Incidental Mutation 'IGL03263:Cdcp1'
ID 414965
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL03263
Quality Score
Status
Chromosome 9
Chromosomal Location 122999889-123045103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 123009152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 509 (V509L)
Ref Sequence ENSEMBL: ENSMUSP00000042057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039229]
AlphaFold Q5U462
Predicted Effect probably benign
Transcript: ENSMUST00000039229
AA Change: V509L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: V509L

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T A 5: 138,562,499 (GRCm39) I81F probably damaging Het
Acacb C T 5: 114,351,754 (GRCm39) H1164Y probably damaging Het
Adamts5 A T 16: 85,666,830 (GRCm39) V554E probably damaging Het
Asns G A 6: 7,689,404 (GRCm39) R33C probably benign Het
BC051076 T G 5: 88,111,977 (GRCm39) noncoding transcript Het
Bcas3 C T 11: 85,712,948 (GRCm39) probably benign Het
Bpifb1 A G 2: 154,057,226 (GRCm39) M395V probably benign Het
Cdhr2 A G 13: 54,865,926 (GRCm39) T277A possibly damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clca4a T A 3: 144,672,192 (GRCm39) E250V probably damaging Het
Cplx4 T C 18: 66,100,559 (GRCm39) D79G probably benign Het
Dcaf11 A G 14: 55,802,949 (GRCm39) D246G probably damaging Het
Dnah2 A T 11: 69,420,207 (GRCm39) probably null Het
Dock3 A T 9: 106,807,330 (GRCm39) probably benign Het
Fam170a T C 18: 50,413,588 (GRCm39) probably benign Het
Fgfr2 T A 7: 129,782,149 (GRCm39) M423L probably benign Het
Gabra2 A G 5: 71,130,836 (GRCm39) F331L probably damaging Het
Galnt18 C T 7: 111,119,321 (GRCm39) R400Q probably damaging Het
H2-M11 A T 17: 36,859,805 (GRCm39) Q266L probably damaging Het
Igf2bp1 A T 11: 95,857,499 (GRCm39) V502D probably damaging Het
Ik A G 18: 36,881,699 (GRCm39) N111S probably damaging Het
Intu T A 3: 40,627,027 (GRCm39) Y269* probably null Het
Krt82 T C 15: 101,450,307 (GRCm39) Y463C probably benign Het
Lrig1 A G 6: 94,588,628 (GRCm39) M507T probably benign Het
Lrrc37 A G 11: 103,504,525 (GRCm39) V2481A possibly damaging Het
Mag T G 7: 30,598,953 (GRCm39) probably null Het
Map7 T A 10: 20,121,068 (GRCm39) Y121* probably null Het
Marchf6 A G 15: 31,486,508 (GRCm39) I349T probably benign Het
Mas1 A G 17: 13,060,451 (GRCm39) V324A possibly damaging Het
Nckap1l T C 15: 103,372,832 (GRCm39) W259R probably damaging Het
Nhsl1 T A 10: 18,373,827 (GRCm39) Y164* probably null Het
Or52e5 T A 7: 104,719,209 (GRCm39) H178Q probably damaging Het
Or8b38 A T 9: 37,973,009 (GRCm39) Y131F probably damaging Het
Pcdhb2 A G 18: 37,429,059 (GRCm39) D344G probably damaging Het
Pclo T C 5: 14,731,824 (GRCm39) V3442A unknown Het
Polr3c C T 3: 96,621,567 (GRCm39) probably benign Het
Ppp2r2d C T 7: 138,474,651 (GRCm39) R11* probably null Het
Ptgfr T A 3: 151,541,500 (GRCm39) M3L probably benign Het
Rfx6 A G 10: 51,601,903 (GRCm39) S741G probably benign Het
Rif1 T C 2: 51,980,273 (GRCm39) V490A probably damaging Het
Samd7 T A 3: 30,816,302 (GRCm39) H349Q probably damaging Het
Sh3pxd2a T C 19: 47,302,482 (GRCm39) N199S probably damaging Het
Spef2 T A 15: 9,667,305 (GRCm39) K794N possibly damaging Het
Spta1 C T 1: 174,041,484 (GRCm39) A1316V probably damaging Het
Vwa7 A G 17: 35,240,575 (GRCm39) E410G probably benign Het
Washc2 T A 6: 116,215,084 (GRCm39) probably benign Het
Wdr72 A C 9: 74,064,711 (GRCm39) Y581S probably damaging Het
Zdhhc17 T C 10: 110,796,877 (GRCm39) D298G probably damaging Het
Other mutations in Cdcp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-08-02