Incidental Mutation 'R7879:Cdcp3'
| ID |
608640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdcp3
|
| Ensembl Gene |
ENSMUSG00000006204 |
| Gene Name |
CUB domain containing protein 3 |
| Synonyms |
5430419D17Rik |
| MMRRC Submission |
045931-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7879 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
130776131-130908180 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130844871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 588
(V588E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061529
(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: V588E
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: V588E
| 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 damaging
Transcript: ENSMUST00000208921
AA Change: V704E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
C |
5: 146,439,662 (GRCm39) |
I81T |
probably benign |
Het |
| Acnat2 |
G |
A |
4: 49,383,299 (GRCm39) |
P85S |
probably damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,286,223 (GRCm39) |
V74M |
probably damaging |
Het |
| Alb |
C |
A |
5: 90,620,507 (GRCm39) |
T539K |
probably benign |
Het |
| B4galnt2 |
G |
A |
11: 95,760,223 (GRCm39) |
T268I |
possibly damaging |
Het |
| Bcl7b |
G |
A |
5: 135,205,986 (GRCm39) |
E58K |
possibly damaging |
Het |
| Calr3 |
C |
T |
8: 73,178,487 (GRCm39) |
S372N |
unknown |
Het |
| Cdh20 |
A |
T |
1: 104,875,047 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
A |
C |
1: 109,976,677 (GRCm39) |
E114A |
probably benign |
Het |
| Cep70 |
A |
G |
9: 99,144,686 (GRCm39) |
R74G |
possibly damaging |
Het |
| Chrna6 |
A |
G |
8: 27,897,109 (GRCm39) |
F256S |
probably damaging |
Het |
| Cic |
A |
G |
7: 24,984,551 (GRCm39) |
T996A |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,351,817 (GRCm39) |
V536A |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,441,820 (GRCm39) |
M348K |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 118,004,744 (GRCm39) |
D2192E |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,352,646 (GRCm39) |
I2600V |
probably benign |
Het |
| Dock3 |
A |
C |
9: 106,785,700 (GRCm39) |
S185A |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,780,083 (GRCm39) |
D628V |
possibly damaging |
Het |
| Dzank1 |
A |
T |
2: 144,333,718 (GRCm39) |
S371T |
probably benign |
Het |
| Fam83b |
A |
T |
9: 76,399,737 (GRCm39) |
N455K |
possibly damaging |
Het |
| Fcrlb |
T |
C |
1: 170,736,365 (GRCm39) |
Y137C |
probably damaging |
Het |
| Gtf2i |
G |
A |
5: 134,295,471 (GRCm39) |
T327M |
possibly damaging |
Het |
| Hspa5 |
T |
A |
2: 34,665,941 (GRCm39) |
M595K |
probably benign |
Het |
| Htt |
C |
T |
5: 34,981,252 (GRCm39) |
A875V |
probably benign |
Het |
| Hvcn1 |
G |
A |
5: 122,376,701 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
G |
3: 59,238,145 (GRCm39) |
S679P |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,751,265 (GRCm39) |
H1285R |
probably benign |
Het |
| Kcnq4 |
T |
C |
4: 120,559,632 (GRCm39) |
T523A |
probably benign |
Het |
| Kif6 |
T |
A |
17: 50,139,214 (GRCm39) |
I562N |
probably benign |
Het |
| Klhl9 |
C |
A |
4: 88,638,575 (GRCm39) |
W555C |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,624 (GRCm39) |
T423A |
probably benign |
Het |
| Mapk10 |
C |
T |
5: 103,111,362 (GRCm39) |
V391I |
probably benign |
Het |
| Noa1 |
T |
C |
5: 77,445,044 (GRCm39) |
M592V |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,133,968 (GRCm39) |
M275T |
possibly damaging |
Het |
| Nuak2 |
T |
A |
1: 132,259,695 (GRCm39) |
V499E |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,185 (GRCm39) |
C252* |
probably null |
Het |
| Or6c213 |
T |
C |
10: 129,574,559 (GRCm39) |
I76V |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,612,970 (GRCm39) |
E2052G |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,198,670 (GRCm39) |
C253S |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,727,228 (GRCm39) |
S2029P |
unknown |
Het |
| Plekhg3 |
A |
G |
12: 76,612,343 (GRCm39) |
I401M |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,100,392 (GRCm39) |
C1140S |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,962,817 (GRCm39) |
L62H |
probably damaging |
Het |
| Psmf1 |
T |
A |
2: 151,576,163 (GRCm39) |
E115V |
probably benign |
Het |
| Ptpn9 |
A |
T |
9: 56,964,010 (GRCm39) |
N381I |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,465,979 (GRCm39) |
S1234P |
probably benign |
Het |
| Qrich1 |
A |
G |
9: 108,436,485 (GRCm39) |
T728A |
possibly damaging |
Het |
| Ralgps2 |
C |
A |
1: 156,656,636 (GRCm39) |
A323S |
probably benign |
Het |
| Rimbp3 |
T |
C |
16: 17,028,910 (GRCm39) |
V778A |
possibly damaging |
Het |
| Scn1a |
A |
T |
2: 66,116,349 (GRCm39) |
L430* |
probably null |
Het |
| Sema7a |
A |
T |
9: 57,862,363 (GRCm39) |
I189F |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,571,386 (GRCm39) |
I39T |
probably benign |
Het |
| Stap2 |
T |
C |
17: 56,309,023 (GRCm39) |
T115A |
probably benign |
Het |
| Stmn4 |
A |
G |
14: 66,595,388 (GRCm39) |
I138V |
probably benign |
Het |
| Suds3 |
C |
T |
5: 117,236,335 (GRCm39) |
|
probably null |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tet1 |
A |
C |
10: 62,714,825 (GRCm39) |
D323E |
probably benign |
Het |
| Tia1 |
A |
G |
6: 86,401,347 (GRCm39) |
D140G |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,852,010 (GRCm39) |
R827H |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,625,397 (GRCm39) |
|
probably null |
Het |
| Unc80 |
T |
C |
1: 66,549,866 (GRCm39) |
V708A |
probably benign |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,772 (GRCm39) |
T130S |
probably benign |
Het |
| Wfikkn2 |
A |
G |
11: 94,129,755 (GRCm39) |
C129R |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
|
|
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 |
|
|
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'- TGTTAACTGAGAGGTGGTCCC -3'
(R):5'- AGCTAGAAGAGAACTATTAGGTACTGC -3'
Sequencing Primer
(F):5'- AGAGGTGGTCCCAGTCATG -3'
(R):5'- TCAGACTTGAATTTGGAAATGCTCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation