Incidental Mutation 'IGL02490:Ppp3cb'
ID |
295618 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp3cb
|
Ensembl Gene |
ENSMUSG00000021816 |
Gene Name |
protein phosphatase 3, catalytic subunit, beta isoform |
Synonyms |
Cnab, CnAbeta, 1110063J16Rik, Calnb, PP2BA beta |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02490
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 20581726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
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 null
Transcript: ENSMUST00000161989
|
SMART Domains |
Protein: ENSMUSP00000125582 Gene: ENSMUSG00000021816
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 |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D06Rik |
A |
G |
6: 89,078,559 (GRCm39) |
|
noncoding transcript |
Het |
Adam5 |
A |
T |
8: 25,271,720 (GRCm39) |
Y562* |
probably null |
Het |
Akr1d1 |
T |
C |
6: 37,535,423 (GRCm39) |
V269A |
probably damaging |
Het |
Anks4b |
A |
G |
7: 119,773,241 (GRCm39) |
T34A |
probably damaging |
Het |
Arhgef40 |
A |
G |
14: 52,226,652 (GRCm39) |
N232S |
probably damaging |
Het |
Cdc40 |
C |
T |
10: 40,717,767 (GRCm39) |
V379I |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdh13 |
A |
G |
8: 119,822,062 (GRCm39) |
D307G |
probably damaging |
Het |
Ces1h |
A |
G |
8: 94,083,627 (GRCm39) |
|
probably null |
Het |
Chchd6 |
T |
A |
6: 89,361,656 (GRCm39) |
H249L |
possibly damaging |
Het |
Clxn |
T |
A |
16: 14,734,810 (GRCm39) |
V60E |
probably benign |
Het |
Cul1 |
T |
C |
6: 47,491,820 (GRCm39) |
V392A |
probably damaging |
Het |
Cwc15 |
A |
T |
9: 14,413,320 (GRCm39) |
D34V |
probably damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,527,446 (GRCm39) |
I264T |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,897,148 (GRCm39) |
D789G |
probably damaging |
Het |
Dcdc2a |
T |
A |
13: 25,291,635 (GRCm39) |
Y207N |
probably damaging |
Het |
Flt3 |
T |
A |
5: 147,268,106 (GRCm39) |
N960Y |
probably damaging |
Het |
Fmn1 |
C |
T |
2: 113,359,817 (GRCm39) |
|
probably benign |
Het |
Foxm1 |
T |
A |
6: 128,350,314 (GRCm39) |
C400* |
probably null |
Het |
Ftmt |
A |
C |
18: 52,464,760 (GRCm39) |
R25S |
probably benign |
Het |
Guca1b |
T |
C |
17: 47,700,190 (GRCm39) |
|
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,456,676 (GRCm39) |
K680N |
possibly damaging |
Het |
Hephl1 |
C |
A |
9: 14,964,981 (GRCm39) |
R1138L |
probably benign |
Het |
Il1rl2 |
T |
A |
1: 40,395,972 (GRCm39) |
|
probably benign |
Het |
Ints2 |
A |
T |
11: 86,124,009 (GRCm39) |
I593K |
possibly damaging |
Het |
Iqcg |
T |
A |
16: 32,855,937 (GRCm39) |
K213* |
probably null |
Het |
Kif1b |
T |
A |
4: 149,288,665 (GRCm39) |
S1259C |
probably benign |
Het |
Klc1 |
C |
T |
12: 111,748,210 (GRCm39) |
T371M |
possibly damaging |
Het |
Loxl4 |
T |
C |
19: 42,593,269 (GRCm39) |
T301A |
probably benign |
Het |
Lrrc40 |
T |
C |
3: 157,768,336 (GRCm39) |
L497P |
probably damaging |
Het |
Masp2 |
C |
T |
4: 148,692,400 (GRCm39) |
R298W |
possibly damaging |
Het |
Myo5a |
A |
T |
9: 75,043,737 (GRCm39) |
Y242F |
probably damaging |
Het |
Nup98 |
A |
G |
7: 101,801,573 (GRCm39) |
V784A |
probably damaging |
Het |
Or5w15 |
T |
C |
2: 87,568,299 (GRCm39) |
Y123C |
probably damaging |
Het |
Osbpl1a |
G |
T |
18: 13,015,341 (GRCm39) |
|
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,334,922 (GRCm39) |
Y412C |
probably damaging |
Het |
Pfkfb2 |
T |
A |
1: 130,628,589 (GRCm39) |
Y339F |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,550,241 (GRCm39) |
N172D |
probably damaging |
Het |
Plec |
T |
C |
15: 76,073,463 (GRCm39) |
Y517C |
probably damaging |
Het |
Plod2 |
G |
T |
9: 92,468,895 (GRCm39) |
A207S |
probably benign |
Het |
Plxdc1 |
A |
T |
11: 97,845,604 (GRCm39) |
D229E |
probably benign |
Het |
Procr |
T |
C |
2: 155,595,352 (GRCm39) |
L52P |
probably damaging |
Het |
Psme2b |
G |
T |
11: 48,836,946 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
G |
A |
15: 36,054,993 (GRCm39) |
A727V |
probably damaging |
Het |
Rock2 |
T |
A |
12: 16,998,564 (GRCm39) |
W277R |
probably damaging |
Het |
Rpl26 |
A |
G |
11: 68,795,216 (GRCm39) |
D112G |
probably damaging |
Het |
Rxfp1 |
C |
A |
3: 79,559,474 (GRCm39) |
|
probably null |
Het |
Sdr39u1 |
G |
A |
14: 56,135,798 (GRCm39) |
P98L |
probably damaging |
Het |
Sgms1 |
T |
C |
19: 32,137,543 (GRCm39) |
K8E |
probably damaging |
Het |
Stk31 |
T |
C |
6: 49,394,469 (GRCm39) |
V277A |
probably benign |
Het |
Trav15-1-dv6-1 |
A |
C |
14: 53,797,588 (GRCm39) |
E79A |
probably benign |
Het |
Ttll6 |
A |
T |
11: 96,047,546 (GRCm39) |
D715V |
possibly damaging |
Het |
Ush2a |
T |
C |
1: 188,542,561 (GRCm39) |
S3376P |
probably damaging |
Het |
Vmn2r109 |
T |
A |
17: 20,761,246 (GRCm39) |
T704S |
possibly damaging |
Het |
Zfp27 |
T |
A |
7: 29,594,360 (GRCm39) |
H535L |
possibly damaging |
Het |
Zfp609 |
A |
T |
9: 65,611,250 (GRCm39) |
V571D |
possibly damaging |
Het |
Zfp874a |
A |
T |
13: 67,590,819 (GRCm39) |
Y288* |
probably null |
Het |
Zfp993 |
T |
C |
4: 146,742,074 (GRCm39) |
S133P |
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 |
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 |
|
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 |
|
|
Posted On |
2015-04-16 |