Incidental Mutation 'R5940:Cdcp3'
ID |
462497 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdcp3
|
Ensembl Gene |
ENSMUSG00000006204 |
Gene Name |
CUB domain containing protein 3 |
Synonyms |
5430419D17Rik |
MMRRC Submission |
044132-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5940 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
130776131-130908180 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 130839992 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 638
(D638V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150784
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050586]
[ENSMUST00000124096]
[ENSMUST00000208921]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050586
AA Change: D522V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000061529 Gene: ENSMUSG00000006204 AA Change: D522V
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 |
probably benign
Transcript: ENSMUST00000128522
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208921
AA Change: D638V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
96% (88/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,384,645 (GRCm39) |
Y440C |
possibly damaging |
Het |
Aasdh |
G |
T |
5: 77,030,745 (GRCm39) |
S618R |
probably benign |
Het |
Alpk1 |
T |
G |
3: 127,464,595 (GRCm39) |
T1228P |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,756,316 (GRCm39) |
V850A |
probably benign |
Het |
Apeh |
A |
T |
9: 107,969,098 (GRCm39) |
|
probably null |
Het |
Ash1l |
C |
T |
3: 88,891,343 (GRCm39) |
T1074I |
probably damaging |
Het |
C3 |
G |
A |
17: 57,517,244 (GRCm39) |
S1297F |
possibly damaging |
Het |
Cchcr1 |
G |
A |
17: 35,835,890 (GRCm39) |
R284Q |
probably damaging |
Het |
Cd93 |
A |
T |
2: 148,284,152 (GRCm39) |
I398N |
probably benign |
Het |
Chrd |
G |
T |
16: 20,553,336 (GRCm39) |
R226L |
probably null |
Het |
Clvs1 |
A |
T |
4: 9,449,443 (GRCm39) |
N344I |
possibly damaging |
Het |
Cyp4v3 |
A |
T |
8: 45,774,821 (GRCm39) |
I111N |
probably damaging |
Het |
Cysltr2 |
T |
A |
14: 73,267,389 (GRCm39) |
Y107F |
probably damaging |
Het |
Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
Czib |
A |
G |
4: 107,750,485 (GRCm39) |
|
probably benign |
Het |
Defb47 |
A |
T |
14: 63,238,359 (GRCm39) |
E28D |
probably benign |
Het |
Dnajc30 |
T |
A |
5: 135,093,413 (GRCm39) |
Y103* |
probably null |
Het |
Drap1 |
T |
C |
19: 5,473,028 (GRCm39) |
T160A |
probably benign |
Het |
Dsp |
A |
G |
13: 38,380,002 (GRCm39) |
E2249G |
possibly damaging |
Het |
E2f8 |
T |
A |
7: 48,520,825 (GRCm39) |
I499F |
probably benign |
Het |
Ebf1 |
T |
A |
11: 44,512,048 (GRCm39) |
Y116N |
probably damaging |
Het |
Ecrg4 |
C |
T |
1: 43,776,401 (GRCm39) |
R41* |
probably null |
Het |
Ect2 |
C |
A |
3: 27,169,614 (GRCm39) |
E746D |
probably benign |
Het |
Enpep |
T |
A |
3: 129,106,227 (GRCm39) |
Y333F |
probably damaging |
Het |
Fat4 |
T |
C |
3: 38,943,798 (GRCm39) |
V897A |
probably benign |
Het |
Gja3 |
T |
A |
14: 57,273,317 (GRCm39) |
S352C |
probably damaging |
Het |
Gpr153 |
C |
A |
4: 152,367,832 (GRCm39) |
P561Q |
probably benign |
Het |
Hlcs |
T |
C |
16: 93,935,571 (GRCm39) |
M574V |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,532,973 (GRCm39) |
V3070A |
probably benign |
Het |
Hsd3b2 |
G |
T |
3: 98,619,287 (GRCm39) |
N219K |
probably benign |
Het |
Htra3 |
T |
C |
5: 35,810,324 (GRCm39) |
I453V |
possibly damaging |
Het |
Klrc1 |
A |
T |
6: 129,651,898 (GRCm39) |
M220K |
possibly damaging |
Het |
Kntc1 |
T |
G |
5: 123,924,258 (GRCm39) |
I1048S |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,504,712 (GRCm39) |
S243G |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,326,674 (GRCm39) |
D2822V |
probably damaging |
Het |
Mcu |
T |
A |
10: 59,292,554 (GRCm39) |
I42F |
possibly damaging |
Het |
Mkln1 |
T |
A |
6: 31,466,307 (GRCm39) |
D521E |
probably damaging |
Het |
Ms4a13 |
T |
C |
19: 11,170,330 (GRCm39) |
N5D |
possibly damaging |
Het |
Msh3 |
T |
G |
13: 92,386,351 (GRCm39) |
N838T |
probably damaging |
Het |
Msl2 |
T |
A |
9: 100,978,290 (GRCm39) |
C221* |
probably null |
Het |
Ncapd2 |
A |
G |
6: 125,145,832 (GRCm39) |
S1310P |
probably benign |
Het |
Ncoa6 |
A |
T |
2: 155,257,785 (GRCm39) |
M586K |
probably damaging |
Het |
Ndel1 |
C |
T |
11: 68,713,397 (GRCm39) |
|
probably benign |
Het |
Ndst4 |
T |
C |
3: 125,355,068 (GRCm39) |
|
probably benign |
Het |
Nes |
T |
G |
3: 87,883,259 (GRCm39) |
V506G |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,339,372 (GRCm39) |
K200E |
probably damaging |
Het |
Nt5c1b |
A |
G |
12: 10,425,515 (GRCm39) |
K295E |
probably damaging |
Het |
Or4f54 |
G |
A |
2: 111,122,729 (GRCm39) |
V39M |
possibly damaging |
Het |
Or5b123 |
T |
A |
19: 13,596,517 (GRCm39) |
|
probably null |
Het |
Or6s1 |
T |
A |
14: 51,308,179 (GRCm39) |
I224L |
probably damaging |
Het |
Or8b4 |
C |
T |
9: 37,830,733 (GRCm39) |
T260I |
probably damaging |
Het |
Or8g51 |
G |
T |
9: 38,609,007 (GRCm39) |
Y218* |
probably null |
Het |
Or8k38 |
A |
T |
2: 86,488,394 (GRCm39) |
M136K |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pde1a |
A |
G |
2: 79,718,183 (GRCm39) |
|
probably null |
Het |
Pds5a |
A |
G |
5: 65,801,328 (GRCm39) |
|
probably benign |
Het |
Plbd1 |
A |
T |
6: 136,590,719 (GRCm39) |
|
probably benign |
Het |
Plod2 |
T |
A |
9: 92,473,450 (GRCm39) |
V292E |
probably benign |
Het |
Polg |
A |
G |
7: 79,103,819 (GRCm39) |
V879A |
possibly damaging |
Het |
Ppargc1a |
C |
T |
5: 51,631,253 (GRCm39) |
A459T |
probably damaging |
Het |
Prorp |
T |
A |
12: 55,351,659 (GRCm39) |
W323R |
probably damaging |
Het |
Psip1 |
T |
C |
4: 83,394,559 (GRCm39) |
E83G |
probably damaging |
Het |
Rhbdf1 |
T |
C |
11: 32,159,847 (GRCm39) |
D843G |
probably benign |
Het |
Rnpepl1 |
G |
T |
1: 92,845,434 (GRCm39) |
C451F |
probably damaging |
Het |
Rrp1 |
T |
C |
10: 78,241,249 (GRCm39) |
D206G |
probably damaging |
Het |
Setbp1 |
A |
T |
18: 78,798,703 (GRCm39) |
D1492E |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc16a6 |
C |
T |
11: 109,364,022 (GRCm39) |
|
probably benign |
Homo |
Slc7a6os |
A |
G |
8: 106,937,437 (GRCm39) |
S37P |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,495,102 (GRCm39) |
S1140T |
probably damaging |
Het |
Thoc6 |
C |
A |
17: 23,889,315 (GRCm39) |
R115L |
probably benign |
Het |
Tmem63c |
C |
T |
12: 87,121,946 (GRCm39) |
H385Y |
probably benign |
Het |
Trpm8 |
G |
T |
1: 88,279,137 (GRCm39) |
E649* |
probably null |
Het |
Usf1 |
A |
G |
1: 171,245,347 (GRCm39) |
E253G |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,801,545 (GRCm39) |
T443A |
probably benign |
Het |
Wdr86 |
T |
C |
5: 24,927,660 (GRCm39) |
Y93C |
probably damaging |
Het |
Zfp597 |
A |
T |
16: 3,683,685 (GRCm39) |
I357N |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,644,064 (GRCm39) |
I497V |
possibly damaging |
Het |
Zxdc |
T |
C |
6: 90,347,307 (GRCm39) |
S223P |
probably 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 |
|
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 |
|
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'- TTGTATGCCGCCAGCTAGAG -3'
(R):5'- CCCTGGAATCCTTACTGCAATG -3'
Sequencing Primer
(F):5'- CAGCTAGAGTGTGGCCAG -3'
(R):5'- TTACTGCAATGCCCCAGAGTG -3'
|
Posted On |
2017-02-28 |