Incidental Mutation 'R4694:Ppp3cb'
| ID |
355578 |
| 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 |
041945-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4694 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20551583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 516
(N516S)
|
| 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: N506S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: N506S
| 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: N516S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: N516S
| 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: N515S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: N515S
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,979,586 (GRCm39) |
F258Y |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,587,055 (GRCm39) |
R765H |
probably damaging |
Het |
| Bicd1 |
T |
A |
6: 149,311,051 (GRCm39) |
L42Q |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,313,012 (GRCm39) |
|
probably null |
Het |
| Capn1 |
T |
A |
19: 6,044,761 (GRCm39) |
K504* |
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,804,332 (GRCm39) |
K917R |
probably damaging |
Het |
| Cp |
A |
T |
3: 20,029,049 (GRCm39) |
T509S |
probably benign |
Het |
| Cyp2d10 |
T |
C |
15: 82,288,684 (GRCm39) |
D266G |
probably damaging |
Het |
| Dhodh |
C |
G |
8: 110,333,048 (GRCm39) |
R7P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,354,189 (GRCm39) |
L419P |
probably benign |
Het |
| Epb41l4b |
A |
T |
4: 57,019,875 (GRCm39) |
M84K |
probably benign |
Het |
| Fbln7 |
A |
G |
2: 128,722,345 (GRCm39) |
|
probably null |
Het |
| Fbxw11 |
C |
T |
11: 32,592,820 (GRCm39) |
|
probably benign |
Het |
| Flnc |
C |
A |
6: 29,443,447 (GRCm39) |
P543T |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 34,748,737 (GRCm39) |
S186P |
probably damaging |
Het |
| Hcfc2 |
C |
T |
10: 82,559,534 (GRCm39) |
T382M |
probably damaging |
Het |
| Hdac9 |
G |
T |
12: 34,487,246 (GRCm39) |
L73I |
probably damaging |
Het |
| Hnrnpa2b1 |
A |
T |
6: 51,441,163 (GRCm39) |
D302E |
probably damaging |
Het |
| Ifi204 |
C |
T |
1: 173,576,825 (GRCm39) |
C592Y |
probably damaging |
Het |
| Jph1 |
T |
A |
1: 17,067,729 (GRCm39) |
I653F |
probably damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,484,918 (GRCm39) |
K339E |
probably benign |
Het |
| Kcp |
G |
A |
6: 29,493,196 (GRCm39) |
T838I |
probably benign |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,108 (GRCm39) |
V171E |
possibly damaging |
Het |
| Lck |
G |
T |
4: 129,442,765 (GRCm39) |
N452K |
possibly damaging |
Het |
| Madd |
A |
G |
2: 90,990,673 (GRCm39) |
L1134S |
probably damaging |
Het |
| Mafk |
T |
C |
5: 139,786,248 (GRCm39) |
S149P |
probably damaging |
Het |
| Man1c1 |
T |
C |
4: 134,430,500 (GRCm39) |
D94G |
probably benign |
Het |
| Me2 |
T |
A |
18: 73,934,930 (GRCm39) |
M38L |
probably benign |
Het |
| Muc2 |
A |
C |
7: 141,306,082 (GRCm39) |
D257A |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,018,566 (GRCm39) |
K1927E |
probably damaging |
Het |
| Naaladl1 |
C |
T |
19: 6,158,920 (GRCm39) |
P324S |
probably damaging |
Het |
| Ndufa10 |
T |
C |
1: 92,379,824 (GRCm39) |
E303G |
probably benign |
Het |
| Nedd1 |
C |
T |
10: 92,555,444 (GRCm39) |
V14I |
probably benign |
Het |
| Nwd1 |
T |
G |
8: 73,393,958 (GRCm39) |
V407G |
probably damaging |
Het |
| Or2h15 |
A |
C |
17: 38,441,748 (GRCm39) |
C112G |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,968,593 (GRCm39) |
K297* |
probably null |
Het |
| Or4k15c |
T |
C |
14: 50,321,476 (GRCm39) |
I221V |
probably benign |
Het |
| Or5w13 |
T |
A |
2: 87,524,104 (GRCm39) |
T41S |
probably benign |
Het |
| Or7g29 |
A |
G |
9: 19,286,694 (GRCm39) |
L161P |
probably damaging |
Het |
| Pgrmc2 |
T |
C |
3: 41,024,840 (GRCm39) |
D144G |
probably damaging |
Het |
| Pramel27 |
T |
C |
4: 143,579,530 (GRCm39) |
S372P |
probably damaging |
Het |
| Prelp |
A |
G |
1: 133,842,485 (GRCm39) |
M220T |
probably damaging |
Het |
| Prss36 |
A |
G |
7: 127,534,787 (GRCm39) |
W465R |
probably damaging |
Het |
| Pth2r |
C |
A |
1: 65,375,920 (GRCm39) |
F59L |
probably benign |
Het |
| Rab20 |
C |
T |
8: 11,504,485 (GRCm39) |
G72R |
probably damaging |
Het |
| Rab4a |
G |
T |
8: 124,555,769 (GRCm39) |
G49W |
probably damaging |
Het |
| Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
| Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
| Rock1 |
A |
T |
18: 10,136,152 (GRCm39) |
Y178* |
probably null |
Het |
| Scaf8 |
C |
A |
17: 3,247,679 (GRCm39) |
L1001I |
probably damaging |
Het |
| Sema3b |
G |
A |
9: 107,482,201 (GRCm39) |
P26S |
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,752,633 (GRCm39) |
L548P |
probably damaging |
Het |
| Sncaip |
A |
C |
18: 53,039,629 (GRCm39) |
T548P |
probably benign |
Het |
| Stpg2 |
C |
T |
3: 139,023,177 (GRCm39) |
P398S |
possibly damaging |
Het |
| Stpg3 |
A |
C |
2: 25,103,309 (GRCm39) |
V260G |
probably damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,960,875 (GRCm39) |
F242I |
probably damaging |
Het |
| Tnks1bp1 |
G |
A |
2: 84,902,066 (GRCm39) |
R992Q |
probably damaging |
Het |
| Tom1l1 |
T |
G |
11: 90,537,675 (GRCm39) |
H394P |
possibly damaging |
Het |
| Topors |
T |
G |
4: 40,261,442 (GRCm39) |
N614T |
possibly damaging |
Het |
| Trank1 |
A |
T |
9: 111,221,129 (GRCm39) |
Q2622L |
probably benign |
Het |
| Trub2 |
A |
G |
2: 29,668,858 (GRCm39) |
S186P |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,479,636 (GRCm39) |
H1756L |
probably benign |
Het |
| Vmn1r9 |
A |
T |
6: 57,048,314 (GRCm39) |
I130F |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,086,837 (GRCm39) |
I602F |
probably damaging |
Het |
| Zfand3 |
T |
A |
17: 30,354,362 (GRCm39) |
F60I |
possibly damaging |
Het |
| Zfp946 |
G |
A |
17: 22,674,692 (GRCm39) |
G482E |
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 |
|
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'- ATAGACGGCACAAGTCCCAG -3'
(R):5'- GACTCAAATGGGGATAATTCAACC -3'
Sequencing Primer
(F):5'- AAGTCCCAGGGCCCTCAAG -3'
(R):5'- ACAATTACTGACTTTTCAAATTTGCG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation