Incidental Mutation 'R5785:Ppp5c'
| ID |
447958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp5c
|
| Ensembl Gene |
ENSMUSG00000003099 |
| Gene Name |
protein phosphatase 5, catalytic subunit |
| Synonyms |
PP5, ANP receptor |
| MMRRC Submission |
043206-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5785 (G1)
|
| Quality Score |
104 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16738575-16761812 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 16761616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003183]
[ENSMUST00000108492]
|
| AlphaFold |
Q60676 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003183
|
| SMART Domains |
Protein: ENSMUSP00000003183
Gene: ENSMUSG00000003099
| 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 |
probably benign
Transcript: ENSMUST00000108492
|
| SMART Domains |
Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
20 |
75 |
1.57e-7 |
SMART |
|
PAS
|
84 |
150 |
9.83e-10 |
SMART |
|
PAS
|
227 |
295 |
2.72e-3 |
SMART |
|
PAC
|
301 |
344 |
2.18e-2 |
SMART |
|
low complexity region
|
423 |
439 |
N/A |
INTRINSIC |
|
Pfam:HIF-1
|
475 |
506 |
5.7e-18 |
PFAM |
|
low complexity region
|
510 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
609 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138353
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142597
|
| SMART Domains |
Protein: ENSMUSP00000122783
Gene: ENSMUSG00000003099
| 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 |
probably null
Transcript: ENSMUST00000142597
|
| SMART Domains |
Protein: ENSMUSP00000122783
Gene: ENSMUSG00000003099
| 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: ENSMUST00000145997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156366
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
T |
9: 99,502,725 (GRCm39) |
N295I |
probably damaging |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Apbb1 |
C |
A |
7: 105,216,922 (GRCm39) |
D254Y |
probably damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,621,618 (GRCm39) |
M328V |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,440,325 (GRCm39) |
V143D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,704,996 (GRCm39) |
D493G |
probably damaging |
Het |
| Cers4 |
T |
A |
8: 4,566,992 (GRCm39) |
|
probably null |
Het |
| Clec4d |
A |
G |
6: 123,251,729 (GRCm39) |
R204G |
probably benign |
Het |
| Cngb1 |
C |
A |
8: 95,980,823 (GRCm39) |
R910L |
possibly damaging |
Het |
| Coro2a |
A |
T |
4: 46,564,691 (GRCm39) |
N18K |
probably benign |
Het |
| Cwf19l1 |
A |
G |
19: 44,110,380 (GRCm39) |
F290S |
probably damaging |
Het |
| Esp18 |
C |
T |
17: 39,720,839 (GRCm39) |
T28I |
probably damaging |
Het |
| Hdac10 |
A |
T |
15: 89,011,148 (GRCm39) |
F205Y |
probably benign |
Het |
| Hhip |
T |
A |
8: 80,724,821 (GRCm39) |
H317L |
possibly damaging |
Het |
| Il36b |
G |
A |
2: 24,044,661 (GRCm39) |
M20I |
probably benign |
Het |
| Ilf3 |
T |
A |
9: 21,306,168 (GRCm39) |
N276K |
probably damaging |
Het |
| Jchain |
T |
C |
5: 88,670,376 (GRCm39) |
N81S |
probably benign |
Het |
| Mei4 |
A |
G |
9: 81,907,600 (GRCm39) |
Y211C |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,339,904 (GRCm39) |
E20V |
possibly damaging |
Het |
| Ndufa10 |
A |
G |
1: 92,388,096 (GRCm39) |
|
probably null |
Het |
| Nodal |
A |
G |
10: 61,259,456 (GRCm39) |
T298A |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,966,863 (GRCm39) |
Y47C |
probably damaging |
Het |
| Onecut1 |
C |
T |
9: 74,770,674 (GRCm39) |
R366C |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,804,983 (GRCm39) |
Y259C |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,570,641 (GRCm39) |
E408G |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,648,809 (GRCm39) |
N949S |
probably damaging |
Het |
| Scn7a |
A |
C |
2: 66,527,912 (GRCm39) |
N859K |
possibly damaging |
Het |
| Smarca4 |
T |
C |
9: 21,597,322 (GRCm39) |
I1362T |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,501,022 (GRCm39) |
R343G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
| Trim80 |
C |
T |
11: 115,337,301 (GRCm39) |
Q388* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,818,861 (GRCm39) |
|
probably null |
Het |
| Vmn2r130 |
T |
A |
17: 23,280,461 (GRCm39) |
S41T |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,444 (GRCm39) |
T896S |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,340,006 (GRCm39) |
E749G |
probably damaging |
Het |
| Zbtb24 |
G |
A |
10: 41,327,849 (GRCm39) |
G245E |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,487,167 (GRCm39) |
V767A |
probably benign |
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 |
|
R5303:Ppp5c
|
UTSW |
7 |
16,739,209 (GRCm39) |
missense |
probably benign |
|
|
R5626:Ppp5c
|
UTSW |
7 |
16,761,629 (GRCm39) |
missense |
probably benign |
|
|
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'- TTGGTATCCACTTCTCAGCAG -3'
(R):5'- TTACGACACTTGTGCGGCAG -3'
Sequencing Primer
(F):5'- AGCAGCTCTCCCCAGTCTG -3'
(R):5'- GGTCACTCGGCACTCCTTCG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation