Incidental Mutation 'R7373:Cdcp1'
ID |
572226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdcp1
|
Ensembl Gene |
ENSMUSG00000035498 |
Gene Name |
CUB domain containing protein 1 |
Synonyms |
E030027H19Rik, 9030022E12Rik |
MMRRC Submission |
045456-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7373 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
122999889-123045103 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 123006965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 594
(R594H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039229]
|
AlphaFold |
Q5U462 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039229
AA Change: R594H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042057 Gene: ENSMUSG00000035498 AA Change: R594H
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (57/58) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
G |
A |
11: 50,686,262 (GRCm39) |
A1027T |
probably benign |
Het |
Aldh7a1 |
G |
A |
18: 56,675,389 (GRCm39) |
T260M |
possibly damaging |
Het |
Anks3 |
T |
C |
16: 4,773,735 (GRCm39) |
Y187C |
probably benign |
Het |
Atp2c2 |
A |
T |
8: 120,456,991 (GRCm39) |
I198F |
probably benign |
Het |
Bsn |
T |
C |
9: 107,990,683 (GRCm39) |
T1690A |
probably damaging |
Het |
Catsper3 |
T |
C |
13: 55,955,945 (GRCm39) |
I350T |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Cldn1 |
G |
T |
16: 26,179,606 (GRCm39) |
P154T |
probably damaging |
Het |
Cntnap5a |
A |
T |
1: 116,508,367 (GRCm39) |
N1293I |
probably benign |
Het |
Cpsf4l |
C |
T |
11: 113,590,657 (GRCm39) |
|
probably null |
Het |
Crybg1 |
T |
C |
10: 43,880,136 (GRCm39) |
T351A |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,042,713 (GRCm39) |
N2340S |
probably damaging |
Het |
Dennd4a |
C |
A |
9: 64,804,551 (GRCm39) |
Q1297K |
probably benign |
Het |
Dll3 |
A |
G |
7: 27,994,057 (GRCm39) |
V460A |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,986,939 (GRCm39) |
|
probably null |
Het |
Dst |
G |
T |
1: 34,227,472 (GRCm39) |
L1688F |
probably benign |
Het |
Ehmt1 |
A |
G |
2: 24,809,585 (GRCm39) |
M1T |
probably null |
Het |
Fasn |
A |
T |
11: 120,704,802 (GRCm39) |
L1261Q |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,479,702 (GRCm39) |
D2916G |
probably damaging |
Het |
Fgfr3 |
C |
A |
5: 33,885,034 (GRCm39) |
F49L |
probably benign |
Het |
Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
Hormad1 |
A |
T |
3: 95,483,628 (GRCm39) |
T147S |
probably damaging |
Het |
Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
Itgb8 |
A |
G |
12: 119,166,210 (GRCm39) |
V107A |
probably benign |
Het |
Kat2a |
C |
T |
11: 100,599,392 (GRCm39) |
A533T |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,913,071 (GRCm39) |
L328P |
probably damaging |
Het |
Lims1 |
T |
C |
10: 58,245,442 (GRCm39) |
F157S |
probably damaging |
Het |
Lrp2 |
G |
T |
2: 69,331,036 (GRCm39) |
H1673Q |
probably damaging |
Het |
Lrrc46 |
C |
A |
11: 96,929,706 (GRCm39) |
M43I |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,584,207 (GRCm39) |
|
probably null |
Het |
Meox2 |
A |
T |
12: 37,158,797 (GRCm39) |
|
probably benign |
Het |
Mff |
A |
G |
1: 82,714,838 (GRCm39) |
|
probably null |
Het |
Mfsd5 |
T |
A |
15: 102,189,427 (GRCm39) |
F266L |
probably damaging |
Het |
Miga2 |
A |
G |
2: 30,272,083 (GRCm39) |
T468A |
probably damaging |
Het |
Mmel1 |
T |
A |
4: 154,973,665 (GRCm39) |
L316Q |
not run |
Het |
Ndufa9 |
C |
A |
6: 126,811,421 (GRCm39) |
G232C |
probably damaging |
Het |
Obox2 |
A |
T |
7: 15,131,145 (GRCm39) |
K84* |
probably null |
Het |
Or4f58 |
T |
A |
2: 111,851,787 (GRCm39) |
R137S |
probably benign |
Het |
Or51a39 |
T |
A |
7: 102,363,306 (GRCm39) |
I105F |
possibly damaging |
Het |
Otogl |
G |
T |
10: 107,737,112 (GRCm39) |
Q101K |
probably damaging |
Het |
Pcnx2 |
C |
T |
8: 126,534,766 (GRCm39) |
V1288M |
probably damaging |
Het |
Pde10a |
T |
A |
17: 9,161,824 (GRCm39) |
W220R |
probably benign |
Het |
Recql5 |
T |
C |
11: 115,819,198 (GRCm39) |
T123A |
possibly damaging |
Het |
Rpl28 |
T |
C |
7: 4,796,602 (GRCm39) |
V61A |
probably benign |
Het |
Secisbp2l |
A |
T |
2: 125,599,191 (GRCm39) |
M494K |
probably damaging |
Het |
Sh3bgr |
G |
A |
16: 96,007,035 (GRCm39) |
E2K |
unknown |
Het |
Shcbp1l |
C |
A |
1: 153,300,986 (GRCm39) |
T6K |
probably benign |
Het |
Slc22a15 |
A |
C |
3: 101,785,213 (GRCm39) |
L353R |
possibly damaging |
Het |
Sqle |
T |
C |
15: 59,189,658 (GRCm39) |
I100T |
probably benign |
Het |
Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
Tll1 |
A |
T |
8: 64,504,391 (GRCm39) |
N668K |
probably damaging |
Het |
Tm7sf2 |
A |
G |
19: 6,116,676 (GRCm39) |
S118P |
probably benign |
Het |
Tmco5 |
G |
T |
2: 116,717,226 (GRCm39) |
V169L |
probably benign |
Het |
Trpv1 |
A |
G |
11: 73,131,499 (GRCm39) |
K346E |
probably damaging |
Het |
Ttk |
G |
A |
9: 83,736,930 (GRCm39) |
R463H |
probably benign |
Het |
Vmn2r120 |
G |
T |
17: 57,816,406 (GRCm39) |
L650I |
probably benign |
Het |
Vmn2r58 |
C |
T |
7: 41,487,212 (GRCm39) |
C561Y |
probably damaging |
Het |
Vmn2r-ps117 |
A |
T |
17: 19,044,948 (GRCm39) |
Q455L |
probably benign |
Het |
Zfr |
T |
A |
15: 12,140,645 (GRCm39) |
S231T |
unknown |
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 |
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'- TACAGTCCTCGGGGTAAGAG -3'
(R):5'- GTGATACAGCATTTGTCTGGATC -3'
Sequencing Primer
(F):5'- AGTCCTCGGGGTAAGAGTCACC -3'
(R):5'- GGATCTCTTCCATTTCCTGCAGAGG -3'
|
Posted On |
2019-09-13 |