Incidental Mutation 'IGL02516:Cdcp1'
ID296795
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdcp1
Ensembl Gene ENSMUSG00000035498
Gene NameCUB domain containing protein 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02516
Quality Score
Status
Chromosome9
Chromosomal Location123170824-123216038 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 123173637 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Methionine at position 790 (L790M)
Ref Sequence ENSEMBL: ENSMUSP00000042057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039229]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039229
AA Change: L790M

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: L790M

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: 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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 C T 8: 24,898,596 S364N probably damaging Het
AI314180 T C 4: 58,877,102 E111G probably damaging Het
Ano8 C T 8: 71,485,077 G47D probably damaging Het
App T C 16: 84,955,417 T743A probably damaging Het
Armc3 A G 2: 19,300,506 K692E possibly damaging Het
Arpp21 T C 9: 112,185,661 N25S probably damaging Het
Avpr1b G A 1: 131,600,629 V297I probably damaging Het
Bpi A G 2: 158,267,731 I200V possibly damaging Het
Cacna2d4 C T 6: 119,271,870 probably benign Het
Cbarp A G 10: 80,135,545 Y149H probably damaging Het
Ccdc85c T C 12: 108,274,901 N78S unknown Het
Cdkn2d T A 9: 21,289,143 I111F probably benign Het
Ctsr A G 13: 61,163,178 V18A probably benign Het
Dapk1 A G 13: 60,696,347 D60G probably damaging Het
Daw1 A C 1: 83,209,228 N253T probably benign Het
Dcaf7 T A 11: 106,051,872 I215N probably damaging Het
Ddc A C 11: 11,829,125 L333R probably damaging Het
Dennd1a A G 2: 37,852,394 probably null Het
Dnah10 C A 5: 124,787,331 T2200K probably damaging Het
Dock6 T C 9: 21,802,585 Y1883C probably damaging Het
Eif2ak4 T A 2: 118,436,254 I752N probably damaging Het
Fcho2 A G 13: 98,730,212 I740T probably benign Het
Flnc A G 6: 29,450,841 D1496G probably damaging Het
Fn1 A G 1: 71,637,323 V583A possibly damaging Het
Grasp G A 15: 101,229,051 V137I probably damaging Het
Greb1l A C 18: 10,537,064 T1010P probably benign Het
Hs3st6 T C 17: 24,758,131 L195P probably damaging Het
Hyi A G 4: 118,362,483 E239G probably damaging Het
Ighv2-3 G T 12: 113,611,198 Y112* probably null Het
Ints3 A G 3: 90,403,108 F495S probably damaging Het
Itih2 T A 2: 10,097,917 H802L probably benign Het
Jag2 C T 12: 112,910,566 V990M probably damaging Het
Kat6b T C 14: 21,609,868 probably benign Het
Krtap4-8 C T 11: 99,780,342 probably benign Het
Lhx4 A G 1: 155,702,257 S380P probably damaging Het
Morn3 C A 5: 123,037,300 E33* probably null Het
Mug2 C T 6: 122,070,843 A771V probably damaging Het
N4bp3 A T 11: 51,644,334 S343T probably benign Het
Nlrp1a T C 11: 71,114,460 N643S probably damaging Het
Olfr15 A C 16: 3,839,336 D121A probably damaging Het
Olfr767 T A 10: 129,079,793 M57L possibly damaging Het
Olfr93 T A 17: 37,151,272 R79S possibly damaging Het
Phc3 A G 3: 30,948,793 F192S probably damaging Het
Pigq C T 17: 25,937,247 R69H probably benign Het
Plk3 A G 4: 117,131,989 C222R probably damaging Het
Pomt2 T C 12: 87,119,646 T490A probably benign Het
Prss29 T C 17: 25,320,901 I91T probably damaging Het
Ralgapb A T 2: 158,465,815 probably benign Het
Sccpdh G A 1: 179,681,691 G75D probably damaging Het
Serpine2 T C 1: 79,794,997 probably benign Het
Sfr1 T G 19: 47,732,990 probably null Het
Slc22a23 C A 13: 34,203,955 C386F probably benign Het
Slc22a27 T C 19: 7,864,811 K433R probably damaging Het
Slc39a12 T C 2: 14,400,335 L246P probably damaging Het
Slc4a11 A G 2: 130,691,393 I191T possibly damaging Het
Slc9c1 A G 16: 45,577,875 N668D probably damaging Het
Supt16 A T 14: 52,183,964 D41E possibly damaging Het
Ugt2b37 A G 5: 87,240,882 S491P probably damaging Het
Urb1 G T 16: 90,772,695 T1381N possibly damaging Het
Usp8 A G 2: 126,742,174 I423M probably benign Het
Vmn1r191 T A 13: 22,179,540 I15F probably benign Het
Zbtb5 A T 4: 44,993,798 Y529N probably damaging Het
Zfp541 T A 7: 16,082,993 probably null Het
Other mutations in Cdcp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01757:Cdcp1 APN 9 123180001 nonsense probably null
IGL01883:Cdcp1 APN 9 123183598 missense probably benign 0.18
IGL02029:Cdcp1 APN 9 123183834 splice site probably benign
IGL02115:Cdcp1 APN 9 123185397 missense probably damaging 1.00
IGL02709:Cdcp1 APN 9 123173814 missense probably damaging 1.00
IGL03263:Cdcp1 APN 9 123180087 missense probably benign 0.12
IGL03406:Cdcp1 APN 9 123185313 missense probably benign 0.00
R0242:Cdcp1 UTSW 9 123180172 missense probably benign 0.00
R0242:Cdcp1 UTSW 9 123180172 missense probably benign 0.00
R0939:Cdcp1 UTSW 9 123183690 missense probably damaging 1.00
R1411:Cdcp1 UTSW 9 123190112 missense probably damaging 0.99
R1460:Cdcp1 UTSW 9 123180027 missense possibly damaging 0.69
R1538:Cdcp1 UTSW 9 123173588 missense probably damaging 1.00
R1660:Cdcp1 UTSW 9 123185362 missense probably benign 0.09
R1673:Cdcp1 UTSW 9 123178021 nonsense probably null
R1794:Cdcp1 UTSW 9 123190094 missense probably benign 0.37
R1794:Cdcp1 UTSW 9 123215831 missense probably benign
R2472:Cdcp1 UTSW 9 123185107 missense probably benign 0.07
R3961:Cdcp1 UTSW 9 123182381 missense possibly damaging 0.73
R3962:Cdcp1 UTSW 9 123182381 missense possibly damaging 0.73
R4288:Cdcp1 UTSW 9 123183628 missense probably damaging 0.99
R4888:Cdcp1 UTSW 9 123182129 intron probably benign
R4953:Cdcp1 UTSW 9 123180023 missense probably benign 0.00
R5236:Cdcp1 UTSW 9 123185193 missense probably damaging 1.00
R5546:Cdcp1 UTSW 9 123178029 missense probably damaging 1.00
R5848:Cdcp1 UTSW 9 123183705 missense possibly damaging 0.87
R5903:Cdcp1 UTSW 9 123173772 nonsense probably null
R6052:Cdcp1 UTSW 9 123185331 missense probably benign 0.04
R6344:Cdcp1 UTSW 9 123182382 missense possibly damaging 0.69
R6904:Cdcp1 UTSW 9 123173915 missense probably benign
R7038:Cdcp1 UTSW 9 123173597 missense probably damaging 1.00
R7092:Cdcp1 UTSW 9 123183613 missense probably benign 0.20
R7262:Cdcp1 UTSW 9 123173615 missense probably damaging 1.00
R7275:Cdcp1 UTSW 9 123185054 missense possibly damaging 0.79
R7294:Cdcp1 UTSW 9 123177921 missense probably benign 0.01
R7373:Cdcp1 UTSW 9 123177900 missense probably damaging 1.00
R7394:Cdcp1 UTSW 9 123173813 missense probably damaging 1.00
R7527:Cdcp1 UTSW 9 123185107 missense probably benign 0.26
R7674:Cdcp1 UTSW 9 123216006 start gained probably benign
R7680:Cdcp1 UTSW 9 123183519 missense probably damaging 1.00
R8079:Cdcp1 UTSW 9 123173790 missense probably damaging 1.00
X0028:Cdcp1 UTSW 9 123185184 missense probably damaging 1.00
Posted On2015-04-16