Mutagenetix > Incidental Mutation

Incidental Mutation 'R5546:Cdcp1'

436295

Institutional Source

Beutler Lab

Gene Symbol

Cdcp1

Ensembl Gene

ENSMUSG00000035498

Gene Name

CUB domain containing protein 1

Synonyms

MMRRC Submission

043104-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123170824-123216038 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 123178029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 551 (P551Q)

Ref Sequence

ENSEMBL: ENSMUSP00000042057 (fasta)

Gene Model

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

AlphaFold

Q5U462

Predicted Effect

probably damaging
Transcript: ENSMUST00000039229
AA Change: P551Q

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

SMART Domains

Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: P551Q

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: ENSMUST00000140915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148158

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,929,633	N385S	probably benign	Het
Ahctf1	A	T	1: 179,754,068	I1523N	probably benign	Het
Akna	C	T	4: 63,394,959	G309E	probably benign	Het
Akna	T	C	4: 63,395,566	N107D	probably benign	Het
Arhgef15	G	A	11: 68,954,051	P240L	probably benign	Het
Brd1	T	A	15: 88,701,122	E836D	probably benign	Het
Brf2	A	G	8: 27,124,283	S292P	possibly damaging	Het
C3	A	G	17: 57,222,976	L500P	probably damaging	Het
Ccdc107	T	C	4: 43,495,685	L196P	probably damaging	Het
Ckap5	T	C	2: 91,594,816	L1224P	probably damaging	Het
Csnk1g2	C	A	10: 80,638,398	T178K	probably benign	Het
Ctsq	A	T	13: 61,037,888	C146*	probably null	Het
Cyp2ab1	T	A	16: 20,313,757	I264F	probably damaging	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 33,912,641		probably benign	Het
Dnah11	G	A	12: 117,975,848	T3179M	possibly damaging	Het
Dnah7c	A	T	1: 46,666,317	T2497S	probably damaging	Het
Eif4enif1	T	C	11: 3,243,989	V776A	probably damaging	Het
Erbb4	G	T	1: 68,298,293	T622N	probably damaging	Het
Erich6	A	G	3: 58,618,797	Y595H	probably benign	Het
Fam107a	C	T	14: 8,298,764	A121T	probably benign	Het
Gif	T	C	19: 11,748,495	S50P	possibly damaging	Het
Gpatch11	C	T	17: 78,842,119	Q183*	probably null	Het
Gpr161	C	A	1: 165,306,413	F81L	possibly damaging	Het
Hook1	G	T	4: 96,002,528	E291D	probably benign	Het
Hsf2bp	T	A	17: 31,946,695	I309F	probably damaging	Het
Hspg2	T	C	4: 137,548,174		probably null	Het
Ide	T	G	19: 37,272,224	M910L	unknown	Het
Igdcc4	A	G	9: 65,128,795	Y712C	probably damaging	Het
Kmt2d	T	C	15: 98,853,068		probably benign	Het
Lats1	T	C	10: 7,705,754	Y768H	probably damaging	Het
Mageb3	A	G	2: 121,954,387	V278A	probably damaging	Het
Mapkbp1	G	A	2: 120,019,243	R732H	probably damaging	Het
Marveld2	T	C	13: 100,600,938	I148V	probably benign	Het
Mast1	G	C	8: 84,916,260	P969A	probably damaging	Het
Myh10	T	G	11: 68,798,380	V1261G	possibly damaging	Het
Nlrp1b	A	T	11: 71,217,276	H466Q	probably benign	Het
Npr2	T	G	4: 43,650,150	V905G	probably damaging	Het
Oip5	T	A	2: 119,610,327	I240F	unknown	Het
Olfr1259	A	G	2: 89,943,585	C177R	probably damaging	Het
Olfr175-ps1	G	T	16: 58,824,153	Y185*	probably null	Het
Olfr874	T	A	9: 37,746,524	M130K	probably benign	Het
Pcsk2	G	A	2: 143,546,560	A24T	probably benign	Het
Plxnb1	G	T	9: 109,100,750	G225W	probably damaging	Het
Polr1a	T	C	6: 71,929,366	S389P	possibly damaging	Het
Prkca	A	G	11: 108,053,980	V175A	probably benign	Het
Rassf7	C	A	7: 141,217,060		probably null	Het
Rbl2	A	G	8: 91,078,932	I206V	probably benign	Het
Rnf111	A	T	9: 70,459,096	H353Q	probably benign	Het
Rpn1	T	G	6: 88,093,859	V237G	probably damaging	Het
Sec61a2	T	A	2: 5,876,540	I267F	possibly damaging	Het
Spop	G	T	11: 95,485,843	V241F	probably damaging	Het
Sptbn2	C	T	19: 4,725,950	A178V	probably damaging	Het
Stard13	A	G	5: 151,045,901	Y791H	probably benign	Het
Susd2	T	A	10: 75,642,218	I113L	probably benign	Het
Tcof1	T	C	18: 60,831,556	E666G	possibly damaging	Het
Tekt5	G	T	16: 10,361,390	A371E	possibly damaging	Het
Thap11	G	A	8: 105,855,916	E186K	probably damaging	Het
Tk2	A	T	8: 104,247,683	D45E	possibly damaging	Het
Tuba8	C	A	6: 121,222,913	Y185*	probably null	Het
Usp24	T	A	4: 106,416,047	Y2210N	probably damaging	Het
Wfdc8	A	T	2: 164,597,319		probably benign	Het
Zar1l	T	C	5: 150,512,900	N237S	probably damaging	Het
Zfp607b	A	T	7: 27,702,607	T163S	probably benign	Het
Zfp619	C	A	7: 39,535,153	H202Q	probably benign	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
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
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'- TCATGAATGCACGCCCTGAC -3'
(R):5'- TACTTGGCACAGTGAGCACAC -3'

Sequencing Primer
(F):5'- TGACTGGCAGGCCAAGC -3'
(R):5'- GGTGCACATGAATATTGGCTACC -3'

Posted On

2016-10-24