Incidental Mutation 'IGL01982:Cdca2'
| ID |
182736 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdca2
|
| Ensembl Gene |
ENSMUSG00000048922 |
| Gene Name |
cell division cycle associated 2 |
| Synonyms |
2610311M19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL01982
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67915168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 697
(V697E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
|
| AlphaFold |
Q14B71 |
| 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 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: V697E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: V697E
| 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: V697E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: V697E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175674
|
| Coding Region Coverage |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,385,857 (GRCm39) |
S254A |
probably benign |
Het |
| Abca7 |
T |
G |
10: 79,838,475 (GRCm39) |
L583R |
probably damaging |
Het |
| Acp1 |
A |
T |
12: 30,961,491 (GRCm39) |
L14H |
possibly damaging |
Het |
| Adar |
A |
G |
3: 89,645,397 (GRCm39) |
I3V |
probably benign |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,845 (GRCm39) |
I103V |
probably benign |
Het |
| Asic3 |
C |
A |
5: 24,622,719 (GRCm39) |
T523N |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,419,326 (GRCm39) |
V1732A |
probably benign |
Het |
| Atad3a |
C |
T |
4: 155,838,384 (GRCm39) |
R211Q |
possibly damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,178,299 (GRCm39) |
Y2286C |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,099,078 (GRCm39) |
E569G |
probably damaging |
Het |
| Bpifb3 |
A |
G |
2: 153,767,521 (GRCm39) |
N237S |
probably benign |
Het |
| Bysl |
C |
A |
17: 47,921,996 (GRCm39) |
|
probably null |
Het |
| C2cd6 |
T |
C |
1: 59,106,932 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
A |
G |
2: 76,861,003 (GRCm39) |
F925L |
probably damaging |
Het |
| Cers1 |
A |
G |
8: 70,776,081 (GRCm39) |
D324G |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,732 (GRCm39) |
I91F |
probably benign |
Het |
| Ctsq |
C |
T |
13: 61,187,335 (GRCm39) |
C11Y |
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,711,252 (GRCm39) |
N142S |
possibly damaging |
Het |
| Cyp3a59 |
G |
T |
5: 146,041,545 (GRCm39) |
S363I |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,132,919 (GRCm39) |
D567E |
probably benign |
Het |
| Esf1 |
G |
A |
2: 140,006,448 (GRCm39) |
A233V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,887,107 (GRCm39) |
I2630F |
possibly damaging |
Het |
| Fyb1 |
A |
T |
15: 6,609,658 (GRCm39) |
E77V |
probably null |
Het |
| Gjb6 |
C |
A |
14: 57,362,030 (GRCm39) |
W77L |
probably damaging |
Het |
| Gm21983 |
A |
G |
7: 26,879,703 (GRCm39) |
V88A |
possibly damaging |
Het |
| Gm8247 |
A |
G |
14: 44,823,088 (GRCm39) |
T52A |
probably damaging |
Het |
| Gpr108 |
T |
C |
17: 57,544,877 (GRCm39) |
K329E |
probably damaging |
Het |
| Gpr141 |
T |
A |
13: 19,935,908 (GRCm39) |
H289L |
probably benign |
Het |
| Ilvbl |
T |
C |
10: 78,414,856 (GRCm39) |
Y240H |
probably damaging |
Het |
| Kntc1 |
G |
A |
5: 123,947,159 (GRCm39) |
A1868T |
probably benign |
Het |
| Lrmda |
A |
C |
14: 22,634,550 (GRCm39) |
N112T |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,142,108 (GRCm39) |
Y1334C |
probably damaging |
Het |
| Macc1 |
C |
A |
12: 119,409,369 (GRCm39) |
P46T |
probably benign |
Het |
| Madd |
A |
T |
2: 91,006,052 (GRCm39) |
F381Y |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,128,677 (GRCm39) |
Q38* |
probably null |
Het |
| Mcm4 |
A |
T |
16: 15,448,284 (GRCm39) |
D424E |
possibly damaging |
Het |
| Micu1 |
T |
A |
10: 59,699,100 (GRCm39) |
M463K |
possibly damaging |
Het |
| Mkrn2os |
A |
G |
6: 115,562,492 (GRCm39) |
L157P |
probably damaging |
Het |
| Nectin2 |
A |
G |
7: 19,451,487 (GRCm39) |
S516P |
probably damaging |
Het |
| Nme5 |
T |
A |
18: 34,702,928 (GRCm39) |
D120V |
probably damaging |
Het |
| Npy4r |
T |
C |
14: 33,869,282 (GRCm39) |
N2S |
possibly damaging |
Het |
| Nup107 |
A |
T |
10: 117,595,245 (GRCm39) |
|
probably benign |
Het |
| Omd |
T |
C |
13: 49,742,973 (GRCm39) |
Y8H |
possibly damaging |
Het |
| Phf8-ps |
T |
G |
17: 33,285,289 (GRCm39) |
E504D |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,803 (GRCm39) |
|
probably benign |
Het |
| Ppp2ca |
T |
C |
11: 51,989,891 (GRCm39) |
F6L |
probably benign |
Het |
| Rab1a |
T |
C |
11: 20,174,717 (GRCm39) |
S97P |
probably benign |
Het |
| Ranbp3l |
G |
A |
15: 9,058,827 (GRCm39) |
G359R |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,334,094 (GRCm39) |
H3101L |
probably damaging |
Het |
| Slc27a4 |
T |
C |
2: 29,702,627 (GRCm39) |
F509S |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,114,946 (GRCm39) |
V623A |
probably benign |
Het |
| Spart |
T |
A |
3: 55,035,911 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
A |
G |
2: 29,909,980 (GRCm39) |
D1780G |
probably damaging |
Het |
| Tgm7 |
G |
T |
2: 120,924,106 (GRCm39) |
Y605* |
probably null |
Het |
| Tmem106b |
T |
C |
6: 13,071,968 (GRCm39) |
|
probably benign |
Het |
| Trak2 |
G |
A |
1: 58,965,814 (GRCm39) |
A120V |
possibly damaging |
Het |
| Trappc8 |
G |
A |
18: 21,007,769 (GRCm39) |
|
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,057,970 (GRCm39) |
T973A |
probably benign |
Het |
| Ttyh3 |
C |
A |
5: 140,621,829 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
A |
C |
5: 87,390,291 (GRCm39) |
I385S |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,039,180 (GRCm39) |
N1220S |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,623,773 (GRCm39) |
I155N |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,439,050 (GRCm39) |
Q377* |
probably null |
Het |
| Washc2 |
A |
T |
6: 116,213,150 (GRCm39) |
E570D |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,657,699 (GRCm39) |
V168A |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,788 (GRCm39) |
C169S |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation