Incidental Mutation 'R3156:Cdca2'
| ID |
263515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdca2
|
| Ensembl Gene |
ENSMUSG00000048922 |
| Gene Name |
cell division cycle associated 2 |
| Synonyms |
2610311M19Rik |
| MMRRC Submission |
040607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R3156 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67935612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 368
(N368D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124045]
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
|
| AlphaFold |
Q14B71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124045
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130922
|
| 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 |
possibly damaging
Transcript: ENSMUST00000132705
AA Change: N368D
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: N368D
| 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: N368D
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: N368D
| 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: N368D
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: N368D
| 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 |
0.0801 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (39/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
C |
1: 85,859,104 (GRCm39) |
|
probably benign |
Het |
| Adra2b |
T |
C |
2: 127,205,570 (GRCm39) |
L29P |
probably damaging |
Het |
| Anxa9 |
A |
T |
3: 95,209,716 (GRCm39) |
D134E |
probably benign |
Het |
| Atad1 |
A |
T |
19: 32,684,355 (GRCm39) |
N14K |
probably benign |
Het |
| Cbl |
T |
C |
9: 44,070,147 (GRCm39) |
I533M |
possibly damaging |
Het |
| Cfap45 |
A |
T |
1: 172,373,291 (GRCm39) |
N543Y |
possibly damaging |
Het |
| Col4a2 |
T |
A |
8: 11,363,414 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,219,032 (GRCm39) |
T633A |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,438,237 (GRCm39) |
|
probably benign |
Het |
| Fut2 |
A |
T |
7: 45,300,091 (GRCm39) |
L227Q |
probably damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,014,654 (GRCm39) |
V275A |
probably benign |
Het |
| Glrp1 |
C |
A |
1: 88,430,976 (GRCm39) |
Q131H |
unknown |
Het |
| Gm6871 |
T |
C |
7: 41,223,079 (GRCm39) |
N3S |
probably benign |
Het |
| Hmgcs1 |
C |
T |
13: 120,166,614 (GRCm39) |
T402I |
probably benign |
Het |
| Hps6 |
A |
G |
19: 45,992,180 (GRCm39) |
D39G |
probably damaging |
Het |
| Mab21l4 |
T |
A |
1: 93,087,764 (GRCm39) |
I30F |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,446,179 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,182,125 (GRCm39) |
I1761T |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,796,262 (GRCm39) |
|
probably null |
Het |
| Or4k15c |
T |
C |
14: 50,321,982 (GRCm39) |
D52G |
probably benign |
Het |
| Or7g27 |
A |
G |
9: 19,250,720 (GRCm39) |
|
probably null |
Het |
| Patj |
A |
G |
4: 98,562,465 (GRCm39) |
E1478G |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,832,878 (GRCm39) |
T304A |
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,679,071 (GRCm39) |
K1006N |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
G |
T |
13: 53,271,400 (GRCm39) |
N306K |
probably damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,038 (GRCm39) |
D248G |
probably benign |
Het |
| Secisbp2 |
A |
G |
13: 51,816,711 (GRCm39) |
T288A |
probably benign |
Het |
| Setbp1 |
A |
G |
18: 78,902,518 (GRCm39) |
V383A |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,844,605 (GRCm39) |
S143T |
possibly damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,747,421 (GRCm39) |
I322N |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,260,016 (GRCm39) |
|
probably null |
Het |
| Tex2 |
A |
G |
11: 106,424,695 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
T |
15: 76,523,721 (GRCm39) |
L64Q |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,640,716 (GRCm39) |
N191D |
probably benign |
Het |
| Trpc1 |
C |
T |
9: 95,603,185 (GRCm39) |
|
probably null |
Het |
| Yeats4 |
C |
T |
10: 117,058,186 (GRCm39) |
V22I |
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 |
|
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'- GAAACTGCTCATGAACGGGG -3'
(R):5'- AGATGATCGGCCTGACATGG -3'
Sequencing Primer
(F):5'- TGCTCATGAACGGGGGACTG -3'
(R):5'- TGGGGTTTTTAATCCCCAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation