Incidental Mutation 'R8438:Ppp3cb'
| ID |
654120 |
| 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 |
067778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8438 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20549432-20596641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 20565658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 373
(M373I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022355]
[ENSMUST00000159027]
[ENSMUST00000161445]
[ENSMUST00000161989]
|
| AlphaFold |
P48453 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022355
AA Change: M373I
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: M373I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
PP2Ac
|
65 |
356 |
5.03e-166 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159027
AA Change: M373I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: M373I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
PP2Ac
|
65 |
356 |
5.03e-166 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161445
AA Change: M373I
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: M373I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
PP2Ac
|
65 |
356 |
5.03e-166 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161989
AA Change: M373I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: M373I
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
C |
T |
9: 15,201,962 (GRCm39) |
|
probably null |
Het |
| 5730480H06Rik |
A |
T |
5: 48,534,425 (GRCm39) |
H95L |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,966,404 (GRCm39) |
Y410H |
probably damaging |
Het |
| Abcb4 |
G |
A |
5: 8,996,120 (GRCm39) |
|
probably null |
Het |
| Adam8 |
C |
T |
7: 139,565,249 (GRCm39) |
|
probably null |
Het |
| Aldh1l1 |
C |
T |
6: 90,536,428 (GRCm39) |
P111L |
probably damaging |
Het |
| Baz2b |
G |
T |
2: 59,747,828 (GRCm39) |
Y1278* |
probably null |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Casp9 |
C |
A |
4: 141,540,934 (GRCm39) |
T434N |
probably benign |
Het |
| Cd19 |
C |
A |
7: 126,013,515 (GRCm39) |
M91I |
possibly damaging |
Het |
| Celsr2 |
G |
A |
3: 108,301,139 (GRCm39) |
T2718M |
probably damaging |
Het |
| Clptm1 |
G |
T |
7: 19,379,776 (GRCm39) |
D153E |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,515,517 (GRCm39) |
G127S |
unknown |
Het |
| Col1a2 |
G |
T |
6: 4,515,518 (GRCm39) |
G127V |
unknown |
Het |
| Crybg3 |
A |
G |
16: 59,385,655 (GRCm39) |
S190P |
probably benign |
Het |
| Ddrgk1 |
G |
A |
2: 130,505,302 (GRCm39) |
|
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,746,150 (GRCm39) |
H402R |
probably benign |
Het |
| Dgat2 |
T |
C |
7: 98,806,207 (GRCm39) |
Y330C |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,227,839 (GRCm39) |
C1354Y |
probably damaging |
Het |
| Ecd |
T |
A |
14: 20,388,533 (GRCm39) |
I119L |
possibly damaging |
Het |
| Entpd1 |
A |
G |
19: 40,725,224 (GRCm39) |
K437E |
possibly damaging |
Het |
| Fcgbp |
C |
T |
7: 27,789,231 (GRCm39) |
A599V |
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,241,701 (GRCm39) |
S1999* |
probably null |
Het |
| Hesx1 |
C |
T |
14: 26,723,460 (GRCm39) |
R97C |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hoxb3 |
A |
G |
11: 96,236,609 (GRCm39) |
N229S |
probably benign |
Het |
| Itpk1 |
G |
A |
12: 102,572,418 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
C |
T |
6: 55,874,878 (GRCm39) |
S276L |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,289,153 (GRCm39) |
D549G |
probably benign |
Het |
| Mef2c |
A |
G |
13: 83,804,336 (GRCm39) |
E312G |
probably damaging |
Het |
| Morn5 |
A |
G |
2: 35,945,076 (GRCm39) |
K100R |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,430,455 (GRCm39) |
D610E |
probably benign |
Het |
| Obox6 |
G |
C |
7: 15,567,853 (GRCm39) |
A198G |
probably damaging |
Het |
| Or2t43 |
A |
T |
11: 58,457,665 (GRCm39) |
S169T |
possibly damaging |
Het |
| Or4a75 |
C |
T |
2: 89,448,054 (GRCm39) |
V161M |
possibly damaging |
Het |
| Or4a80 |
A |
T |
2: 89,583,061 (GRCm39) |
M37K |
probably damaging |
Het |
| Or6b13 |
C |
A |
7: 139,782,170 (GRCm39) |
C171F |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,825,232 (GRCm39) |
N741S |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,877,379 (GRCm39) |
N575D |
probably benign |
Het |
| Plxna4 |
C |
A |
6: 32,179,115 (GRCm39) |
G967W |
probably damaging |
Het |
| Sec14l2 |
C |
A |
11: 4,059,202 (GRCm39) |
E156* |
probably null |
Het |
| Srrt |
A |
T |
5: 137,301,262 (GRCm39) |
Y55N |
unknown |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Thada |
G |
A |
17: 84,743,057 (GRCm39) |
T789I |
probably damaging |
Het |
| Top3b |
G |
T |
16: 16,709,364 (GRCm39) |
S684I |
probably benign |
Het |
| Trpc4 |
A |
G |
3: 54,129,674 (GRCm39) |
I147V |
possibly damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,454,363 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
T |
A |
6: 58,449,646 (GRCm39) |
D73V |
|
Het |
| Wasf3 |
A |
T |
5: 146,390,237 (GRCm39) |
Q127L |
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,760,054 (GRCm39) |
T182A |
possibly damaging |
Het |
| Xpo7 |
C |
A |
14: 70,940,672 (GRCm39) |
R139S |
probably benign |
Het |
| Zfp687 |
A |
T |
3: 94,915,433 (GRCm39) |
S1058T |
probably benign |
Het |
| Zfp786 |
T |
C |
6: 47,796,934 (GRCm39) |
E668G |
probably damaging |
Het |
| Zfp831 |
A |
T |
2: 174,486,796 (GRCm39) |
R490S |
possibly 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 |
|
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 |
|
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'- TAGCCATGGGAAAGCAATGC -3'
(R):5'- TCTGGTTTATAGTTCCTCTCAGATG -3'
Sequencing Primer
(F):5'- GAGTGTACTGAGACTCAGT -3'
(R):5'- GTGTGTTTTAATGTTTCTCAGAGTTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation