Incidental Mutation 'R6928:Cdca2'
| ID |
539866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdca2
|
| Ensembl Gene |
ENSMUSG00000048922 |
| Gene Name |
cell division cycle associated 2 |
| Synonyms |
2610311M19Rik |
| MMRRC Submission |
045045-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6928 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67943193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 199
(S199P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124045]
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
|
| AlphaFold |
Q14B71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124045
AA Change: S199P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132705
AA Change: S199P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: S199P
| 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: S199P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: S199P
| 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: S199P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: S199P
| 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 |
0.0743 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.5%
|
| Validation Efficiency |
98% (62/63) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
A |
G |
6: 55,456,257 (GRCm39) |
D215G |
possibly damaging |
Het |
| Asb3 |
A |
T |
11: 30,948,326 (GRCm39) |
M40L |
probably damaging |
Het |
| Aspg |
G |
A |
12: 112,093,123 (GRCm39) |
V547M |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,407,944 (GRCm39) |
L2277* |
probably null |
Het |
| Atp7b |
A |
G |
8: 22,484,828 (GRCm39) |
S1295P |
probably benign |
Het |
| Cdh1 |
A |
G |
8: 107,387,642 (GRCm39) |
E514G |
possibly damaging |
Het |
| Cenpk |
G |
T |
13: 104,365,500 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
C |
A |
9: 105,817,118 (GRCm39) |
V398L |
unknown |
Het |
| Colec10 |
A |
T |
15: 54,326,002 (GRCm39) |
K277N |
probably damaging |
Het |
| Cryzl2 |
T |
G |
1: 157,298,357 (GRCm39) |
S249A |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,805,164 (GRCm39) |
Y1992N |
possibly damaging |
Het |
| Drd3 |
G |
T |
16: 43,641,683 (GRCm39) |
R333L |
probably benign |
Het |
| Espl1 |
C |
T |
15: 102,207,342 (GRCm39) |
R269C |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,212,252 (GRCm39) |
C188Y |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,267,112 (GRCm39) |
D1041G |
unknown |
Het |
| Frem3 |
T |
C |
8: 81,337,911 (GRCm39) |
F68S |
possibly damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,634 (GRCm39) |
V212A |
probably damaging |
Het |
| Gzmb |
T |
C |
14: 56,497,734 (GRCm39) |
K169E |
probably benign |
Het |
| Hexd |
T |
A |
11: 121,102,880 (GRCm39) |
F33I |
possibly damaging |
Het |
| Hsd3b6 |
T |
C |
3: 98,718,269 (GRCm39) |
I32V |
probably benign |
Het |
| Jcad |
T |
C |
18: 4,673,372 (GRCm39) |
V378A |
probably benign |
Het |
| Kcnmb2 |
T |
C |
3: 32,253,190 (GRCm39) |
S177P |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,050,800 (GRCm39) |
S651T |
possibly damaging |
Het |
| Map3k2 |
T |
C |
18: 32,340,593 (GRCm39) |
|
probably null |
Het |
| Mib1 |
T |
G |
18: 10,802,282 (GRCm39) |
S870A |
probably benign |
Het |
| Moap1 |
T |
A |
12: 102,708,871 (GRCm39) |
N226I |
probably damaging |
Het |
| Moxd1 |
T |
A |
10: 24,176,186 (GRCm39) |
N547K |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,781,042 (GRCm39) |
V16A |
probably benign |
Het |
| Nme1 |
T |
C |
11: 93,850,229 (GRCm39) |
Y151C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,408,653 (GRCm39) |
F879L |
probably benign |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,245,796 (GRCm39) |
Y197* |
probably null |
Het |
| Or5ac25 |
C |
A |
16: 59,181,826 (GRCm39) |
G252C |
probably damaging |
Het |
| Or5b102 |
A |
T |
19: 13,041,348 (GRCm39) |
H191L |
probably benign |
Het |
| Or5b99 |
A |
G |
19: 12,977,202 (GRCm39) |
N284S |
probably damaging |
Het |
| Or8d23 |
T |
C |
9: 38,841,862 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,928 (GRCm39) |
M268V |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,647,474 (GRCm39) |
E201G |
probably damaging |
Het |
| Plscr1 |
T |
C |
9: 92,152,004 (GRCm39) |
V301A |
possibly damaging |
Het |
| Psg28 |
A |
T |
7: 18,157,003 (GRCm39) |
S411T |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 51,985,973 (GRCm39) |
W653R |
probably damaging |
Het |
| Rnd3 |
T |
A |
2: 51,022,518 (GRCm39) |
I175L |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,656,791 (GRCm39) |
E199G |
possibly damaging |
Het |
| Sgpp1 |
T |
C |
12: 75,763,344 (GRCm39) |
Y279C |
probably damaging |
Het |
| Slc2a13 |
A |
G |
15: 91,160,382 (GRCm39) |
I524T |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,290,586 (GRCm39) |
|
probably null |
Het |
| Spg11 |
C |
T |
2: 121,900,385 (GRCm39) |
V1556I |
probably benign |
Het |
| Spopfm1 |
T |
A |
3: 94,173,855 (GRCm39) |
C288S |
probably benign |
Het |
| Srebf2 |
C |
T |
15: 82,087,924 (GRCm39) |
R215* |
probably null |
Het |
| Tdpoz8 |
G |
A |
3: 92,981,267 (GRCm39) |
C95Y |
probably damaging |
Het |
| Tmem19 |
T |
C |
10: 115,183,179 (GRCm39) |
N147S |
possibly damaging |
Het |
| Tpr |
T |
C |
1: 150,284,536 (GRCm39) |
S408P |
possibly damaging |
Het |
| Trav13d-4 |
C |
T |
14: 53,310,618 (GRCm39) |
T53I |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,099,307 (GRCm39) |
R168W |
possibly damaging |
Het |
| Trim11 |
A |
G |
11: 58,879,669 (GRCm39) |
K273R |
probably damaging |
Het |
| Tsacc |
T |
A |
3: 88,190,247 (GRCm39) |
M68L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,584,869 (GRCm39) |
M22110L |
probably benign |
Het |
| Zfp160 |
G |
T |
17: 21,261,724 (GRCm39) |
G104V |
probably benign |
Het |
| Zfp582 |
T |
C |
7: 6,357,266 (GRCm39) |
Y360H |
probably damaging |
Het |
| Zranb1 |
G |
A |
7: 132,568,323 (GRCm39) |
R301H |
possibly 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 |
|
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 |
|
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'- GCCATAGCAACAACGTGGTG -3'
(R):5'- AACTCAGTAGCTGCACCGAG -3'
Sequencing Primer
(F):5'- GGAACTCATATCACTGGTCCTTACAG -3'
(R):5'- GGCACTACATGGGTATATGCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation