Incidental Mutation 'IGL01343:Cip2a'
| ID |
278294 |
| 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 # |
IGL01343
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
48814548-48840072 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48833551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 551
(I551V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048374]
[ENSMUST00000117994]
|
| AlphaFold |
Q8BWY9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048374
AA Change: I551V
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000044714
Gene: ENSMUSG00000033031
AA Change: I551V
| 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 damaging
Transcript: ENSMUST00000117994
AA Change: I551V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113075
Gene: ENSMUSG00000033031
AA Change: I551V
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149004
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
T |
15: 91,033,416 (GRCm39) |
|
probably benign |
Het |
| Adgrf1 |
T |
A |
17: 43,624,086 (GRCm39) |
F835L |
probably null |
Het |
| Akp3 |
G |
T |
1: 87,054,858 (GRCm39) |
|
probably benign |
Het |
| BC106179 |
G |
T |
16: 23,043,037 (GRCm39) |
|
probably benign |
Het |
| Bysl |
C |
A |
17: 47,912,814 (GRCm39) |
M325I |
probably benign |
Het |
| Crnn |
A |
G |
3: 93,055,633 (GRCm39) |
R140G |
probably benign |
Het |
| Cts8 |
T |
C |
13: 61,397,010 (GRCm39) |
|
probably benign |
Het |
| Cxcr4 |
T |
C |
1: 128,517,292 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,812,150 (GRCm39) |
T691A |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,915,313 (GRCm39) |
F782I |
probably benign |
Het |
| Efcab5 |
C |
T |
11: 77,020,756 (GRCm39) |
G655D |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,252,570 (GRCm39) |
V381I |
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,681,820 (GRCm39) |
Y295* |
probably null |
Het |
| Fbxo28 |
T |
C |
1: 182,144,577 (GRCm39) |
E329G |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,850,127 (GRCm39) |
Q1191R |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 53,013,557 (GRCm39) |
V972D |
probably damaging |
Het |
| Fmr1 |
A |
G |
X: 67,731,901 (GRCm39) |
D22G |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,830,163 (GRCm39) |
T6886A |
possibly damaging |
Het |
| Gadl1 |
A |
G |
9: 115,903,180 (GRCm39) |
*503W |
probably null |
Het |
| Gpc6 |
A |
T |
14: 117,424,224 (GRCm39) |
K104I |
possibly damaging |
Het |
| Hecw2 |
T |
A |
1: 53,866,135 (GRCm39) |
T1509S |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,922,586 (GRCm39) |
L680P |
possibly damaging |
Het |
| Lrrc66 |
A |
T |
5: 73,765,806 (GRCm39) |
N412K |
probably damaging |
Het |
| Marco |
C |
T |
1: 120,422,469 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
T |
C |
12: 66,769,883 (GRCm39) |
T206A |
probably damaging |
Het |
| Mogat2 |
C |
A |
7: 98,881,775 (GRCm39) |
A54S |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,976,040 (GRCm39) |
D1369E |
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,350,186 (GRCm39) |
S840T |
possibly damaging |
Het |
| Ncor1 |
C |
T |
11: 62,216,312 (GRCm39) |
|
probably null |
Het |
| Nfrkb |
C |
A |
9: 31,300,250 (GRCm39) |
L14I |
probably damaging |
Het |
| Notch1 |
C |
A |
2: 26,362,917 (GRCm39) |
A950S |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,362,410 (GRCm39) |
E1405G |
probably benign |
Het |
| Nsd2 |
C |
A |
5: 34,000,922 (GRCm39) |
D146E |
probably damaging |
Het |
| Oc90 |
T |
C |
15: 65,761,440 (GRCm39) |
T193A |
probably benign |
Het |
| Or7c70 |
A |
T |
10: 78,683,431 (GRCm39) |
V106E |
probably damaging |
Het |
| Or8g50 |
C |
A |
9: 39,649,011 (GRCm39) |
A300D |
probably damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,843 (GRCm39) |
K80* |
probably null |
Het |
| Orc2 |
A |
T |
1: 58,532,014 (GRCm39) |
|
probably null |
Het |
| Pacsin2 |
T |
C |
15: 83,270,887 (GRCm39) |
H254R |
probably damaging |
Het |
| Pif1 |
T |
A |
9: 65,496,844 (GRCm39) |
M319K |
probably damaging |
Het |
| Prag1 |
G |
A |
8: 36,570,200 (GRCm39) |
R261H |
possibly damaging |
Het |
| Ptprq |
G |
A |
10: 107,474,700 (GRCm39) |
T1335I |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,490,399 (GRCm39) |
Y3812H |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,380,349 (GRCm39) |
Q828* |
probably null |
Het |
| Skint6 |
A |
G |
4: 113,140,823 (GRCm39) |
V6A |
probably benign |
Het |
| Slc16a13 |
A |
G |
11: 70,111,340 (GRCm39) |
I55T |
probably damaging |
Het |
| Slc22a3 |
A |
T |
17: 12,644,516 (GRCm39) |
W490R |
probably damaging |
Het |
| Speer4b |
G |
T |
5: 27,702,881 (GRCm39) |
H208N |
probably benign |
Het |
| Tas2r124 |
T |
C |
6: 132,732,378 (GRCm39) |
L229S |
probably damaging |
Het |
| Tlr4 |
T |
C |
4: 66,752,124 (GRCm39) |
|
probably benign |
Het |
| Tmed1 |
G |
T |
9: 21,421,369 (GRCm39) |
T35K |
probably damaging |
Het |
| Tubgcp5 |
C |
A |
7: 55,445,779 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,052,247 (GRCm39) |
S250P |
possibly damaging |
Het |
| Zfp516 |
A |
G |
18: 83,011,221 (GRCm39) |
T1085A |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,879,283 (GRCm39) |
I1698V |
probably benign |
Het |
| Zswim8 |
G |
T |
14: 20,763,409 (GRCm39) |
W385C |
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 |
|
|
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 |
|
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