Incidental Mutation 'R5546:Cdcp1'
ID |
436295 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdcp1
|
Ensembl Gene |
ENSMUSG00000035498 |
Gene Name |
CUB domain containing protein 1 |
Synonyms |
E030027H19Rik, 9030022E12Rik |
MMRRC Submission |
043104-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5546 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
122999889-123045103 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 123007094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 551
(P551Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039229]
|
AlphaFold |
Q5U462 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039229
AA Change: P551Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042057 Gene: ENSMUSG00000035498 AA Change: P551Q
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148158
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
Validation Efficiency |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl11 |
A |
G |
9: 107,806,832 (GRCm39) |
N385S |
probably benign |
Het |
Ahctf1 |
A |
T |
1: 179,581,633 (GRCm39) |
I1523N |
probably benign |
Het |
Akna |
C |
T |
4: 63,313,196 (GRCm39) |
G309E |
probably benign |
Het |
Akna |
T |
C |
4: 63,313,803 (GRCm39) |
N107D |
probably benign |
Het |
Arhgef15 |
G |
A |
11: 68,844,877 (GRCm39) |
P240L |
probably benign |
Het |
Brd1 |
T |
A |
15: 88,585,325 (GRCm39) |
E836D |
probably benign |
Het |
Brf2 |
A |
G |
8: 27,614,311 (GRCm39) |
S292P |
possibly damaging |
Het |
C3 |
A |
G |
17: 57,529,976 (GRCm39) |
L500P |
probably damaging |
Het |
Cblif |
T |
C |
19: 11,725,859 (GRCm39) |
S50P |
possibly damaging |
Het |
Ccdc107 |
T |
C |
4: 43,495,685 (GRCm39) |
L196P |
probably damaging |
Het |
Ckap5 |
T |
C |
2: 91,425,161 (GRCm39) |
L1224P |
probably damaging |
Het |
Csnk1g2 |
C |
A |
10: 80,474,232 (GRCm39) |
T178K |
probably benign |
Het |
Ctsq |
A |
T |
13: 61,185,702 (GRCm39) |
C146* |
probably null |
Het |
Cyp2ab1 |
T |
A |
16: 20,132,507 (GRCm39) |
I264F |
probably damaging |
Het |
Daxx |
TGATGATGACGATGATGACGATGATGA |
TGATGATGACGATGATGA |
17: 34,131,615 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
G |
A |
12: 117,939,583 (GRCm39) |
T3179M |
possibly damaging |
Het |
Dnah7c |
A |
T |
1: 46,705,477 (GRCm39) |
T2497S |
probably damaging |
Het |
Eif4enif1 |
T |
C |
11: 3,193,989 (GRCm39) |
V776A |
probably damaging |
Het |
Erbb4 |
G |
T |
1: 68,337,452 (GRCm39) |
T622N |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,526,218 (GRCm39) |
Y595H |
probably benign |
Het |
Fam107a |
C |
T |
14: 8,298,764 (GRCm38) |
A121T |
probably benign |
Het |
Gpatch11 |
C |
T |
17: 79,149,548 (GRCm39) |
Q183* |
probably null |
Het |
Gpr161 |
C |
A |
1: 165,133,982 (GRCm39) |
F81L |
possibly damaging |
Het |
Hook1 |
G |
T |
4: 95,890,765 (GRCm39) |
E291D |
probably benign |
Het |
Hsf2bp |
T |
A |
17: 32,165,669 (GRCm39) |
I309F |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,275,485 (GRCm39) |
|
probably null |
Het |
Ide |
T |
G |
19: 37,249,623 (GRCm39) |
M910L |
unknown |
Het |
Igdcc4 |
A |
G |
9: 65,036,077 (GRCm39) |
Y712C |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,750,949 (GRCm39) |
|
probably benign |
Het |
Lats1 |
T |
C |
10: 7,581,518 (GRCm39) |
Y768H |
probably damaging |
Het |
Mageb3 |
A |
G |
2: 121,784,868 (GRCm39) |
V278A |
probably damaging |
Het |
Mapkbp1 |
G |
A |
2: 119,849,724 (GRCm39) |
R732H |
probably damaging |
Het |
Marveld2 |
T |
C |
13: 100,737,446 (GRCm39) |
I148V |
probably benign |
Het |
Mast1 |
G |
C |
8: 85,642,889 (GRCm39) |
P969A |
probably damaging |
Het |
Myh10 |
T |
G |
11: 68,689,206 (GRCm39) |
V1261G |
possibly damaging |
Het |
Nlrp1b |
A |
T |
11: 71,108,102 (GRCm39) |
H466Q |
probably benign |
Het |
Npr2 |
T |
G |
4: 43,650,150 (GRCm39) |
V905G |
probably damaging |
Het |
Oip5 |
T |
A |
2: 119,440,808 (GRCm39) |
I240F |
unknown |
Het |
Or4c12 |
A |
G |
2: 89,773,929 (GRCm39) |
C177R |
probably damaging |
Het |
Or5k8 |
G |
T |
16: 58,644,516 (GRCm39) |
Y185* |
probably null |
Het |
Or8b12 |
T |
A |
9: 37,657,820 (GRCm39) |
M130K |
probably benign |
Het |
Pcsk2 |
G |
A |
2: 143,388,480 (GRCm39) |
A24T |
probably benign |
Het |
Plxnb1 |
G |
T |
9: 108,929,818 (GRCm39) |
G225W |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,906,350 (GRCm39) |
S389P |
possibly damaging |
Het |
Prkca |
A |
G |
11: 107,944,806 (GRCm39) |
V175A |
probably benign |
Het |
Rassf7 |
C |
A |
7: 140,796,973 (GRCm39) |
|
probably null |
Het |
Rbl2 |
A |
G |
8: 91,805,560 (GRCm39) |
I206V |
probably benign |
Het |
Rnf111 |
A |
T |
9: 70,366,378 (GRCm39) |
H353Q |
probably benign |
Het |
Rpn1 |
T |
G |
6: 88,070,841 (GRCm39) |
V237G |
probably damaging |
Het |
Sec61a2 |
T |
A |
2: 5,881,351 (GRCm39) |
I267F |
possibly damaging |
Het |
Spop |
G |
T |
11: 95,376,669 (GRCm39) |
V241F |
probably damaging |
Het |
Sptbn2 |
C |
T |
19: 4,775,978 (GRCm39) |
A178V |
probably damaging |
Het |
Stard13 |
A |
G |
5: 150,969,366 (GRCm39) |
Y791H |
probably benign |
Het |
Susd2 |
T |
A |
10: 75,478,052 (GRCm39) |
I113L |
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,964,628 (GRCm39) |
E666G |
possibly damaging |
Het |
Tekt5 |
G |
T |
16: 10,179,254 (GRCm39) |
A371E |
possibly damaging |
Het |
Thap11 |
G |
A |
8: 106,582,548 (GRCm39) |
E186K |
probably damaging |
Het |
Tk2 |
A |
T |
8: 104,974,315 (GRCm39) |
D45E |
possibly damaging |
Het |
Tuba8 |
C |
A |
6: 121,199,872 (GRCm39) |
Y185* |
probably null |
Het |
Usp24 |
T |
A |
4: 106,273,244 (GRCm39) |
Y2210N |
probably damaging |
Het |
Wfdc8 |
A |
T |
2: 164,439,239 (GRCm39) |
|
probably benign |
Het |
Zar1l |
T |
C |
5: 150,436,365 (GRCm39) |
N237S |
probably damaging |
Het |
Zfp607b |
A |
T |
7: 27,402,032 (GRCm39) |
T163S |
probably benign |
Het |
Zfp619 |
C |
A |
7: 39,184,577 (GRCm39) |
H202Q |
probably benign |
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 |
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 |
R7674:Cdcp1
|
UTSW |
9 |
123,045,071 (GRCm39) |
start gained |
probably benign |
|
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'- TCATGAATGCACGCCCTGAC -3'
(R):5'- TACTTGGCACAGTGAGCACAC -3'
Sequencing Primer
(F):5'- TGACTGGCAGGCCAAGC -3'
(R):5'- GGTGCACATGAATATTGGCTACC -3'
|
Posted On |
2016-10-24 |