Mutagenetix > Incidental Mutation

Incidental Mutation 'R0331:Cd2ap'

26107

Institutional Source

Beutler Lab

Gene Symbol

Cd2ap

Ensembl Gene

ENSMUSG00000061665

Gene Name

CD2-associated protein

Synonyms

Mets1, METS-1

MMRRC Submission

038540-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0331 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

43103842-43187556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43116192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 556 (V556E)

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 benign
Transcript: ENSMUST00000024709
AA Change: V556E

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000024709
Gene: ENSMUSG00000061665
AA Change: V556E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (81/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,956,021 (GRCm39)	T79S	probably benign	Het
Abtb1	T	C	6: 88,817,684 (GRCm39)		probably benign	Het
Acot12	G	A	13: 91,908,183 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,078,541 (GRCm39)	S54T	probably benign	Het
Adgrl4	T	C	3: 151,203,577 (GRCm39)	S96P	probably benign	Het
Aip	G	T	19: 4,168,247 (GRCm39)	T40K	probably damaging	Het
Anapc4	A	G	5: 53,012,984 (GRCm39)		probably benign	Het
Asz1	A	G	6: 18,103,618 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,538,161 (GRCm39)	T465A	possibly damaging	Het
Atp11a	C	T	8: 12,866,953 (GRCm39)	Q127*	probably null	Het
Axin1	A	G	17: 26,362,081 (GRCm39)	R142G	probably damaging	Het
Bcat1	T	A	6: 144,993,040 (GRCm39)	E86V	probably benign	Het
Brd4	G	A	17: 32,421,489 (GRCm39)	P749L	probably benign	Het
C1ra	G	A	6: 124,496,394 (GRCm39)		probably null	Het
Capza2	A	T	6: 17,665,102 (GRCm39)	N237I	probably benign	Het
Cfap65	G	A	1: 74,968,460 (GRCm39)	P124L	probably damaging	Het
Cfap65	G	T	1: 74,968,461 (GRCm39)	P124T	probably damaging	Het
Cftr	T	C	6: 18,235,225 (GRCm39)	V488A	possibly damaging	Het
Ckmt1	A	T	2: 121,193,337 (GRCm39)		probably null	Het
Cmya5	T	G	13: 93,280,911 (GRCm39)	E35A	possibly damaging	Het
Col7a1	A	G	9: 108,796,570 (GRCm39)		probably benign	Het
Crmp1	C	T	5: 37,422,657 (GRCm39)	L155F	possibly damaging	Het
Cyp2d10	T	A	15: 82,291,227 (GRCm39)	T33S	probably benign	Het
Dhdh	T	C	7: 45,137,544 (GRCm39)	K48E	probably benign	Het
Dlst	T	C	12: 85,165,586 (GRCm39)	V103A	probably damaging	Het
Dohh	C	T	10: 81,223,646 (GRCm39)	T233I	probably benign	Het
Dvl2	C	A	11: 69,897,043 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,914,703 (GRCm39)	Q286*	probably null	Het
Enpp6	C	A	8: 47,535,484 (GRCm39)	T343K	probably damaging	Het
Fbxw11	T	A	11: 32,661,895 (GRCm39)	F112I	probably damaging	Het
Gdpd4	T	A	7: 97,622,215 (GRCm39)	N231K	probably benign	Het
Gm6370	A	T	5: 146,430,576 (GRCm39)	T254S	probably benign	Het
Hapln4	G	T	8: 70,537,159 (GRCm39)	Q31H	probably damaging	Het
Hic1	T	A	11: 75,056,316 (GRCm39)	T858S	possibly damaging	Het
Isg20l2	T	C	3: 87,839,092 (GRCm39)	L101P	probably damaging	Het
Itga10	T	C	3: 96,559,799 (GRCm39)	Y485H	probably damaging	Het
Itgal	T	A	7: 126,905,853 (GRCm39)		probably null	Het
Itln1	T	C	1: 171,359,117 (GRCm39)	N62S	probably damaging	Het
Kdm4b	T	C	17: 56,693,289 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,226,479 (GRCm39)		probably benign	Het
Lman2	A	T	13: 55,500,829 (GRCm39)	H123Q	probably damaging	Het
Lztr1	T	A	16: 17,342,101 (GRCm39)		probably benign	Het
Myo3b	G	T	2: 69,925,605 (GRCm39)	G24V	probably damaging	Het
Nacad	T	A	11: 6,549,441 (GRCm39)	Q1250L	possibly damaging	Het
Ncor2	A	T	5: 125,161,981 (GRCm39)	M431K	unknown	Het
Nek9	T	A	12: 85,374,149 (GRCm39)		probably benign	Het
Neu1	C	A	17: 35,153,146 (GRCm39)	N255K	possibly damaging	Het
Nf2	T	A	11: 4,744,914 (GRCm39)	T75S	probably benign	Het
Nipal4	T	A	11: 46,041,040 (GRCm39)	D385V	probably damaging	Het
Olah	T	A	2: 3,343,511 (GRCm39)	N245I	probably damaging	Het
Or5p54	G	T	7: 107,554,077 (GRCm39)	L76F	probably benign	Het
Pag1	T	A	3: 9,767,030 (GRCm39)	T90S	probably benign	Het
Pald1	A	G	10: 61,176,708 (GRCm39)		probably null	Het
Parva	A	G	7: 112,144,005 (GRCm39)	M98V	probably benign	Het
Paxbp1	T	A	16: 90,834,255 (GRCm39)	D177V	possibly damaging	Het
Paxip1	A	G	5: 27,970,230 (GRCm39)	I587T	probably damaging	Het
Pclo	T	C	5: 14,730,390 (GRCm39)		probably benign	Het
Pdgfra	T	A	5: 75,355,713 (GRCm39)	D1074E	probably damaging	Het
Pef1	A	T	4: 130,021,241 (GRCm39)	D265V	probably damaging	Het
Plekhh2	G	A	17: 84,893,794 (GRCm39)	E870K	possibly damaging	Het
Plscr4	G	A	9: 92,364,695 (GRCm39)	G40D	probably damaging	Het
Psg18	A	G	7: 18,087,233 (GRCm39)	Y142H	probably benign	Het
Ptchd3	A	T	11: 121,733,017 (GRCm39)	M636L	probably benign	Het
Rab2a	A	G	4: 8,572,559 (GRCm39)	D51G	probably benign	Het
Rnf139	T	A	15: 58,771,755 (GRCm39)	D593E	probably benign	Het
Septin7	A	G	9: 25,217,552 (GRCm39)	N422S	probably benign	Het
Shprh	T	C	10: 11,069,914 (GRCm39)		probably benign	Het
Slc7a6os	A	G	8: 106,937,199 (GRCm39)	I87T	probably damaging	Het
Slc7a7	A	G	14: 54,615,381 (GRCm39)		probably benign	Het
Spc24	G	T	9: 21,668,609 (GRCm39)	N129K	possibly damaging	Het
Strip2	C	T	6: 29,926,559 (GRCm39)	T148I	probably benign	Het
Tmem150c	A	C	5: 100,234,132 (GRCm39)		probably null	Het
Trav13-5	A	G	14: 54,033,205 (GRCm39)	N38S	probably benign	Het
Ttn	G	T	2: 76,641,364 (GRCm39)	Y11801*	probably null	Het
Usp37	A	T	1: 74,493,223 (GRCm39)	L688*	probably null	Het
Usp38	T	C	8: 81,722,469 (GRCm39)	I351V	probably benign	Het
Vav2	T	A	2: 27,186,187 (GRCm39)	M223L	probably benign	Het
Wdr36	A	G	18: 32,985,968 (GRCm39)	I557M	possibly damaging	Het
Wwc2	A	T	8: 48,333,239 (GRCm39)	M259K	probably benign	Het
Znfx1	G	A	2: 166,888,898 (GRCm39)	S770L	probably benign	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
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
R6051:Cd2ap	UTSW	17	43,107,219 (GRCm39)	makesense	probably null
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'- GGCTTCAGTTCACAAAGCCTAAAAGTG -3'
(R):5'- TCTTTACCCACAGTTAAGCATGTCTGC -3'

Sequencing Primer
(F):5'- TGTATTTTAGGGAACGCATCAAAGG -3'
(R):5'- tacacacacacacacacacac -3'

Posted On

2013-04-16