Incidental Mutation 'R0398:Cdca2'
| ID |
32152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdca2
|
| Ensembl Gene |
ENSMUSG00000048922 |
| Gene Name |
cell division cycle associated 2 |
| Synonyms |
2610311M19Rik |
| MMRRC Submission |
038603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R0398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 67935411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 435
(F435V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124045]
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
|
| AlphaFold |
Q14B71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124045
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000130922
AA Change: F7V
|
| 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 damaging
Transcript: ENSMUST00000132705
AA Change: F435V
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: F435V
| 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: F435V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: F435V
| 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 damaging
Transcript: ENSMUST00000163100
AA Change: F435V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: F435V
| 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 |
0.1486 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.8%
- 20x: 83.2%
|
| Validation Efficiency |
100% (81/81) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,117,010 (GRCm39) |
Q546R |
probably null |
Het |
| Acr |
T |
G |
15: 89,458,144 (GRCm39) |
V275G |
probably damaging |
Het |
| Adam5 |
A |
G |
8: 25,303,448 (GRCm39) |
Y160H |
probably benign |
Het |
| Adcy5 |
T |
A |
16: 35,089,438 (GRCm39) |
M545K |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,379 (GRCm39) |
E154G |
possibly damaging |
Het |
| Atg2a |
T |
G |
19: 6,296,608 (GRCm39) |
L338R |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,049,590 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,644,866 (GRCm39) |
S436P |
probably benign |
Het |
| Bpnt1 |
T |
C |
1: 185,070,355 (GRCm39) |
Y16H |
probably benign |
Het |
| Cbll1 |
A |
T |
12: 31,542,091 (GRCm39) |
F90Y |
probably damaging |
Het |
| Cbs |
G |
T |
17: 31,836,216 (GRCm39) |
Q411K |
probably benign |
Het |
| Cdh13 |
T |
G |
8: 120,040,786 (GRCm39) |
S664A |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,073,702 (GRCm39) |
V438E |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,266,032 (GRCm39) |
D40G |
possibly damaging |
Het |
| Col6a1 |
T |
C |
10: 76,545,952 (GRCm39) |
H840R |
unknown |
Het |
| Cpa1 |
A |
G |
6: 30,645,250 (GRCm39) |
T409A |
probably benign |
Het |
| Crlf1 |
G |
A |
8: 70,951,739 (GRCm39) |
|
probably benign |
Het |
| E2f2 |
T |
A |
4: 135,907,855 (GRCm39) |
I184N |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,045,886 (GRCm39) |
D596G |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,495,367 (GRCm39) |
R724G |
probably benign |
Het |
| Ets2 |
A |
G |
16: 95,517,267 (GRCm39) |
Y333C |
probably damaging |
Het |
| Fam178b |
A |
G |
1: 36,671,487 (GRCm39) |
|
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,515,928 (GRCm39) |
V626A |
probably benign |
Het |
| Gart |
G |
T |
16: 91,436,337 (GRCm39) |
A140E |
probably damaging |
Het |
| Gbp7 |
T |
C |
3: 142,251,274 (GRCm39) |
S477P |
possibly damaging |
Het |
| Gm16380 |
T |
C |
9: 53,791,453 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
C |
A |
1: 150,674,565 (GRCm39) |
R579M |
possibly damaging |
Het |
| Hoxb8 |
A |
C |
11: 96,173,937 (GRCm39) |
H50P |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,163,706 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
G |
A |
3: 40,711,429 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
T |
6: 24,756,670 (GRCm39) |
Y296F |
probably damaging |
Het |
| Igsf8 |
C |
A |
1: 172,145,066 (GRCm39) |
T131K |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,415,373 (GRCm39) |
P298L |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,259,788 (GRCm39) |
I229N |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,288,688 (GRCm39) |
D1205G |
possibly damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,363,910 (GRCm39) |
R74G |
probably benign |
Het |
| Lvrn |
A |
G |
18: 47,013,760 (GRCm39) |
T481A |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,244,810 (GRCm39) |
T7312S |
probably damaging |
Het |
| Magel2 |
C |
T |
7: 62,030,299 (GRCm39) |
Q1068* |
probably null |
Het |
| Mrpl3 |
A |
G |
9: 104,941,302 (GRCm39) |
Y203C |
probably damaging |
Het |
| Nek2 |
T |
A |
1: 191,559,473 (GRCm39) |
I326N |
probably benign |
Het |
| Nlrc4 |
A |
C |
17: 74,752,915 (GRCm39) |
N489K |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,732 (GRCm39) |
S304R |
possibly damaging |
Het |
| Ogfr |
C |
G |
2: 180,235,492 (GRCm39) |
R189G |
probably damaging |
Het |
| Or52b4i |
T |
A |
7: 102,191,899 (GRCm39) |
L252H |
probably damaging |
Het |
| Or5p78 |
T |
A |
7: 108,212,162 (GRCm39) |
I216N |
probably benign |
Het |
| Or5w8 |
A |
T |
2: 87,688,401 (GRCm39) |
N294I |
probably damaging |
Het |
| Orm3 |
A |
G |
4: 63,275,885 (GRCm39) |
S145G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,731,716 (GRCm39) |
E3406G |
unknown |
Het |
| Pcx |
T |
G |
19: 4,651,638 (GRCm39) |
F4C |
probably benign |
Het |
| Pgd |
C |
A |
4: 149,238,339 (GRCm39) |
G364V |
probably damaging |
Het |
| Pla2g12a |
C |
A |
3: 129,684,045 (GRCm39) |
D102E |
probably benign |
Het |
| Pnpo |
A |
T |
11: 96,833,253 (GRCm39) |
C82* |
probably null |
Het |
| Prdm1 |
T |
C |
10: 44,315,805 (GRCm39) |
N792S |
probably damaging |
Het |
| Prim2 |
A |
T |
1: 33,523,757 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
C |
A |
11: 78,096,094 (GRCm39) |
P242Q |
probably benign |
Het |
| Psmc5 |
A |
G |
11: 106,152,370 (GRCm39) |
N129S |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,688,150 (GRCm39) |
T231A |
possibly damaging |
Het |
| Qrfpr |
C |
T |
3: 36,235,201 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
G |
A |
17: 29,364,344 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,526,508 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,861,385 (GRCm39) |
E25G |
probably damaging |
Het |
| Rpl8 |
G |
C |
15: 76,789,246 (GRCm39) |
|
probably benign |
Het |
| Samd12 |
G |
A |
15: 53,583,116 (GRCm39) |
P73S |
possibly damaging |
Het |
| Samd9l |
T |
A |
6: 3,374,502 (GRCm39) |
N920Y |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,948,476 (GRCm39) |
V607A |
probably benign |
Het |
| Slc25a19 |
A |
G |
11: 115,508,401 (GRCm39) |
Y196H |
probably damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,869,621 (GRCm39) |
M12K |
possibly damaging |
Het |
| Slc5a4a |
T |
C |
10: 76,018,556 (GRCm39) |
I501T |
possibly damaging |
Het |
| Sp4 |
A |
T |
12: 118,262,408 (GRCm39) |
V546D |
possibly damaging |
Het |
| Ssh3 |
C |
T |
19: 4,313,727 (GRCm39) |
V511M |
possibly damaging |
Het |
| Stard9 |
T |
G |
2: 120,526,788 (GRCm39) |
V1015G |
probably benign |
Het |
| Thoc5 |
G |
T |
11: 4,871,978 (GRCm39) |
V516F |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,783,628 (GRCm39) |
I570N |
probably damaging |
Het |
| Ttc4 |
T |
C |
4: 106,524,770 (GRCm39) |
|
probably null |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Yipf3 |
A |
G |
17: 46,562,411 (GRCm39) |
E298G |
possibly damaging |
Het |
| Zbtb34 |
C |
A |
2: 33,301,060 (GRCm39) |
E494* |
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,677,878 (GRCm39) |
Y2976C |
probably 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 |
|
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 |
|
|
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'- ATCTAAGCTGCTAAACTGTCAGCACTC -3'
(R):5'- AAACACCAGGCTGTCTGAATCCG -3'
Sequencing Primer
(F):5'- aaacaggtacatcttataaccaacag -3'
(R):5'- GCTGTCTGAATCCGAGGAAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation