Incidental Mutation 'R7308:Cdca2'
| ID |
567415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdca2
|
| Ensembl Gene |
ENSMUSG00000048922 |
| Gene Name |
cell division cycle associated 2 |
| Synonyms |
2610311M19Rik |
| MMRRC Submission |
045323-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R7308 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 67932440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 488
(P488S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
|
| AlphaFold |
Q14B71 |
| Predicted Effect |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123664
Gene: ENSMUSG00000048922
AA Change: P43S
| 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
AA Change: P488S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: P488S
| 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 benign
Transcript: ENSMUST00000150006
AA Change: P488S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: P488S
| 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 benign
Transcript: ENSMUST00000163100
AA Change: P488S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: P488S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,022,993 (GRCm39) |
I43T |
probably benign |
Het |
| Ankar |
G |
A |
1: 72,690,953 (GRCm39) |
Q1175* |
probably null |
Het |
| Aqr |
G |
A |
2: 113,934,543 (GRCm39) |
A1366V |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,862,392 (GRCm39) |
|
probably null |
Het |
| Atf7ip |
T |
A |
6: 136,542,087 (GRCm39) |
M607K |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
ACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC |
3: 95,795,481 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TCACTGGTTCTGTGGTCACTGGTTCTGTGG |
TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG |
3: 95,795,464 (GRCm39) |
|
probably benign |
Het |
| Bcar3 |
T |
A |
3: 122,302,142 (GRCm39) |
V279E |
probably benign |
Het |
| Cd96 |
C |
T |
16: 45,892,097 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
A |
G |
1: 139,682,041 (GRCm39) |
V185A |
possibly damaging |
Het |
| Col4a2 |
T |
G |
8: 11,456,856 (GRCm39) |
|
probably null |
Het |
| Cyp4a12a |
A |
G |
4: 115,184,955 (GRCm39) |
R379G |
possibly damaging |
Het |
| Defb34 |
A |
G |
8: 19,176,395 (GRCm39) |
S29G |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,959,010 (GRCm39) |
S2958P |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,631,596 (GRCm39) |
D4431G |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,206,015 (GRCm39) |
H84L |
probably benign |
Het |
| Enah |
A |
T |
1: 181,733,950 (GRCm39) |
|
probably null |
Het |
| Fam178b |
G |
T |
1: 36,698,488 (GRCm39) |
Q78K |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,302,931 (GRCm39) |
N589S |
probably damaging |
Het |
| Gm1527 |
C |
T |
3: 28,956,429 (GRCm39) |
H132Y |
probably benign |
Het |
| Gm5799 |
A |
G |
14: 43,781,164 (GRCm39) |
R22G |
possibly damaging |
Het |
| Grip2 |
T |
C |
6: 91,755,669 (GRCm39) |
D617G |
possibly damaging |
Het |
| Hax1 |
A |
T |
3: 89,905,873 (GRCm39) |
D5E |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,057,977 (GRCm39) |
L304P |
probably damaging |
Het |
| Hmox1 |
T |
A |
8: 75,823,647 (GRCm39) |
I105N |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,469,866 (GRCm39) |
S38P |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,157,930 (GRCm39) |
S558P |
possibly damaging |
Het |
| Kcnf1 |
T |
A |
12: 17,224,730 (GRCm39) |
H497L |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,381,003 (GRCm39) |
D1022N |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,790,475 (GRCm39) |
F479S |
possibly damaging |
Het |
| Krba1 |
T |
C |
6: 48,383,273 (GRCm39) |
V203A |
probably benign |
Het |
| Lct |
G |
T |
1: 128,246,824 (GRCm39) |
P233Q |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,164,859 (GRCm39) |
D773G |
probably benign |
Het |
| Malt1 |
T |
C |
18: 65,582,680 (GRCm39) |
|
probably null |
Het |
| Man1a2 |
A |
T |
3: 100,527,421 (GRCm39) |
L333Q |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,535,965 (GRCm39) |
T584A |
probably benign |
Het |
| Myof |
A |
T |
19: 37,899,359 (GRCm39) |
S1800R |
probably damaging |
Het |
| Nbea |
A |
C |
3: 55,998,452 (GRCm39) |
C118W |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 26,130,740 (GRCm39) |
D35V |
probably damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,016,006 (GRCm39) |
V85A |
possibly damaging |
Het |
| Or11g24 |
G |
A |
14: 50,662,722 (GRCm39) |
V249I |
possibly damaging |
Het |
| Or2y1c |
G |
A |
11: 49,360,754 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,736,175 (GRCm39) |
R217H |
possibly damaging |
Het |
| Pcsk4 |
G |
A |
10: 80,159,007 (GRCm39) |
P462L |
probably benign |
Het |
| Pdia5 |
T |
G |
16: 35,276,879 (GRCm39) |
K96N |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,973,074 (GRCm39) |
Y707C |
probably damaging |
Het |
| Ppig |
A |
T |
2: 69,579,806 (GRCm39) |
N447Y |
unknown |
Het |
| Ppp1r9b |
T |
C |
11: 94,895,397 (GRCm39) |
L695P |
possibly damaging |
Het |
| Proser1 |
C |
T |
3: 53,386,125 (GRCm39) |
A669V |
probably benign |
Het |
| Rdx |
A |
T |
9: 51,980,170 (GRCm39) |
K254N |
probably damaging |
Het |
| Slc35f2 |
T |
C |
9: 53,705,294 (GRCm39) |
S95P |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,534,006 (GRCm39) |
S1118T |
probably benign |
Het |
| Slf1 |
G |
A |
13: 77,199,287 (GRCm39) |
P698L |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,801,602 (GRCm39) |
E2338G |
probably benign |
Het |
| Taok3 |
T |
A |
5: 117,338,216 (GRCm39) |
Y91* |
probably null |
Het |
| Tbc1d31 |
C |
T |
15: 57,816,212 (GRCm39) |
L649F |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,872 (GRCm39) |
T223A |
probably benign |
Het |
| Tmem132b |
A |
T |
5: 125,864,710 (GRCm39) |
I939F |
possibly damaging |
Het |
| Trav17 |
T |
A |
14: 54,044,436 (GRCm39) |
Y69N |
probably benign |
Het |
| Trmt13 |
T |
C |
3: 116,388,388 (GRCm39) |
D16G |
probably benign |
Het |
| Upf2 |
T |
A |
2: 5,978,329 (GRCm39) |
Y398N |
unknown |
Het |
| Vmn1r238 |
T |
C |
18: 3,122,875 (GRCm39) |
T180A |
probably benign |
Het |
| Zfp738 |
A |
T |
13: 67,817,672 (GRCm39) |
I773N |
probably benign |
Het |
| Zscan4e |
A |
T |
7: 11,041,080 (GRCm39) |
M264K |
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 |
|
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 |
|
|
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'- ACCACCATGACCATGAAGATTG -3'
(R):5'- ACGACATTTAAGAGCAACTGTG -3'
Sequencing Primer
(F):5'- ACAGGGTTTCTCTGTGTAGCCC -3'
(R):5'- CTGTGACTCAAAAACACTATGCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation