Incidental Mutation 'R2472:Cdcp1'
| ID |
253171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdcp1
|
| Ensembl Gene |
ENSMUSG00000035498 |
| Gene Name |
CUB domain containing protein 1 |
| Synonyms |
E030027H19Rik, 9030022E12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2472 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122999889-123045103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123014172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 201
(F201L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039229]
|
| AlphaFold |
Q5U462 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039229
AA Change: F201L
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: F201L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,583,316 (GRCm39) |
S291P |
probably damaging |
Het |
| Cbln3 |
T |
C |
14: 56,121,538 (GRCm39) |
E36G |
possibly damaging |
Het |
| Crispld1 |
A |
T |
1: 17,816,052 (GRCm39) |
R142S |
probably null |
Het |
| Dsc2 |
T |
A |
18: 20,178,526 (GRCm39) |
M293L |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,774,150 (GRCm39) |
S362T |
possibly damaging |
Het |
| Grm4 |
C |
T |
17: 27,653,649 (GRCm39) |
C512Y |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| L1td1 |
C |
T |
4: 98,621,396 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,058,632 (GRCm39) |
T252A |
probably benign |
Het |
| Neu3 |
A |
C |
7: 99,462,614 (GRCm39) |
S370A |
probably damaging |
Het |
| Nfasc |
T |
A |
1: 132,515,959 (GRCm39) |
|
probably benign |
Het |
| Or2o1 |
T |
C |
11: 49,051,198 (GRCm39) |
V119A |
possibly damaging |
Het |
| Ptk7 |
T |
C |
17: 46,887,774 (GRCm39) |
T553A |
probably benign |
Het |
| Rap2a |
T |
C |
14: 120,716,245 (GRCm39) |
I36T |
possibly damaging |
Het |
| Rinl |
A |
C |
7: 28,489,803 (GRCm39) |
D7A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec16a |
T |
C |
2: 26,329,948 (GRCm39) |
E689G |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,064 (GRCm39) |
I560M |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Setdb2 |
G |
A |
14: 59,656,903 (GRCm39) |
T138I |
possibly damaging |
Het |
| Sgsh |
G |
T |
11: 119,246,300 (GRCm39) |
P4Q |
possibly damaging |
Het |
| Slco4a1 |
G |
T |
2: 180,108,880 (GRCm39) |
W308L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,611,863 (GRCm39) |
R17346S |
possibly damaging |
Het |
| Ubxn4 |
A |
G |
1: 128,200,606 (GRCm39) |
R366G |
probably damaging |
Het |
| Vmn2r90 |
T |
G |
17: 17,948,408 (GRCm39) |
N551K |
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 |
|
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 |
|
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'- GTACAACCAAACCTATATCTCTGCTTT -3'
(R):5'- TCGACTGAGGCAGATTGGAC -3'
Sequencing Primer
(F):5'- TTTAATCCTAGCACTCAGGAGGCAG -3'
(R):5'- GCAGATTGGACCAGGCG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation