Incidental Mutation 'R5740:Ppp3cb'
| ID |
444759 |
| 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 |
043196-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5740 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20551664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 489
(I489N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022353]
[ENSMUST00000022355]
[ENSMUST00000159027]
[ENSMUST00000161445]
|
| AlphaFold |
P48453 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022353
|
| SMART Domains |
Protein: ENSMUSP00000022353
Gene: ENSMUSG00000021815
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
104 |
148 |
3.4e-12 |
PFAM |
|
low complexity region
|
308 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022355
AA Change: I479N
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: I479N
| 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: I489N
PolyPhen 2
Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: I489N
| 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: I488N
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: I488N
| 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: ENSMUST00000162217
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513I03Rik |
G |
A |
10: 120,614,413 (GRCm39) |
|
probably benign |
Het |
| Arrdc5 |
T |
A |
17: 56,604,838 (GRCm39) |
N150Y |
probably benign |
Het |
| Bag1 |
T |
C |
4: 40,941,526 (GRCm39) |
Q269R |
probably null |
Het |
| C7 |
T |
C |
15: 5,086,522 (GRCm39) |
N40D |
probably benign |
Het |
| Ccnt1 |
T |
C |
15: 98,442,381 (GRCm39) |
I296V |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,376,996 (GRCm39) |
G450S |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,082,178 (GRCm39) |
T509A |
probably benign |
Het |
| Fgg |
A |
T |
3: 82,918,832 (GRCm39) |
T282S |
probably benign |
Het |
| Fzd7 |
A |
G |
1: 59,522,839 (GRCm39) |
M241V |
probably benign |
Het |
| Gja1 |
G |
A |
10: 56,264,285 (GRCm39) |
V215M |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,739,362 (GRCm39) |
L2567P |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 48,989,573 (GRCm39) |
N819D |
probably damaging |
Het |
| Grik4 |
C |
T |
9: 42,719,863 (GRCm39) |
R3H |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,926,762 (GRCm39) |
Y1079C |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,220 (GRCm39) |
E512G |
possibly damaging |
Het |
| Ino80 |
T |
C |
2: 119,261,510 (GRCm39) |
D718G |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,257,574 (GRCm39) |
R258K |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,239,824 (GRCm39) |
K73E |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,235,649 (GRCm39) |
I918V |
probably damaging |
Het |
| M1ap |
T |
C |
6: 82,958,903 (GRCm39) |
V178A |
probably damaging |
Het |
| Mcub |
A |
T |
3: 129,712,374 (GRCm39) |
M167K |
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,225,182 (GRCm39) |
K465N |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,569,009 (GRCm39) |
|
probably null |
Het |
| Ncbp3 |
T |
A |
11: 72,944,323 (GRCm39) |
N108K |
possibly damaging |
Het |
| Npepps |
A |
T |
11: 97,126,894 (GRCm39) |
D455E |
possibly damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,926 (GRCm39) |
M256V |
probably benign |
Het |
| Pan2 |
G |
A |
10: 128,144,033 (GRCm39) |
G128S |
probably damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,658,716 (GRCm39) |
T134A |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,399 (GRCm39) |
E596G |
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,003,164 (GRCm39) |
S1619P |
possibly damaging |
Het |
| Slc46a3 |
A |
T |
5: 147,816,643 (GRCm39) |
C387* |
probably null |
Het |
| Slc5a5 |
G |
T |
8: 71,341,561 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,721,718 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
T |
C |
3: 102,091,450 (GRCm39) |
D212G |
probably damaging |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,176 (GRCm39) |
I160N |
probably benign |
Het |
| Vmn2r118 |
C |
T |
17: 55,900,103 (GRCm39) |
M600I |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,614,654 (GRCm39) |
I387V |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,581 (GRCm39) |
R575G |
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 |
|
|
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'- AAGCACAATGGTTTCTTCAGAG -3'
(R):5'- AGACTCAAATGGGGATAATTCAACC -3'
Sequencing Primer
(F):5'- GACATTTATCATCACCTTGGTCAAC -3'
(R):5'- CATTGTTTTTGAGAACTCAGA -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation