Mutagenetix > Incidental Mutation

Incidental Mutation 'R5903:Cdcp1'

456452

Institutional Source

Beutler Lab

Gene Symbol

Cdcp1

Ensembl Gene

ENSMUSG00000035498

Gene Name

CUB domain containing protein 1

Synonyms

MMRRC Submission

044101-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5903 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123170824-123216038 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 123173772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 745 (Q745*)

Ref Sequence

ENSEMBL: ENSMUSP00000042057 (fasta)

Gene Model

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

AlphaFold

Q5U462

Predicted Effect

probably null
Transcript: ENSMUST00000039229
AA Change: Q745*

SMART Domains

Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: Q745*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148158

Meta Mutation Damage Score

0.9711

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 65,988,318	V150A	unknown	Het
Abraxas1	T	C	5: 100,817,958		probably null	Het
Actl7a	G	T	4: 56,743,827	R118L	probably damaging	Het
Atg2b	T	C	12: 105,639,359	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,706,293	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,712,279	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760	D347G	probably damaging	Het
Baz2b	C	T	2: 59,959,889	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,930,542	Y1390C	probably damaging	Het
Cep97	G	A	16: 55,919,526	S185L	probably damaging	Het
Clec4d	A	G	6: 123,267,061	H43R	probably damaging	Het
Cntn3	T	A	6: 102,242,133	M509L	probably benign	Het
Cntrob	A	C	11: 69,309,375	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,507,277	N37I	possibly damaging	Het
Edc4	A	G	8: 105,890,587	T1029A	probably benign	Het
Fam160b2	A	T	14: 70,591,681	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,171,444		probably null	Het
Fzd6	T	A	15: 39,007,388	M1K	probably null	Het
Gle1	C	A	2: 29,940,281	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,565,962	V161A	probably damaging	Het
Hsf2	T	C	10: 57,504,723	S218P	probably benign	Het
Ipo7	T	A	7: 110,050,813	C736S	probably damaging	Het
Itpkb	G	T	1: 180,413,975	V737L	probably damaging	Het
Itpr1	T	C	6: 108,489,797		probably benign	Het
Kcnh8	G	T	17: 52,803,336	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,380,462		probably benign	Het
Kdm3a	C	A	6: 71,632,250		probably benign	Het
Kif5a	T	A	10: 127,230,578	M990L	probably benign	Het
Klf12	A	G	14: 100,022,688	S202P	probably damaging	Het
Krt81	T	G	15: 101,460,202	Q390P	probably damaging	Het
Lrig3	T	C	10: 126,008,478	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,258,248	V48D	probably damaging	Het
Mta1	C	T	12: 113,136,619	P688L	probably damaging	Het
Oas1h	T	C	5: 120,870,977	V250A	probably damaging	Het
Olfr618	G	T	7: 103,597,921	G202*	probably null	Het
Olfr95	A	T	17: 37,211,021	Y277*	probably null	Het
P2rx3	T	C	2: 85,000,727	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,345,286	I101T	possibly damaging	Het
Psme4	A	T	11: 30,841,589	N1148I	probably benign	Het
Rnf213	T	C	11: 119,421,369	L874P	probably damaging	Het
Sart3	T	C	5: 113,751,239	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,970,133		probably benign	Het
Slc9b1	C	T	3: 135,392,894		probably benign	Het
Stmn3	T	C	2: 181,308,780	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,394,106	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,148,785	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,223,981	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,215,123	P113L	probably damaging	Het
Unc5a	T	A	13: 54,999,690	C438S	possibly damaging	Het
Zan	C	A	5: 137,442,134	C1946F	unknown	Het

Other mutations in Cdcp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02516:Cdcp1	APN	9	123173637	missense	possibly damaging	0.86
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
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
R8355:Cdcp1	UTSW	9	123173823	missense	probably benign	0.16
R8749:Cdcp1	UTSW	9	123189962	missense	probably benign	0.02
R8770:Cdcp1	UTSW	9	123177861	missense	possibly damaging	0.73
R8964:Cdcp1	UTSW	9	123183496	nonsense	probably null
R9241:Cdcp1	UTSW	9	123185236	missense	probably damaging	1.00
R9520:Cdcp1	UTSW	9	123183671	missense	possibly damaging	0.87
X0028:Cdcp1	UTSW	9	123185184	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCACTCTCAGACTCAGGAGGG -3'
(R):5'- AGGCTTAGAACCCCAAGGAC -3'

Sequencing Primer
(F):5'- TCTCAGACTCAGGAGGGCTACTAG -3'
(R):5'- AAGGACTCCCGTGTGTCAC -3'

Posted On

2017-02-15