Incidental Mutation 'R7292:Cdca2'
| ID |
566510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdca2
|
| Ensembl Gene |
ENSMUSG00000048922 |
| Gene Name |
cell division cycle associated 2 |
| Synonyms |
2610311M19Rik |
| MMRRC Submission |
045397-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R7292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 67915326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 644
(Y644*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
|
| AlphaFold |
Q14B71 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000131179
AA Change: Y198*
|
| SMART Domains |
Protein: ENSMUSP00000123664
Gene: ENSMUSG00000048922
AA Change: Y198*
| 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: Y644*
|
| SMART Domains |
Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: Y644*
| 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: Y644*
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: Y644*
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (66/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,215,861 (GRCm39) |
C322* |
probably null |
Het |
| 4930553M12Rik |
G |
A |
4: 88,786,568 (GRCm39) |
R17C |
unknown |
Het |
| Abcc8 |
G |
A |
7: 45,784,950 (GRCm39) |
T726I |
probably benign |
Het |
| Adamts18 |
T |
C |
8: 114,436,277 (GRCm39) |
T981A |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,570,957 (GRCm39) |
C507R |
probably damaging |
Het |
| Bloc1s6 |
T |
A |
2: 122,584,615 (GRCm39) |
D63E |
probably damaging |
Het |
| Cdc25b |
C |
T |
2: 131,033,093 (GRCm39) |
R135W |
probably damaging |
Het |
| Ceacam10 |
G |
T |
7: 24,477,775 (GRCm39) |
G97C |
probably damaging |
Het |
| Cenpf |
G |
A |
1: 189,382,891 (GRCm39) |
L2668F |
probably damaging |
Het |
| Cog4 |
A |
G |
8: 111,608,460 (GRCm39) |
D774G |
probably damaging |
Het |
| Col11a2 |
G |
A |
17: 34,270,482 (GRCm39) |
G511E |
unknown |
Het |
| Col19a1 |
T |
A |
1: 24,569,089 (GRCm39) |
I220F |
unknown |
Het |
| Cubn |
G |
T |
2: 13,429,550 (GRCm39) |
T1317K |
probably damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,136,072 (GRCm39) |
L24P |
unknown |
Het |
| Eif4a3l2 |
G |
A |
6: 116,528,438 (GRCm39) |
R105Q |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Foxn4 |
C |
A |
5: 114,396,716 (GRCm39) |
E256* |
probably null |
Het |
| Gm5930 |
A |
G |
14: 44,574,014 (GRCm39) |
S108P |
probably damaging |
Het |
| Gnl3 |
A |
G |
14: 30,735,189 (GRCm39) |
S468P |
probably benign |
Het |
| Gzmb |
A |
T |
14: 56,499,576 (GRCm39) |
S11T |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,608,880 (GRCm39) |
|
probably null |
Het |
| Ifi206 |
A |
G |
1: 173,301,428 (GRCm39) |
L750P |
unknown |
Het |
| Ifi213 |
T |
A |
1: 173,422,691 (GRCm39) |
E58V |
probably damaging |
Het |
| Igkv4-78 |
A |
T |
6: 69,036,752 (GRCm39) |
Y94N |
probably damaging |
Het |
| Igsf9 |
G |
T |
1: 172,319,324 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
G |
T |
6: 146,060,447 (GRCm39) |
L2490M |
possibly damaging |
Het |
| Kdm2b |
A |
G |
5: 123,018,854 (GRCm39) |
F862S |
probably damaging |
Het |
| Kif19b |
A |
G |
5: 140,457,425 (GRCm39) |
D398G |
probably benign |
Het |
| Meis1 |
A |
G |
11: 18,961,351 (GRCm39) |
I174T |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,835,166 (GRCm39) |
Q507R |
probably benign |
Het |
| Mpp4 |
C |
T |
1: 59,182,969 (GRCm39) |
E313K |
possibly damaging |
Het |
| Nfatc4 |
G |
A |
14: 56,062,512 (GRCm39) |
E7K |
probably damaging |
Het |
| Or7g16 |
A |
T |
9: 18,727,486 (GRCm39) |
Y35N |
probably damaging |
Het |
| Or9s18 |
T |
A |
13: 65,300,656 (GRCm39) |
V206D |
possibly damaging |
Het |
| Osbpl5 |
G |
A |
7: 143,255,015 (GRCm39) |
P470S |
probably damaging |
Het |
| Pak6 |
A |
G |
2: 118,524,072 (GRCm39) |
D409G |
possibly damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,361,986 (GRCm39) |
M553K |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,089,871 (GRCm39) |
N151D |
probably damaging |
Het |
| Prdm12 |
T |
C |
2: 31,533,862 (GRCm39) |
W160R |
probably damaging |
Het |
| Prdm2 |
G |
A |
4: 142,859,471 (GRCm39) |
T1273M |
possibly damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,991,353 (GRCm39) |
|
probably null |
Het |
| Prob1 |
G |
A |
18: 35,787,603 (GRCm39) |
P217L |
possibly damaging |
Het |
| Ramp1 |
A |
C |
1: 91,124,499 (GRCm39) |
H20P |
probably benign |
Het |
| Rbm47 |
T |
A |
5: 66,184,093 (GRCm39) |
E170V |
possibly damaging |
Het |
| Relch |
G |
T |
1: 105,649,141 (GRCm39) |
|
probably null |
Het |
| Rpn1 |
C |
T |
6: 88,067,066 (GRCm39) |
P142L |
probably damaging |
Het |
| Rsu1 |
C |
T |
2: 13,174,827 (GRCm39) |
R238H |
probably damaging |
Het |
| Sh3rf3 |
C |
T |
10: 58,907,795 (GRCm39) |
P441L |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,650,438 (GRCm39) |
S559G |
possibly damaging |
Het |
| Slc35f5 |
C |
A |
1: 125,500,222 (GRCm39) |
S245R |
probably damaging |
Het |
| Spcs3 |
T |
C |
8: 54,979,554 (GRCm39) |
N76D |
probably benign |
Het |
| Spmip5 |
A |
T |
19: 58,777,539 (GRCm39) |
Y90* |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,111,395 (GRCm39) |
T1075A |
possibly damaging |
Het |
| Sympk |
A |
T |
7: 18,769,955 (GRCm39) |
I211F |
probably benign |
Het |
| Tk1 |
C |
T |
11: 117,716,603 (GRCm39) |
M1I |
probably null |
Het |
| Tln2 |
A |
G |
9: 67,253,743 (GRCm39) |
V776A |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tnk2 |
T |
C |
16: 32,499,618 (GRCm39) |
V977A |
probably benign |
Het |
| Toporsl |
A |
T |
4: 52,611,630 (GRCm39) |
S508C |
probably benign |
Het |
| Trank1 |
A |
C |
9: 111,206,938 (GRCm39) |
R1690S |
probably benign |
Het |
| Trio |
T |
A |
15: 27,828,437 (GRCm39) |
Q1409L |
possibly damaging |
Het |
| Vit |
T |
C |
17: 78,912,927 (GRCm39) |
F287L |
probably benign |
Het |
| Vmn2r109 |
G |
C |
17: 20,761,700 (GRCm39) |
D552E |
probably benign |
Het |
| Zw10 |
T |
C |
9: 48,972,491 (GRCm39) |
V186A |
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 |
|
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 |
|
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 |
|
|
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'- CCTTGAAAAGGTCCTGGCTC -3'
(R):5'- TCTAAGTGTGCTTATATGCCCG -3'
Sequencing Primer
(F):5'- AAAGGTCCTGGCTCTGAGG -3'
(R):5'- CCCGTAGATGATTTCAACAAATGTGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation