Incidental Mutation 'R7674:Cdcp1'
| ID |
628293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdcp1
|
| Ensembl Gene |
ENSMUSG00000035498 |
| Gene Name |
CUB domain containing protein 1 |
| Synonyms |
E030027H19Rik, 9030022E12Rik |
| MMRRC Submission |
045744-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7674 (G1)
|
| Quality Score |
66.0074 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122999889-123045103 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to A
at 123045071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039229]
|
| AlphaFold |
Q5U462 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039229
|
| SMART Domains |
Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
56 |
267 |
1.33e-11 |
PROSPERO |
|
internal_repeat_1
|
374 |
591 |
1.33e-11 |
PROSPERO |
|
transmembrane domain
|
668 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
802 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent regulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,110,123 (GRCm39) |
I607F |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,848,899 (GRCm39) |
D559E |
probably damaging |
Het |
| Abl1 |
T |
C |
2: 31,579,841 (GRCm39) |
V8A |
possibly damaging |
Het |
| Alkal1 |
A |
T |
1: 6,459,712 (GRCm39) |
Y96F |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,031,435 (GRCm39) |
C352S |
possibly damaging |
Het |
| B4galnt3 |
G |
T |
6: 120,192,166 (GRCm39) |
D523E |
probably benign |
Het |
| Cadps |
C |
A |
14: 12,411,581 (GRCm38) |
E1258D |
probably damaging |
Het |
| Carmil2 |
A |
T |
8: 106,423,918 (GRCm39) |
Q1257L |
possibly damaging |
Het |
| Cars1 |
A |
G |
7: 143,140,840 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
T |
12: 100,911,491 (GRCm39) |
A781E |
probably benign |
Het |
| Ccr10 |
A |
T |
11: 101,065,475 (GRCm39) |
D18E |
probably benign |
Het |
| Ces5a |
C |
A |
8: 94,240,897 (GRCm39) |
R400L |
probably damaging |
Het |
| Clcn6 |
C |
T |
4: 148,097,151 (GRCm39) |
V636M |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,558,546 (GRCm39) |
L1206H |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,264,621 (GRCm39) |
N333K |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,535,098 (GRCm39) |
I2355L |
probably benign |
Het |
| Dok4 |
T |
C |
8: 95,593,190 (GRCm39) |
Y165C |
probably damaging |
Het |
| Dpy19l3 |
A |
C |
7: 35,394,734 (GRCm39) |
D601E |
probably damaging |
Het |
| Egr3 |
G |
A |
14: 70,315,526 (GRCm39) |
|
probably null |
Het |
| Elapor1 |
T |
G |
3: 108,370,307 (GRCm39) |
R698S |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,792,075 (GRCm39) |
Q231R |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,113,394 (GRCm39) |
K1432R |
probably benign |
Het |
| Fbxw8 |
A |
T |
5: 118,263,036 (GRCm39) |
C214* |
probably null |
Het |
| Gm45861 |
A |
C |
8: 28,030,147 (GRCm39) |
Y821S |
unknown |
Het |
| Gm5519 |
G |
C |
19: 33,802,428 (GRCm39) |
G157A |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,104,495 (GRCm39) |
S641P |
probably damaging |
Het |
| Ighv6-6 |
T |
A |
12: 114,398,837 (GRCm39) |
I10L |
probably benign |
Het |
| Jmy |
C |
T |
13: 93,579,107 (GRCm39) |
R675Q |
probably damaging |
Het |
| Kif14 |
C |
T |
1: 136,396,558 (GRCm39) |
T288I |
probably damaging |
Het |
| Kpna3 |
A |
T |
14: 61,605,086 (GRCm39) |
N520K |
probably benign |
Het |
| Lonp2 |
A |
T |
8: 87,392,386 (GRCm39) |
Q484L |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 42,542,921 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
A |
T |
19: 12,438,751 (GRCm39) |
M70L |
probably benign |
Het |
| Msh3 |
C |
A |
13: 92,349,011 (GRCm39) |
V1074L |
probably benign |
Het |
| Muc6 |
A |
T |
7: 141,224,247 (GRCm39) |
L1645Q |
unknown |
Het |
| Nipbl |
C |
T |
15: 8,322,585 (GRCm39) |
V2609I |
probably benign |
Het |
| Nucks1 |
C |
A |
1: 131,858,844 (GRCm39) |
T202N |
probably benign |
Het |
| Or10al3 |
A |
G |
17: 38,011,573 (GRCm39) |
N4S |
probably benign |
Het |
| Or4c127 |
A |
T |
2: 89,833,389 (GRCm39) |
Y213F |
probably damaging |
Het |
| Or4e2 |
A |
G |
14: 52,687,899 (GRCm39) |
T10A |
probably benign |
Het |
| Or5m12 |
A |
C |
2: 85,734,880 (GRCm39) |
F173V |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
| Plekha2 |
A |
G |
8: 25,547,314 (GRCm39) |
S257P |
probably damaging |
Het |
| Pnlip |
G |
C |
19: 58,663,586 (GRCm39) |
G187A |
possibly damaging |
Het |
| Pramel22 |
T |
A |
4: 143,382,175 (GRCm39) |
K174* |
probably null |
Het |
| Rasgrf2 |
C |
T |
13: 92,267,914 (GRCm39) |
S30N |
possibly damaging |
Het |
| Rho |
G |
T |
6: 115,909,294 (GRCm39) |
C110F |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
A |
G |
10: 22,569,893 (GRCm39) |
D528G |
probably damaging |
Het |
| Sorcs2 |
G |
A |
5: 36,555,296 (GRCm39) |
R32C |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Srp72 |
A |
T |
5: 77,122,673 (GRCm39) |
N35Y |
probably damaging |
Het |
| Tm2d2 |
C |
A |
8: 25,508,280 (GRCm39) |
Y141* |
probably null |
Het |
| Tor3a |
G |
A |
1: 156,483,478 (GRCm39) |
H315Y |
possibly damaging |
Het |
| Usp17la |
A |
T |
7: 104,510,654 (GRCm39) |
K420* |
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,016,321 (GRCm39) |
W262R |
probably benign |
Het |
| Yipf7 |
A |
T |
5: 69,676,572 (GRCm39) |
V189D |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,465,370 (GRCm39) |
M462L |
possibly damaging |
Het |
| Zc3h18 |
AGG |
AG |
8: 123,110,295 (GRCm39) |
|
probably null |
Het |
| Zfp930 |
A |
T |
8: 69,681,337 (GRCm39) |
H344L |
probably damaging |
Het |
|
| Other mutations in Cdcp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01757:Cdcp1
|
APN |
9 |
123,009,066 (GRCm39) |
nonsense |
probably null |
|
|
IGL01883:Cdcp1
|
APN |
9 |
123,012,663 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02029:Cdcp1
|
APN |
9 |
123,012,899 (GRCm39) |
splice site |
probably benign |
|
|
IGL02115:Cdcp1
|
APN |
9 |
123,014,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Cdcp1
|
APN |
9 |
123,002,702 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02709:Cdcp1
|
APN |
9 |
123,002,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Cdcp1
|
APN |
9 |
123,009,152 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03406:Cdcp1
|
APN |
9 |
123,014,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Cdcp1
|
UTSW |
9 |
123,009,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Cdcp1
|
UTSW |
9 |
123,009,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0939:Cdcp1
|
UTSW |
9 |
123,012,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1411:Cdcp1
|
UTSW |
9 |
123,019,177 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1460:Cdcp1
|
UTSW |
9 |
123,009,092 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1538:Cdcp1
|
UTSW |
9 |
123,002,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1660:Cdcp1
|
UTSW |
9 |
123,014,427 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1673:Cdcp1
|
UTSW |
9 |
123,007,086 (GRCm39) |
nonsense |
probably null |
|
|
R1794:Cdcp1
|
UTSW |
9 |
123,044,896 (GRCm39) |
missense |
probably benign |
|
|
R1794:Cdcp1
|
UTSW |
9 |
123,019,159 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2472:Cdcp1
|
UTSW |
9 |
123,014,172 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3961:Cdcp1
|
UTSW |
9 |
123,011,446 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3962:Cdcp1
|
UTSW |
9 |
123,011,446 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4288:Cdcp1
|
UTSW |
9 |
123,012,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4888:Cdcp1
|
UTSW |
9 |
123,011,194 (GRCm39) |
intron |
probably benign |
|
|
R4953:Cdcp1
|
UTSW |
9 |
123,009,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5236:Cdcp1
|
UTSW |
9 |
123,014,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5546:Cdcp1
|
UTSW |
9 |
123,007,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5848:Cdcp1
|
UTSW |
9 |
123,012,770 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5903:Cdcp1
|
UTSW |
9 |
123,002,837 (GRCm39) |
nonsense |
probably null |
|
|
R6052:Cdcp1
|
UTSW |
9 |
123,014,396 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6344:Cdcp1
|
UTSW |
9 |
123,011,447 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6904:Cdcp1
|
UTSW |
9 |
123,002,980 (GRCm39) |
missense |
probably benign |
|
|
R7038:Cdcp1
|
UTSW |
9 |
123,002,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Cdcp1
|
UTSW |
9 |
123,012,678 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7262:Cdcp1
|
UTSW |
9 |
123,002,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7275:Cdcp1
|
UTSW |
9 |
123,014,119 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7294:Cdcp1
|
UTSW |
9 |
123,006,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7373:Cdcp1
|
UTSW |
9 |
123,006,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Cdcp1
|
UTSW |
9 |
123,002,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7527:Cdcp1
|
UTSW |
9 |
123,014,172 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7680:Cdcp1
|
UTSW |
9 |
123,012,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Cdcp1
|
UTSW |
9 |
123,002,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Cdcp1
|
UTSW |
9 |
123,002,888 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8749:Cdcp1
|
UTSW |
9 |
123,019,027 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8770:Cdcp1
|
UTSW |
9 |
123,006,926 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8964:Cdcp1
|
UTSW |
9 |
123,012,561 (GRCm39) |
nonsense |
probably null |
|
|
R9241:Cdcp1
|
UTSW |
9 |
123,014,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9520:Cdcp1
|
UTSW |
9 |
123,012,736 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0028:Cdcp1
|
UTSW |
9 |
123,014,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTGTAACCCCTGAACAC -3'
(R):5'- CTTTGAGAAAGGAACTGAAGCCC -3'
Sequencing Primer
(F):5'- GGCCACAGGTTGCTCTTAC -3'
(R):5'- ACTGAAGCCCGGGAAGG -3'
|
| Posted On |
2020-02-24 |
Incidental Mutation