Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02516:Cdcp1'

296795

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdcp1

Ensembl Gene

ENSMUSG00000035498

Gene Name

CUB domain containing protein 1

Synonyms

E030027H19Rik, 9030022E12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02516

Quality Score

Status

Chromosome

Chromosomal Location

122999889-123045103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 123002702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 790 (L790M)

Ref Sequence

ENSEMBL: ENSMUSP00000042057 (fasta)

Gene Model

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

AlphaFold

Q5U462

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039229
AA Change: L790M

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: L790M

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

Coding Region Coverage

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	C	T	8: 25,388,612 (GRCm39)	S364N	probably damaging	Het
Ano8	C	T	8: 71,937,721 (GRCm39)	G47D	probably damaging	Het
App	T	C	16: 84,752,305 (GRCm39)	T743A	probably damaging	Het
Armc3	A	G	2: 19,305,317 (GRCm39)	K692E	possibly damaging	Het
Arpp21	T	C	9: 112,014,729 (GRCm39)	N25S	probably damaging	Het
Avpr1b	G	A	1: 131,528,367 (GRCm39)	V297I	probably damaging	Het
Bpi	A	G	2: 158,109,651 (GRCm39)	I200V	possibly damaging	Het
Cacna2d4	C	T	6: 119,248,831 (GRCm39)		probably benign	Het
Cbarp	A	G	10: 79,971,379 (GRCm39)	Y149H	probably damaging	Het
Ccdc85c	T	C	12: 108,241,160 (GRCm39)	N78S	unknown	Het
Cdkn2d	T	A	9: 21,200,439 (GRCm39)	I111F	probably benign	Het
Ctsr	A	G	13: 61,310,992 (GRCm39)	V18A	probably benign	Het
Dapk1	A	G	13: 60,844,161 (GRCm39)	D60G	probably damaging	Het
Daw1	A	C	1: 83,186,949 (GRCm39)	N253T	probably benign	Het
Dcaf7	T	A	11: 105,942,698 (GRCm39)	I215N	probably damaging	Het
Ddc	A	C	11: 11,779,125 (GRCm39)	L333R	probably damaging	Het
Dennd1a	A	G	2: 37,742,406 (GRCm39)		probably null	Het
Dnah10	C	A	5: 124,864,395 (GRCm39)	T2200K	probably damaging	Het
Dock6	T	C	9: 21,713,881 (GRCm39)	Y1883C	probably damaging	Het
Ecpas	T	C	4: 58,877,102 (GRCm39)	E111G	probably damaging	Het
Eif2ak4	T	A	2: 118,266,735 (GRCm39)	I752N	probably damaging	Het
Fcho2	A	G	13: 98,866,720 (GRCm39)	I740T	probably benign	Het
Flnc	A	G	6: 29,450,840 (GRCm39)	D1496G	probably damaging	Het
Fn1	A	G	1: 71,676,482 (GRCm39)	V583A	possibly damaging	Het
Greb1l	A	C	18: 10,537,064 (GRCm39)	T1010P	probably benign	Het
Hs3st6	T	C	17: 24,977,105 (GRCm39)	L195P	probably damaging	Het
Hyi	A	G	4: 118,219,680 (GRCm39)	E239G	probably damaging	Het
Ighv2-3	G	T	12: 113,574,818 (GRCm39)	Y112*	probably null	Het
Ints3	A	G	3: 90,310,415 (GRCm39)	F495S	probably damaging	Het
Itih2	T	A	2: 10,102,728 (GRCm39)	H802L	probably benign	Het
Jag2	C	T	12: 112,874,186 (GRCm39)	V990M	probably damaging	Het
Kat6b	T	C	14: 21,659,936 (GRCm39)		probably benign	Het
Krtap4-8	C	T	11: 99,671,168 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,578,003 (GRCm39)	S380P	probably damaging	Het
Morn3	C	A	5: 123,175,363 (GRCm39)	E33*	probably null	Het
Mug2	C	T	6: 122,047,802 (GRCm39)	A771V	probably damaging	Het
N4bp3	A	T	11: 51,535,161 (GRCm39)	S343T	probably benign	Het
Nlrp1a	T	C	11: 71,005,286 (GRCm39)	N643S	probably damaging	Het
Or2c1	A	C	16: 3,657,200 (GRCm39)	D121A	probably damaging	Het
Or2h1b	T	A	17: 37,462,163 (GRCm39)	R79S	possibly damaging	Het
Or6c8	T	A	10: 128,915,662 (GRCm39)	M57L	possibly damaging	Het
Phc3	A	G	3: 31,002,942 (GRCm39)	F192S	probably damaging	Het
Pigq	C	T	17: 26,156,221 (GRCm39)	R69H	probably benign	Het
Plk3	A	G	4: 116,989,186 (GRCm39)	C222R	probably damaging	Het
Pomt2	T	C	12: 87,166,420 (GRCm39)	T490A	probably benign	Het
Prss29	T	C	17: 25,539,875 (GRCm39)	I91T	probably damaging	Het
Ralgapb	A	T	2: 158,307,735 (GRCm39)		probably benign	Het
Sccpdh	G	A	1: 179,509,256 (GRCm39)	G75D	probably damaging	Het
Serpine2	T	C	1: 79,772,714 (GRCm39)		probably benign	Het
Sfr1	T	G	19: 47,721,429 (GRCm39)		probably null	Het
Slc22a23	C	A	13: 34,387,938 (GRCm39)	C386F	probably benign	Het
Slc22a27	T	C	19: 7,842,176 (GRCm39)	K433R	probably damaging	Het
Slc39a12	T	C	2: 14,405,146 (GRCm39)	L246P	probably damaging	Het
Slc4a11	A	G	2: 130,533,313 (GRCm39)	I191T	possibly damaging	Het
Slc9c1	A	G	16: 45,398,238 (GRCm39)	N668D	probably damaging	Het
Supt16	A	T	14: 52,421,421 (GRCm39)	D41E	possibly damaging	Het
Tamalin	G	A	15: 101,126,932 (GRCm39)	V137I	probably damaging	Het
Ugt2b37	A	G	5: 87,388,741 (GRCm39)	S491P	probably damaging	Het
Urb1	G	T	16: 90,569,583 (GRCm39)	T1381N	possibly damaging	Het
Usp8	A	G	2: 126,584,094 (GRCm39)	I423M	probably benign	Het
Vmn1r191	T	A	13: 22,363,710 (GRCm39)	I15F	probably benign	Het
Zbtb5	A	T	4: 44,993,798 (GRCm39)	Y529N	probably damaging	Het
Zfp541	T	A	7: 15,816,918 (GRCm39)		probably null	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
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
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

Posted On

2015-04-16