Incidental Mutation 'IGL02255:Cip2a'
| ID |
286552 |
| 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 # |
IGL02255
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
48814548-48840072 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48831176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 541
(D541E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048374]
[ENSMUST00000117994]
|
| AlphaFold |
Q8BWY9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048374
AA Change: D541E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044714
Gene: ENSMUSG00000033031
AA Change: D541E
| 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 |
possibly damaging
Transcript: ENSMUST00000117994
AA Change: D541E
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113075
Gene: ENSMUSG00000033031
AA Change: D541E
| 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: ENSMUST00000130080
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133754
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
C |
T |
12: 84,088,799 (GRCm39) |
L216F |
probably damaging |
Het |
| Acp7 |
C |
T |
7: 28,314,148 (GRCm39) |
C349Y |
probably damaging |
Het |
| Cdc42ep5 |
G |
A |
7: 4,154,399 (GRCm39) |
Q130* |
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,301,052 (GRCm39) |
I2353T |
probably benign |
Het |
| Dnmt3a |
T |
A |
12: 3,922,886 (GRCm39) |
|
probably benign |
Het |
| Dtx3l |
A |
G |
16: 35,753,706 (GRCm39) |
V300A |
probably benign |
Het |
| Fbxo15 |
G |
T |
18: 84,982,321 (GRCm39) |
|
probably null |
Het |
| Fbxw22 |
C |
A |
9: 109,215,619 (GRCm39) |
|
probably benign |
Het |
| Gli2 |
A |
T |
1: 118,772,079 (GRCm39) |
|
probably null |
Het |
| Gli3 |
T |
A |
13: 15,823,304 (GRCm39) |
I342N |
probably damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,785 (GRCm39) |
N657I |
possibly damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,372,290 (GRCm39) |
I766N |
probably damaging |
Het |
| Or5b119 |
T |
A |
19: 13,457,349 (GRCm39) |
Y71F |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,654,325 (GRCm39) |
I244N |
probably damaging |
Het |
| Ret |
G |
T |
6: 118,152,081 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
T |
19: 41,861,410 (GRCm39) |
F966I |
probably damaging |
Het |
| Rubcn |
T |
C |
16: 32,647,715 (GRCm39) |
I681V |
probably benign |
Het |
| Selenof |
T |
C |
3: 144,302,588 (GRCm39) |
V121A |
possibly damaging |
Het |
| Srl |
A |
T |
16: 4,305,422 (GRCm39) |
V541D |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,910,047 (GRCm39) |
E184G |
probably benign |
Het |
| Vmn2r81 |
G |
A |
10: 79,083,806 (GRCm39) |
W60* |
probably null |
Het |
| Zfp526 |
A |
G |
7: 24,924,958 (GRCm39) |
M406V |
possibly 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 |
|
IGL02515:Cip2a
|
APN |
16 |
48,826,096 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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