Incidental Mutation 'R4043:Cdca2'
| ID |
313954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdca2
|
| Ensembl Gene |
ENSMUSG00000048922 |
| Gene Name |
cell division cycle associated 2 |
| Synonyms |
2610311M19Rik |
| MMRRC Submission |
041615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R4043 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67941455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 249
(M249K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124045]
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
|
| AlphaFold |
Q14B71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124045
AA Change: M249K
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132705
AA Change: M249K
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: M249K
| 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: M249K
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: M249K
| 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 benign
Transcript: ENSMUST00000163100
AA Change: M249K
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: M249K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.9%
|
| Validation Efficiency |
97% (64/66) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,409,360 (GRCm39) |
N44D |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,962 (GRCm39) |
F375L |
probably damaging |
Het |
| Bsph1 |
G |
T |
7: 13,192,201 (GRCm39) |
|
probably null |
Het |
| Casp1 |
A |
G |
9: 5,302,444 (GRCm39) |
D122G |
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,521,941 (GRCm39) |
C361Y |
probably benign |
Het |
| Cdc37l1 |
T |
C |
19: 28,968,028 (GRCm39) |
S31P |
possibly damaging |
Het |
| Cfap73 |
C |
T |
5: 120,768,030 (GRCm39) |
|
probably null |
Het |
| Cgnl1 |
A |
G |
9: 71,612,575 (GRCm39) |
L749S |
probably damaging |
Het |
| Cmtr2 |
C |
A |
8: 110,948,462 (GRCm39) |
C257* |
probably null |
Het |
| Col6a4 |
A |
T |
9: 105,949,610 (GRCm39) |
L675* |
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,456,204 (GRCm39) |
D186E |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,619,362 (GRCm39) |
|
probably null |
Het |
| Daglb |
T |
A |
5: 143,472,906 (GRCm39) |
Y354N |
possibly damaging |
Het |
| Dlgap1 |
T |
C |
17: 71,068,075 (GRCm39) |
S549P |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,843,678 (GRCm39) |
D4389G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,229,765 (GRCm39) |
C2631S |
probably benign |
Het |
| Gimap1 |
T |
A |
6: 48,720,176 (GRCm39) |
W263R |
probably damaging |
Het |
| Gne |
A |
C |
4: 44,040,383 (GRCm39) |
C594G |
possibly damaging |
Het |
| Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
| Hdac6 |
T |
C |
X: 7,797,731 (GRCm39) |
T993A |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,871,503 (GRCm39) |
D2703G |
probably benign |
Het |
| Jmjd1c |
G |
A |
10: 67,055,245 (GRCm39) |
V222I |
possibly damaging |
Het |
| Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
| Krt10 |
C |
T |
11: 99,277,819 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
T |
G |
11: 103,389,479 (GRCm39) |
H1982P |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,731,528 (GRCm39) |
L68Q |
probably damaging |
Het |
| Megf10 |
C |
A |
18: 57,392,870 (GRCm39) |
D422E |
probably damaging |
Het |
| Mpz |
C |
T |
1: 170,987,340 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,361,215 (GRCm39) |
T1508S |
possibly damaging |
Het |
| Myo3a |
C |
T |
2: 22,338,350 (GRCm39) |
|
probably benign |
Het |
| Ndnf |
A |
T |
6: 65,680,920 (GRCm39) |
N400Y |
possibly damaging |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Or6p1 |
T |
C |
1: 174,258,657 (GRCm39) |
I221T |
probably damaging |
Het |
| Or7g35 |
G |
T |
9: 19,496,291 (GRCm39) |
V153F |
probably benign |
Het |
| Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,232,824 (GRCm39) |
N1321S |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,920,314 (GRCm39) |
L756Q |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,339,717 (GRCm39) |
M1043V |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,064,144 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
G |
A |
7: 138,484,145 (GRCm39) |
W265* |
probably null |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,975,909 (GRCm39) |
F96S |
probably damaging |
Het |
| Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
| Radil |
T |
A |
5: 142,479,988 (GRCm39) |
I471F |
probably benign |
Het |
| Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
| Rpl10l |
A |
T |
12: 66,330,977 (GRCm39) |
M52K |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,156,380 (GRCm39) |
S510T |
possibly damaging |
Het |
| Sdad1 |
T |
G |
5: 92,450,553 (GRCm39) |
N194T |
probably damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,345,396 (GRCm39) |
Y259* |
probably null |
Het |
| Slc22a26 |
T |
C |
19: 7,765,694 (GRCm39) |
|
probably null |
Het |
| Snap91 |
C |
T |
9: 86,659,102 (GRCm39) |
G477D |
probably damaging |
Het |
| Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
| Srr |
T |
C |
11: 74,799,947 (GRCm39) |
T202A |
probably benign |
Het |
| Srrm1 |
C |
T |
4: 135,068,242 (GRCm39) |
|
probably benign |
Het |
| Trp53bp2 |
T |
A |
1: 182,276,626 (GRCm39) |
L869Q |
possibly damaging |
Het |
| Ttbk1 |
T |
A |
17: 46,757,688 (GRCm39) |
D982V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,624,501 (GRCm39) |
T15324A |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,870,952 (GRCm39) |
E276G |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
| Vps8 |
A |
C |
16: 21,345,146 (GRCm39) |
D823A |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,108 (GRCm39) |
N792K |
possibly damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,734,023 (GRCm39) |
D2V |
possibly damaging |
Het |
| Zfyve16 |
A |
C |
13: 92,650,271 (GRCm39) |
|
probably null |
Het |
| Zmym2 |
T |
A |
14: 57,195,765 (GRCm39) |
|
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 |
|
|
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'- CAGTTGTCAGGTTGGCAGAG -3'
(R):5'- ATGCCTGCTATGAGATCAGTG -3'
Sequencing Primer
(F):5'- CCCAACTCATACTTTGTGATAGCAG -3'
(R):5'- CCTGCTATGAGATCAGTGGAACTAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation