Incidental Mutation 'R3840:Cdca2'
ID |
277127 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdca2
|
Ensembl Gene |
ENSMUSG00000048922 |
Gene Name |
cell division cycle associated 2 |
Synonyms |
2610311M19Rik |
MMRRC Submission |
040780-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R3840 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 67917720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 559
(Y559*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127571
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
|
AlphaFold |
Q14B71 |
Predicted Effect |
probably null
Transcript: ENSMUST00000131179
AA Change: Y113*
|
SMART Domains |
Protein: ENSMUSP00000123664 Gene: ENSMUSG00000048922 AA Change: Y113*
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
|
SMART Domains |
Protein: ENSMUSP00000115633 Gene: ENSMUSG00000048922
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 null
Transcript: ENSMUST00000150006
AA Change: Y559*
|
SMART Domains |
Protein: ENSMUSP00000117847 Gene: ENSMUSG00000048922 AA Change: Y559*
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 null
Transcript: ENSMUST00000163100
AA Change: Y559*
|
SMART Domains |
Protein: ENSMUSP00000127571 Gene: ENSMUSG00000048922 AA Change: Y559*
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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
A |
T |
18: 6,620,104 (GRCm39) |
K11N |
probably benign |
Het |
Abcc8 |
A |
G |
7: 45,757,524 (GRCm39) |
I1375T |
possibly damaging |
Het |
Ate1 |
A |
T |
7: 130,117,867 (GRCm39) |
D39E |
probably damaging |
Het |
BC035947 |
G |
T |
1: 78,474,482 (GRCm39) |
N683K |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,231,140 (GRCm39) |
V1316A |
probably damaging |
Het |
Cntnap5b |
C |
T |
1: 100,311,202 (GRCm39) |
T936I |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,805,810 (GRCm39) |
N1032S |
unknown |
Het |
Cracd |
A |
T |
5: 77,006,858 (GRCm39) |
Q1073L |
unknown |
Het |
Epc2 |
A |
G |
2: 49,378,750 (GRCm39) |
K68R |
probably damaging |
Het |
Erbb3 |
A |
T |
10: 128,406,193 (GRCm39) |
F1075I |
probably benign |
Het |
F11r |
G |
T |
1: 171,288,457 (GRCm39) |
R100L |
probably damaging |
Het |
Fam171b |
C |
A |
2: 83,710,406 (GRCm39) |
Q693K |
possibly damaging |
Het |
Fam83c |
C |
T |
2: 155,676,668 (GRCm39) |
R34H |
probably benign |
Het |
Fmn2 |
GAAGA |
GAAGAAAGA |
1: 174,409,599 (GRCm39) |
|
probably null |
Het |
Gask1b |
T |
A |
3: 79,815,897 (GRCm39) |
D302E |
probably benign |
Het |
Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
Hsph1 |
T |
A |
5: 149,544,180 (GRCm39) |
|
probably null |
Het |
Jhy |
T |
A |
9: 40,856,142 (GRCm39) |
E115V |
probably benign |
Het |
Kcnu1 |
G |
T |
8: 26,375,380 (GRCm39) |
V365L |
possibly damaging |
Het |
Lrrc4c |
A |
G |
2: 97,460,537 (GRCm39) |
T388A |
probably damaging |
Het |
Mastl |
T |
C |
2: 23,030,563 (GRCm39) |
D202G |
probably damaging |
Het |
Medag |
T |
A |
5: 149,350,888 (GRCm39) |
I121N |
probably damaging |
Het |
Mideas |
T |
C |
12: 84,218,383 (GRCm39) |
R526G |
probably damaging |
Het |
Mocos |
C |
T |
18: 24,809,681 (GRCm39) |
A428V |
probably damaging |
Het |
Mok |
C |
T |
12: 110,781,591 (GRCm39) |
V59M |
probably benign |
Het |
Neb |
C |
A |
2: 52,097,672 (GRCm39) |
|
probably null |
Het |
Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
Or10al7 |
A |
G |
17: 38,366,239 (GRCm39) |
S73P |
probably damaging |
Het |
Or52s1 |
G |
A |
7: 102,861,900 (GRCm39) |
G267R |
probably damaging |
Het |
Otud1 |
G |
T |
2: 19,663,554 (GRCm39) |
E228* |
probably null |
Het |
Pcdhga11 |
A |
T |
18: 37,890,602 (GRCm39) |
N537Y |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,839,050 (GRCm39) |
Y878C |
probably damaging |
Het |
Podxl |
C |
T |
6: 31,500,016 (GRCm39) |
V485I |
probably damaging |
Het |
Psmd12 |
T |
C |
11: 107,376,398 (GRCm39) |
I44T |
probably benign |
Het |
Rap1gap |
T |
C |
4: 137,444,758 (GRCm39) |
F182S |
probably damaging |
Het |
Slc22a13 |
T |
C |
9: 119,037,855 (GRCm39) |
D91G |
probably benign |
Het |
Slc4a11 |
A |
G |
2: 130,529,974 (GRCm39) |
F268S |
probably damaging |
Het |
Snap91 |
C |
T |
9: 86,721,618 (GRCm39) |
V74M |
probably damaging |
Het |
Tmem87b |
T |
A |
2: 128,668,304 (GRCm39) |
L150* |
probably null |
Het |
Tmprss7 |
T |
A |
16: 45,481,195 (GRCm39) |
R664* |
probably null |
Het |
Tnfrsf11b |
T |
A |
15: 54,115,478 (GRCm39) |
H373L |
probably damaging |
Het |
Tnfrsf23 |
A |
G |
7: 143,235,266 (GRCm39) |
S33P |
probably benign |
Het |
Tro |
A |
G |
X: 149,429,198 (GRCm39) |
|
probably benign |
Het |
Tulp1 |
A |
G |
17: 28,572,689 (GRCm39) |
V489A |
probably damaging |
Het |
Wac |
C |
A |
18: 7,918,535 (GRCm39) |
P416H |
probably damaging |
Het |
Zap70 |
T |
A |
1: 36,817,498 (GRCm39) |
I247N |
probably damaging |
Het |
Zfp617 |
G |
A |
8: 72,685,961 (GRCm39) |
G97E |
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 |
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 |
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'- CCTCACAGGTTCCAGACTTC -3'
(R):5'- GATTACCTTTCTGGCATTTGAGC -3'
Sequencing Primer
(F):5'- ACAGGTTCCAGACTTCAACTTC -3'
(R):5'- GGGCCTCAATCTATCATGG -3'
|
Posted On |
2015-04-06 |