Incidental Mutation 'R2176:Ppp3cb'
| ID |
236901 |
| 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 |
040178-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2176 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20570720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 337
(V337E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022355]
[ENSMUST00000159027]
[ENSMUST00000161445]
[ENSMUST00000161989]
|
| AlphaFold |
P48453 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022355
AA Change: V337E
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: V337E
| 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: V337E
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: V337E
| 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: ENSMUST00000160812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161332
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161445
AA Change: V337E
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: V337E
| 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: V337E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: V337E
| 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: ENSMUST00000223854
|
| Meta Mutation Damage Score |
0.8741 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
T |
A |
5: 121,657,649 (GRCm39) |
Y548F |
probably benign |
Het |
| Armc9 |
T |
C |
1: 86,127,614 (GRCm39) |
L83P |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,344 (GRCm39) |
|
probably benign |
Het |
| Casp3 |
A |
G |
8: 47,082,791 (GRCm39) |
N3S |
probably damaging |
Het |
| Ccdc174 |
G |
A |
6: 91,865,070 (GRCm39) |
M109I |
probably benign |
Het |
| Ccr6 |
T |
A |
17: 8,475,073 (GRCm39) |
F93I |
probably damaging |
Het |
| Clvs2 |
T |
C |
10: 33,471,811 (GRCm39) |
S165G |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,320,941 (GRCm39) |
V171A |
probably benign |
Het |
| Dennd5a |
C |
A |
7: 109,504,327 (GRCm39) |
|
probably null |
Het |
| Dock2 |
T |
A |
11: 34,586,044 (GRCm39) |
Y546F |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,158,401 (GRCm39) |
|
probably null |
Het |
| Focad |
T |
A |
4: 88,197,481 (GRCm39) |
Y625N |
unknown |
Het |
| Fyb1 |
A |
G |
15: 6,609,435 (GRCm39) |
K3E |
probably damaging |
Het |
| Gm14496 |
G |
A |
2: 181,633,130 (GRCm39) |
D38N |
probably benign |
Het |
| Gm20403 |
T |
C |
12: 55,033,155 (GRCm39) |
T54A |
probably benign |
Het |
| Gm9830 |
A |
G |
9: 44,375,556 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd1 |
A |
T |
12: 51,792,277 (GRCm39) |
S2487R |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,715,233 (GRCm39) |
L175S |
probably benign |
Het |
| Inhca |
A |
G |
9: 103,136,566 (GRCm39) |
|
probably benign |
Het |
| Itgav |
C |
T |
2: 83,633,599 (GRCm39) |
R983C |
probably damaging |
Het |
| Kcna10 |
T |
C |
3: 107,102,032 (GRCm39) |
V221A |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 64,907,120 (GRCm39) |
V35I |
probably benign |
Het |
| Kif6 |
G |
A |
17: 50,062,258 (GRCm39) |
E473K |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,426,042 (GRCm39) |
T452A |
probably benign |
Het |
| Mllt1 |
A |
G |
17: 57,204,398 (GRCm39) |
S382P |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,757,398 (GRCm39) |
W1083R |
probably damaging |
Het |
| Nell2 |
T |
C |
15: 95,333,038 (GRCm39) |
I174V |
probably damaging |
Het |
| Noct |
G |
A |
3: 51,157,117 (GRCm39) |
|
probably null |
Het |
| Nvl |
A |
T |
1: 180,962,639 (GRCm39) |
|
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,250,595 (GRCm39) |
S574G |
probably benign |
Het |
| Or10a3m |
G |
A |
7: 108,313,339 (GRCm39) |
V248I |
probably damaging |
Het |
| Or11h4 |
T |
C |
14: 50,973,681 (GRCm39) |
M313V |
probably benign |
Het |
| Or4a75 |
A |
T |
2: 89,447,924 (GRCm39) |
M204K |
possibly damaging |
Het |
| Pip5k1a |
A |
T |
3: 94,972,807 (GRCm39) |
S415T |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,623,741 (GRCm39) |
P785S |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,339,733 (GRCm39) |
Y1048C |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,114,368 (GRCm39) |
|
probably benign |
Het |
| Prl7a2 |
T |
G |
13: 27,843,089 (GRCm39) |
Y238S |
probably benign |
Het |
| Psg28 |
T |
A |
7: 18,161,804 (GRCm39) |
D233V |
probably damaging |
Het |
| Rad50 |
A |
G |
11: 53,589,036 (GRCm39) |
C221R |
probably benign |
Het |
| Rgl3 |
A |
G |
9: 21,887,254 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,701,014 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
C |
A |
4: 100,299,071 (GRCm39) |
R815S |
probably damaging |
Het |
| Rrp1b |
C |
A |
17: 32,275,534 (GRCm39) |
D360E |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,496,680 (GRCm39) |
Q3682R |
possibly damaging |
Het |
| Sdr42e1 |
A |
T |
8: 118,389,616 (GRCm39) |
F342I |
possibly damaging |
Het |
| Setd5 |
A |
G |
6: 113,128,114 (GRCm39) |
R1337G |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,001,140 (GRCm39) |
V36A |
probably damaging |
Het |
| Slc4a5 |
G |
A |
6: 83,239,542 (GRCm39) |
G152D |
probably damaging |
Het |
| Sptbn4 |
T |
G |
7: 27,063,587 (GRCm39) |
M2280L |
probably benign |
Het |
| Syngr2 |
T |
C |
11: 117,703,406 (GRCm39) |
I74T |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,878,866 (GRCm39) |
I175M |
possibly damaging |
Het |
| Tmc3 |
A |
G |
7: 83,258,516 (GRCm39) |
E502G |
probably damaging |
Het |
| Tph1 |
T |
A |
7: 46,311,463 (GRCm39) |
D88V |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,295,691 (GRCm39) |
K979E |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,691,934 (GRCm39) |
T799A |
probably benign |
Het |
| Utf1 |
A |
G |
7: 139,523,920 (GRCm39) |
E45G |
possibly damaging |
Het |
| Vmn1r208 |
A |
T |
13: 22,956,772 (GRCm39) |
C242S |
probably damaging |
Het |
| Wrnip1 |
T |
C |
13: 33,004,223 (GRCm39) |
I498T |
probably damaging |
Het |
| Ypel2 |
T |
A |
11: 86,862,699 (GRCm39) |
H18L |
probably benign |
Het |
| Zan |
T |
G |
5: 137,420,110 (GRCm39) |
D2849A |
unknown |
Het |
| Zfp647 |
A |
T |
15: 76,795,860 (GRCm39) |
F267I |
probably damaging |
Het |
| Zfp786 |
G |
T |
6: 47,797,905 (GRCm39) |
H344Q |
possibly damaging |
Het |
| Zswim3 |
G |
T |
2: 164,662,614 (GRCm39) |
A365S |
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,830,238 (GRCm39) |
W538R |
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 |
|
|
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 |
|
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'- TGGAACCAGGCTTTAATTTCCTC -3'
(R):5'- AATTGCTCATGGCCCTTCTG -3'
Sequencing Primer
(F):5'- ACCAGGCTTTAATTTCCTCTAGCAAG -3'
(R):5'- TTACTCTCAGCATGCAGGAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation