Incidental Mutation 'R7362:Ppp3cb'
ID |
571438 |
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 |
045375-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7362 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20573719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 304
(Q304L)
|
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: Q304L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000022355 Gene: ENSMUSG00000021816 AA Change: Q304L
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: Q304L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125722 Gene: ENSMUSG00000021816 AA Change: Q304L
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: Q304L
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000125630 Gene: ENSMUSG00000021816 AA Change: Q304L
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: Q304L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000125582 Gene: ENSMUSG00000021816 AA Change: Q304L
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: 99.7%
- 20x: 99.1%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
C |
T |
8: 13,295,534 (GRCm39) |
R193K |
probably damaging |
Het |
Aoc1 |
G |
T |
6: 48,882,345 (GRCm39) |
V74L |
probably benign |
Het |
Bfsp1 |
G |
C |
2: 143,668,795 (GRCm39) |
P601A |
probably benign |
Het |
Bicd1 |
A |
C |
6: 149,385,591 (GRCm39) |
K108T |
probably benign |
Het |
Btbd18 |
C |
T |
2: 84,491,887 (GRCm39) |
Q23* |
probably null |
Het |
Ccser1 |
A |
G |
6: 61,787,864 (GRCm39) |
I227M |
unknown |
Het |
Cd151 |
G |
A |
7: 141,049,502 (GRCm39) |
V70I |
probably benign |
Het |
Cdh10 |
A |
G |
15: 18,899,780 (GRCm39) |
T36A |
probably benign |
Het |
Crb2 |
A |
G |
2: 37,680,211 (GRCm39) |
T380A |
probably benign |
Het |
Csmd3 |
A |
C |
15: 47,619,388 (GRCm39) |
S1829A |
possibly damaging |
Het |
Dgat2 |
A |
T |
7: 98,803,843 (GRCm39) |
H359Q |
probably damaging |
Het |
Dhdds |
T |
C |
4: 133,698,441 (GRCm39) |
T298A |
probably benign |
Het |
Egfem1 |
A |
G |
3: 29,206,069 (GRCm39) |
Q102R |
probably benign |
Het |
Eps15 |
T |
A |
4: 109,223,439 (GRCm39) |
|
probably null |
Het |
Ern1 |
T |
A |
11: 106,327,949 (GRCm39) |
D61V |
probably damaging |
Het |
Fcamr |
G |
A |
1: 130,741,760 (GRCm39) |
R511Q |
possibly damaging |
Het |
Grhpr |
T |
C |
4: 44,987,255 (GRCm39) |
V213A |
probably benign |
Het |
Gsx2 |
A |
G |
5: 75,236,765 (GRCm39) |
D115G |
possibly damaging |
Het |
Hoxd3 |
A |
G |
2: 74,574,563 (GRCm39) |
I70V |
possibly damaging |
Het |
Inpp5a |
A |
G |
7: 139,158,296 (GRCm39) |
I408V |
probably benign |
Het |
Kansl3 |
A |
T |
1: 36,383,208 (GRCm39) |
D759E |
possibly damaging |
Het |
Lrrc37a |
T |
G |
11: 103,348,335 (GRCm39) |
T2787P |
unknown |
Het |
Mier3 |
G |
A |
13: 111,841,783 (GRCm39) |
G115S |
possibly damaging |
Het |
Mkln1 |
T |
C |
6: 31,445,103 (GRCm39) |
I333T |
probably benign |
Het |
Myt1 |
T |
A |
2: 181,439,033 (GRCm39) |
V227D |
probably benign |
Het |
Or1a1 |
T |
C |
11: 74,086,412 (GRCm39) |
F28L |
probably benign |
Het |
Or52s1 |
T |
A |
7: 102,861,861 (GRCm39) |
Y265N |
probably damaging |
Het |
Or7e171-ps1 |
C |
T |
9: 19,853,527 (GRCm39) |
D70N |
probably damaging |
Het |
Pcf11 |
A |
G |
7: 92,302,453 (GRCm39) |
L1219P |
possibly damaging |
Het |
Pde6g |
T |
C |
11: 120,338,950 (GRCm39) |
E80G |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Prr19 |
T |
C |
7: 25,003,343 (GRCm39) |
L319P |
probably damaging |
Het |
Prss23 |
C |
T |
7: 89,158,972 (GRCm39) |
A366T |
probably damaging |
Het |
Rock2 |
T |
C |
12: 17,008,422 (GRCm39) |
L560P |
probably damaging |
Het |
Simc1 |
A |
T |
13: 54,687,517 (GRCm39) |
R95S |
probably damaging |
Het |
Slc10a6 |
A |
T |
5: 103,776,992 (GRCm39) |
V36E |
probably damaging |
Het |
Slco1c1 |
A |
T |
6: 141,515,189 (GRCm39) |
T695S |
probably benign |
Het |
Spata31h1 |
T |
A |
10: 82,128,831 (GRCm39) |
Q1393L |
possibly damaging |
Het |
Ssh2 |
T |
C |
11: 77,340,476 (GRCm39) |
F543L |
probably benign |
Het |
Tecpr2 |
T |
A |
12: 110,907,910 (GRCm39) |
V999D |
possibly damaging |
Het |
Tnfsf10 |
A |
T |
3: 27,389,497 (GRCm39) |
Y186F |
probably damaging |
Het |
Tnk2 |
A |
T |
16: 32,494,338 (GRCm39) |
|
probably null |
Het |
Tram1 |
T |
C |
1: 13,659,832 (GRCm39) |
M39V |
probably benign |
Het |
Uck2 |
C |
T |
1: 167,065,211 (GRCm39) |
V36I |
possibly damaging |
Het |
Ugcg |
T |
A |
4: 59,217,109 (GRCm39) |
M211K |
probably damaging |
Het |
Vash2 |
A |
T |
1: 190,692,496 (GRCm39) |
S226R |
probably damaging |
Het |
Vmn1r172 |
T |
A |
7: 23,359,841 (GRCm39) |
M242K |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,232,451 (GRCm39) |
M817L |
probably benign |
Het |
Vwa5b1 |
T |
C |
4: 138,321,623 (GRCm39) |
N390S |
probably damaging |
Het |
Wdr73 |
T |
A |
7: 80,550,451 (GRCm39) |
D17V |
probably damaging |
Het |
Wdr91 |
A |
T |
6: 34,866,050 (GRCm39) |
S501T |
possibly damaging |
Het |
Zfp454 |
A |
G |
11: 50,777,194 (GRCm39) |
|
probably null |
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 |
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'- GGCTGCATACAACTTGAGTG -3'
(R):5'- CCACCTGCATTTGGACCAATG -3'
Sequencing Primer
(F):5'- CCCCTCCCTTATATCTTAGGTTTTTG -3'
(R):5'- CCTGCATTTGGACCAATGTGTGAC -3'
|
Posted On |
2019-09-13 |