Incidental Mutation 'R5695:Cdca2'
| ID |
443902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdca2
|
| Ensembl Gene |
ENSMUSG00000048922 |
| Gene Name |
cell division cycle associated 2 |
| Synonyms |
2610311M19Rik |
| MMRRC Submission |
043326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R5695 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 67943078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124045]
[ENSMUST00000124045]
[ENSMUST00000132705]
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
[ENSMUST00000163100]
|
| AlphaFold |
Q14B71 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000124045
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000124045
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132705
|
| SMART Domains |
Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PP1_bind
|
378 |
437 |
4.3e-28 |
PFAM |
|
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132705
|
| SMART Domains |
Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PP1_bind
|
378 |
437 |
4.3e-28 |
PFAM |
|
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150006
|
| SMART Domains |
Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PP1_bind
|
378 |
437 |
5.4e-28 |
PFAM |
|
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
942 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155312
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163100
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PP1_bind
|
379 |
436 |
4.1e-27 |
PFAM |
|
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
942 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163100
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PP1_bind
|
379 |
436 |
4.1e-27 |
PFAM |
|
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
942 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
All alleles(24) : Gene trapped(24)
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
A |
12: 84,660,745 (GRCm39) |
H116L |
probably damaging |
Het |
| Anapc4 |
C |
T |
5: 53,019,581 (GRCm39) |
S581L |
probably benign |
Het |
| Ano8 |
A |
C |
8: 71,935,887 (GRCm39) |
D276E |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,407,407 (GRCm39) |
R2098H |
probably benign |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,784,843 (GRCm39) |
G184S |
probably damaging |
Het |
| Cbx8 |
T |
C |
11: 118,930,137 (GRCm39) |
D152G |
probably benign |
Het |
| Cgn |
G |
A |
3: 94,680,945 (GRCm39) |
A531V |
probably benign |
Het |
| Cmya5 |
C |
A |
13: 93,182,374 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,935,769 (GRCm39) |
S365P |
probably damaging |
Het |
| Crnn |
A |
G |
3: 93,056,330 (GRCm39) |
Q372R |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,097,124 (GRCm39) |
E276V |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,890,744 (GRCm39) |
|
probably null |
Het |
| Enpep |
C |
T |
3: 129,102,748 (GRCm39) |
D403N |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,530,806 (GRCm39) |
E550G |
probably damaging |
Het |
| Entpd8 |
A |
G |
2: 24,974,346 (GRCm39) |
D377G |
probably benign |
Het |
| Epc2 |
T |
A |
2: 49,437,619 (GRCm39) |
|
probably null |
Het |
| Erich3 |
G |
T |
3: 154,439,210 (GRCm39) |
G481V |
probably damaging |
Het |
| Fank1 |
A |
G |
7: 133,471,075 (GRCm39) |
Y156C |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,203 (GRCm39) |
D3869G |
probably damaging |
Het |
| Gcnt2 |
A |
G |
13: 41,071,675 (GRCm39) |
D106G |
probably benign |
Het |
| Gm20830 |
A |
T |
Y: 6,916,501 (GRCm39) |
V206E |
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,914,691 (GRCm39) |
V228A |
possibly damaging |
Het |
| Gon4l |
TGAGCA |
TGAGCAGAGCA |
3: 88,803,523 (GRCm39) |
|
probably null |
Het |
| Gtpbp1 |
G |
A |
15: 79,596,375 (GRCm39) |
|
probably null |
Het |
| Hhat |
A |
T |
1: 192,399,327 (GRCm39) |
M271K |
probably damaging |
Het |
| Hipk2 |
A |
T |
6: 38,795,810 (GRCm39) |
M153K |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,261,915 (GRCm39) |
H2672L |
probably benign |
Het |
| Igfbpl1 |
A |
T |
4: 45,826,374 (GRCm39) |
D140E |
probably damaging |
Het |
| Kctd1 |
T |
G |
18: 15,196,573 (GRCm39) |
|
probably benign |
Het |
| Lax1 |
A |
T |
1: 133,608,316 (GRCm39) |
Y142N |
probably damaging |
Het |
| Lpin2 |
C |
T |
17: 71,551,798 (GRCm39) |
R733C |
probably damaging |
Het |
| Morn4 |
A |
G |
19: 42,064,556 (GRCm39) |
L144P |
possibly damaging |
Het |
| Nup214 |
C |
A |
2: 31,924,385 (GRCm39) |
T1638K |
probably damaging |
Het |
| Nyap1 |
C |
T |
5: 137,733,246 (GRCm39) |
A596T |
probably damaging |
Het |
| Oas1d |
T |
C |
5: 121,053,074 (GRCm39) |
M43T |
probably benign |
Het |
| Or4l15 |
T |
C |
14: 50,198,080 (GRCm39) |
T150A |
probably benign |
Het |
| Or6x1 |
T |
C |
9: 40,098,897 (GRCm39) |
V162A |
probably benign |
Het |
| Or8b42 |
A |
G |
9: 38,342,472 (GRCm39) |
H298R |
probably benign |
Het |
| Pacs1 |
A |
G |
19: 5,186,819 (GRCm39) |
F851S |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,683,800 (GRCm39) |
Q89R |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,838,378 (GRCm39) |
|
probably benign |
Het |
| Plekhb1 |
A |
T |
7: 100,304,602 (GRCm39) |
I34N |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,175,397 (GRCm39) |
E1800G |
probably damaging |
Het |
| Rbm33 |
A |
T |
5: 28,544,010 (GRCm39) |
I89F |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,560,531 (GRCm39) |
E436V |
probably damaging |
Het |
| Slc2a4 |
G |
T |
11: 69,837,217 (GRCm39) |
P73Q |
probably damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,245,912 (GRCm39) |
T311S |
probably benign |
Het |
| Sulf2 |
G |
A |
2: 165,974,678 (GRCm39) |
A2V |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,411,601 (GRCm39) |
|
probably null |
Het |
| Vmn1r26 |
A |
T |
6: 57,985,738 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn2r39 |
T |
A |
7: 9,028,150 (GRCm39) |
H407L |
possibly damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,225,064 (GRCm39) |
Y482F |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,973,655 (GRCm39) |
E376G |
probably benign |
Het |
| Wrn |
C |
A |
8: 33,814,346 (GRCm39) |
G366V |
probably benign |
Het |
|
| Other mutations in Cdca2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01115:Cdca2
|
APN |
14 |
67,952,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01413:Cdca2
|
APN |
14 |
67,915,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01962:Cdca2
|
APN |
14 |
67,943,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01982:Cdca2
|
APN |
14 |
67,915,168 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02198:Cdca2
|
APN |
14 |
67,932,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02208:Cdca2
|
APN |
14 |
67,950,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02883:Cdca2
|
APN |
14 |
67,944,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03069:Cdca2
|
APN |
14 |
67,952,385 (GRCm39) |
splice site |
probably benign |
|
|
F5493:Cdca2
|
UTSW |
14 |
67,915,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03046:Cdca2
|
UTSW |
14 |
67,937,471 (GRCm39) |
intron |
probably benign |
|
|
R0254:Cdca2
|
UTSW |
14 |
67,914,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0350:Cdca2
|
UTSW |
14 |
67,950,568 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0368:Cdca2
|
UTSW |
14 |
67,937,796 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0398:Cdca2
|
UTSW |
14 |
67,935,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0790:Cdca2
|
UTSW |
14 |
67,917,740 (GRCm39) |
missense |
probably benign |
|
|
R1104:Cdca2
|
UTSW |
14 |
67,931,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1474:Cdca2
|
UTSW |
14 |
67,952,355 (GRCm39) |
intron |
probably benign |
|
|
R1658:Cdca2
|
UTSW |
14 |
67,915,148 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1782:Cdca2
|
UTSW |
14 |
67,915,260 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2150:Cdca2
|
UTSW |
14 |
67,952,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Cdca2
|
UTSW |
14 |
67,914,425 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2155:Cdca2
|
UTSW |
14 |
67,952,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2862:Cdca2
|
UTSW |
14 |
67,935,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3156:Cdca2
|
UTSW |
14 |
67,935,612 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3840:Cdca2
|
UTSW |
14 |
67,917,720 (GRCm39) |
nonsense |
probably null |
|
|
R4043:Cdca2
|
UTSW |
14 |
67,941,455 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4293:Cdca2
|
UTSW |
14 |
67,952,299 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4679:Cdca2
|
UTSW |
14 |
67,952,415 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4777:Cdca2
|
UTSW |
14 |
67,950,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4829:Cdca2
|
UTSW |
14 |
67,931,202 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4843:Cdca2
|
UTSW |
14 |
67,914,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5031:Cdca2
|
UTSW |
14 |
67,950,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5181:Cdca2
|
UTSW |
14 |
67,917,614 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5331:Cdca2
|
UTSW |
14 |
67,914,920 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5490:Cdca2
|
UTSW |
14 |
67,917,733 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6246:Cdca2
|
UTSW |
14 |
67,915,277 (GRCm39) |
nonsense |
probably null |
|
|
R6866:Cdca2
|
UTSW |
14 |
67,931,115 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6928:Cdca2
|
UTSW |
14 |
67,943,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6955:Cdca2
|
UTSW |
14 |
67,952,453 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R6986:Cdca2
|
UTSW |
14 |
67,932,446 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7080:Cdca2
|
UTSW |
14 |
67,935,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7092:Cdca2
|
UTSW |
14 |
67,944,800 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7292:Cdca2
|
UTSW |
14 |
67,915,326 (GRCm39) |
nonsense |
probably null |
|
|
R7308:Cdca2
|
UTSW |
14 |
67,932,440 (GRCm39) |
missense |
probably benign |
|
|
R7310:Cdca2
|
UTSW |
14 |
67,950,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Cdca2
|
UTSW |
14 |
67,914,665 (GRCm39) |
missense |
probably benign |
|
|
R8012:Cdca2
|
UTSW |
14 |
67,914,821 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8080:Cdca2
|
UTSW |
14 |
67,915,004 (GRCm39) |
nonsense |
probably null |
|
|
R8772:Cdca2
|
UTSW |
14 |
67,935,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9123:Cdca2
|
UTSW |
14 |
67,917,762 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9125:Cdca2
|
UTSW |
14 |
67,917,762 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9252:Cdca2
|
UTSW |
14 |
67,914,831 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9328:Cdca2
|
UTSW |
14 |
67,931,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9406:Cdca2
|
UTSW |
14 |
67,937,772 (GRCm39) |
missense |
unknown |
|
|
R9667:Cdca2
|
UTSW |
14 |
67,915,003 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9678:Cdca2
|
UTSW |
14 |
67,937,778 (GRCm39) |
missense |
unknown |
|
|
Z1088:Cdca2
|
UTSW |
14 |
67,937,747 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Cdca2
|
UTSW |
14 |
67,917,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACAGGAACACATGCATG -3'
(R):5'- AACTCAGTAGCTGCACCGAG -3'
Sequencing Primer
(F):5'- TGCATGCAAGCACACAAAGG -3'
(R):5'- GGCACTACATGGGTATATGCC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation