Incidental Mutation 'R6866:Cdca2'
| ID |
535940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdca2
|
| Ensembl Gene |
ENSMUSG00000048922 |
| Gene Name |
cell division cycle associated 2 |
| Synonyms |
2610311M19Rik |
| MMRRC Submission |
044965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6866 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67931115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 526
(E526G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
|
| AlphaFold |
Q14B71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130922
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123664
Gene: ENSMUSG00000048922
AA Change: E80G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132705
AA Change: E526G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: E526G
| 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 |
possibly damaging
Transcript: ENSMUST00000150006
AA Change: E526G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: E526G
| 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 |
possibly damaging
Transcript: ENSMUST00000163100
AA Change: E526G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: E526G
| 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: 99.3%
- 20x: 97.7%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,598,080 (GRCm39) |
T1438A |
possibly damaging |
Het |
| Als2 |
T |
A |
1: 59,250,292 (GRCm39) |
Q484L |
probably damaging |
Het |
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Bcl2l13 |
T |
A |
6: 120,839,850 (GRCm39) |
N49K |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,964,406 (GRCm39) |
D1596G |
probably damaging |
Het |
| Brsk1 |
T |
C |
7: 4,709,406 (GRCm39) |
M325T |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,650,532 (GRCm39) |
M137V |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,056,952 (GRCm39) |
S352G |
possibly damaging |
Het |
| Cntnap5c |
A |
C |
17: 58,399,289 (GRCm39) |
T381P |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,833,999 (GRCm39) |
Y633F |
probably damaging |
Het |
| Cryba1 |
T |
C |
11: 77,610,355 (GRCm39) |
N120S |
probably benign |
Het |
| Cyfip2 |
G |
A |
11: 46,133,286 (GRCm39) |
R805* |
probably null |
Het |
| Dnah7c |
C |
A |
1: 46,696,403 (GRCm39) |
P2095Q |
probably damaging |
Het |
| Eif3k |
T |
C |
7: 28,676,651 (GRCm39) |
E110G |
possibly damaging |
Het |
| Extl2 |
T |
A |
3: 115,821,002 (GRCm39) |
M283K |
probably damaging |
Het |
| Extl2 |
A |
G |
3: 115,821,001 (GRCm39) |
M283V |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,321,623 (GRCm39) |
I1658T |
probably benign |
Het |
| Fstl5 |
A |
T |
3: 76,229,532 (GRCm39) |
H111L |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,892,785 (GRCm39) |
|
probably null |
Het |
| Gm3633 |
T |
A |
14: 42,462,579 (GRCm39) |
|
probably benign |
Het |
| Il4i1 |
T |
A |
7: 44,485,963 (GRCm39) |
|
probably null |
Het |
| Kcnj6 |
A |
T |
16: 94,563,536 (GRCm39) |
C321S |
probably damaging |
Het |
| Kif20a |
A |
T |
18: 34,761,546 (GRCm39) |
Y313F |
probably benign |
Het |
| Kmt2d |
T |
G |
15: 98,755,274 (GRCm39) |
|
probably benign |
Het |
| Kynu |
T |
A |
2: 43,453,122 (GRCm39) |
Y48* |
probably null |
Het |
| Ly9 |
T |
C |
1: 171,432,847 (GRCm39) |
I55M |
probably damaging |
Het |
| Mgme1 |
T |
C |
2: 144,118,439 (GRCm39) |
V237A |
probably damaging |
Het |
| Mmp16 |
T |
A |
4: 17,853,800 (GRCm39) |
L27H |
probably benign |
Het |
| Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
A |
C |
11: 67,115,219 (GRCm39) |
D1918A |
probably damaging |
Het |
| Myo5a |
G |
A |
9: 75,047,970 (GRCm39) |
C266Y |
probably damaging |
Het |
| Nckap5l |
A |
G |
15: 99,324,349 (GRCm39) |
I718T |
probably benign |
Het |
| Nptx1 |
A |
G |
11: 119,437,476 (GRCm39) |
|
probably null |
Het |
| Or56a42-ps1 |
T |
A |
7: 104,775,825 (GRCm39) |
M228L |
probably benign |
Het |
| Or5k16 |
A |
G |
16: 58,736,351 (GRCm39) |
Y218H |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,122,377 (GRCm39) |
F260S |
probably damaging |
Het |
| Phc3 |
T |
A |
3: 30,968,680 (GRCm39) |
K783* |
probably null |
Het |
| Pkdrej |
A |
T |
15: 85,705,082 (GRCm39) |
C285S |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 55,960,474 (GRCm39) |
T619S |
possibly damaging |
Het |
| Pramel32 |
T |
A |
4: 88,545,977 (GRCm39) |
D455V |
probably damaging |
Het |
| Psg21 |
A |
T |
7: 18,386,209 (GRCm39) |
V259E |
probably damaging |
Het |
| Pvr |
A |
C |
7: 19,652,555 (GRCm39) |
I120S |
probably benign |
Het |
| Rbm17 |
T |
G |
2: 11,602,901 (GRCm39) |
I68L |
probably benign |
Het |
| Rnf138 |
C |
T |
18: 21,135,199 (GRCm39) |
P28L |
probably damaging |
Het |
| Rnf207 |
C |
T |
4: 152,396,989 (GRCm39) |
C385Y |
possibly damaging |
Het |
| Serping1 |
A |
C |
2: 84,600,577 (GRCm39) |
V255G |
probably benign |
Het |
| Slc25a3 |
A |
T |
10: 90,955,567 (GRCm39) |
V91E |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,455 (GRCm39) |
D896G |
probably benign |
Het |
| Slc27a5 |
T |
A |
7: 12,731,443 (GRCm39) |
T183S |
probably benign |
Het |
| Slc33a1 |
A |
T |
3: 63,850,744 (GRCm39) |
F527I |
probably benign |
Het |
| Sting1 |
T |
C |
18: 35,872,482 (GRCm39) |
H50R |
probably damaging |
Het |
| Strn4 |
A |
T |
7: 16,562,710 (GRCm39) |
D283V |
probably damaging |
Het |
| Sult1e1 |
G |
A |
5: 87,734,625 (GRCm39) |
T107I |
probably damaging |
Het |
| Tango6 |
G |
A |
8: 107,469,104 (GRCm39) |
|
probably null |
Het |
| Tecrl |
G |
T |
5: 83,461,161 (GRCm39) |
P99T |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,343,705 (GRCm39) |
L1190P |
possibly damaging |
Het |
| Timm50 |
C |
T |
7: 28,005,370 (GRCm39) |
R349H |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,079,355 (GRCm39) |
I840T |
probably damaging |
Het |
| Tmem45a2 |
T |
A |
16: 56,867,386 (GRCm39) |
N105I |
probably damaging |
Het |
| Tsbp1 |
T |
A |
17: 34,678,935 (GRCm39) |
C216S |
possibly damaging |
Het |
| Zfp148 |
T |
A |
16: 33,288,496 (GRCm39) |
C162S |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,758,938 (GRCm39) |
K577R |
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 |
|
|
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'- ACAGATTAAGCGGACACTGACG -3'
(R):5'- TGGGTTTTAGCACCGAGTAC -3'
Sequencing Primer
(F):5'- GCAGAACTAGTCCCAGGTCATTAG -3'
(R):5'- TTTTAGCACCGAGTACTGAAGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation