Incidental Mutation 'R6750:Cdcp3'
ID |
530701 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdcp3
|
Ensembl Gene |
ENSMUSG00000006204 |
Gene Name |
CUB domain containing protein 3 |
Synonyms |
5430419D17Rik |
MMRRC Submission |
044867-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6750 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
130776131-130908180 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 130889974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124096]
[ENSMUST00000208921]
|
AlphaFold |
no structure available at present |
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 |
unknown
Transcript: ENSMUST00000208921
AA Change: S2005T
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adal |
A |
T |
2: 120,973,130 (GRCm39) |
L62F |
probably damaging |
Het |
Akap13 |
C |
T |
7: 75,389,206 (GRCm39) |
P2375S |
probably benign |
Het |
Apob |
T |
A |
12: 8,047,853 (GRCm39) |
L931Q |
probably damaging |
Het |
Arcn1 |
A |
G |
9: 44,661,691 (GRCm39) |
V391A |
possibly damaging |
Het |
Ccdc162 |
A |
T |
10: 41,437,222 (GRCm39) |
I1729N |
possibly damaging |
Het |
Cd24a |
T |
C |
10: 43,458,721 (GRCm39) |
L86P |
unknown |
Het |
Churc1 |
C |
A |
12: 76,822,405 (GRCm39) |
H71Q |
probably damaging |
Het |
Clcn3 |
A |
G |
8: 61,367,809 (GRCm39) |
L780P |
possibly damaging |
Het |
Cldn17 |
C |
T |
16: 88,303,195 (GRCm39) |
G178E |
possibly damaging |
Het |
Cmah |
A |
G |
13: 24,648,235 (GRCm39) |
Y345C |
probably damaging |
Het |
Cntnap5b |
C |
T |
1: 100,202,224 (GRCm39) |
S357L |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,660,879 (GRCm39) |
I410T |
probably damaging |
Het |
Crmp1 |
T |
C |
5: 37,422,666 (GRCm39) |
|
probably null |
Het |
Csmd2 |
A |
C |
4: 128,091,018 (GRCm39) |
N186H |
possibly damaging |
Het |
Cyp1a1 |
A |
T |
9: 57,607,539 (GRCm39) |
M56L |
probably benign |
Het |
D2hgdh |
G |
C |
1: 93,754,129 (GRCm39) |
R56P |
probably benign |
Het |
Dapk2 |
A |
G |
9: 66,128,034 (GRCm39) |
E104G |
probably damaging |
Het |
Dld |
T |
C |
12: 31,382,213 (GRCm39) |
N498S |
probably benign |
Het |
Dyrk4 |
G |
T |
6: 126,875,918 (GRCm39) |
Q106K |
probably benign |
Het |
Eif2b4 |
T |
C |
5: 31,347,304 (GRCm39) |
I333V |
probably damaging |
Het |
F5 |
A |
G |
1: 164,021,076 (GRCm39) |
T1184A |
possibly damaging |
Het |
Fbxl6 |
C |
T |
15: 76,422,612 (GRCm39) |
G102D |
probably damaging |
Het |
Foxa1 |
C |
T |
12: 57,589,396 (GRCm39) |
G275R |
probably benign |
Het |
Fryl |
A |
G |
5: 73,179,575 (GRCm39) |
I2944T |
probably damaging |
Het |
Gna15 |
T |
C |
10: 81,350,117 (GRCm39) |
D95G |
probably benign |
Het |
Greb1 |
T |
A |
12: 16,738,584 (GRCm39) |
M1460L |
probably benign |
Het |
Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
Herc2 |
T |
C |
7: 55,747,195 (GRCm39) |
I444T |
probably damaging |
Het |
Ifngr1 |
T |
A |
10: 19,485,099 (GRCm39) |
M366K |
probably benign |
Het |
Krt27 |
C |
T |
11: 99,239,806 (GRCm39) |
E253K |
probably damaging |
Het |
Mical2 |
C |
T |
7: 111,981,046 (GRCm39) |
T406I |
probably damaging |
Het |
Mocs2 |
T |
G |
13: 114,962,784 (GRCm39) |
D156E |
probably damaging |
Het |
Mprip |
A |
T |
11: 59,586,957 (GRCm39) |
K43N |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,750,106 (GRCm39) |
T190S |
possibly damaging |
Het |
Naa25 |
C |
T |
5: 121,546,372 (GRCm39) |
T86M |
probably damaging |
Het |
Ncam1 |
T |
C |
9: 49,478,639 (GRCm39) |
D163G |
probably damaging |
Het |
Nlrp4f |
A |
T |
13: 65,329,468 (GRCm39) |
Y908* |
probably null |
Het |
Nlrp9b |
T |
A |
7: 19,757,159 (GRCm39) |
L132* |
probably null |
Het |
Nrg1 |
A |
C |
8: 32,308,124 (GRCm39) |
S679A |
probably damaging |
Het |
Or1j1 |
C |
A |
2: 36,702,954 (GRCm39) |
R50M |
possibly damaging |
Het |
Or52p1 |
C |
T |
7: 104,267,320 (GRCm39) |
R145C |
probably damaging |
Het |
Paqr9 |
A |
T |
9: 95,443,050 (GRCm39) |
T347S |
probably damaging |
Het |
Pcdhb21 |
T |
C |
18: 37,647,501 (GRCm39) |
L210P |
probably damaging |
Het |
Pdzd7 |
T |
G |
19: 45,016,187 (GRCm39) |
D978A |
probably benign |
Het |
Phf8-ps |
A |
T |
17: 33,285,372 (GRCm39) |
S477T |
possibly damaging |
Het |
Pkd1l1 |
A |
T |
11: 8,923,217 (GRCm39) |
S17T |
unknown |
Het |
Plcz1 |
T |
C |
6: 139,974,164 (GRCm39) |
K93E |
possibly damaging |
Het |
Pom121l2 |
G |
C |
13: 22,166,107 (GRCm39) |
R126P |
probably damaging |
Het |
Prkg1 |
C |
T |
19: 31,741,961 (GRCm39) |
E88K |
probably benign |
Het |
Psme4 |
A |
T |
11: 30,803,203 (GRCm39) |
D15V |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,088,928 (GRCm39) |
V625A |
probably benign |
Het |
Rab27a |
G |
A |
9: 72,992,290 (GRCm39) |
S106N |
probably damaging |
Het |
Rasa4 |
A |
G |
5: 136,129,802 (GRCm39) |
T261A |
probably benign |
Het |
Sardh |
T |
C |
2: 27,118,269 (GRCm39) |
D487G |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,330,030 (GRCm39) |
Y662H |
probably benign |
Het |
Sema3d |
T |
A |
5: 12,635,067 (GRCm39) |
L711* |
probably null |
Het |
Septin14 |
T |
A |
5: 129,773,181 (GRCm39) |
Y152F |
probably damaging |
Het |
Smc5 |
A |
G |
19: 23,220,004 (GRCm39) |
L411P |
probably damaging |
Het |
Spata31e5 |
C |
A |
1: 28,816,495 (GRCm39) |
E512D |
probably damaging |
Het |
Spg7 |
T |
A |
8: 123,800,650 (GRCm39) |
V39E |
probably damaging |
Het |
Tas2r117 |
A |
G |
6: 132,779,817 (GRCm39) |
|
probably benign |
Het |
Tle1 |
A |
T |
4: 72,040,687 (GRCm39) |
I631N |
probably damaging |
Het |
Tmed3 |
T |
A |
9: 89,581,843 (GRCm39) |
S207C |
probably damaging |
Het |
Tmem59l |
G |
A |
8: 70,939,022 (GRCm39) |
P51S |
probably benign |
Het |
Trpc3 |
A |
G |
3: 36,678,542 (GRCm39) |
Y848H |
probably damaging |
Het |
Tsen2 |
T |
C |
6: 115,526,881 (GRCm39) |
F66S |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 86,003,384 (GRCm39) |
S216R |
probably damaging |
Het |
Usp22 |
A |
T |
11: 61,048,042 (GRCm39) |
V426E |
probably damaging |
Het |
Vmn2r76 |
T |
C |
7: 85,875,114 (GRCm39) |
N621S |
probably damaging |
Het |
Wdr75 |
A |
G |
1: 45,856,539 (GRCm39) |
T521A |
probably damaging |
Het |
Wrnip1 |
T |
A |
13: 32,986,739 (GRCm39) |
D173E |
probably damaging |
Het |
Zfp317 |
G |
A |
9: 19,559,100 (GRCm39) |
G438D |
probably damaging |
Het |
Zscan10 |
T |
A |
17: 23,826,164 (GRCm39) |
S109T |
possibly damaging |
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 |
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 |
|
R9214:Cdcp3
|
UTSW |
7 |
130,824,481 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- ATCCTGTTGTCTGGGGTCAC -3'
(R):5'- TAAATAAGCCCTCACCTCTGCTTTG -3'
Sequencing Primer
(F):5'- TTGTCTGGGGTCACACACAGATC -3'
(R):5'- CACCTCTGCTTTGCTAAGTAATC -3'
|
Posted On |
2018-08-01 |