Incidental Mutation 'R4293:Cip2a'
| ID |
323186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cip2a
|
| Ensembl Gene |
ENSMUSG00000033031 |
| Gene Name |
cell proliferation regulating inhibitor of protein phosphatase 2A |
| Synonyms |
C330027C09Rik, Cip2a |
| MMRRC Submission |
041082-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
R4293 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
98% (60/61) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
C |
19: 4,915,468 (GRCm39) |
E428G |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,732,211 (GRCm39) |
I1600T |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,697,713 (GRCm39) |
|
probably benign |
Het |
| Asgr2 |
C |
A |
11: 69,989,057 (GRCm39) |
T167K |
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
| Atpaf1 |
A |
T |
4: 115,645,556 (GRCm39) |
M142L |
probably benign |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,382,308 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,952,299 (GRCm39) |
D24G |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,300,993 (GRCm39) |
R2767G |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
| Ddx18 |
T |
C |
1: 121,489,121 (GRCm39) |
T309A |
probably benign |
Het |
| Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
| Fbf1 |
A |
G |
11: 116,039,720 (GRCm39) |
L713P |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fnbp1 |
A |
G |
2: 30,995,362 (GRCm39) |
F24S |
probably damaging |
Het |
| Gm16686 |
A |
T |
4: 88,673,710 (GRCm39) |
|
probably benign |
Het |
| Gmps |
A |
G |
3: 63,898,040 (GRCm39) |
M275V |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,031,892 (GRCm39) |
|
probably null |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mettl18 |
A |
G |
1: 163,824,171 (GRCm39) |
D164G |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,051,453 (GRCm39) |
T349S |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,860,253 (GRCm39) |
M136T |
probably 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 |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Pik3c3 |
G |
A |
18: 30,477,043 (GRCm39) |
A855T |
probably damaging |
Het |
| Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,147,500 (GRCm39) |
D13E |
possibly damaging |
Het |
| Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
| Slc4a5 |
C |
T |
6: 83,237,511 (GRCm39) |
R165C |
probably damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,260 (GRCm39) |
|
noncoding transcript |
Het |
| Slfn9 |
T |
C |
11: 82,873,334 (GRCm39) |
N523S |
probably benign |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,848,693 (GRCm39) |
T49A |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,084,318 (GRCm39) |
I954V |
probably benign |
Het |
| Tmem237 |
A |
G |
1: 59,158,995 (GRCm39) |
|
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,636,996 (GRCm39) |
T693A |
probably benign |
Het |
| Xpr1 |
A |
G |
1: 155,188,542 (GRCm39) |
F366S |
possibly damaging |
Het |
| Zfp317 |
A |
G |
9: 19,557,990 (GRCm39) |
|
probably null |
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 |
|
|
R4292: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'- TGTAAGTAGAAAAGAGCTCTCTGG -3'
(R):5'- GTATTCCTGTGGGCAGACAG -3'
Sequencing Primer
(F):5'- GCTCTCTGGAAAATTGAGAATGTTTC -3'
(R):5'- CAACGCAGGAGCATTATC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation