Incidental Mutation 'R4418:Cdcp3'
| ID |
326933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdcp3
|
| Ensembl Gene |
ENSMUSG00000006204 |
| Gene Name |
CUB domain containing protein 3 |
| Synonyms |
5430419D17Rik |
| MMRRC Submission |
041139-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4418 (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 130849194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 899
(D899V)
|
| 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 benign
Transcript: ENSMUST00000050586
AA Change: D783V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: D783V
| 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 |
possibly damaging
Transcript: ENSMUST00000208921
AA Change: D899V
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
95% (72/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
G |
1: 159,872,372 (GRCm39) |
|
noncoding transcript |
Het |
| Acot12 |
A |
G |
13: 91,932,524 (GRCm39) |
T507A |
possibly damaging |
Het |
| Agap2 |
T |
G |
10: 126,927,519 (GRCm39) |
C1113W |
probably damaging |
Het |
| Ap3s1-ps2 |
A |
T |
8: 95,131,921 (GRCm39) |
|
noncoding transcript |
Het |
| B3gnt3 |
T |
C |
8: 72,146,413 (GRCm39) |
R39G |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Chad |
C |
T |
11: 94,458,663 (GRCm39) |
H271Y |
possibly damaging |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Col6a1 |
T |
A |
10: 76,554,239 (GRCm39) |
K323* |
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,453,972 (GRCm39) |
F285S |
possibly damaging |
Het |
| Dctn2 |
T |
G |
10: 127,114,234 (GRCm39) |
M360R |
probably benign |
Het |
| Dele1 |
T |
C |
18: 38,394,340 (GRCm39) |
|
probably null |
Het |
| Dgka |
A |
T |
10: 128,563,963 (GRCm39) |
L462Q |
probably damaging |
Het |
| Drg2 |
A |
C |
11: 60,358,972 (GRCm39) |
K364T |
probably damaging |
Het |
| Dync1li1 |
T |
A |
9: 114,535,238 (GRCm39) |
S167R |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,956,799 (GRCm39) |
T365A |
probably benign |
Het |
| Fer |
A |
T |
17: 64,336,286 (GRCm39) |
D554V |
possibly damaging |
Het |
| Fignl2 |
A |
G |
15: 100,951,830 (GRCm39) |
S151P |
possibly damaging |
Het |
| Gbgt1 |
A |
G |
2: 28,388,420 (GRCm39) |
Y35C |
probably damaging |
Het |
| Gm6526 |
T |
A |
14: 43,986,302 (GRCm39) |
I79K |
probably damaging |
Het |
| Gpr6 |
T |
G |
10: 40,946,604 (GRCm39) |
N326T |
probably damaging |
Het |
| H2bc4 |
C |
T |
13: 23,868,486 (GRCm39) |
T91M |
probably damaging |
Het |
| Hcn4 |
C |
T |
9: 58,751,178 (GRCm39) |
T268M |
probably benign |
Het |
| Hnf4g |
A |
G |
3: 3,713,154 (GRCm39) |
M243V |
possibly damaging |
Het |
| Homer1 |
A |
G |
13: 93,538,577 (GRCm39) |
E314G |
probably damaging |
Het |
| Hs6st1 |
T |
C |
1: 36,143,108 (GRCm39) |
Y348H |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 140,595,984 (GRCm39) |
I103N |
probably damaging |
Het |
| Ipo5 |
T |
G |
14: 121,181,305 (GRCm39) |
C944G |
possibly damaging |
Het |
| Kcnb1 |
C |
A |
2: 166,947,595 (GRCm39) |
E418* |
probably null |
Het |
| Kcnk2 |
G |
A |
1: 188,988,924 (GRCm39) |
R207C |
probably damaging |
Het |
| Kctd8 |
T |
C |
5: 69,498,505 (GRCm39) |
E47G |
probably damaging |
Het |
| Klhdc2 |
C |
T |
12: 69,354,371 (GRCm39) |
|
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,509,140 (GRCm39) |
|
probably benign |
Het |
| Mgat1 |
A |
G |
11: 49,152,072 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mmp25 |
T |
A |
17: 23,863,044 (GRCm39) |
R122S |
probably damaging |
Het |
| Mrpl39 |
C |
A |
16: 84,522,012 (GRCm39) |
|
probably null |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,559,898 (GRCm39) |
F1007S |
probably damaging |
Het |
| Neto1 |
T |
C |
18: 86,422,981 (GRCm39) |
M146T |
probably benign |
Het |
| Opn1sw |
G |
A |
6: 29,379,423 (GRCm39) |
R45* |
probably null |
Het |
| Osbpl5 |
A |
T |
7: 143,263,552 (GRCm39) |
C98* |
probably null |
Het |
| Pacc1 |
T |
A |
1: 191,080,629 (GRCm39) |
V283E |
probably damaging |
Het |
| Pcdhb7 |
C |
T |
18: 37,476,535 (GRCm39) |
A557V |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,586,748 (GRCm39) |
F155L |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pmfbp1 |
C |
A |
8: 110,257,265 (GRCm39) |
Q609K |
probably benign |
Het |
| Pnpo |
A |
T |
11: 96,831,795 (GRCm39) |
|
probably null |
Het |
| Ppp2cb |
G |
A |
8: 34,107,077 (GRCm39) |
R254Q |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,619,766 (GRCm39) |
S349T |
probably damaging |
Het |
| Rnf167 |
T |
A |
11: 70,538,743 (GRCm39) |
W17R |
probably damaging |
Het |
| Rpl21-ps4 |
A |
G |
14: 11,227,879 (GRCm38) |
|
noncoding transcript |
Het |
| Rxfp2 |
A |
T |
5: 149,972,265 (GRCm39) |
H158L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,661,569 (GRCm39) |
C1807Y |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,745,464 (GRCm39) |
E601D |
probably damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,594,835 (GRCm39) |
C542S |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,832,514 (GRCm39) |
V393A |
possibly damaging |
Het |
| Stil |
A |
G |
4: 114,866,574 (GRCm39) |
N176S |
probably benign |
Het |
| Tap1 |
T |
A |
17: 34,407,353 (GRCm39) |
|
probably null |
Het |
| Tcl1b3 |
A |
T |
12: 105,159,844 (GRCm39) |
Q105L |
probably damaging |
Het |
| Trappc10 |
G |
T |
10: 78,053,022 (GRCm39) |
A251D |
probably damaging |
Het |
| Trim43a |
G |
T |
9: 88,464,206 (GRCm39) |
C39F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,719,825 (GRCm39) |
|
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,803,951 (GRCm39) |
L208* |
probably null |
Het |
| Vmn2r88 |
G |
T |
14: 51,655,538 (GRCm39) |
L583F |
probably damaging |
Het |
| Wasf1 |
C |
T |
10: 40,812,578 (GRCm39) |
H456Y |
unknown |
Het |
| Zfp120 |
A |
G |
2: 149,960,105 (GRCm39) |
I73T |
possibly damaging |
Het |
| Zfp990 |
T |
C |
4: 145,263,298 (GRCm39) |
C99R |
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 |
|
|
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 |
|
|
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'- GGCAACACTCCTTTAGCAAGAAAG -3'
(R):5'- TATTCCTGGCAACTAGGGGTGG -3'
Sequencing Primer
(F):5'- GAAATACAGAGTACAACTGGCTTG -3'
(R):5'- GTTCTGGAGGTTCTAATGCAACCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation