Incidental Mutation 'IGL02515:Cip2a'
| ID |
296726 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cip2a
|
| Ensembl Gene |
ENSMUSG00000033031 |
| Gene Name |
cell proliferation regulating inhibitor of protein phosphatase 2A |
| Synonyms |
C330027C09Rik, Cip2a |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
IGL02515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
48814548-48840072 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48826096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 388
(T388A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048374]
[ENSMUST00000117994]
[ENSMUST00000125278]
|
| AlphaFold |
Q8BWY9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048374
AA Change: T388A
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044714
Gene: ENSMUSG00000033031
AA Change: T388A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jdha_
|
47 |
309 |
3e-4 |
SMART |
|
low complexity region
|
439 |
450 |
N/A |
INTRINSIC |
|
coiled coil region
|
635 |
887 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117994
AA Change: T388A
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113075
Gene: ENSMUSG00000033031
AA Change: T388A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jdha_
|
47 |
309 |
2e-4 |
SMART |
|
low complexity region
|
439 |
450 |
N/A |
INTRINSIC |
|
coiled coil region
|
635 |
887 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130080
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic allele display oligozoospermia, small epididymis and impaired spermatogonial progenitor cell maintenance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,153,229 (GRCm39) |
D879G |
probably benign |
Het |
| Atp6v0d2 |
A |
T |
4: 19,880,063 (GRCm39) |
F278Y |
possibly damaging |
Het |
| Dapk3 |
T |
C |
10: 81,025,763 (GRCm39) |
|
probably benign |
Het |
| Dpysl4 |
A |
T |
7: 138,676,651 (GRCm39) |
D367V |
probably damaging |
Het |
| E330034G19Rik |
T |
A |
14: 24,348,052 (GRCm39) |
D101E |
possibly damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,378,933 (GRCm39) |
E811K |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,303,303 (GRCm39) |
V424E |
probably null |
Het |
| Ggt5 |
G |
A |
10: 75,425,604 (GRCm39) |
V21I |
probably benign |
Het |
| Gm5239 |
A |
G |
18: 35,669,787 (GRCm39) |
E51G |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,826,041 (GRCm39) |
S753G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,174,302 (GRCm39) |
Y648F |
probably damaging |
Het |
| Hmgcr |
T |
C |
13: 96,803,020 (GRCm39) |
|
probably benign |
Het |
| Insc |
A |
G |
7: 114,368,243 (GRCm39) |
D11G |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,790,876 (GRCm39) |
D88G |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,987,259 (GRCm39) |
R600W |
probably damaging |
Het |
| Nlrc3 |
C |
A |
16: 3,767,323 (GRCm39) |
|
probably benign |
Het |
| Or5b116 |
T |
A |
19: 13,422,472 (GRCm39) |
I32N |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,087 (GRCm39) |
T196A |
probably benign |
Het |
| Pdcd11 |
A |
T |
19: 47,113,516 (GRCm39) |
D1323V |
probably damaging |
Het |
| Rgl3 |
T |
C |
9: 21,885,396 (GRCm39) |
R645G |
possibly damaging |
Het |
| Rnf2 |
A |
T |
1: 151,347,446 (GRCm39) |
D137E |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,747,952 (GRCm39) |
H430R |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,653,261 (GRCm39) |
V1534A |
possibly damaging |
Het |
| Stip1 |
T |
C |
19: 6,999,487 (GRCm39) |
T432A |
probably benign |
Het |
| Tnfsf14 |
T |
C |
17: 57,499,600 (GRCm39) |
D84G |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,434,525 (GRCm39) |
V601A |
probably damaging |
Het |
| Vmn1r215 |
T |
C |
13: 23,259,990 (GRCm39) |
I10T |
probably benign |
Het |
| Vtn |
A |
T |
11: 78,392,480 (GRCm39) |
I353F |
probably damaging |
Het |
|
| Other mutations in Cip2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Cip2a
|
APN |
16 |
48,822,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00788:Cip2a
|
APN |
16 |
48,829,432 (GRCm39) |
splice site |
probably benign |
|
|
IGL01343:Cip2a
|
APN |
16 |
48,833,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01348:Cip2a
|
APN |
16 |
48,833,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01876:Cip2a
|
APN |
16 |
48,822,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02255:Cip2a
|
APN |
16 |
48,831,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03295:Cip2a
|
APN |
16 |
48,814,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Cip2a
|
UTSW |
16 |
48,821,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Cip2a
|
UTSW |
16 |
48,821,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Cip2a
|
UTSW |
16 |
48,837,736 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0612:Cip2a
|
UTSW |
16 |
48,819,402 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1187:Cip2a
|
UTSW |
16 |
48,820,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1707:Cip2a
|
UTSW |
16 |
48,838,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Cip2a
|
UTSW |
16 |
48,837,849 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1715:Cip2a
|
UTSW |
16 |
48,826,082 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2000:Cip2a
|
UTSW |
16 |
48,835,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2002:Cip2a
|
UTSW |
16 |
48,826,214 (GRCm39) |
splice site |
probably benign |
|
|
R2360:Cip2a
|
UTSW |
16 |
48,837,828 (GRCm39) |
nonsense |
probably null |
|
|
R4093:Cip2a
|
UTSW |
16 |
48,821,339 (GRCm39) |
splice site |
probably benign |
|
|
R4292:Cip2a
|
UTSW |
16 |
48,833,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4293:Cip2a
|
UTSW |
16 |
48,833,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4295:Cip2a
|
UTSW |
16 |
48,833,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4726:Cip2a
|
UTSW |
16 |
48,834,433 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4925:Cip2a
|
UTSW |
16 |
48,836,726 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5735:Cip2a
|
UTSW |
16 |
48,837,856 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5893:Cip2a
|
UTSW |
16 |
48,817,863 (GRCm39) |
missense |
probably benign |
|
|
R6146:Cip2a
|
UTSW |
16 |
48,814,692 (GRCm39) |
nonsense |
probably null |
|
|
R6649:Cip2a
|
UTSW |
16 |
48,837,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7235:Cip2a
|
UTSW |
16 |
48,821,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Cip2a
|
UTSW |
16 |
48,834,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Cip2a
|
UTSW |
16 |
48,826,184 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7365:Cip2a
|
UTSW |
16 |
48,822,016 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7414:Cip2a
|
UTSW |
16 |
48,821,998 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7715:Cip2a
|
UTSW |
16 |
48,834,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7780:Cip2a
|
UTSW |
16 |
48,822,023 (GRCm39) |
nonsense |
probably null |
|
|
R8156:Cip2a
|
UTSW |
16 |
48,817,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Cip2a
|
UTSW |
16 |
48,821,436 (GRCm39) |
nonsense |
probably null |
|
|
R8514:Cip2a
|
UTSW |
16 |
48,817,810 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8701:Cip2a
|
UTSW |
16 |
48,827,504 (GRCm39) |
nonsense |
probably null |
|
|
R9077:Cip2a
|
UTSW |
16 |
48,827,511 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9326:Cip2a
|
UTSW |
16 |
48,834,235 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9575:Cip2a
|
UTSW |
16 |
48,838,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation