Incidental Mutation 'R8145:Cdcp3'
ID |
632750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdcp3
|
Ensembl Gene |
ENSMUSG00000006204 |
Gene Name |
CUB domain containing protein 3 |
Synonyms |
5430419D17Rik |
MMRRC Submission |
067573-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8145 (G1)
|
Quality Score |
219.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
130776131-130908180 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 130898045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 2088
(V2088L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150784
(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: V2088L
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 90.4%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg6 |
A |
T |
4: 99,634,564 (GRCm39) |
D273V |
probably damaging |
Het |
Ankk1 |
T |
A |
9: 49,327,097 (GRCm39) |
H694L |
possibly damaging |
Het |
Asb7 |
G |
T |
7: 66,309,696 (GRCm39) |
N173K |
probably benign |
Het |
Atp10b |
A |
T |
11: 43,092,949 (GRCm39) |
Q428L |
probably damaging |
Het |
Bag3 |
A |
G |
7: 128,147,612 (GRCm39) |
E409G |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 37,052,416 (GRCm39) |
S3039P |
probably damaging |
Het |
Bpifb2 |
T |
A |
2: 153,733,232 (GRCm39) |
V398E |
probably damaging |
Het |
Btf3l4b |
A |
T |
13: 96,217,649 (GRCm39) |
D63E |
probably benign |
Het |
Ccr6 |
T |
C |
17: 8,474,945 (GRCm39) |
V50A |
probably benign |
Het |
Cdx1 |
T |
C |
18: 61,152,995 (GRCm39) |
N204D |
probably damaging |
Het |
Ciao1 |
T |
C |
2: 127,087,726 (GRCm39) |
D203G |
possibly damaging |
Het |
Cldn7 |
A |
T |
11: 69,856,892 (GRCm39) |
Y47F |
possibly damaging |
Het |
Col6a1 |
A |
T |
10: 76,559,305 (GRCm39) |
D110E |
possibly damaging |
Het |
Cpne6 |
C |
A |
14: 55,752,025 (GRCm39) |
Q261K |
probably benign |
Het |
Crebbp |
T |
C |
16: 3,946,389 (GRCm39) |
T497A |
probably benign |
Het |
Cyp2s1 |
A |
G |
7: 25,507,467 (GRCm39) |
|
probably null |
Het |
Ddx42 |
A |
T |
11: 106,130,887 (GRCm39) |
I454F |
possibly damaging |
Het |
Ddx5 |
G |
T |
11: 106,672,911 (GRCm39) |
A538E |
probably benign |
Het |
Dnajb1 |
T |
A |
8: 84,336,944 (GRCm39) |
V238D |
probably damaging |
Het |
Dntt |
A |
G |
19: 41,044,224 (GRCm39) |
Y463C |
probably damaging |
Het |
Eif4b |
A |
G |
15: 102,001,423 (GRCm39) |
T437A |
unknown |
Het |
Eppk1 |
T |
C |
15: 75,990,900 (GRCm39) |
T1994A |
possibly damaging |
Het |
Fbxw15 |
A |
T |
9: 109,384,658 (GRCm39) |
C381S |
probably benign |
Het |
Fosl2 |
T |
A |
5: 32,310,412 (GRCm39) |
V287D |
probably damaging |
Het |
Gdpd4 |
A |
G |
7: 97,690,077 (GRCm39) |
T590A |
probably benign |
Het |
Gm49368 |
A |
G |
7: 127,712,487 (GRCm39) |
E877G |
probably null |
Het |
Grin2b |
C |
T |
6: 135,709,497 (GRCm39) |
A1350T |
probably benign |
Het |
Gzmk |
A |
G |
13: 113,308,430 (GRCm39) |
L257P |
probably damaging |
Het |
Has2 |
T |
A |
15: 56,545,175 (GRCm39) |
K142N |
probably benign |
Het |
Hectd1 |
T |
C |
12: 51,831,016 (GRCm39) |
E944G |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,629,411 (GRCm39) |
R949G |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,313,117 (GRCm39) |
E3442G |
probably damaging |
Het |
Irf9 |
T |
A |
14: 55,843,255 (GRCm39) |
C152* |
probably null |
Het |
Itga3 |
A |
G |
11: 94,943,290 (GRCm39) |
W936R |
probably damaging |
Het |
Klhl11 |
G |
T |
11: 100,354,740 (GRCm39) |
D360E |
probably damaging |
Het |
Lnx1 |
G |
A |
5: 74,846,060 (GRCm39) |
T130I |
probably benign |
Het |
Lrrc36 |
C |
T |
8: 106,170,396 (GRCm39) |
P82L |
probably damaging |
Het |
Map4k4 |
T |
C |
1: 40,039,694 (GRCm39) |
C29R |
|
Het |
Mki67 |
T |
C |
7: 135,296,065 (GRCm39) |
K2990E |
probably benign |
Het |
Mnt |
G |
A |
11: 74,733,799 (GRCm39) |
A477T |
unknown |
Het |
Mroh9 |
A |
G |
1: 162,890,096 (GRCm39) |
S214P |
probably benign |
Het |
Mrps18b |
C |
A |
17: 36,225,293 (GRCm39) |
R94L |
possibly damaging |
Het |
Myh6 |
T |
A |
14: 55,191,382 (GRCm39) |
I820F |
probably benign |
Het |
Nphp3 |
A |
G |
9: 103,913,050 (GRCm39) |
T943A |
probably benign |
Het |
Or51a25 |
C |
A |
7: 102,372,937 (GRCm39) |
L253F |
probably damaging |
Het |
Or52b4i |
A |
G |
7: 102,191,830 (GRCm39) |
H229R |
probably benign |
Het |
Papolb |
T |
C |
5: 142,514,353 (GRCm39) |
D430G |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,407,458 (GRCm39) |
H334R |
probably benign |
Het |
Pkd1l2 |
T |
A |
8: 117,781,742 (GRCm39) |
M768L |
probably benign |
Het |
Pklr |
G |
T |
3: 89,052,795 (GRCm39) |
R547L |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,716,394 (GRCm39) |
Y697C |
probably benign |
Het |
Prkcd |
T |
C |
14: 30,324,019 (GRCm39) |
T435A |
probably benign |
Het |
Rfx1 |
C |
T |
8: 84,800,657 (GRCm39) |
P86L |
probably benign |
Het |
Rnf19b |
C |
A |
4: 128,977,862 (GRCm39) |
A693D |
probably benign |
Het |
Scn9a |
A |
G |
2: 66,317,754 (GRCm39) |
I1578T |
probably damaging |
Het |
Slamf9 |
A |
G |
1: 172,303,942 (GRCm39) |
S96G |
probably benign |
Het |
Slc17a8 |
T |
C |
10: 89,412,233 (GRCm39) |
D584G |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
Slc2a7 |
C |
A |
4: 150,252,818 (GRCm39) |
T486K |
probably damaging |
Het |
Slc6a20a |
G |
A |
9: 123,466,065 (GRCm39) |
A592V |
probably damaging |
Het |
Spz1 |
T |
C |
13: 92,711,609 (GRCm39) |
D289G |
probably benign |
Het |
Sspo |
G |
A |
6: 48,444,683 (GRCm39) |
C2226Y |
possibly damaging |
Het |
Taf4b |
T |
G |
18: 14,963,085 (GRCm39) |
D608E |
probably damaging |
Het |
Tagap1 |
A |
T |
17: 7,223,526 (GRCm39) |
I390N |
probably damaging |
Het |
Tcp11l2 |
A |
G |
10: 84,444,480 (GRCm39) |
N430D |
probably damaging |
Het |
Thsd7b |
T |
C |
1: 129,688,036 (GRCm39) |
L649P |
probably damaging |
Het |
Tmprss15 |
C |
T |
16: 78,757,473 (GRCm39) |
G956R |
probably damaging |
Het |
Tnc |
G |
T |
4: 63,935,716 (GRCm39) |
Q407K |
probably benign |
Het |
Tti1 |
C |
A |
2: 157,849,509 (GRCm39) |
E577* |
probably null |
Het |
Vmn2r79 |
A |
T |
7: 86,686,862 (GRCm39) |
M748L |
probably benign |
Het |
Zbtb37 |
C |
T |
1: 160,847,654 (GRCm39) |
R451Q |
probably damaging |
Het |
Zfp1002 |
T |
C |
2: 150,096,455 (GRCm39) |
K325E |
probably benign |
Het |
Zfp566 |
A |
T |
7: 29,777,785 (GRCm39) |
I132N |
probably benign |
Het |
Zik1 |
C |
T |
7: 10,223,930 (GRCm39) |
G389E |
probably damaging |
Het |
Zzef1 |
A |
T |
11: 72,799,295 (GRCm39) |
K2382* |
probably null |
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 |
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'- CGCTGTGGATGTGCAACTTG -3'
(R):5'- ATATTCCTTAGGTGCCAGTTTAGG -3'
Sequencing Primer
(F):5'- GGAGTGTTCTTAAGCCATGTTCCAC -3'
(R):5'- CTTAGGTGCCAGTTTAGGTAAGAAAG -3'
|
Posted On |
2020-06-30 |