het |
| Adam34 |
C |
T |
8: 44,104,461 (GRCm39) |
D395N |
probably benign |
Het |
| Agl |
A |
G |
3: 116,572,370 (GRCm39) |
V195A |
possibly damaging |
Het |
| Aip |
T |
C |
19: 4,165,180 (GRCm39) |
I230V |
probably benign |
Het |
| Akap10 |
A |
C |
11: 61,813,617 (GRCm39) |
S43A |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,545,651 (GRCm39) |
E1026G |
probably benign |
Het |
| Arid5b |
T |
A |
10: 68,113,940 (GRCm39) |
K32N |
probably benign |
Het |
| Atp6v0a2 |
C |
A |
5: 124,790,249 (GRCm39) |
N477K |
probably damaging |
Het |
| Atr |
A |
C |
9: 95,763,291 (GRCm39) |
I1062L |
probably damaging |
Het |
| Ces2h |
T |
C |
8: 105,743,278 (GRCm39) |
V171A |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,342,215 (GRCm39) |
|
probably null |
Het |
| Cpne3 |
A |
T |
4: 19,526,366 (GRCm39) |
L391H |
probably damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,490,675 (GRCm39) |
L715P |
probably damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,314 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
C |
T |
2: 5,919,627 (GRCm39) |
A585T |
probably benign |
Het |
| Elapor2 |
G |
T |
5: 9,511,486 (GRCm39) |
W949C |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,803,510 (GRCm39) |
A1705T |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,412,110 (GRCm39) |
V252D |
probably damaging |
Het |
| Gm11677 |
A |
G |
11: 111,616,225 (GRCm39) |
|
noncoding transcript |
Het |
| Gp6 |
A |
G |
7: 4,371,998 (GRCm39) |
V252A |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,610,785 (GRCm39) |
V176A |
probably benign |
Het |
| Irx2 |
G |
C |
13: 72,779,420 (GRCm39) |
A235P |
probably damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,649,120 (GRCm39) |
C219Y |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,367,785 (GRCm39) |
V431E |
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,791,387 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
T |
7: 27,026,746 (GRCm39) |
W500R |
probably benign |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,668,711 (GRCm39) |
I127M |
probably benign |
Het |
| Nxph1 |
T |
A |
6: 9,247,765 (GRCm39) |
Y245* |
probably null |
Het |
| Or4a73 |
C |
T |
2: 89,421,046 (GRCm39) |
V138I |
probably benign |
Het |
| Or7s1a-ps1 |
T |
C |
9: 18,843,990 (GRCm39) |
|
probably benign |
Het |
| Or8g34 |
G |
T |
9: 39,373,563 (GRCm39) |
V276L |
probably benign |
Het |
| Or9k7 |
T |
A |
10: 130,046,793 (GRCm39) |
T69S |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,447,966 (GRCm39) |
F71S |
probably damaging |
Het |
| Pccb |
A |
T |
9: 100,867,262 (GRCm39) |
Y404* |
probably null |
Het |
| Pde2a |
A |
C |
7: 101,153,811 (GRCm39) |
I460L |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,353,511 (GRCm39) |
S652G |
probably benign |
Het |
| Prss38 |
A |
G |
11: 59,266,309 (GRCm39) |
|
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,821,813 (GRCm39) |
|
probably benign |
Het |
| Rgp1 |
C |
T |
4: 43,579,440 (GRCm39) |
A16V |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Scnn1g |
T |
A |
7: 121,365,489 (GRCm39) |
Y514N |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,896,501 (GRCm39) |
D134G |
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,529,111 (GRCm39) |
|
probably benign |
Het |
| Slc6a1 |
A |
T |
6: 114,287,182 (GRCm39) |
M388L |
probably benign |
Het |
| Ssbp3 |
A |
T |
4: 106,904,655 (GRCm39) |
N350I |
probably damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
A |
T |
5: 87,726,445 (GRCm39) |
I223N |
probably damaging |
Het |
| Tcf20 |
C |
A |
15: 82,740,582 (GRCm39) |
G290C |
probably damaging |
Het |
| Tekt2 |
G |
T |
4: 126,216,057 (GRCm39) |
T412K |
possibly damaging |
Het |
| Trabd2b |
A |
G |
4: 114,460,007 (GRCm39) |
T382A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubr4 |
C |
A |
4: 139,204,543 (GRCm39) |
Y4818* |
probably null |
Het |
| Vmn1r204 |
A |
T |
13: 22,741,069 (GRCm39) |
R233S |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,382 (GRCm39) |
Y165H |
probably damaging |
Het |
| Yaf2 |
A |
C |
15: 93,183,355 (GRCm39) |
C152G |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,820,703 (GRCm39) |
F751I |
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 |
|
R5105:Ppp3cb
|
UTSW |
14 |
20,559,490 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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'- TTTCAAAAGTATACACTGGTGGTC -3'
(R):5'- AGGAAAGAAGCCATTTTGTTAGGC -3'
Sequencing Primer
(F):5'- ATACACTGGTGGTCATGGAATG -3'
(R):5'- GAAAGTTCACTGGAAACGT -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation