Incidental Mutation 'R5848:Cdcp1'
ID 453723
Institutional Source Beutler Lab
Gene Symbol Cdcp1
Ensembl Gene ENSMUSG00000035498
Gene Name CUB domain containing protein 1
Synonyms E030027H19Rik, 9030022E12Rik
MMRRC Submission 043225-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5848 (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 A at 123012770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 259 (H259L)
Ref Sequence ENSEMBL: ENSMUSP00000042057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039229]
AlphaFold Q5U462
Predicted Effect possibly damaging
Transcript: ENSMUST00000039229
AA Change: H259L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: H259L

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Aadacl4 T A 4: 144,344,428 (GRCm39) M68K probably benign Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Ckap4 T C 10: 84,369,354 (GRCm39) Q126R probably benign Het
Clec18a C T 8: 111,802,093 (GRCm39) V299I probably benign Het
D7Ertd443e A G 7: 133,951,451 (GRCm39) I27T possibly damaging Het
Dlg2 T G 7: 92,093,735 (GRCm39) D726E probably benign Het
Dnah8 T C 17: 30,947,165 (GRCm39) I1856T possibly damaging Het
Espl1 G A 15: 102,231,011 (GRCm39) V1837I probably benign Het
Fanca G T 8: 124,021,792 (GRCm39) probably benign Het
Fer1l5 A G 1: 36,428,016 (GRCm39) T437A probably benign Het
Gm10644 C A 8: 84,660,668 (GRCm39) probably benign Het
Katnb1 A G 8: 95,825,340 (GRCm39) S635G probably benign Het
Map3k12 A G 15: 102,412,670 (GRCm39) V234A possibly damaging Het
Mks1 A G 11: 87,747,696 (GRCm39) N193S probably benign Het
Mmp11 T C 10: 75,763,223 (GRCm39) E151G probably damaging Het
Napg A G 18: 63,127,440 (GRCm39) R265G possibly damaging Het
Odad2 T A 18: 7,268,507 (GRCm39) probably null Het
Or5e1 T A 7: 108,354,781 (GRCm39) C239* probably null Het
Or6e1 A G 14: 54,520,022 (GRCm39) F110S possibly damaging Het
P3r3urf T C 4: 116,030,812 (GRCm39) I72T probably damaging Het
Pcdha7 G T 18: 37,108,136 (GRCm39) C387F probably damaging Het
Pcdhb3 G T 18: 37,434,700 (GRCm39) R222L probably benign Het
Phf2 A G 13: 48,973,546 (GRCm39) M373T unknown Het
Plekha7 T C 7: 115,739,634 (GRCm39) T636A probably damaging Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rnf6 G A 5: 146,147,959 (GRCm39) P353L probably benign Het
Sel1l3 A C 5: 53,342,150 (GRCm39) L357V possibly damaging Het
Sh3rf3 T A 10: 58,819,975 (GRCm39) M262K possibly damaging Het
Sorcs3 A T 19: 48,776,950 (GRCm39) H994L probably damaging Het
Thsd7a A T 6: 12,503,922 (GRCm39) C411S probably damaging Het
Ttn T C 2: 76,593,682 (GRCm39) K20653E probably damaging Het
Ttn A C 2: 76,708,908 (GRCm39) probably null Het
Ttn A G 2: 76,611,264 (GRCm39) W15677R probably damaging Het
Ubr2 T C 17: 47,267,581 (GRCm39) M1049V possibly 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
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
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
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'- TTCATCCTGTGGACGTTGGAC -3'
(R):5'- ACAGGTATCAGCATCTCCTTTC -3'

Sequencing Primer
(F):5'- CGAAGGATTCCTGGGCTCTG -3'
(R):5'- AGGTATCAGCATCTCCTTTCTTTCTG -3'
Posted On 2017-02-10