Mutagenetix > Incidental Mutation

Incidental Mutation 'R7034:Cd2ap'

546573

Institutional Source

Beutler Lab

Gene Symbol

Cd2ap

Ensembl Gene

ENSMUSG00000061665

Gene Name

CD2-associated protein

Synonyms

Mets1, METS-1

MMRRC Submission

045135-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43103842-43187556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43109490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 623 (L623Q)

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 damaging
Transcript: ENSMUST00000024709
AA Change: L623Q

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

SMART Domains

Protein: ENSMUSP00000024709
Gene: ENSMUSG00000061665
AA Change: L623Q

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,445,118 (GRCm39)		probably null	Het
Adamts1	T	A	16: 85,599,634 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,299,236 (GRCm39)	K979E	probably damaging	Het
Aftph	A	T	11: 20,642,498 (GRCm39)	M845K	probably damaging	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Apeh	T	C	9: 107,971,470 (GRCm39)	E59G	possibly damaging	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Atp2b1	C	T	10: 98,823,172 (GRCm39)	T244I	probably damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Calcr	T	A	6: 3,692,543 (GRCm39)	Q400L	probably damaging	Het
Caprin2	G	A	6: 148,749,703 (GRCm39)	P536S	possibly damaging	Het
Ccdc54	A	T	16: 50,410,951 (GRCm39)	M105K	probably benign	Het
Ccna1	T	C	3: 54,953,460 (GRCm39)	E381G	possibly damaging	Het
Cdkl3	A	G	11: 51,918,042 (GRCm39)	E415G	probably benign	Het
Chd5	C	A	4: 152,445,398 (GRCm39)	L430I	possibly damaging	Het
Clspn	G	A	4: 126,474,775 (GRCm39)	E975K	possibly damaging	Het
Cobl	C	A	11: 12,204,177 (GRCm39)	V835F	probably damaging	Het
D430041D05Rik	C	A	2: 104,022,883 (GRCm39)	R1037L	probably damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dhrs9	T	G	2: 69,223,520 (GRCm39)	N89K	probably benign	Het
Erich1	A	G	8: 14,114,330 (GRCm39)	I60T	probably benign	Het
Fam184a	A	T	10: 53,570,910 (GRCm39)	S408T	possibly damaging	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Foxj3	A	G	4: 119,476,497 (GRCm39)	E259G	probably damaging	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Gck	A	G	11: 5,851,747 (GRCm39)	S441P	probably damaging	Het
Gdap1l1	G	T	2: 163,288,065 (GRCm39)	V98F	probably damaging	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
H2ac21	C	T	3: 96,127,304 (GRCm39)	Q25*	probably null	Het
Herc3	A	T	6: 58,853,840 (GRCm39)	M629L	probably benign	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Mllt11	A	G	3: 95,127,744 (GRCm39)	Y9H	probably damaging	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Mug1	A	G	6: 121,850,603 (GRCm39)	T700A	probably benign	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Myo18b	G	A	5: 112,871,770 (GRCm39)	Q2104*	probably null	Het
Nalf1	G	A	8: 9,820,589 (GRCm39)	P144S	possibly damaging	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Nwd2	A	T	5: 63,962,258 (GRCm39)	N614I	probably damaging	Het
Or6c88	G	A	10: 129,406,941 (GRCm39)	C139Y	possibly damaging	Het
Parp1	G	T	1: 180,425,817 (GRCm39)	K849N	possibly damaging	Het
Pcnx2	T	C	8: 126,512,041 (GRCm39)	T1422A	probably damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Ppcdc	T	C	9: 57,322,453 (GRCm39)	T149A	probably damaging	Het
Ppl	A	G	16: 4,905,366 (GRCm39)	V1643A	probably benign	Het
Pramel23	A	T	4: 143,423,898 (GRCm39)	I297N	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Pspc1	A	C	14: 56,996,085 (GRCm39)		probably null	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Rbm33	T	C	5: 28,599,496 (GRCm39)	M956T	unknown	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Scai	T	A	2: 39,011,147 (GRCm39)	Y163F	probably damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,379,868 (GRCm39)	H988L	probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Skint4	A	T	4: 112,015,281 (GRCm39)	I449F	possibly damaging	Het
Slc30a2	A	G	4: 134,074,653 (GRCm39)	I88V	possibly damaging	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdfy3	G	A	5: 102,055,384 (GRCm39)	T1562I	probably damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	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
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
R6051:Cd2ap	UTSW	17	43,107,219 (GRCm39)	makesense	probably null
R6063:Cd2ap	UTSW	17	43,136,802 (GRCm39)	missense	probably benign	0.00
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'- CTGAATGACTCCCTAGGAAGC -3'
(R):5'- GAAGTTCCCTTTGTATGCAGTG -3'

Sequencing Primer
(F):5'- ACAAGGCCCCATGTGTGATTC -3'
(R):5'- CCCTTTGTATGCAGTGTGCTG -3'

Posted On

2019-05-13