Incidental Mutation 'R1411:Cdcp1'
ID 200812
Institutional Source Beutler Lab
Gene Symbol Cdcp1
Ensembl Gene ENSMUSG00000035498
Gene Name CUB domain containing protein 1
Synonyms E030027H19Rik, 9030022E12Rik
MMRRC Submission 039467-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1411 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 122999889-123045103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123019177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 34 (L34Q)
Ref Sequence ENSEMBL: ENSMUSP00000042057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039229]
AlphaFold Q5U462
Predicted Effect probably damaging
Transcript: ENSMUST00000039229
AA Change: L34Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: L34Q

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
Meta Mutation Damage Score 0.3916 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 100% (46/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T A 8: 71,914,374 (GRCm39) I85F probably damaging Het
Acp4 A G 7: 43,906,267 (GRCm39) probably benign Het
Baz1b T C 5: 135,259,177 (GRCm39) F1080L possibly damaging Het
Cbx5 A T 15: 103,121,547 (GRCm39) M30K probably benign Het
Cdc73 A G 1: 143,485,252 (GRCm39) probably benign Het
Chd8 C T 14: 52,462,103 (GRCm39) V738I probably benign Het
Cpeb2 T G 5: 43,391,113 (GRCm39) probably benign Het
Cyp2c67 T A 19: 39,627,035 (GRCm39) D265V probably damaging Het
Cyp2j11 A G 4: 96,233,453 (GRCm39) I81T probably benign Het
Dbx2 T C 15: 95,530,262 (GRCm39) E235G probably damaging Het
Dgkq C A 5: 108,798,228 (GRCm39) V677F probably damaging Het
Ercc5 A G 1: 44,217,441 (GRCm39) N928S probably damaging Het
Flt1 C T 5: 147,517,126 (GRCm39) V1054M probably damaging Het
Flywch1 T C 17: 23,974,798 (GRCm39) D614G probably damaging Het
Frmd3 T C 4: 74,071,858 (GRCm39) F247L probably damaging Het
Gm1527 A G 3: 28,968,632 (GRCm39) N228S probably benign Het
Gpld1 T A 13: 25,146,791 (GRCm39) L251Q probably damaging Het
Gvin-ps3 C T 7: 105,682,686 (GRCm39) A190T probably benign Het
Gzma C T 13: 113,232,742 (GRCm39) V117I probably benign Het
Hydin C A 8: 111,301,663 (GRCm39) T3798K probably benign Het
Il1rapl1 T A X: 85,790,904 (GRCm39) S679C possibly damaging Het
Lrrc8c G A 5: 105,756,045 (GRCm39) A607T probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Mfsd4b4 A T 10: 39,768,136 (GRCm39) M319K probably damaging Het
Mroh2b A C 15: 4,947,799 (GRCm39) H538P probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nup188 A G 2: 30,233,807 (GRCm39) T1733A probably benign Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Ofcc1 A G 13: 40,296,263 (GRCm39) S524P probably benign Het
Or6x1 C T 9: 40,098,435 (GRCm39) T8I possibly damaging Het
Padi4 C T 4: 140,479,914 (GRCm39) S413N probably damaging Het
Pdzrn4 A G 15: 92,668,894 (GRCm39) *1015W probably null Het
Pkhd1 G A 1: 20,444,120 (GRCm39) P2314L probably damaging Het
Serpinb9c C G 13: 33,335,817 (GRCm39) V212L probably benign Het
Slc25a23 A G 17: 57,366,622 (GRCm39) F18L probably damaging Het
Smarca4 C A 9: 21,570,251 (GRCm39) N751K probably damaging Het
Tfip11 G T 5: 112,480,899 (GRCm39) V292L probably benign Het
Tnrc18 T C 5: 142,751,702 (GRCm39) K1201R unknown Het
Vmn1r199 T C 13: 22,567,671 (GRCm39) F322L probably benign Het
Vmn1r201 T C 13: 22,658,849 (GRCm39) V21A probably benign Het
Vmn2r108 A T 17: 20,683,107 (GRCm39) I699K probably damaging Het
Vmn2r117 T C 17: 23,679,527 (GRCm39) N566D probably damaging Het
Wdr12 A T 1: 60,127,231 (GRCm39) D141E probably benign Het
Zfp974 A G 7: 27,610,634 (GRCm39) S364P probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GAATGACCTCTCTCCCGCAGAATG -3'
(R):5'- AGGACAATGCCTCTGCTTGTCAC -3'

Sequencing Primer
(F):5'- CACCAGAGACTGGTACATCTGTG -3'
(R):5'- ACCACAGCATATTCCCTGCT -3'
Posted On 2014-05-23