Incidental Mutation 'R6649:Cip2a'
| ID |
527710 |
| 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 |
044770-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R6649 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
48814548-48840072 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48837829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 843
(Q843L)
|
| 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: Q843L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044714
Gene: ENSMUSG00000033031
AA Change: Q843L
| 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: Q843L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113075
Gene: ENSMUSG00000033031
AA Change: Q843L
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,800,941 (GRCm39) |
H627Q |
probably benign |
Het |
| Abra |
G |
A |
15: 41,732,629 (GRCm39) |
L146F |
probably benign |
Het |
| Adamts7 |
T |
C |
9: 90,073,990 (GRCm39) |
C857R |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,733,836 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
G |
6: 24,562,632 (GRCm39) |
N198S |
probably benign |
Het |
| Asb16 |
A |
T |
11: 102,159,863 (GRCm39) |
Q72L |
possibly damaging |
Het |
| Atosa |
T |
G |
9: 74,917,432 (GRCm39) |
L677R |
probably damaging |
Het |
| Bbox1 |
G |
T |
2: 110,135,914 (GRCm39) |
H22N |
probably benign |
Het |
| Bcdin3d |
T |
C |
15: 99,368,696 (GRCm39) |
T168A |
probably damaging |
Het |
| Bmp1 |
A |
T |
14: 70,728,058 (GRCm39) |
W624R |
probably damaging |
Het |
| Cdh18 |
A |
T |
15: 23,436,620 (GRCm39) |
Y492F |
possibly damaging |
Het |
| Cep290 |
A |
C |
10: 100,354,393 (GRCm39) |
D848A |
probably benign |
Het |
| Cmya5 |
G |
C |
13: 93,234,533 (GRCm39) |
S185C |
possibly damaging |
Het |
| Cops9 |
C |
T |
1: 92,568,136 (GRCm39) |
|
probably benign |
Het |
| Cutal |
C |
T |
2: 34,775,933 (GRCm39) |
T88I |
probably benign |
Het |
| Dlg4 |
G |
T |
11: 69,914,779 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Erp44 |
T |
C |
4: 48,205,130 (GRCm39) |
I288V |
probably null |
Het |
| Fat3 |
T |
C |
9: 16,288,038 (GRCm39) |
D495G |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,798,161 (GRCm39) |
V485A |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,639,269 (GRCm39) |
H453L |
possibly damaging |
Het |
| Gm17027 |
T |
C |
14: 41,981,236 (GRCm39) |
T207A |
unknown |
Het |
| Gm6902 |
T |
G |
7: 22,973,159 (GRCm39) |
T123P |
possibly damaging |
Het |
| Gpat2 |
T |
G |
2: 127,274,355 (GRCm39) |
W366G |
possibly damaging |
Het |
| Heatr6 |
A |
T |
11: 83,650,191 (GRCm39) |
T216S |
probably benign |
Het |
| Hsd17b14 |
T |
C |
7: 45,205,500 (GRCm39) |
V11A |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,266,110 (GRCm39) |
I517N |
probably benign |
Het |
| Kmt5b |
G |
A |
19: 3,857,295 (GRCm39) |
G351R |
probably damaging |
Het |
| Mau2 |
G |
T |
8: 70,484,166 (GRCm39) |
Q141K |
possibly damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,356,305 (GRCm39) |
F137L |
probably damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,360,704 (GRCm39) |
H394R |
probably benign |
Het |
| Mfsd14b |
A |
T |
13: 65,214,599 (GRCm39) |
I451N |
probably damaging |
Het |
| Milr1 |
C |
T |
11: 106,648,537 (GRCm39) |
H143Y |
probably benign |
Het |
| Mon2 |
T |
G |
10: 122,874,385 (GRCm39) |
K321T |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,070,747 (GRCm39) |
N945Y |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,882,527 (GRCm39) |
R60G |
possibly damaging |
Het |
| Or2z2 |
A |
T |
11: 58,346,394 (GRCm39) |
I127N |
probably damaging |
Het |
| Or52b2 |
T |
C |
7: 104,986,914 (GRCm39) |
H3R |
probably benign |
Het |
| Or8g20 |
A |
G |
9: 39,396,048 (GRCm39) |
V164A |
probably benign |
Het |
| Papola |
A |
T |
12: 105,778,566 (GRCm39) |
I315L |
possibly damaging |
Het |
| Phf3 |
A |
T |
1: 30,844,104 (GRCm39) |
S1618R |
possibly damaging |
Het |
| Phyhipl |
A |
G |
10: 70,404,843 (GRCm39) |
F77L |
probably damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,581,094 (GRCm39) |
L110P |
probably damaging |
Het |
| Prss53 |
T |
G |
7: 127,485,747 (GRCm39) |
E531A |
probably benign |
Het |
| Raf1 |
A |
T |
6: 115,608,302 (GRCm39) |
H236Q |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,610,529 (GRCm39) |
V4099A |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2b |
T |
C |
11: 32,365,978 (GRCm39) |
|
probably null |
Het |
| Slco6c1 |
C |
T |
1: 97,053,436 (GRCm39) |
S155N |
probably benign |
Het |
| Speer4f2 |
A |
G |
5: 17,580,767 (GRCm39) |
T115A |
probably benign |
Het |
| Spry1 |
T |
C |
3: 37,696,871 (GRCm39) |
I38T |
probably damaging |
Het |
| Tagap |
T |
C |
17: 8,152,546 (GRCm39) |
V577A |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,200,935 (GRCm39) |
H4706Q |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,820,160 (GRCm39) |
L11Q |
probably null |
Het |
| Zfp60 |
T |
C |
7: 27,448,151 (GRCm39) |
F273S |
probably benign |
Het |
| Zfp938 |
A |
T |
10: 82,061,232 (GRCm39) |
Y463N |
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 |
|
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 |
|
|
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'- GTTTCCCACAAGACATTTGATTTTC -3'
(R):5'- AGCTACAGCCCAAGTTATATAGTC -3'
Sequencing Primer
(F):5'- AAGACATTTGATTTTCCTCATTTTCC -3'
(R):5'- GGAGTTCTTTGCAAATAAAAAGGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation