Incidental Mutation 'R5848:Cdcp1'
ID |
453723 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdcp1
|
Ensembl Gene |
ENSMUSG00000035498 |
Gene Name |
CUB domain containing protein 1 |
Synonyms |
E030027H19Rik, 9030022E12Rik |
MMRRC Submission |
043225-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5848 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
122999889-123045103 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 123012770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 259
(H259L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039229]
|
AlphaFold |
Q5U462 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039229
AA Change: H259L
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000042057 Gene: ENSMUSG00000035498 AA Change: H259L
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
Aadacl4 |
T |
A |
4: 144,344,428 (GRCm39) |
M68K |
probably benign |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Ckap4 |
T |
C |
10: 84,369,354 (GRCm39) |
Q126R |
probably benign |
Het |
Clec18a |
C |
T |
8: 111,802,093 (GRCm39) |
V299I |
probably benign |
Het |
D7Ertd443e |
A |
G |
7: 133,951,451 (GRCm39) |
I27T |
possibly damaging |
Het |
Dlg2 |
T |
G |
7: 92,093,735 (GRCm39) |
D726E |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,947,165 (GRCm39) |
I1856T |
possibly damaging |
Het |
Espl1 |
G |
A |
15: 102,231,011 (GRCm39) |
V1837I |
probably benign |
Het |
Fanca |
G |
T |
8: 124,021,792 (GRCm39) |
|
probably benign |
Het |
Fer1l5 |
A |
G |
1: 36,428,016 (GRCm39) |
T437A |
probably benign |
Het |
Gm10644 |
C |
A |
8: 84,660,668 (GRCm39) |
|
probably benign |
Het |
Katnb1 |
A |
G |
8: 95,825,340 (GRCm39) |
S635G |
probably benign |
Het |
Map3k12 |
A |
G |
15: 102,412,670 (GRCm39) |
V234A |
possibly damaging |
Het |
Mks1 |
A |
G |
11: 87,747,696 (GRCm39) |
N193S |
probably benign |
Het |
Mmp11 |
T |
C |
10: 75,763,223 (GRCm39) |
E151G |
probably damaging |
Het |
Napg |
A |
G |
18: 63,127,440 (GRCm39) |
R265G |
possibly damaging |
Het |
Odad2 |
T |
A |
18: 7,268,507 (GRCm39) |
|
probably null |
Het |
Or5e1 |
T |
A |
7: 108,354,781 (GRCm39) |
C239* |
probably null |
Het |
Or6e1 |
A |
G |
14: 54,520,022 (GRCm39) |
F110S |
possibly damaging |
Het |
P3r3urf |
T |
C |
4: 116,030,812 (GRCm39) |
I72T |
probably damaging |
Het |
Pcdha7 |
G |
T |
18: 37,108,136 (GRCm39) |
C387F |
probably damaging |
Het |
Pcdhb3 |
G |
T |
18: 37,434,700 (GRCm39) |
R222L |
probably benign |
Het |
Phf2 |
A |
G |
13: 48,973,546 (GRCm39) |
M373T |
unknown |
Het |
Plekha7 |
T |
C |
7: 115,739,634 (GRCm39) |
T636A |
probably damaging |
Het |
Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
Rnf6 |
G |
A |
5: 146,147,959 (GRCm39) |
P353L |
probably benign |
Het |
Sel1l3 |
A |
C |
5: 53,342,150 (GRCm39) |
L357V |
possibly damaging |
Het |
Sh3rf3 |
T |
A |
10: 58,819,975 (GRCm39) |
M262K |
possibly damaging |
Het |
Sorcs3 |
A |
T |
19: 48,776,950 (GRCm39) |
H994L |
probably damaging |
Het |
Thsd7a |
A |
T |
6: 12,503,922 (GRCm39) |
C411S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,593,682 (GRCm39) |
K20653E |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,708,908 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,611,264 (GRCm39) |
W15677R |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,267,581 (GRCm39) |
M1049V |
possibly 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 |
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'- TTCATCCTGTGGACGTTGGAC -3'
(R):5'- ACAGGTATCAGCATCTCCTTTC -3'
Sequencing Primer
(F):5'- CGAAGGATTCCTGGGCTCTG -3'
(R):5'- AGGTATCAGCATCTCCTTTCTTTCTG -3'
|
Posted On |
2017-02-10 |