Incidental Mutation 'R3961:Cdcp1'
| ID |
312090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdcp1
|
| Ensembl Gene |
ENSMUSG00000035498 |
| Gene Name |
CUB domain containing protein 1 |
| Synonyms |
E030027H19Rik, 9030022E12Rik |
| MMRRC Submission |
040836-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3961 (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 C
at 123011446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 344
(T344A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039229]
|
| AlphaFold |
Q5U462 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039229
AA Change: T344A
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: T344A
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Bicral |
T |
C |
17: 47,135,751 (GRCm39) |
I486M |
probably damaging |
Het |
| Btbd1 |
C |
A |
7: 81,468,083 (GRCm39) |
E146* |
probably null |
Het |
| Cenpm |
A |
T |
15: 82,118,574 (GRCm39) |
L180Q |
possibly damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Dazl |
A |
G |
17: 50,595,161 (GRCm39) |
V91A |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,184,284 (GRCm39) |
V35I |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,825,244 (GRCm39) |
|
probably null |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,252,613 (GRCm39) |
M419K |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,562,950 (GRCm39) |
T436M |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,880,241 (GRCm39) |
E88* |
probably null |
Het |
| Or5ak23 |
T |
C |
2: 85,245,216 (GRCm39) |
I2M |
possibly damaging |
Het |
| Pdcl |
T |
C |
2: 37,242,199 (GRCm39) |
M184V |
probably benign |
Het |
| Polr3b |
T |
C |
10: 84,520,166 (GRCm39) |
M694T |
possibly damaging |
Het |
| Pramel12 |
T |
A |
4: 143,145,888 (GRCm39) |
N452K |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,647,475 (GRCm39) |
|
probably null |
Het |
| Prss35 |
A |
G |
9: 86,637,802 (GRCm39) |
M191V |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Taf7 |
A |
G |
18: 37,776,174 (GRCm39) |
V131A |
probably benign |
Het |
| Tesk1 |
A |
G |
4: 43,445,133 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
C |
T |
1: 36,858,031 (GRCm39) |
D741N |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Tpte |
A |
G |
8: 22,849,431 (GRCm39) |
S553G |
probably damaging |
Het |
| Trpv3 |
A |
T |
11: 73,178,246 (GRCm39) |
K438* |
probably null |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,717 (GRCm39) |
G757R |
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 |
|
R2472:Cdcp1
|
UTSW |
9 |
123,014,172 (GRCm39) |
missense |
probably benign |
0.07 |
|
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'- CATCGCACAGGAAGGAAATCTTG -3'
(R):5'- ACTCAGAGCTTCACAGGAGAAG -3'
Sequencing Primer
(F):5'- AAATCTTGTGTATGGAGCCAGC -3'
(R):5'- CATAGGAAGTTCTGAGAAAGTGTGTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation