Mutagenetix > Incidental Mutation

Incidental Mutation 'R6344:Cdcp1'

514059

Institutional Source

Beutler Lab

Gene Symbol

Cdcp1

Ensembl Gene

ENSMUSG00000035498

Gene Name

CUB domain containing protein 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6344 (G1)

Quality Score

218.009

Status

Not validated

Chromosome

Chromosomal Location

123170824-123216038 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123182382 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 343 (K343N)

Ref Sequence

ENSEMBL: ENSMUSP00000042057 (fasta)

Gene Model

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

AlphaFold

Q5U462

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039229
AA Change: K343N

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: K343N

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: 100.0%
3x: 99.8%
10x: 98.3%
20x: 94.7%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,437,694	P707L	probably damaging	Het
Bbip1	A	G	19: 53,931,481	V23A	probably benign	Het
Bdnf	A	T	2: 109,723,677	Y132F	probably benign	Het
C4bp	T	C	1: 130,656,015	D72G	probably benign	Het
Cep112	A	T	11: 108,519,174	Y472F	probably damaging	Het
Cops2	A	T	2: 125,858,979		probably benign	Het
Cyp27a1	T	C	1: 74,736,849		probably null	Het
Dnah7a	T	C	1: 53,397,190	I3998V	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dnhd1	A	G	7: 105,694,610	I1720M	probably benign	Het
Fkbpl	A	G	17: 34,645,570	K104R	probably damaging	Het
Helq	G	T	5: 100,766,728	A966E	probably benign	Het
Iba57	G	A	11: 59,158,293	P350L	probably damaging	Het
Iqgap3	T	C	3: 88,082,094		probably null	Het
Kcnj9	A	G	1: 172,326,146	V137A	probably benign	Het
Kif19a	G	A	11: 114,781,951		probably null	Het
Kmt2a	A	T	9: 44,821,859		probably benign	Het
Lilra5	T	A	7: 4,238,786	F195I	probably damaging	Het
Mcm9	A	G	10: 53,537,937	I349T	probably benign	Het
Mlst8	A	G	17: 24,477,326	L143P	probably damaging	Het
Mrc1	T	C	2: 14,244,174	F174L	probably damaging	Het
Muc5b	T	A	7: 141,862,971	L3218Q	possibly damaging	Het
Myo1h	A	G	5: 114,328,715	S275G	probably damaging	Het
Myo5a	T	A	9: 75,160,509	V615D	probably benign	Het
Myo9b	T	C	8: 71,327,914	L485P	probably damaging	Het
Nav1	A	G	1: 135,450,796	Y1646H	probably damaging	Het
Nsf	A	T	11: 103,861,904	V539D	probably damaging	Het
Nutm1	A	T	2: 112,248,902	N889K	possibly damaging	Het
Olfr133	C	T	17: 38,148,720	A44V	probably benign	Het
Olfr543	A	G	7: 102,477,531	L113P	probably damaging	Het
Pcdhga2	T	A	18: 37,670,762	V553E	probably benign	Het
Pkmyt1	T	C	17: 23,732,756	S95P	possibly damaging	Het
Ranbp2	T	A	10: 58,483,886		probably null	Het
Saxo2	T	A	7: 82,634,865	I262F	probably damaging	Het
Sco1	C	T	11: 67,055,745	R115W	probably damaging	Het
Slc27a3	G	T	3: 90,387,654	Y330*	probably null	Het
Slc6a4	C	T	11: 77,018,254	T364I	probably damaging	Het
Slit2	A	G	5: 48,219,681	I388V	probably benign	Het
Smc6	C	A	12: 11,297,106		probably benign	Het
Snx25	C	T	8: 46,035,638	W747*	probably null	Het
Stard9	T	A	2: 120,704,320	M3686K	probably benign	Het
Syne1	T	C	10: 5,022,212	D8732G	probably benign	Het
Tcaf3	A	G	6: 42,597,171	S36P	possibly damaging	Het
Trpv6	T	C	6: 41,625,422		probably null	Het
Tspear	T	C	10: 77,875,013	F490L	possibly damaging	Het
Ttn	A	G	2: 76,721,852	I31147T	probably damaging	Het
Ugt3a1	A	C	15: 9,306,231	E155D	probably damaging	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Washc2	G	T	6: 116,258,758	Q977H	probably benign	Het
Yars2	T	A	16: 16,303,035	W18R	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
R5546:Cdcp1	UTSW	9	123178029	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
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'- TCGCACAGGAAGGAAATCTTG -3'
(R):5'- GCAAACTCAGAGCTTCACAGG -3'

Sequencing Primer
(F):5'- AAATCTTGTGTATGGAGCCAGC -3'
(R):5'- CTCAGAGCTTCACAGGAGAAG -3'

Posted On

2018-04-27