Incidental Mutation 'R5181:Cdca2'
| ID |
397569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdca2
|
| Ensembl Gene |
ENSMUSG00000048922 |
| Gene Name |
cell division cycle associated 2 |
| Synonyms |
2610311M19Rik |
| MMRRC Submission |
042761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5181 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67917614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 595
(S595P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
|
| AlphaFold |
Q14B71 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131179
AA Change: S149P
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123664
Gene: ENSMUSG00000048922
AA Change: S149P
| 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 damaging
Transcript: ENSMUST00000150006
AA Change: S595P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: S595P
| 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 damaging
Transcript: ENSMUST00000163100
AA Change: S595P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: S595P
| 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 |
0.0750 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (54/54) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,764,937 (GRCm39) |
D642E |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,383,347 (GRCm39) |
V54A |
probably benign |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cenpe |
G |
A |
3: 134,948,064 (GRCm39) |
E1208K |
probably damaging |
Het |
| Cfh |
T |
C |
1: 140,075,384 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
A |
14: 31,279,799 (GRCm39) |
H9L |
probably benign |
Het |
| Coq8b |
T |
C |
7: 26,951,747 (GRCm39) |
I403T |
possibly damaging |
Het |
| Cyrib |
T |
A |
15: 63,810,526 (GRCm39) |
M234L |
probably damaging |
Het |
| Dcdc2a |
C |
A |
13: 25,386,347 (GRCm39) |
T407K |
possibly damaging |
Het |
| Dennd2b |
T |
C |
7: 109,155,997 (GRCm39) |
Y251C |
probably benign |
Het |
| Gask1b |
A |
T |
3: 79,793,618 (GRCm39) |
S29C |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Inpp5f |
A |
G |
7: 128,281,555 (GRCm39) |
T519A |
probably damaging |
Het |
| Isl2 |
G |
T |
9: 55,449,561 (GRCm39) |
R79L |
probably benign |
Het |
| Kif9 |
T |
A |
9: 110,350,336 (GRCm39) |
D742E |
probably damaging |
Het |
| Lgi2 |
T |
A |
5: 52,711,792 (GRCm39) |
K176M |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrch4 |
A |
G |
5: 137,627,665 (GRCm39) |
D66G |
probably damaging |
Het |
| Milr1 |
G |
A |
11: 106,645,806 (GRCm39) |
G116D |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,921,071 (GRCm39) |
D1397G |
possibly damaging |
Het |
| Neurod2 |
T |
C |
11: 98,218,204 (GRCm39) |
H320R |
probably benign |
Het |
| Nox3 |
A |
T |
17: 3,685,561 (GRCm39) |
Y562* |
probably null |
Het |
| Nrap |
G |
A |
19: 56,333,960 (GRCm39) |
H884Y |
possibly damaging |
Het |
| Odad4 |
G |
A |
11: 100,440,719 (GRCm39) |
D67N |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,426,981 (GRCm39) |
|
probably null |
Het |
| Pgm2l1 |
G |
A |
7: 99,910,965 (GRCm39) |
C303Y |
probably benign |
Het |
| Phip |
A |
G |
9: 82,753,243 (GRCm39) |
|
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,493,932 (GRCm39) |
I228T |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,861,536 (GRCm39) |
S585P |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,291,339 (GRCm39) |
I718T |
probably damaging |
Het |
| Rpp40 |
T |
C |
13: 36,080,695 (GRCm39) |
|
probably null |
Het |
| Skic2 |
T |
C |
17: 35,063,802 (GRCm39) |
D547G |
probably benign |
Het |
| Slc22a22 |
T |
A |
15: 57,118,519 (GRCm39) |
Y264F |
probably benign |
Het |
| Slc5a4b |
A |
T |
10: 75,896,221 (GRCm39) |
L578* |
probably null |
Het |
| Sptan1 |
A |
T |
2: 29,883,736 (GRCm39) |
|
probably benign |
Het |
| Sult2a4 |
T |
G |
7: 13,722,316 (GRCm39) |
I50L |
probably benign |
Het |
| Taar6 |
T |
C |
10: 23,860,683 (GRCm39) |
T288A |
possibly damaging |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tmem98 |
T |
C |
11: 80,710,758 (GRCm39) |
V139A |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,851,954 (GRCm39) |
Y703H |
probably benign |
Het |
| Ttc34 |
A |
G |
4: 154,946,703 (GRCm39) |
T868A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,665,225 (GRCm39) |
|
probably benign |
Het |
| Vipas39 |
A |
T |
12: 87,286,601 (GRCm39) |
W470R |
probably damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,003 (GRCm39) |
Y117H |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,001 (GRCm39) |
N335S |
possibly damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,387 (GRCm39) |
Y697H |
probably damaging |
Het |
| Wnk4 |
C |
A |
11: 101,156,203 (GRCm39) |
R461S |
probably damaging |
Het |
| Xylb |
T |
A |
9: 119,193,567 (GRCm39) |
L87Q |
probably damaging |
Het |
| Zcchc9 |
T |
A |
13: 91,945,281 (GRCm39) |
K101* |
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,035,705 (GRCm39) |
A404S |
probably benign |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
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 |
|
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 |
|
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'- TTCTGAAAGAGTCTAAGTCCCTC -3'
(R):5'- GCCTCAATCTATCATGGTGCTAC -3'
Sequencing Primer
(F):5'- GAGTCTAAGTCCCTCCTCACAGG -3'
(R):5'- CATGGTGCTACATCATTCTCAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation