Mutagenetix > Incidental Mutation

Incidental Mutation 'R6051:Cd2ap'

484118

Institutional Source

Beutler Lab

Gene Symbol

Cd2ap

Ensembl Gene

ENSMUSG00000061665

Gene Name

CD2-associated protein

Synonyms

Mets1, METS-1

MMRRC Submission

044219-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6051 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43103842-43187556 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 43107219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 638 (*638W)

Ref Sequence

ENSEMBL: ENSMUSP00000024709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024709]

AlphaFold

Q9JLQ0

PDB Structure

Third SH3 domain of CD2AP [SOLUTION NMR]
RDC refined solution structure of the first SH3 domain of CD2AP [SOLUTION NMR]
High resolution structure of the second SH3 domain of CD2AP [SOLUTION NMR]
RDC refined high resolution structure of the third SH3 domain of CD2AP [SOLUTION NMR]
Distinct ubiquitin binding modes exhibited by sh3 domains: molecular determinants and functional implications [SOLUTION NMR]
Distinct ubiquitin binding modes exhibited by SH3 domains: molecular determinants and functional implications [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000024709
AA Change: *638W

SMART Domains

Protein: ENSMUSP00000024709
Gene: ENSMUSG00000061665
AA Change: *638W

Domain	Start	End	E-Value	Type
SH3	2	58	4.48e-19	SMART
SH3	111	166	6.63e-22	SMART
low complexity region	183	195	N/A	INTRINSIC
low complexity region	231	243	N/A	INTRINSIC
SH3	272	329	4.62e-21	SMART
low complexity region	336	352	N/A	INTRINSIC
low complexity region	377	399	N/A	INTRINSIC
low complexity region	410	422	N/A	INTRINSIC
PDB:3LK4\|9	475	503	2e-12	PDB
low complexity region	536	555	N/A	INTRINSIC
coiled coil region	595	635	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. The mouse genome contains at least two pseudogenes located on chromosomes 9 and 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired immune function and die at 6 to 7 weeks of age from kidney failure associated with podocyte defects and mesangial cell hyperplasia. Heterozygotes develop glomerular changes around 9 months. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,231,304 (GRCm39)	A1021S	possibly damaging	Het
Abl2	A	G	1: 156,469,655 (GRCm39)	D869G	probably damaging	Het
Adamts9	G	A	6: 92,836,907 (GRCm39)	A615V	possibly damaging	Het
Adamts9	A	G	6: 92,867,099 (GRCm39)	Y96H	probably damaging	Het
Arhgef37	A	G	18: 61,640,345 (GRCm39)	I238T	probably damaging	Het
Atr	T	A	9: 95,790,422 (GRCm39)	H1587Q	possibly damaging	Het
BB014433	T	C	8: 15,092,179 (GRCm39)	T225A	possibly damaging	Het
Bcas2	T	C	3: 103,081,657 (GRCm39)	Y87H	possibly damaging	Het
Brca1	C	T	11: 101,415,072 (GRCm39)	E160K	probably damaging	Het
Chd2	A	T	7: 73,085,590 (GRCm39)	D1681E	probably benign	Het
Cit	C	T	5: 115,984,464 (GRCm39)	P12L	probably benign	Het
Cracdl	G	T	1: 37,663,306 (GRCm39)	P864Q	probably damaging	Het
Crisp1	T	C	17: 40,616,017 (GRCm39)	Y120C	possibly damaging	Het
Cyp2c65	A	G	19: 39,049,610 (GRCm39)	D46G	probably benign	Het
Cyp2d34	A	T	15: 82,500,971 (GRCm39)	V387D	probably damaging	Het
E130311K13Rik	T	C	3: 63,823,062 (GRCm39)	H194R	probably benign	Het
Egfr	C	A	11: 16,833,607 (GRCm39)	T625N	possibly damaging	Het
Fat3	A	G	9: 16,286,751 (GRCm39)	V924A	possibly damaging	Het
Fgd6	T	C	10: 93,973,427 (GRCm39)		probably null	Het
Galnt6	A	T	15: 100,592,549 (GRCm39)	C553S	probably damaging	Het
Gm5617	T	C	9: 48,407,187 (GRCm39)	L107P	possibly damaging	Het
Hectd1	G	T	12: 51,800,887 (GRCm39)	T2035N	probably benign	Het
Hp1bp3	A	G	4: 137,961,615 (GRCm39)	T154A	possibly damaging	Het
Il10rb	A	G	16: 91,218,752 (GRCm39)	T262A	probably benign	Het
Kansl1l	A	T	1: 66,765,885 (GRCm39)	N704K	probably null	Het
Kbtbd12	T	C	6: 88,594,930 (GRCm39)	D300G	possibly damaging	Het
Lama4	G	A	10: 38,943,898 (GRCm39)	A734T	probably benign	Het
Mllt6	G	T	11: 97,571,569 (GRCm39)	G1069*	probably null	Het
Mns1	T	C	9: 72,356,735 (GRCm39)	L302P	probably damaging	Het
Muc5ac	T	A	7: 141,365,594 (GRCm39)	C2039S	possibly damaging	Het
Myof	A	G	19: 38,012,809 (GRCm39)	L42P	probably damaging	Het
Ncoa3	T	C	2: 165,900,685 (GRCm39)	L868S	probably damaging	Het
Ndc80	C	T	17: 71,824,573 (GRCm39)	G212E	probably benign	Het
Ntn4	A	G	10: 93,581,657 (GRCm39)	H610R	probably benign	Het
Nufip2	T	A	11: 77,582,742 (GRCm39)	Y219N	probably damaging	Het
Or51m1	T	C	7: 103,578,084 (GRCm39)	F18S	probably damaging	Het
Pbxip1	T	C	3: 89,350,477 (GRCm39)	S41P	probably benign	Het
Phactr2	A	T	10: 13,137,555 (GRCm39)	C196S	probably null	Het
Ppp3ca	T	A	3: 136,581,883 (GRCm39)	Y140N	probably damaging	Het
Ptprb	C	A	10: 116,176,995 (GRCm39)	Y1260*	probably null	Het
Rap1a	C	T	3: 105,657,613 (GRCm39)	R2H	possibly damaging	Het
Rbbp8	G	A	18: 11,871,664 (GRCm39)	V794I	probably benign	Het
Rbks	T	C	5: 31,809,163 (GRCm39)	N200S	probably damaging	Het
Relch	G	T	1: 105,648,997 (GRCm39)	G712V	probably damaging	Het
Rnf186	G	T	4: 138,695,277 (GRCm39)	K272N	probably damaging	Het
Rtl1	G	A	12: 109,559,458 (GRCm39)	P794S	probably damaging	Het
Tbc1d30	T	A	10: 121,132,750 (GRCm39)	I205F	probably damaging	Het
Tkt	C	T	14: 30,290,153 (GRCm39)	P261S	probably benign	Het
Trp53	G	A	11: 69,480,434 (GRCm39)	R267H	possibly damaging	Het
Ttc14	T	C	3: 33,863,073 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,737,805 (GRCm39)	S4245P	probably benign	Het
Vmn1r75	A	T	7: 11,614,978 (GRCm39)	I237F	probably damaging	Het
Vmn2r57	T	A	7: 41,097,896 (GRCm39)	H57L	probably benign	Het
Wdr62	T	C	7: 29,960,809 (GRCm39)	N40S	possibly damaging	Het
Xcr1	A	T	9: 123,685,181 (GRCm39)	F194I	probably benign	Het
Zmiz1	T	A	14: 25,572,494 (GRCm39)	M1K	probably null	Het

Other mutations in Cd2ap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00674:Cd2ap	APN	17	43,119,676 (GRCm39)	missense	probably benign	0.16
IGL00909:Cd2ap	APN	17	43,141,005 (GRCm39)	splice site	probably benign
IGL01321:Cd2ap	APN	17	43,156,280 (GRCm39)	missense	possibly damaging	0.71
IGL01350:Cd2ap	APN	17	43,136,812 (GRCm39)	nonsense	probably null
IGL01485:Cd2ap	APN	17	43,163,365 (GRCm39)	missense	probably damaging	1.00
IGL01834:Cd2ap	APN	17	43,137,252 (GRCm39)	critical splice acceptor site	probably null
IGL01834:Cd2ap	APN	17	43,137,251 (GRCm39)	critical splice acceptor site	probably null
PIT4494001:Cd2ap	UTSW	17	43,163,258 (GRCm39)	critical splice donor site	probably null
R0014:Cd2ap	UTSW	17	43,118,819 (GRCm39)	missense	probably benign
R0331:Cd2ap	UTSW	17	43,116,192 (GRCm39)	missense	probably benign	0.06
R0674:Cd2ap	UTSW	17	43,156,283 (GRCm39)	missense	possibly damaging	0.89
R1471:Cd2ap	UTSW	17	43,131,488 (GRCm39)	missense	probably benign	0.00
R1806:Cd2ap	UTSW	17	43,149,649 (GRCm39)	nonsense	probably null
R3858:Cd2ap	UTSW	17	43,127,463 (GRCm39)	nonsense	probably null
R3911:Cd2ap	UTSW	17	43,126,980 (GRCm39)	critical splice acceptor site	probably null
R3941:Cd2ap	UTSW	17	43,119,690 (GRCm39)	missense	probably damaging	0.99
R4766:Cd2ap	UTSW	17	43,163,350 (GRCm39)	missense	probably damaging	0.99
R5024:Cd2ap	UTSW	17	43,116,236 (GRCm39)	splice site	probably null
R5045:Cd2ap	UTSW	17	43,118,851 (GRCm39)	missense	probably benign	0.01
R6063:Cd2ap	UTSW	17	43,136,802 (GRCm39)	missense	probably benign	0.00
R7034:Cd2ap	UTSW	17	43,109,490 (GRCm39)	missense	probably damaging	1.00
R7036:Cd2ap	UTSW	17	43,109,490 (GRCm39)	missense	probably damaging	1.00
R7214:Cd2ap	UTSW	17	43,156,285 (GRCm39)	missense	possibly damaging	0.61
R7299:Cd2ap	UTSW	17	43,140,904 (GRCm39)	nonsense	probably null
R7301:Cd2ap	UTSW	17	43,140,904 (GRCm39)	nonsense	probably null
R7402:Cd2ap	UTSW	17	43,116,054 (GRCm39)	missense	possibly damaging	0.88
R7851:Cd2ap	UTSW	17	43,135,363 (GRCm39)	critical splice donor site	probably null
R8432:Cd2ap	UTSW	17	43,109,484 (GRCm39)	critical splice donor site	probably null
R9009:Cd2ap	UTSW	17	43,116,135 (GRCm39)	missense	possibly damaging	0.82
Z1088:Cd2ap	UTSW	17	43,118,884 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCACAGTAAGAAATAAGGCCTCTTC -3'
(R):5'- TGTGTGACTTAGCATTATCCTAGC -3'

Sequencing Primer
(F):5'- CCAACTTTTCGGTAGATGTC -3'
(R):5'- GACATTCAGCAGTATGAGTTTTACAC -3'

Posted On

2017-07-14