Incidental Mutation 'R9214:Cdcp3'
ID |
699069 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdcp3
|
Ensembl Gene |
ENSMUSG00000006204 |
Gene Name |
CUB domain containing protein 3 |
Synonyms |
5430419D17Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9214 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
130776131-130908180 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 130824481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 192
(S192L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050586]
[ENSMUST00000124096]
[ENSMUST00000208921]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050586
AA Change: S192L
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000061529 Gene: ENSMUSG00000006204 AA Change: S192L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
85 |
105 |
N/A |
INTRINSIC |
SR
|
144 |
244 |
3.3e-57 |
SMART |
CUB
|
272 |
378 |
1.2e-16 |
SMART |
SR
|
428 |
528 |
3.9e-56 |
SMART |
low complexity region
|
533 |
548 |
N/A |
INTRINSIC |
CUB
|
556 |
667 |
5.1e-38 |
SMART |
SR
|
680 |
780 |
1.5e-57 |
SMART |
Pfam:CUB
|
795 |
840 |
3.1e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
SMART Domains |
Protein: ENSMUSP00000130971 Gene: ENSMUSG00000030849
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208921
AA Change: S192L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,890,653 (GRCm39) |
D352G |
probably benign |
Het |
Abi1 |
A |
T |
2: 22,831,989 (GRCm39) |
Y447* |
probably null |
Het |
Acot1 |
A |
G |
12: 84,064,189 (GRCm39) |
Y124C |
|
Het |
Adgrf4 |
T |
C |
17: 42,978,704 (GRCm39) |
N213S |
possibly damaging |
Het |
Alg9 |
T |
A |
9: 50,717,545 (GRCm39) |
Y443N |
probably damaging |
Het |
Bhlhe22 |
A |
G |
3: 18,109,024 (GRCm39) |
T25A |
probably benign |
Het |
Bpifa1 |
C |
A |
2: 153,985,789 (GRCm39) |
P35T |
unknown |
Het |
Btbd16 |
T |
C |
7: 130,381,437 (GRCm39) |
|
probably null |
Het |
Ccdc187 |
G |
T |
2: 26,183,409 (GRCm39) |
T197K |
probably benign |
Het |
Cd209b |
A |
G |
8: 3,968,771 (GRCm39) |
V295A |
probably benign |
Het |
Clrn2 |
G |
T |
5: 45,617,518 (GRCm39) |
A130S |
probably benign |
Het |
Cnrip1 |
A |
G |
11: 17,004,740 (GRCm39) |
T97A |
probably damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,758,940 (GRCm39) |
T2089A |
possibly damaging |
Het |
Cyfip1 |
T |
A |
7: 55,523,273 (GRCm39) |
|
probably null |
Het |
Ddx1 |
A |
G |
12: 13,286,119 (GRCm39) |
S278P |
probably benign |
Het |
Dnah12 |
A |
C |
14: 26,445,060 (GRCm39) |
E654D |
probably benign |
Het |
Efcab7 |
T |
C |
4: 99,735,437 (GRCm39) |
S154P |
probably damaging |
Het |
Emcn |
T |
C |
3: 137,047,029 (GRCm39) |
F10S |
probably damaging |
Het |
Fhip2a |
A |
G |
19: 57,373,756 (GRCm39) |
H672R |
probably damaging |
Het |
Flg2 |
G |
T |
3: 93,110,884 (GRCm39) |
A971S |
unknown |
Het |
Gli2 |
A |
T |
1: 118,795,791 (GRCm39) |
H121Q |
probably damaging |
Het |
Gm3633 |
A |
G |
14: 42,460,359 (GRCm39) |
|
probably benign |
Het |
Golga2 |
T |
C |
2: 32,195,822 (GRCm39) |
L846P |
probably damaging |
Het |
Golga7b |
A |
T |
19: 42,255,440 (GRCm39) |
I106F |
probably damaging |
Het |
Hltf |
T |
C |
3: 20,140,280 (GRCm39) |
S460P |
probably benign |
Het |
Hyal5 |
A |
G |
6: 24,876,403 (GRCm39) |
Y92C |
probably damaging |
Het |
Kif19b |
G |
A |
5: 140,468,257 (GRCm39) |
R649Q |
probably benign |
Het |
Mapk1 |
T |
A |
16: 16,853,549 (GRCm39) |
C84S |
probably benign |
Het |
Marchf10 |
A |
G |
11: 105,281,100 (GRCm39) |
V395A |
probably benign |
Het |
Meltf |
A |
G |
16: 31,697,763 (GRCm39) |
T7A |
probably benign |
Het |
Mfhas1 |
T |
A |
8: 36,057,730 (GRCm39) |
V735D |
probably damaging |
Het |
Mia2 |
G |
T |
12: 59,223,150 (GRCm39) |
R486L |
possibly damaging |
Het |
Mmp20 |
T |
C |
9: 7,628,327 (GRCm39) |
L25P |
probably benign |
Het |
Mprip |
C |
T |
11: 59,650,901 (GRCm39) |
T1535I |
possibly damaging |
Het |
Mrpl9 |
T |
A |
3: 94,355,126 (GRCm39) |
S233T |
possibly damaging |
Het |
Muc21 |
T |
A |
17: 35,931,838 (GRCm39) |
S783C |
unknown |
Het |
Nckap5 |
A |
C |
1: 125,942,376 (GRCm39) |
V1576G |
probably benign |
Het |
Ntng1 |
T |
C |
3: 109,841,921 (GRCm39) |
Y284C |
probably damaging |
Het |
Numa1 |
T |
A |
7: 101,650,139 (GRCm39) |
V1290D |
probably damaging |
Het |
Or52l1 |
T |
G |
7: 104,829,587 (GRCm39) |
Y326S |
probably benign |
Het |
Pcdhgc4 |
A |
T |
18: 37,950,264 (GRCm39) |
D560V |
probably damaging |
Het |
Pla2g1b |
A |
G |
5: 115,610,107 (GRCm39) |
K84E |
possibly damaging |
Het |
Pramel16 |
T |
C |
4: 143,675,750 (GRCm39) |
I359V |
probably benign |
Het |
Prrt4 |
C |
T |
6: 29,170,767 (GRCm39) |
A562T |
possibly damaging |
Het |
Rab6a |
T |
C |
7: 100,275,786 (GRCm39) |
F33S |
probably damaging |
Het |
Rgs11 |
A |
G |
17: 26,427,260 (GRCm39) |
Y397C |
probably damaging |
Het |
Rnf43 |
A |
T |
11: 87,622,111 (GRCm39) |
H277L |
probably benign |
Het |
Ryr1 |
A |
G |
7: 28,785,187 (GRCm39) |
S1842P |
possibly damaging |
Het |
Slc25a34 |
C |
T |
4: 141,350,641 (GRCm39) |
A123T |
probably damaging |
Het |
Smoc2 |
A |
G |
17: 14,556,839 (GRCm39) |
Y96C |
probably damaging |
Het |
Sqle |
A |
G |
15: 59,194,765 (GRCm39) |
E267G |
probably benign |
Het |
Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
Stx6 |
T |
A |
1: 155,067,210 (GRCm39) |
N133K |
probably benign |
Het |
Taf7l2 |
T |
C |
10: 115,948,903 (GRCm39) |
T208A |
probably benign |
Het |
Thoc5 |
A |
T |
11: 4,864,303 (GRCm39) |
Q320L |
probably benign |
Het |
Tmc4 |
G |
C |
7: 3,670,497 (GRCm39) |
C531W |
probably damaging |
Het |
Tmigd1 |
A |
G |
11: 76,801,031 (GRCm39) |
T173A |
probably damaging |
Het |
Tpp2 |
A |
C |
1: 44,031,514 (GRCm39) |
M1111L |
probably benign |
Het |
Ttc21a |
T |
C |
9: 119,772,941 (GRCm39) |
V206A |
probably benign |
Het |
Ulk1 |
A |
T |
5: 110,936,663 (GRCm39) |
V758E |
possibly damaging |
Het |
Vdr |
T |
A |
15: 97,767,600 (GRCm39) |
H130L |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,623,892 (GRCm39) |
T1270A |
probably damaging |
Het |
Zc3h13 |
A |
G |
14: 75,560,991 (GRCm39) |
D527G |
unknown |
Het |
Zfp512 |
C |
T |
5: 31,637,434 (GRCm39) |
R508W |
probably damaging |
Het |
Zfp606 |
A |
G |
7: 12,215,026 (GRCm39) |
T85A |
unknown |
Het |
|
Other mutations in Cdcp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00226:Cdcp3
|
APN |
7 |
130,839,823 (GRCm39) |
splice site |
probably null |
|
IGL00848:Cdcp3
|
APN |
7 |
130,848,453 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00966:Cdcp3
|
APN |
7 |
130,844,836 (GRCm39) |
nonsense |
probably null |
|
IGL01286:Cdcp3
|
APN |
7 |
130,848,432 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01303:Cdcp3
|
APN |
7 |
130,796,060 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01585:Cdcp3
|
APN |
7 |
130,846,487 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01665:Cdcp3
|
APN |
7 |
130,848,386 (GRCm39) |
nonsense |
probably null |
|
IGL01953:Cdcp3
|
APN |
7 |
130,826,709 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02427:Cdcp3
|
APN |
7 |
130,846,517 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02508:Cdcp3
|
APN |
7 |
130,824,559 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02678:Cdcp3
|
APN |
7 |
130,830,646 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03092:Cdcp3
|
APN |
7 |
130,803,527 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03122:Cdcp3
|
APN |
7 |
130,798,243 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL03343:Cdcp3
|
APN |
7 |
130,848,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R0011:Cdcp3
|
UTSW |
7 |
130,831,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R0011:Cdcp3
|
UTSW |
7 |
130,831,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R0234:Cdcp3
|
UTSW |
7 |
130,796,032 (GRCm39) |
splice site |
probably null |
|
R0234:Cdcp3
|
UTSW |
7 |
130,796,032 (GRCm39) |
splice site |
probably null |
|
R0268:Cdcp3
|
UTSW |
7 |
130,839,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R0383:Cdcp3
|
UTSW |
7 |
130,841,268 (GRCm39) |
missense |
probably benign |
0.05 |
R0973:Cdcp3
|
UTSW |
7 |
130,839,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R0973:Cdcp3
|
UTSW |
7 |
130,839,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R0974:Cdcp3
|
UTSW |
7 |
130,839,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1572:Cdcp3
|
UTSW |
7 |
130,846,560 (GRCm39) |
nonsense |
probably null |
|
R1911:Cdcp3
|
UTSW |
7 |
130,839,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R2032:Cdcp3
|
UTSW |
7 |
130,844,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R2097:Cdcp3
|
UTSW |
7 |
130,783,693 (GRCm39) |
nonsense |
probably null |
|
R2221:Cdcp3
|
UTSW |
7 |
130,849,186 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2223:Cdcp3
|
UTSW |
7 |
130,849,186 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2254:Cdcp3
|
UTSW |
7 |
130,824,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R2913:Cdcp3
|
UTSW |
7 |
130,783,753 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2991:Cdcp3
|
UTSW |
7 |
130,848,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R3439:Cdcp3
|
UTSW |
7 |
130,790,508 (GRCm39) |
critical splice donor site |
probably null |
|
R4418:Cdcp3
|
UTSW |
7 |
130,849,194 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4916:Cdcp3
|
UTSW |
7 |
130,776,206 (GRCm39) |
splice site |
probably null |
|
R5488:Cdcp3
|
UTSW |
7 |
130,848,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R5594:Cdcp3
|
UTSW |
7 |
130,841,252 (GRCm39) |
missense |
probably benign |
0.12 |
R5897:Cdcp3
|
UTSW |
7 |
130,798,280 (GRCm39) |
splice site |
probably null |
|
R5898:Cdcp3
|
UTSW |
7 |
130,843,696 (GRCm39) |
splice site |
probably null |
|
R5940:Cdcp3
|
UTSW |
7 |
130,839,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R6170:Cdcp3
|
UTSW |
7 |
130,776,216 (GRCm39) |
splice site |
probably null |
|
R6187:Cdcp3
|
UTSW |
7 |
130,872,328 (GRCm39) |
intron |
probably benign |
|
R6321:Cdcp3
|
UTSW |
7 |
130,858,735 (GRCm39) |
critical splice donor site |
probably null |
|
R6409:Cdcp3
|
UTSW |
7 |
130,863,800 (GRCm39) |
intron |
probably benign |
|
R6432:Cdcp3
|
UTSW |
7 |
130,846,601 (GRCm39) |
critical splice donor site |
probably null |
|
R6481:Cdcp3
|
UTSW |
7 |
130,858,530 (GRCm39) |
missense |
probably benign |
0.05 |
R6750:Cdcp3
|
UTSW |
7 |
130,889,974 (GRCm39) |
intron |
probably benign |
|
R6783:Cdcp3
|
UTSW |
7 |
130,828,493 (GRCm39) |
missense |
probably damaging |
0.99 |
R6836:Cdcp3
|
UTSW |
7 |
130,798,233 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6925:Cdcp3
|
UTSW |
7 |
130,824,436 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6995:Cdcp3
|
UTSW |
7 |
130,824,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R7199:Cdcp3
|
UTSW |
7 |
130,837,641 (GRCm39) |
nonsense |
probably null |
|
R7205:Cdcp3
|
UTSW |
7 |
130,879,352 (GRCm39) |
critical splice donor site |
probably null |
|
R7340:Cdcp3
|
UTSW |
7 |
130,879,344 (GRCm39) |
missense |
unknown |
|
R7354:Cdcp3
|
UTSW |
7 |
130,873,762 (GRCm39) |
missense |
unknown |
|
R7354:Cdcp3
|
UTSW |
7 |
130,858,458 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7434:Cdcp3
|
UTSW |
7 |
130,881,212 (GRCm39) |
missense |
unknown |
|
R7485:Cdcp3
|
UTSW |
7 |
130,830,562 (GRCm39) |
missense |
probably damaging |
0.99 |
R7513:Cdcp3
|
UTSW |
7 |
130,873,800 (GRCm39) |
missense |
unknown |
|
R7562:Cdcp3
|
UTSW |
7 |
130,904,426 (GRCm39) |
missense |
unknown |
|
R7623:Cdcp3
|
UTSW |
7 |
130,879,295 (GRCm39) |
splice site |
probably null |
|
R7782:Cdcp3
|
UTSW |
7 |
130,904,466 (GRCm39) |
splice site |
probably null |
|
R7879:Cdcp3
|
UTSW |
7 |
130,844,871 (GRCm39) |
missense |
probably damaging |
0.98 |
R7935:Cdcp3
|
UTSW |
7 |
130,852,205 (GRCm39) |
missense |
probably damaging |
0.96 |
R7949:Cdcp3
|
UTSW |
7 |
130,895,324 (GRCm39) |
splice site |
probably null |
|
R7964:Cdcp3
|
UTSW |
7 |
130,899,963 (GRCm39) |
missense |
unknown |
|
R7980:Cdcp3
|
UTSW |
7 |
130,836,506 (GRCm39) |
missense |
probably damaging |
0.98 |
R8145:Cdcp3
|
UTSW |
7 |
130,898,045 (GRCm39) |
missense |
unknown |
|
R8673:Cdcp3
|
UTSW |
7 |
130,844,846 (GRCm39) |
missense |
probably damaging |
0.99 |
R8684:Cdcp3
|
UTSW |
7 |
130,837,688 (GRCm39) |
nonsense |
probably null |
|
R8721:Cdcp3
|
UTSW |
7 |
130,879,335 (GRCm39) |
missense |
unknown |
|
R8725:Cdcp3
|
UTSW |
7 |
130,875,485 (GRCm39) |
missense |
unknown |
|
R8727:Cdcp3
|
UTSW |
7 |
130,875,485 (GRCm39) |
missense |
unknown |
|
R8742:Cdcp3
|
UTSW |
7 |
130,783,741 (GRCm39) |
missense |
unknown |
|
R8807:Cdcp3
|
UTSW |
7 |
130,846,507 (GRCm39) |
missense |
probably damaging |
0.97 |
R8822:Cdcp3
|
UTSW |
7 |
130,843,706 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8861:Cdcp3
|
UTSW |
7 |
130,861,690 (GRCm39) |
nonsense |
probably null |
|
R8897:Cdcp3
|
UTSW |
7 |
130,867,566 (GRCm39) |
missense |
unknown |
|
R8900:Cdcp3
|
UTSW |
7 |
130,904,197 (GRCm39) |
intron |
probably benign |
|
R9218:Cdcp3
|
UTSW |
7 |
130,863,728 (GRCm39) |
missense |
unknown |
|
R9311:Cdcp3
|
UTSW |
7 |
130,859,490 (GRCm39) |
missense |
unknown |
|
R9323:Cdcp3
|
UTSW |
7 |
130,828,401 (GRCm39) |
missense |
probably damaging |
0.96 |
R9384:Cdcp3
|
UTSW |
7 |
130,904,404 (GRCm39) |
missense |
unknown |
|
R9387:Cdcp3
|
UTSW |
7 |
130,863,620 (GRCm39) |
missense |
unknown |
|
R9417:Cdcp3
|
UTSW |
7 |
130,852,218 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9502:Cdcp3
|
UTSW |
7 |
130,836,815 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9603:Cdcp3
|
UTSW |
7 |
130,830,643 (GRCm39) |
missense |
probably damaging |
0.98 |
R9642:Cdcp3
|
UTSW |
7 |
130,848,257 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Cdcp3
|
UTSW |
7 |
130,848,362 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cdcp3
|
UTSW |
7 |
130,867,595 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAGAGAAGGTGGCTTGTATC -3'
(R):5'- AAGGGTGTTCTCCTGGAAGG -3'
Sequencing Primer
(F):5'- AGAAGGTGGCTTGTATCTCCCTG -3'
(R):5'- TTCTCCTGGAAGGGCCGAAG -3'
|
Posted On |
2022-02-07 |