Incidental Mutation 'IGL01125:Ppp3cc'
| ID |
52712 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp3cc
|
| Ensembl Gene |
ENSMUSG00000022092 |
| Gene Name |
protein phosphatase 3, catalytic subunit, gamma isoform |
| Synonyms |
Calnc, PP2BA gamma |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01125
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
70455314-70526920 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 70455701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 467
(H467Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078434]
[ENSMUST00000228911]
|
| AlphaFold |
P48455 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078434
AA Change: H458Q
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000077532
Gene: ENSMUSG00000022092
AA Change: H458Q
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Ac
|
52 |
343 |
4e-151 |
SMART |
|
low complexity region
|
413 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
500 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228265
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228730
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228911
AA Change: H467Q
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility due to reduced hyperactivated sperm motility and midpiece rigidity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
C |
T |
X: 159,275,704 (GRCm39) |
T931I |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,741,293 (GRCm39) |
|
probably benign |
Het |
| Btd |
T |
A |
14: 31,389,733 (GRCm39) |
F485I |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,934 (GRCm39) |
|
probably benign |
Het |
| Cd300lg |
A |
T |
11: 101,945,047 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
A |
G |
1: 24,263,726 (GRCm39) |
|
probably null |
Het |
| Cybb |
T |
A |
X: 9,312,983 (GRCm39) |
N367I |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,920,149 (GRCm39) |
V479A |
probably benign |
Het |
| Dscaml1 |
G |
T |
9: 45,660,930 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
C |
15: 102,231,373 (GRCm39) |
F51S |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,733,306 (GRCm39) |
D258V |
probably benign |
Het |
| Gvin-ps3 |
A |
T |
7: 105,682,021 (GRCm39) |
N411K |
unknown |
Het |
| Ifngr1 |
C |
T |
10: 19,473,161 (GRCm39) |
|
probably benign |
Het |
| Kcnip1 |
A |
T |
11: 33,583,202 (GRCm39) |
D194E |
probably damaging |
Het |
| Lrrtm1 |
C |
T |
6: 77,221,436 (GRCm39) |
R298C |
probably damaging |
Het |
| Map3k4 |
G |
A |
17: 12,490,849 (GRCm39) |
S194L |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,066 (GRCm39) |
K481E |
possibly damaging |
Het |
| Myh1 |
A |
T |
11: 67,111,486 (GRCm39) |
M1642L |
probably benign |
Het |
| Nol9 |
G |
T |
4: 152,131,066 (GRCm39) |
C363F |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,393,430 (GRCm39) |
S344P |
probably damaging |
Het |
| Or52e5 |
A |
T |
7: 104,718,808 (GRCm39) |
I45F |
probably benign |
Het |
| Phf20 |
G |
A |
2: 156,145,104 (GRCm39) |
|
probably null |
Het |
| Rab28 |
A |
G |
5: 41,793,237 (GRCm39) |
M136T |
probably benign |
Het |
| Rag1 |
A |
G |
2: 101,472,346 (GRCm39) |
I932T |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,868,115 (GRCm39) |
|
probably benign |
Het |
| Slc49a3 |
A |
G |
5: 108,592,458 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,216,639 (GRCm39) |
T647A |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,469,822 (GRCm39) |
C4507S |
probably damaging |
Het |
| Traf3ip3 |
T |
C |
1: 192,866,772 (GRCm39) |
|
probably null |
Het |
| Vmn2r121 |
T |
A |
X: 123,042,504 (GRCm39) |
I218F |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,550 (GRCm39) |
Y25C |
probably damaging |
Het |
|
| Other mutations in Ppp3cc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02182:Ppp3cc
|
APN |
14 |
70,462,473 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02272:Ppp3cc
|
APN |
14 |
70,473,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03207:Ppp3cc
|
APN |
14 |
70,485,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03394:Ppp3cc
|
APN |
14 |
70,462,477 (GRCm39) |
nonsense |
probably null |
|
|
tomap
|
UTSW |
14 |
70,478,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0111:Ppp3cc
|
UTSW |
14 |
70,493,808 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0625:Ppp3cc
|
UTSW |
14 |
70,462,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1368:Ppp3cc
|
UTSW |
14 |
70,483,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Ppp3cc
|
UTSW |
14 |
70,478,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Ppp3cc
|
UTSW |
14 |
70,455,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6198:Ppp3cc
|
UTSW |
14 |
70,485,060 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7042:Ppp3cc
|
UTSW |
14 |
70,462,468 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7209:Ppp3cc
|
UTSW |
14 |
70,504,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7305:Ppp3cc
|
UTSW |
14 |
70,478,252 (GRCm39) |
missense |
probably benign |
|
|
R7406:Ppp3cc
|
UTSW |
14 |
70,483,387 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7509:Ppp3cc
|
UTSW |
14 |
70,504,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7623:Ppp3cc
|
UTSW |
14 |
70,478,394 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7814:Ppp3cc
|
UTSW |
14 |
70,462,464 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8700:Ppp3cc
|
UTSW |
14 |
70,474,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Ppp3cc
|
UTSW |
14 |
70,462,441 (GRCm39) |
missense |
probably benign |
0.40 |
|
RF002:Ppp3cc
|
UTSW |
14 |
70,504,788 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Posted On |
2013-06-21 |
Incidental Mutation