Incidental Mutation 'R5303:Ppp5c'
| ID |
404348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp5c
|
| Ensembl Gene |
ENSMUSG00000003099 |
| Gene Name |
protein phosphatase 5, catalytic subunit |
| Synonyms |
PP5, ANP receptor |
| MMRRC Submission |
042886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5303 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16738575-16761812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 16739209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 472
(Q472K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003183]
|
| AlphaFold |
Q60676 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003183
AA Change: Q472K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003183
Gene: ENSMUSG00000003099
AA Change: Q472K
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
28 |
61 |
1.92e-6 |
SMART |
|
TPR
|
62 |
95 |
8.29e0 |
SMART |
|
TPR
|
96 |
129 |
4.28e-4 |
SMART |
|
PP2Ac
|
204 |
480 |
2.8e-164 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138353
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142597
AA Change: Q448K
|
| SMART Domains |
Protein: ENSMUSP00000122783
Gene: ENSMUSG00000003099
AA Change: Q448K
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
27 |
60 |
1.92e-6 |
SMART |
|
TPR
|
61 |
94 |
8.29e0 |
SMART |
|
TPR
|
95 |
128 |
4.28e-4 |
SMART |
|
PP2Ac
|
203 |
457 |
1.83e-145 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156366
|
| Meta Mutation Damage Score |
0.0591 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit a decrease in cell cycle check-point arrest following treatment with ionizing radition. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
| 4921504E06Rik |
A |
G |
2: 19,521,110 (GRCm39) |
Y256H |
possibly damaging |
Het |
| Abcc12 |
C |
A |
8: 87,236,415 (GRCm39) |
R1133L |
probably benign |
Het |
| Acss3 |
T |
A |
10: 106,920,712 (GRCm39) |
T133S |
possibly damaging |
Het |
| Adra1d |
G |
A |
2: 131,388,169 (GRCm39) |
P462L |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 126,739,453 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
G |
A |
15: 96,290,349 (GRCm39) |
R1748Q |
probably damaging |
Het |
| B3glct |
C |
T |
5: 149,677,488 (GRCm39) |
|
probably benign |
Het |
| C3ar1 |
A |
T |
6: 122,826,794 (GRCm39) |
S474R |
probably damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,905,427 (GRCm39) |
F189L |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,744,707 (GRCm39) |
I344V |
probably benign |
Het |
| Chrna1 |
T |
C |
2: 73,396,618 (GRCm39) |
M426V |
probably benign |
Het |
| Cinp |
G |
A |
12: 110,843,295 (GRCm39) |
T139M |
probably damaging |
Het |
| Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
| Disp2 |
T |
C |
2: 118,641,329 (GRCm39) |
|
probably benign |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,537 (GRCm39) |
R173H |
probably damaging |
Het |
| Eapp |
G |
A |
12: 54,739,703 (GRCm39) |
P38L |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,853,873 (GRCm39) |
S480P |
probably benign |
Het |
| Epb41l3 |
G |
C |
17: 69,564,444 (GRCm39) |
E390Q |
probably damaging |
Het |
| Fermt1 |
T |
C |
2: 132,753,259 (GRCm39) |
|
probably null |
Het |
| Foxf2 |
T |
A |
13: 31,810,463 (GRCm39) |
F134Y |
possibly damaging |
Het |
| Foxp2 |
T |
A |
6: 15,324,636 (GRCm39) |
C95S |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gria1 |
A |
G |
11: 57,133,851 (GRCm39) |
T577A |
probably benign |
Het |
| Hal |
A |
G |
10: 93,352,227 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
C |
A |
15: 97,695,899 (GRCm39) |
E670D |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,115,558 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,335,663 (GRCm39) |
Y2258H |
probably benign |
Het |
| Mical3 |
G |
T |
6: 120,936,941 (GRCm39) |
T1195K |
probably benign |
Het |
| Myh1 |
T |
C |
11: 67,092,843 (GRCm39) |
S46P |
probably benign |
Het |
| Mylk3 |
T |
A |
8: 86,077,105 (GRCm39) |
I444F |
probably damaging |
Het |
| Nlrc3 |
A |
T |
16: 3,781,478 (GRCm39) |
C644S |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,368,631 (GRCm39) |
V553M |
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,884 (GRCm39) |
I213T |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,345 (GRCm39) |
I242F |
possibly damaging |
Het |
| Or51a43 |
T |
C |
7: 103,718,239 (GRCm39) |
|
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,139 (GRCm39) |
Y121* |
probably null |
Het |
| Postn |
A |
G |
3: 54,285,018 (GRCm39) |
T669A |
probably damaging |
Het |
| Qsox1 |
T |
C |
1: 155,655,039 (GRCm39) |
H708R |
probably benign |
Het |
| Rhbdl2 |
A |
G |
4: 123,704,014 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,767,907 (GRCm39) |
E2884K |
probably damaging |
Het |
| Saysd1 |
T |
C |
14: 20,133,026 (GRCm39) |
T44A |
probably benign |
Het |
| Septin14 |
T |
A |
5: 129,766,712 (GRCm39) |
M290L |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc38a8 |
C |
A |
8: 120,212,780 (GRCm39) |
V294L |
possibly damaging |
Het |
| Spdye4b |
C |
T |
5: 143,188,158 (GRCm39) |
T217I |
probably benign |
Het |
| Sugp2 |
T |
A |
8: 70,694,827 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,370,464 (GRCm39) |
T232A |
probably benign |
Het |
| Tbc1d5 |
A |
T |
17: 51,043,228 (GRCm39) |
D753E |
probably benign |
Het |
| Tmed1 |
G |
T |
9: 21,421,343 (GRCm39) |
Q44K |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,622,606 (GRCm39) |
S2T |
possibly damaging |
Het |
| Ube4b |
T |
C |
4: 149,468,260 (GRCm39) |
D172G |
probably damaging |
Het |
| Vmn1r235 |
C |
A |
17: 21,482,268 (GRCm39) |
Q198K |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,100,849 (GRCm39) |
H256R |
probably damaging |
Het |
| Zfat |
A |
T |
15: 67,982,335 (GRCm39) |
H1059Q |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,593,842 (GRCm39) |
I77M |
probably benign |
Het |
| Zfp850 |
C |
T |
7: 27,707,838 (GRCm39) |
A2T |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,830 (GRCm39) |
N188K |
probably damaging |
Het |
| Zyg11a |
C |
T |
4: 108,041,629 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ppp5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02302:Ppp5c
|
APN |
7 |
16,742,555 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02794:Ppp5c
|
APN |
7 |
16,740,885 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02831:Ppp5c
|
APN |
7 |
16,742,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02950:Ppp5c
|
APN |
7 |
16,740,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
Persephone
|
UTSW |
7 |
16,756,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
pontius
|
UTSW |
7 |
16,741,137 (GRCm39) |
nonsense |
probably null |
|
|
Pylon
|
UTSW |
7 |
16,740,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0078:Ppp5c
|
UTSW |
7 |
16,761,650 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0366:Ppp5c
|
UTSW |
7 |
16,756,508 (GRCm39) |
nonsense |
probably null |
|
|
R1102:Ppp5c
|
UTSW |
7 |
16,756,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1511:Ppp5c
|
UTSW |
7 |
16,743,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Ppp5c
|
UTSW |
7 |
16,743,861 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1714:Ppp5c
|
UTSW |
7 |
16,742,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1754:Ppp5c
|
UTSW |
7 |
16,739,235 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2380:Ppp5c
|
UTSW |
7 |
16,740,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2431:Ppp5c
|
UTSW |
7 |
16,749,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4854:Ppp5c
|
UTSW |
7 |
16,742,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4974:Ppp5c
|
UTSW |
7 |
16,743,861 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5626:Ppp5c
|
UTSW |
7 |
16,761,629 (GRCm39) |
missense |
probably benign |
|
|
R5785:Ppp5c
|
UTSW |
7 |
16,761,616 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6059:Ppp5c
|
UTSW |
7 |
16,761,832 (GRCm39) |
unclassified |
probably benign |
|
|
R6855:Ppp5c
|
UTSW |
7 |
16,740,891 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7760:Ppp5c
|
UTSW |
7 |
16,740,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7885:Ppp5c
|
UTSW |
7 |
16,740,111 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7922:Ppp5c
|
UTSW |
7 |
16,761,725 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8113:Ppp5c
|
UTSW |
7 |
16,742,932 (GRCm39) |
missense |
probably benign |
|
|
R8170:Ppp5c
|
UTSW |
7 |
16,741,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9260:Ppp5c
|
UTSW |
7 |
16,740,886 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9376:Ppp5c
|
UTSW |
7 |
16,743,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9460:Ppp5c
|
UTSW |
7 |
16,741,137 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Ppp5c
|
UTSW |
7 |
16,741,035 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACATCATTCCTAGCTGCAG -3'
(R):5'- GTGGTTTCTTTGGCACCACC -3'
Sequencing Primer
(F):5'- CTGCAGAAGCGTGTTGGC -3'
(R):5'- ATCTCTCCATGGCAAGTGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation