Incidental Mutation 'R2154:Cdca2'
| ID |
234655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdca2
|
| Ensembl Gene |
ENSMUSG00000048922 |
| Gene Name |
cell division cycle associated 2 |
| Synonyms |
2610311M19Rik |
| MMRRC Submission |
040157-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R2154 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 67914425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 945
(P945S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
|
| AlphaFold |
Q14B71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131179
|
| SMART Domains |
Protein: ENSMUSP00000123664
Gene: ENSMUSG00000048922
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000150006
AA Change: P945S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: P945S
| 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 |
probably damaging
Transcript: ENSMUST00000163100
AA Change: P945S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: P945S
| 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 |
noncoding transcript
Transcript: ENSMUST00000175674
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,208,959 (GRCm39) |
E363G |
probably benign |
Het |
| Abca3 |
A |
G |
17: 24,596,693 (GRCm39) |
Y382C |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,183,000 (GRCm39) |
I1019T |
probably benign |
Het |
| Acox3 |
A |
T |
5: 35,762,568 (GRCm39) |
S481C |
probably damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,870,030 (GRCm39) |
M261K |
probably benign |
Het |
| Aqr |
A |
C |
2: 113,967,485 (GRCm39) |
M510R |
probably damaging |
Het |
| Arpc1a |
A |
T |
5: 145,029,369 (GRCm39) |
T56S |
probably benign |
Het |
| Asap2 |
A |
T |
12: 21,162,084 (GRCm39) |
T14S |
probably damaging |
Het |
| Aspg |
A |
G |
12: 112,087,408 (GRCm39) |
E288G |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,482,841 (GRCm39) |
N901S |
probably benign |
Het |
| Cabcoco1 |
A |
G |
10: 68,267,092 (GRCm39) |
L205P |
probably damaging |
Het |
| Cant1 |
A |
G |
11: 118,302,263 (GRCm39) |
L18P |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,513,753 (GRCm39) |
K522E |
possibly damaging |
Het |
| Chek1 |
C |
A |
9: 36,635,279 (GRCm39) |
V35F |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,407,547 (GRCm39) |
M330K |
probably damaging |
Het |
| Creb3l4 |
G |
T |
3: 90,145,792 (GRCm39) |
N246K |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,022,819 (GRCm39) |
V319D |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,877,317 (GRCm39) |
S519T |
probably benign |
Het |
| Dhx38 |
T |
C |
8: 110,287,306 (GRCm39) |
S221G |
probably benign |
Het |
| Dis3l |
T |
A |
9: 64,214,545 (GRCm39) |
N981I |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,870,661 (GRCm39) |
V1467E |
probably damaging |
Het |
| Dock4 |
ACCTGCTCTGCC |
ACCTGCTCTGCCTGCTCTGCC |
12: 40,894,547 (GRCm39) |
|
probably benign |
Het |
| Dok5 |
G |
A |
2: 170,642,816 (GRCm39) |
G38D |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,013,821 (GRCm39) |
S631P |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,688 (GRCm39) |
S194C |
probably damaging |
Het |
| Fcsk |
T |
A |
8: 111,615,704 (GRCm39) |
T542S |
probably benign |
Het |
| Garem2 |
T |
C |
5: 30,313,297 (GRCm39) |
S54P |
probably damaging |
Het |
| Gdf10 |
T |
C |
14: 33,656,346 (GRCm39) |
I436T |
probably damaging |
Het |
| Gfod1 |
T |
C |
13: 43,456,946 (GRCm39) |
T10A |
possibly damaging |
Het |
| Gucy1a1 |
A |
G |
3: 82,018,458 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
G |
T |
17: 79,138,873 (GRCm39) |
Q90K |
probably benign |
Het |
| Ikzf3 |
T |
A |
11: 98,376,475 (GRCm39) |
K211* |
probably null |
Het |
| Itgam |
A |
C |
7: 127,684,749 (GRCm39) |
D373A |
probably damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,089,107 (GRCm39) |
F484S |
probably damaging |
Het |
| Kat6b |
A |
T |
14: 21,718,735 (GRCm39) |
H1138L |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,532,500 (GRCm39) |
K1213R |
probably damaging |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Mmp25 |
T |
A |
17: 23,850,048 (GRCm39) |
Y504F |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,228,797 (GRCm39) |
K38E |
possibly damaging |
Het |
| Myh14 |
A |
C |
7: 44,301,853 (GRCm39) |
|
probably null |
Het |
| Nedd4l |
T |
A |
18: 65,343,401 (GRCm39) |
H820Q |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,307,240 (GRCm39) |
T562A |
probably benign |
Het |
| Or8b49 |
G |
T |
9: 38,505,707 (GRCm39) |
L63F |
probably damaging |
Het |
| Pds5a |
A |
T |
5: 65,807,841 (GRCm39) |
V464E |
probably damaging |
Het |
| Peak1 |
C |
T |
9: 56,114,496 (GRCm39) |
V452M |
probably damaging |
Het |
| Phf2 |
T |
C |
13: 48,973,549 (GRCm39) |
Y372C |
unknown |
Het |
| Poc1a |
T |
A |
9: 106,162,773 (GRCm39) |
|
probably null |
Het |
| Prss33 |
C |
T |
17: 24,053,817 (GRCm39) |
V87M |
probably damaging |
Het |
| Psmc2 |
C |
G |
5: 22,008,127 (GRCm39) |
L344V |
possibly damaging |
Het |
| Ptpn12 |
C |
A |
5: 21,207,466 (GRCm39) |
Q297H |
probably damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,365,453 (GRCm39) |
V242A |
probably damaging |
Het |
| Rad1 |
C |
A |
15: 10,486,721 (GRCm39) |
H39Q |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,986 (GRCm39) |
H636R |
probably benign |
Het |
| Samd9l |
C |
T |
6: 3,372,945 (GRCm39) |
D1439N |
possibly damaging |
Het |
| Sbno1 |
A |
T |
5: 124,516,574 (GRCm39) |
D1266E |
probably benign |
Het |
| Sidt2 |
T |
C |
9: 45,856,638 (GRCm39) |
D477G |
probably damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,037,753 (GRCm39) |
K125R |
probably benign |
Het |
| Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
| Slmap |
A |
G |
14: 26,139,402 (GRCm39) |
Y771H |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,757,299 (GRCm39) |
|
probably benign |
Het |
| Spinkl |
A |
T |
18: 44,302,194 (GRCm39) |
N32K |
probably benign |
Het |
| Stxbp1 |
T |
A |
2: 32,692,868 (GRCm39) |
I383F |
probably damaging |
Het |
| Taf3 |
C |
T |
2: 9,956,377 (GRCm39) |
E597K |
possibly damaging |
Het |
| Tln2 |
T |
C |
9: 67,209,842 (GRCm39) |
T432A |
probably damaging |
Het |
| Tmco6 |
T |
C |
18: 36,874,740 (GRCm39) |
V409A |
probably benign |
Het |
| Tstd2 |
T |
C |
4: 46,129,235 (GRCm39) |
T198A |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,063 (GRCm39) |
M84K |
probably damaging |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,965 (GRCm39) |
S2C |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,816,805 (GRCm39) |
T259S |
probably benign |
Het |
| Vmn2r70 |
A |
G |
7: 85,212,923 (GRCm39) |
S495P |
possibly damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,167,584 (GRCm39) |
R613* |
probably null |
Het |
| Yme1l1 |
T |
C |
2: 23,052,520 (GRCm39) |
L58P |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,412,511 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,466,801 (GRCm39) |
T2320A |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,227,774 (GRCm39) |
D1945G |
possibly damaging |
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 |
|
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 |
|
R5695:Cdca2
|
UTSW |
14 |
67,943,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- TTCCCTAAGAGCCAATGCCAG -3'
(R):5'- GGCTCCAGAGAGACTTGGAAAATAC -3'
Sequencing Primer
(F):5'- AGCCAATGCCAGGTGGG -3'
(R):5'- CTTGGAAAATACAGGGCTTGTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation