Incidental Mutation 'R1061:Ppp3cb'
| ID |
94535 |
| 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 |
039147-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1061 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
| Type of Mutation |
splice site (10 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 20558682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022355]
[ENSMUST00000159027]
[ENSMUST00000161445]
[ENSMUST00000161989]
|
| AlphaFold |
P48453 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022355
|
| SMART Domains |
Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
| 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
|
| SMART Domains |
Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
| 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: ENSMUST00000161445
|
| SMART Domains |
Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
| 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: V460G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: V460G
| 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: ENSMUST00000162217
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,108,153 (GRCm39) |
A715T |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 107,983,005 (GRCm39) |
Y641H |
probably damaging |
Het |
| Aqp4 |
A |
T |
18: 15,531,248 (GRCm39) |
V171E |
probably damaging |
Het |
| Arid4a |
T |
A |
12: 71,121,729 (GRCm39) |
S381R |
probably damaging |
Het |
| Armc8 |
T |
G |
9: 99,419,784 (GRCm39) |
N51H |
probably damaging |
Het |
| Asic5 |
T |
A |
3: 81,928,308 (GRCm39) |
Y424N |
probably damaging |
Het |
| Bcl11a |
A |
T |
11: 24,114,069 (GRCm39) |
K471* |
probably null |
Het |
| Birc6 |
A |
G |
17: 74,996,307 (GRCm39) |
T4494A |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,746,409 (GRCm39) |
I139T |
probably benign |
Het |
| Ccdc60 |
C |
A |
5: 116,310,527 (GRCm39) |
R178S |
possibly damaging |
Het |
| Cd163 |
C |
T |
6: 124,286,128 (GRCm39) |
A226V |
probably benign |
Het |
| Cibar2 |
C |
A |
8: 120,896,443 (GRCm39) |
|
probably null |
Het |
| Cog1 |
T |
G |
11: 113,542,863 (GRCm39) |
S170A |
probably benign |
Het |
| Cwc15 |
T |
C |
9: 14,419,211 (GRCm39) |
L169P |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,923,643 (GRCm39) |
D333E |
probably benign |
Het |
| Ddc |
C |
T |
11: 11,779,132 (GRCm39) |
V331I |
probably benign |
Het |
| Dlc1 |
T |
A |
8: 37,325,205 (GRCm39) |
T367S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,943,514 (GRCm39) |
D3183G |
possibly damaging |
Het |
| Eif2a |
T |
A |
3: 58,452,486 (GRCm39) |
Y165* |
probably null |
Het |
| Eml6 |
T |
C |
11: 29,727,267 (GRCm39) |
D1285G |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,713,008 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,187,883 (GRCm39) |
T1549A |
probably benign |
Het |
| Fezf2 |
T |
C |
14: 12,342,713 (GRCm38) |
Y384C |
probably damaging |
Het |
| Flvcr1 |
A |
T |
1: 190,740,370 (GRCm39) |
V550E |
probably benign |
Het |
| Gcm2 |
A |
G |
13: 41,259,347 (GRCm39) |
W41R |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,782,247 (GRCm39) |
M160K |
possibly damaging |
Het |
| Gpr61 |
C |
T |
3: 108,057,623 (GRCm39) |
R346H |
probably damaging |
Het |
| Hoxa5 |
A |
T |
6: 52,181,135 (GRCm39) |
S66T |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,541,883 (GRCm39) |
V781D |
possibly damaging |
Het |
| Kdm3b |
G |
A |
18: 34,929,915 (GRCm39) |
V220M |
probably damaging |
Het |
| Klhl25 |
T |
A |
7: 75,516,268 (GRCm39) |
Y391* |
probably null |
Het |
| Mc2r |
A |
T |
18: 68,540,880 (GRCm39) |
Y138N |
probably damaging |
Het |
| Mtap |
C |
A |
4: 89,074,821 (GRCm39) |
D106E |
probably benign |
Het |
| Nup43 |
G |
T |
10: 7,543,435 (GRCm39) |
W37L |
probably damaging |
Het |
| Nxpe2 |
T |
A |
9: 48,237,663 (GRCm39) |
E197D |
probably damaging |
Het |
| Odad1 |
T |
C |
7: 45,591,179 (GRCm39) |
I218T |
probably damaging |
Het |
| Or10d1c |
C |
A |
9: 38,893,779 (GRCm39) |
C187F |
probably damaging |
Het |
| Or55b4 |
T |
A |
7: 102,133,321 (GRCm39) |
*335C |
probably null |
Het |
| Or5p60 |
T |
C |
7: 107,723,663 (GRCm39) |
Y269C |
probably damaging |
Het |
| Or8h8 |
A |
T |
2: 86,753,126 (GRCm39) |
V250D |
possibly damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,605,611 (GRCm39) |
H186R |
probably damaging |
Het |
| Pklr |
C |
T |
3: 89,052,188 (GRCm39) |
R467C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,326,401 (GRCm39) |
N112D |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| R3hcc1l |
C |
T |
19: 42,571,865 (GRCm39) |
R135* |
probably null |
Het |
| Ralyl |
A |
C |
3: 14,180,761 (GRCm39) |
D68A |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| S100a1 |
T |
C |
3: 90,418,619 (GRCm39) |
N65S |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,624,729 (GRCm39) |
M531K |
probably damaging |
Het |
| Slc5a5 |
T |
A |
8: 71,342,865 (GRCm39) |
M232L |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,350,305 (GRCm39) |
N1054K |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,570,408 (GRCm39) |
N1427D |
probably benign |
Het |
| Tns1 |
A |
C |
1: 73,956,831 (GRCm39) |
V530G |
probably damaging |
Het |
| Trcg1 |
C |
A |
9: 57,153,156 (GRCm39) |
Q600K |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,468,131 (GRCm39) |
E40G |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,334,420 (GRCm39) |
F1138S |
possibly damaging |
Het |
| Vmn2r26 |
C |
T |
6: 124,038,603 (GRCm39) |
T726I |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,148,440 (GRCm39) |
R112* |
probably null |
Het |
| Vwa2 |
G |
T |
19: 56,897,426 (GRCm39) |
R577L |
probably benign |
Het |
| Vwa3b |
A |
C |
1: 37,196,511 (GRCm39) |
Q46P |
probably damaging |
Het |
| Wdr25 |
T |
A |
12: 108,958,725 (GRCm39) |
|
probably null |
Het |
| Wrap53 |
A |
G |
11: 69,453,226 (GRCm39) |
L405P |
probably damaging |
Het |
| Zfp629 |
C |
A |
7: 127,211,161 (GRCm39) |
W216L |
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 |
|
|
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 |
|
|
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'- GACATGAGCTGCTCCCCATATCAC -3'
(R):5'- TGGACTACATCTGGGCCATAGTTCTTC -3'
Sequencing Primer
(F):5'- CACCTTATGAAAATCTGGGAAACTG -3'
(R):5'- ggggatcaagcccagtg -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation