Incidental Mutation 'R9136:Ppp3cb'
| ID |
694044 |
| 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 |
068931-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9136 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20581867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 49
(I49M)
|
| 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: I49M
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: I49M
| 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: ENSMUST00000159027
AA Change: I49M
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: I49M
| 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: I49M
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: I49M
| 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: I49M
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: I49M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| 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 |
A |
G |
17: 24,596,807 (GRCm39) |
Q420R |
probably benign |
Het |
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Acsl5 |
A |
T |
19: 55,266,400 (GRCm39) |
K109N |
probably benign |
Het |
| Agpat3 |
T |
C |
10: 78,120,893 (GRCm39) |
N95S |
probably damaging |
Het |
| Akna |
C |
T |
4: 63,310,392 (GRCm39) |
D451N |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,392,278 (GRCm39) |
D1797E |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,959,962 (GRCm39) |
N691S |
probably damaging |
Het |
| Arrdc1 |
A |
T |
2: 24,817,193 (GRCm39) |
|
probably benign |
Het |
| Ccdc63 |
G |
A |
5: 122,259,146 (GRCm39) |
R251W |
probably damaging |
Het |
| Cd70 |
T |
C |
17: 57,453,152 (GRCm39) |
T171A |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,403,352 (GRCm39) |
S382T |
probably benign |
Het |
| Cox5b-ps |
A |
C |
13: 21,685,587 (GRCm39) |
M1R |
probably null |
Het |
| Ddx19b |
G |
T |
8: 111,734,906 (GRCm39) |
D487E |
probably benign |
Het |
| Dlgap4 |
G |
A |
2: 156,588,075 (GRCm39) |
E640K |
possibly damaging |
Het |
| Dtnbp1 |
A |
T |
13: 45,084,546 (GRCm39) |
F198Y |
possibly damaging |
Het |
| Epha10 |
T |
C |
4: 124,796,427 (GRCm39) |
Y379H |
|
Het |
| Eral1 |
A |
G |
11: 77,964,960 (GRCm39) |
I411T |
|
Het |
| Exd1 |
C |
T |
2: 119,359,385 (GRCm39) |
G193E |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 15,833,738 (GRCm39) |
A105S |
|
Het |
| Fbp2 |
C |
T |
13: 63,002,840 (GRCm39) |
V71M |
possibly damaging |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Grm5 |
G |
A |
7: 87,689,254 (GRCm39) |
V542I |
possibly damaging |
Het |
| Hdc |
C |
T |
2: 126,439,786 (GRCm39) |
|
probably null |
Het |
| Hspe1 |
G |
T |
1: 55,128,314 (GRCm39) |
K36N |
probably damaging |
Het |
| Hypk |
T |
A |
2: 121,287,636 (GRCm39) |
L17* |
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Immt |
C |
T |
6: 71,851,403 (GRCm39) |
T588I |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,936,364 (GRCm39) |
S179T |
probably benign |
Het |
| Krtap19-5 |
C |
T |
16: 88,693,246 (GRCm39) |
G22D |
unknown |
Het |
| Lipk |
A |
G |
19: 33,999,830 (GRCm39) |
D153G |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,750,090 (GRCm39) |
V1000A |
probably benign |
Het |
| Map3k7cl |
T |
C |
16: 87,391,227 (GRCm39) |
L117P |
probably damaging |
Het |
| Meikin |
A |
G |
11: 54,285,464 (GRCm39) |
E167G |
possibly damaging |
Het |
| Miox |
A |
G |
15: 89,220,740 (GRCm39) |
Y215C |
probably damaging |
Het |
| Mthfd1 |
T |
G |
12: 76,350,649 (GRCm39) |
M677R |
probably damaging |
Het |
| Ncoa7 |
G |
A |
10: 30,567,628 (GRCm39) |
S350L |
probably benign |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Nrg3 |
A |
T |
14: 38,119,262 (GRCm39) |
N403K |
possibly damaging |
Het |
| Nup210 |
T |
C |
6: 91,020,830 (GRCm39) |
T955A |
possibly damaging |
Het |
| Odf2l |
C |
A |
3: 144,851,698 (GRCm39) |
T82K |
|
Het |
| Or10ag56 |
A |
G |
2: 87,139,219 (GRCm39) |
I49V |
possibly damaging |
Het |
| Or1m1 |
T |
C |
9: 18,666,175 (GRCm39) |
Y252C |
probably damaging |
Het |
| Or4c108 |
T |
A |
2: 88,804,113 (GRCm39) |
M41L |
probably benign |
Het |
| Or8w1 |
A |
G |
2: 87,465,341 (GRCm39) |
V250A |
probably benign |
Het |
| Otud7b |
T |
A |
3: 96,059,815 (GRCm39) |
|
probably benign |
Het |
| Pcm1 |
C |
T |
8: 41,732,825 (GRCm39) |
S694L |
probably benign |
Het |
| Pex11b |
T |
C |
3: 96,551,259 (GRCm39) |
L248P |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,826,285 (GRCm39) |
I236N |
|
Het |
| Prorp |
C |
T |
12: 55,350,727 (GRCm39) |
P12L |
probably benign |
Het |
| Prr14l |
A |
C |
5: 32,986,080 (GRCm39) |
C1138W |
|
Het |
| Prss1 |
T |
G |
6: 41,438,280 (GRCm39) |
|
probably benign |
Het |
| Psg22 |
T |
A |
7: 18,460,811 (GRCm39) |
I480K |
probably damaging |
Het |
| Rgs21 |
A |
C |
1: 144,412,653 (GRCm39) |
F57C |
|
Het |
| Rngtt |
T |
A |
4: 33,404,218 (GRCm39) |
D468E |
probably damaging |
Het |
| Rorb |
A |
T |
19: 18,934,686 (GRCm39) |
V313E |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,697,203 (GRCm39) |
F1736S |
probably damaging |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Slitrk1 |
T |
C |
14: 109,148,981 (GRCm39) |
I577V |
|
Het |
| Sos2 |
C |
A |
12: 69,633,446 (GRCm39) |
E1143D |
possibly damaging |
Het |
| Spen |
T |
C |
4: 141,249,623 (GRCm39) |
D55G |
unknown |
Het |
| Stoml1 |
C |
A |
9: 58,168,236 (GRCm39) |
Q316K |
possibly damaging |
Het |
| Synpo2l |
C |
T |
14: 20,715,857 (GRCm39) |
A243T |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,473,125 (GRCm39) |
I974F |
possibly damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,067,092 (GRCm39) |
I545F |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,104,994 (GRCm39) |
D756G |
possibly damaging |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,973 (GRCm39) |
N393D |
possibly damaging |
Het |
| Vcl |
T |
A |
14: 21,057,344 (GRCm39) |
D505E |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,576,356 (GRCm39) |
|
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,204,816 (GRCm39) |
H207R |
|
Het |
| Zc3h7b |
A |
G |
15: 81,653,312 (GRCm39) |
D72G |
probably damaging |
Het |
| Zfp507 |
A |
T |
7: 35,475,883 (GRCm39) |
D813E |
probably damaging |
Het |
| Zfp704 |
T |
C |
3: 9,509,324 (GRCm39) |
S374G |
probably benign |
Het |
| Zfp97 |
G |
A |
17: 17,365,215 (GRCm39) |
C238Y |
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 |
|
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 |
|
|
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'- GGTAAACAGCTTTCTCTCCAATC -3'
(R):5'- GGCATGGGTCTCAAAATTACATAC -3'
Sequencing Primer
(F):5'- AGCTTTCTCTCCAATCAACTAAATAC -3'
(R):5'- AAGAACATGCTGGTGCTTTTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation