Incidental Mutation 'R4292:Cip2a'
| ID |
323136 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4292 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
48814548-48840072 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48833612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 571
(F571Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048374]
[ENSMUST00000117994]
|
| AlphaFold |
Q8BWY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048374
AA Change: F571Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000044714
Gene: ENSMUSG00000033031
AA Change: F571Y
| 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: F571Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113075
Gene: ENSMUSG00000033031
AA Change: F571Y
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,772,977 (GRCm39) |
K1232E |
possibly damaging |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,199,524 (GRCm39) |
Q20R |
probably damaging |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,079 (GRCm39) |
V311D |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,714,207 (GRCm39) |
A116T |
possibly damaging |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Hddc2 |
A |
T |
10: 31,190,583 (GRCm39) |
M48L |
possibly damaging |
Het |
| Kif18a |
A |
T |
2: 109,128,471 (GRCm39) |
I376L |
probably damaging |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,085,723 (GRCm39) |
K1855R |
possibly damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Or5b98 |
G |
A |
19: 12,931,520 (GRCm39) |
C189Y |
possibly damaging |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,097,834 (GRCm39) |
Y26C |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,899,508 (GRCm39) |
T41A |
probably damaging |
Het |
| Prss58 |
T |
C |
6: 40,874,244 (GRCm39) |
D144G |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,861,344 (GRCm39) |
|
probably null |
Het |
| Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
| Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Slco4c1 |
C |
G |
1: 96,772,381 (GRCm39) |
|
probably null |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Tgfb2 |
T |
C |
1: 186,364,735 (GRCm39) |
H253R |
probably damaging |
Het |
| Top3b |
A |
T |
16: 16,701,383 (GRCm39) |
I232F |
probably damaging |
Het |
| Trim24 |
G |
A |
6: 37,877,627 (GRCm39) |
R39H |
possibly damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,320 (GRCm39) |
M851K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,762,855 (GRCm39) |
V3268A |
possibly damaging |
Het |
| Unc79 |
A |
T |
12: 103,149,703 (GRCm39) |
Q2599L |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,636,996 (GRCm39) |
T693A |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTCTCTGGAAAATTGAGAATG -3'
(R):5'- GTATTCCTGTGGGCAGACAG -3'
Sequencing Primer
(F):5'- GTTTCTCCAAACCTTATTTTATTGGG -3'
(R):5'- CAACGCAGGAGCATTATC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation