Incidental Mutation 'R7294:Cdcp1'
ID |
566627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdcp1
|
Ensembl Gene |
ENSMUSG00000035498 |
Gene Name |
CUB domain containing protein 1 |
Synonyms |
E030027H19Rik, 9030022E12Rik |
MMRRC Submission |
045399-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7294 (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 123006986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 587
(C587Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039229]
|
AlphaFold |
Q5U462 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039229
AA Change: C587Y
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000042057 Gene: ENSMUSG00000035498 AA Change: C587Y
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 |
94% (49/52) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,650,541 (GRCm39) |
Y1216* |
probably null |
Het |
Abca17 |
G |
A |
17: 24,539,983 (GRCm39) |
T415M |
not run |
Het |
Adam1a |
G |
T |
5: 121,658,068 (GRCm39) |
C408* |
probably null |
Het |
Adamts9 |
G |
A |
6: 92,871,270 (GRCm39) |
T603M |
probably damaging |
Het |
Amdhd1 |
T |
C |
10: 93,370,301 (GRCm39) |
E179G |
probably benign |
Het |
Bcan |
T |
C |
3: 87,902,831 (GRCm39) |
T316A |
possibly damaging |
Het |
Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
C5ar1 |
T |
C |
7: 15,982,950 (GRCm39) |
I23M |
probably benign |
Het |
Cd109 |
A |
T |
9: 78,619,917 (GRCm39) |
E1386D |
probably damaging |
Het |
Cdh22 |
A |
C |
2: 164,984,013 (GRCm39) |
V413G |
possibly damaging |
Het |
Cfap44 |
A |
G |
16: 44,225,256 (GRCm39) |
|
probably benign |
Het |
Col2a1 |
A |
G |
15: 97,885,168 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
T |
1: 90,756,005 (GRCm39) |
Y95N |
probably damaging |
Het |
Dusp13b |
A |
G |
14: 21,783,782 (GRCm39) |
S178P |
possibly damaging |
Het |
Fhod3 |
A |
G |
18: 25,266,037 (GRCm39) |
E1575G |
probably damaging |
Het |
Gfpt2 |
C |
T |
11: 49,709,435 (GRCm39) |
R209* |
probably null |
Het |
Heg1 |
T |
C |
16: 33,546,859 (GRCm39) |
S573P |
probably damaging |
Het |
Hinfp |
A |
G |
9: 44,210,567 (GRCm39) |
C152R |
probably damaging |
Het |
Hmgcs2 |
C |
T |
3: 98,198,211 (GRCm39) |
T38I |
probably benign |
Het |
Jakmip1 |
T |
C |
5: 37,274,804 (GRCm39) |
F441L |
possibly damaging |
Het |
Kcnj5 |
A |
C |
9: 32,234,045 (GRCm39) |
L90R |
probably damaging |
Het |
Kpna4 |
A |
C |
3: 68,999,956 (GRCm39) |
|
probably null |
Het |
Krt15 |
T |
A |
11: 100,022,848 (GRCm39) |
I456F |
possibly damaging |
Het |
Leprotl1 |
A |
T |
8: 34,606,006 (GRCm39) |
|
probably null |
Het |
Muc4 |
A |
T |
16: 32,576,835 (GRCm39) |
T42S |
possibly damaging |
Het |
Naa80 |
T |
G |
9: 107,460,182 (GRCm39) |
F26V |
possibly damaging |
Het |
Nr1h5 |
T |
C |
3: 102,852,578 (GRCm39) |
T419A |
probably benign |
Het |
Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
Or4c12 |
A |
C |
2: 89,774,068 (GRCm39) |
Y130* |
probably null |
Het |
Or52b3 |
T |
A |
7: 102,204,160 (GRCm39) |
I223N |
probably damaging |
Het |
Pax6 |
T |
A |
2: 105,515,246 (GRCm39) |
C66* |
probably null |
Het |
Pde10a |
A |
T |
17: 8,975,853 (GRCm39) |
N53Y |
probably benign |
Het |
Pdgfra |
A |
G |
5: 75,342,312 (GRCm39) |
N711S |
probably benign |
Het |
Rimkla |
A |
T |
4: 119,325,663 (GRCm39) |
S249T |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
Scn3a |
A |
G |
2: 65,302,685 (GRCm39) |
S1254P |
probably damaging |
Het |
Slc26a1 |
G |
T |
5: 108,821,698 (GRCm39) |
R80S |
possibly damaging |
Het |
Slc2a4 |
T |
C |
11: 69,836,225 (GRCm39) |
D262G |
probably benign |
Het |
Specc1 |
T |
A |
11: 62,009,163 (GRCm39) |
S226R |
probably benign |
Het |
Srsf4 |
A |
G |
4: 131,627,772 (GRCm39) |
S289G |
unknown |
Het |
Stil |
T |
C |
4: 114,864,480 (GRCm39) |
V127A |
probably benign |
Het |
Syne1 |
A |
T |
10: 5,047,483 (GRCm39) |
|
probably null |
Het |
Tbc1d22a |
T |
A |
15: 86,196,036 (GRCm39) |
Y336N |
possibly damaging |
Het |
Tbc1d8 |
C |
T |
1: 39,445,843 (GRCm39) |
G116E |
probably damaging |
Het |
Thrb |
A |
G |
14: 17,826,963 (GRCm38) |
|
probably benign |
Het |
Timd5 |
T |
A |
11: 46,426,439 (GRCm39) |
I182K |
probably benign |
Het |
Tln1 |
G |
T |
4: 43,534,399 (GRCm39) |
H2253Q |
probably benign |
Het |
Tmem131 |
A |
C |
1: 36,893,928 (GRCm39) |
N158K |
possibly damaging |
Het |
Toporsl |
A |
C |
4: 52,611,903 (GRCm39) |
T599P |
probably benign |
Het |
Tpr |
C |
T |
1: 150,279,638 (GRCm39) |
R256C |
probably damaging |
Het |
Triobp |
C |
T |
15: 78,858,176 (GRCm39) |
A1259V |
probably damaging |
Het |
Zfp40 |
A |
G |
17: 23,395,411 (GRCm39) |
I392T |
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 |
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 |
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'- TCATGGGGCTGCAATTGGAG -3'
(R):5'- GTAGACTATTCAGTATCCCTTACACTC -3'
Sequencing Primer
(F):5'- GCTGCAATTGGAGATGTTAACCC -3'
(R):5'- CTCTCCATTTTATTGAGTGATACAGC -3'
|
Posted On |
2019-06-26 |