Incidental Mutation 'R9254:Ppp3cb'
| ID |
701753 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9254 (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 C
at 20581874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 47
(D47G)
|
| 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: D47G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: D47G
| 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: D47G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: D47G
| 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: D47G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: D47G
| 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: D47G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: D47G
| 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: 99.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
G |
6: 86,914,049 (GRCm39) |
I173V |
possibly damaging |
Het |
| Abca14 |
G |
T |
7: 119,807,202 (GRCm39) |
E83* |
probably null |
Het |
| Abcc5 |
T |
C |
16: 20,152,437 (GRCm39) |
T1370A |
probably damaging |
Het |
| Abtb2 |
A |
G |
2: 103,541,580 (GRCm39) |
T828A |
probably benign |
Het |
| Agap1 |
T |
A |
1: 89,653,741 (GRCm39) |
V370D |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,777,680 (GRCm39) |
V1621A |
probably benign |
Het |
| Atp2a2 |
T |
C |
5: 122,611,315 (GRCm39) |
I168V |
probably benign |
Het |
| Atxn2 |
G |
A |
5: 121,885,509 (GRCm39) |
V239I |
probably damaging |
Het |
| B230219D22Rik |
C |
A |
13: 55,847,283 (GRCm39) |
A132E |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,979,223 (GRCm39) |
E697G |
probably damaging |
Het |
| Ccdc162 |
T |
G |
10: 41,488,944 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,752,210 (GRCm39) |
S236G |
unknown |
Het |
| Csmd2 |
A |
G |
4: 128,091,112 (GRCm39) |
E217G |
|
Het |
| Cyp2j7 |
T |
A |
4: 96,105,740 (GRCm39) |
K257* |
probably null |
Het |
| D630003M21Rik |
C |
T |
2: 158,042,883 (GRCm39) |
A886T |
probably damaging |
Het |
| D630044L22Rik |
A |
G |
17: 26,180,856 (GRCm39) |
H102R |
possibly damaging |
Het |
| Dact3 |
G |
A |
7: 16,620,013 (GRCm39) |
V503I |
unknown |
Het |
| Dcn |
G |
T |
10: 97,343,643 (GRCm39) |
R201L |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,024,567 (GRCm39) |
V1747A |
possibly damaging |
Het |
| Dnajc14 |
T |
A |
10: 128,652,743 (GRCm39) |
|
probably null |
Het |
| Dner |
A |
G |
1: 84,673,193 (GRCm39) |
V86A |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,322,760 (GRCm39) |
|
probably null |
Het |
| Gphn |
T |
C |
12: 78,674,036 (GRCm39) |
|
probably null |
Het |
| Gpr158 |
A |
G |
2: 21,373,042 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
G |
T |
10: 119,780,961 (GRCm39) |
L203F |
probably damaging |
Het |
| Hgfac |
T |
C |
5: 35,202,133 (GRCm39) |
W345R |
probably damaging |
Het |
| Hoga1 |
T |
C |
19: 42,051,697 (GRCm39) |
L250P |
probably damaging |
Het |
| Ighv1-24 |
T |
C |
12: 114,736,663 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,469,848 (GRCm39) |
L1439P |
probably damaging |
Het |
| Kif21a |
C |
T |
15: 90,854,030 (GRCm39) |
R779Q |
probably damaging |
Het |
| Klkb1 |
T |
C |
8: 45,742,067 (GRCm39) |
T71A |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,298,685 (GRCm39) |
V137A |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,333,891 (GRCm39) |
D1450G |
probably benign |
Het |
| Lrrc8c |
T |
A |
5: 105,756,356 (GRCm39) |
Y710* |
probably null |
Het |
| Mixl1 |
A |
G |
1: 180,522,258 (GRCm39) |
S208P |
probably benign |
Het |
| Mroh1 |
A |
G |
15: 76,292,215 (GRCm39) |
H229R |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,557,467 (GRCm39) |
Q2942L |
unknown |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nup85 |
T |
C |
11: 115,469,424 (GRCm39) |
I322T |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,597,116 (GRCm39) |
T456A |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,265,089 (GRCm39) |
D426G |
possibly damaging |
Het |
| Or10n7-ps1 |
A |
G |
9: 39,598,114 (GRCm39) |
L42P |
probably damaging |
Het |
| Or5w15 |
T |
A |
2: 87,568,372 (GRCm39) |
M99L |
probably benign |
Het |
| Or7e169 |
T |
A |
9: 19,757,212 (GRCm39) |
K234N |
possibly damaging |
Het |
| Or8b4 |
C |
T |
9: 37,830,447 (GRCm39) |
L165F |
probably damaging |
Het |
| Or9k2b |
A |
G |
10: 130,016,605 (GRCm39) |
M48T |
possibly damaging |
Het |
| Pcyt1a |
G |
A |
16: 32,288,894 (GRCm39) |
R245Q |
probably benign |
Het |
| Pi15 |
T |
C |
1: 17,695,180 (GRCm39) |
Y266H |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,492,474 (GRCm39) |
T1777I |
probably damaging |
Het |
| Pram1 |
T |
C |
17: 33,860,441 (GRCm39) |
V336A |
probably damaging |
Het |
| Prl |
T |
A |
13: 27,243,503 (GRCm39) |
I58N |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,348,934 (GRCm39) |
D630G |
unknown |
Het |
| Ralgapa1 |
G |
C |
12: 55,769,583 (GRCm39) |
P803A |
probably damaging |
Het |
| Rin1 |
A |
G |
19: 5,103,249 (GRCm39) |
K513E |
probably damaging |
Het |
| Rtcb |
A |
T |
10: 85,779,071 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
C |
T |
13: 11,898,002 (GRCm39) |
C131Y |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,464,928 (GRCm39) |
V3954L |
probably damaging |
Het |
| Taf4b |
C |
T |
18: 14,946,431 (GRCm39) |
T418M |
probably damaging |
Het |
| Taf6 |
A |
G |
5: 138,181,952 (GRCm39) |
I92T |
possibly damaging |
Het |
| Tfg |
A |
T |
16: 56,526,050 (GRCm39) |
D64E |
probably damaging |
Het |
| Tkfc |
T |
A |
19: 10,574,712 (GRCm39) |
E176V |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmem200a |
A |
T |
10: 25,869,654 (GRCm39) |
L205Q |
probably damaging |
Het |
| Trav13n-3 |
T |
G |
14: 53,574,853 (GRCm39) |
L32V |
probably damaging |
Het |
| Tsen2 |
T |
A |
6: 115,553,864 (GRCm39) |
M414K |
probably damaging |
Het |
| Tut7 |
T |
C |
13: 59,936,288 (GRCm39) |
Y1271C |
possibly damaging |
Het |
| Txlna |
A |
T |
4: 129,530,900 (GRCm39) |
Y196N |
probably damaging |
Het |
| Usp44 |
T |
A |
10: 93,688,635 (GRCm39) |
I562K |
possibly damaging |
Het |
| Vmn1r24 |
T |
A |
6: 57,932,736 (GRCm39) |
I261F |
probably benign |
Het |
| Vmn2r106 |
T |
C |
17: 20,496,066 (GRCm39) |
T553A |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,596,650 (GRCm39) |
V135A |
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 |
|
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 |
|
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'- GGTAAACAGCTTTCTCTCCAATCAAC -3'
(R):5'- GGCATGGGTCTCAAAATTACATAC -3'
Sequencing Primer
(F):5'- AGCTTTCTCTCCAATCAACTAAATAC -3'
(R):5'- TGGGTCTCAAAATTACATACAAAGAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation