Mutagenetix > Incidental Mutation

Incidental Mutation 'R7394:Cdcp1'

573674

Institutional Source

Beutler Lab

Gene Symbol

Cdcp1

Ensembl Gene

ENSMUSG00000035498

Gene Name

CUB domain containing protein 1

Synonyms

E030027H19Rik, 9030022E12Rik

MMRRC Submission

045476-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7394 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122999889-123045103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123002878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 731 (Y731C)

Ref Sequence

ENSEMBL: ENSMUSP00000042057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039229]

AlphaFold

Q5U462

Predicted Effect

probably damaging
Transcript: ENSMUST00000039229
AA Change: Y731C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: Y731C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (66/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,445,038 (GRCm39)	I208V	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Aldh1l2	T	A	10: 83,338,321 (GRCm39)	I646F	probably damaging	Het
Alms1	C	T	6: 85,599,205 (GRCm39)	P1344S	possibly damaging	Het
Ank2	T	A	3: 126,730,302 (GRCm39)	I711L	possibly damaging	Het
Ankrd6	T	C	4: 32,821,298 (GRCm39)	N251D	probably damaging	Het
Ap3m1	T	C	14: 21,088,147 (GRCm39)	T304A	probably benign	Het
Arhgef39	T	C	4: 43,499,532 (GRCm39)	T26A	possibly damaging	Het
Carnmt1	G	T	19: 18,648,201 (GRCm39)		probably benign	Het
Ccr4	C	T	9: 114,320,994 (GRCm39)	R357H	probably benign	Het
Cd4	T	A	6: 124,850,004 (GRCm39)	M104L	probably benign	Het
Cd74	A	T	18: 60,936,965 (GRCm39)		probably benign	Het
Cdyl2	A	G	8: 117,350,790 (GRCm39)	S114P	not run	Het
Cenpv	T	C	11: 62,427,114 (GRCm39)	D148G	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cfap57	T	A	4: 118,450,334 (GRCm39)	Y596F	probably benign	Het
Clec4a2	C	A	6: 123,116,079 (GRCm39)	A122E	unknown	Het
Col4a2	A	G	8: 11,496,184 (GRCm39)	T1602A	probably benign	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2j11	A	T	4: 96,204,677 (GRCm39)	Y290N	probably benign	Het
Dhx38	A	T	8: 110,283,155 (GRCm39)	V554E	probably damaging	Het
Ebf2	T	C	14: 67,474,975 (GRCm39)	V70A	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fam217a	A	T	13: 35,094,262 (GRCm39)	I499K	possibly damaging	Het
Fras1	C	A	5: 96,860,309 (GRCm39)	Y2118*	probably null	Het
Gm3248	A	T	14: 5,945,781 (GRCm38)		probably null	Het
Gm5460	T	G	14: 33,765,879 (GRCm39)	D165E	possibly damaging	Het
Grk4	A	T	5: 34,908,962 (GRCm39)	N490Y	probably benign	Het
Iglc2	T	A	16: 19,013,886 (GRCm39)	K59*	probably null	Het
Iqsec3	T	A	6: 121,363,569 (GRCm39)	H895L	possibly damaging	Het
Itgb7	A	G	15: 102,127,689 (GRCm39)	S410P	probably damaging	Het
Kmt2d	C	A	15: 98,754,265 (GRCm39)	V1613F	unknown	Het
Lama1	T	C	17: 68,024,256 (GRCm39)	L118P		Het
Lrrc25	A	T	8: 71,070,830 (GRCm39)	S204C	possibly damaging	Het
Malrd1	A	G	2: 15,700,010 (GRCm39)	D619G	unknown	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Mup17	G	A	4: 61,512,635 (GRCm39)	S86F	probably benign	Het
Nbeal2	C	T	9: 110,459,257 (GRCm39)		probably null	Het
Nfkb1	A	C	3: 135,319,458 (GRCm39)	V291G	possibly damaging	Het
Nomo1	G	T	7: 45,715,903 (GRCm39)	V757F	probably benign	Het
Nutm2	T	A	13: 50,624,043 (GRCm39)	S247T	probably damaging	Het
Or2at1	C	A	7: 99,416,553 (GRCm39)	H61Q	probably damaging	Het
Or4c120	C	T	2: 89,000,705 (GRCm39)	V284I	probably benign	Het
Or4f4-ps1	G	T	2: 111,330,241 (GRCm39)	A215S	probably damaging	Het
Or7g12	T	A	9: 18,900,006 (GRCm39)	C241S	probably damaging	Het
Or9k2b	T	A	10: 130,016,123 (GRCm39)	I209F	probably damaging	Het
Pcdhb14	A	G	18: 37,581,961 (GRCm39)	I356V	probably benign	Het
Pnkp	T	A	7: 44,508,102 (GRCm39)	S142T	probably damaging	Het
Ppia	T	C	11: 6,369,218 (GRCm39)	S99P	possibly damaging	Het
Prss47	C	T	13: 65,192,807 (GRCm39)	V325I	probably benign	Het
Ptgr3	C	T	18: 84,106,315 (GRCm39)	A9V	probably benign	Het
Ptk7	T	C	17: 46,902,683 (GRCm39)	D34G	probably damaging	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
Rasa3	G	T	8: 13,645,353 (GRCm39)	D195E	probably benign	Het
Rnf150	T	A	8: 83,717,100 (GRCm39)	Y202*	probably null	Het
Sh2d1b2	T	C	1: 170,075,716 (GRCm39)	V50A	probably damaging	Het
Slc30a4	C	T	2: 122,527,224 (GRCm39)	V390I	possibly damaging	Het
Slc30a9	G	T	5: 67,510,109 (GRCm39)		probably null	Het
Slc8a3	T	A	12: 81,260,832 (GRCm39)		probably null	Het
Smpd3	G	A	8: 106,991,642 (GRCm39)	R304W	probably damaging	Het
Snta1	A	G	2: 154,218,780 (GRCm39)	S490P	probably damaging	Het
Srcap	T	G	7: 127,134,000 (GRCm39)	M887R	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sult2a3	T	C	7: 13,845,449 (GRCm39)	T137A	probably benign	Het
Tspoap1	C	T	11: 87,656,945 (GRCm39)	Q367*	probably null	Het
Uroc1	C	T	6: 90,322,315 (GRCm39)	R280C	probably damaging	Het
Ush2a	T	C	1: 188,643,613 (GRCm39)	I4325T	possibly damaging	Het
Vmn1r32	A	G	6: 66,530,173 (GRCm39)	I201T	probably benign	Het
Zbtb47	T	A	9: 121,596,411 (GRCm39)	M626K	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
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
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'- GCGAGAAAGTGTAAGGTTCACTC -3'
(R):5'- GGACTCCCGTGTGTCACTTATC -3'

Sequencing Primer
(F):5'- GTAAGGTTCACTCTCAGACTCAGG -3'
(R):5'- CCGTGTGTCACTTATCTGTTTC -3'

Posted On

2019-09-13