Mutagenetix > Incidental Mutation

Incidental Mutation 'R1669:Nedd9'

187480

Institutional Source

Beutler Lab

Gene Symbol

Nedd9

Ensembl Gene

ENSMUSG00000021365

Gene Name

neural precursor cell expressed, developmentally down-regulated gene 9

Synonyms

Cas-L, HEF1, CasL, E230025G09Rik

MMRRC Submission

039705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1669 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41463392-41640836 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41465270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 790 (V790E)

Ref Sequence

ENSEMBL: ENSMUSP00000125773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021794] [ENSMUST00000163623]

AlphaFold

O35177

Predicted Effect

probably damaging
Transcript: ENSMUST00000021794
AA Change: V790E

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

SMART Domains

Protein: ENSMUSP00000021794
Gene: ENSMUSG00000021365
AA Change: V790E

Domain	Start	End	E-Value	Type
SH3	6	64	3.78e-17	SMART
internal_repeat_1	151	218	1.33e-7	PROSPERO
low complexity region	368	396	N/A	INTRINSIC
Pfam:Serine_rich	403	561	3.2e-66	PFAM
Pfam:DUF3513	611	828	1.4e-91	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163623
AA Change: V790E

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

SMART Domains

Protein: ENSMUSP00000125773
Gene: ENSMUSG00000021365
AA Change: V790E

Domain	Start	End	E-Value	Type
SH3	6	64	3.78e-17	SMART
internal_repeat_1	151	218	1.42e-7	PROSPERO
low complexity region	368	396	N/A	INTRINSIC
Pfam:Serine_rich	403	559	2.7e-60	PFAM
Pfam:DUF3513	618	827	1e-81	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (85/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for one null allele exhibit impaired lymphocyte trafficking and a deficit of splenic marginal zone B cells. Mice homozygous for another null allele display impaired spatial learning and decreased hippocampal dendritic spine densities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	C	9: 122,086,249 (GRCm39)	L258R	possibly damaging	Het
Ap3d1	A	G	10: 80,546,670 (GRCm39)		probably benign	Het
Aplp2	G	T	9: 31,079,029 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,672,257 (GRCm39)	D237G	possibly damaging	Het
Arhgef4	A	T	1: 34,771,239 (GRCm39)	H1182L	possibly damaging	Het
Ash1l	G	A	3: 88,974,549 (GRCm39)		probably null	Het
Bicdl1	C	A	5: 115,794,075 (GRCm39)	V224L	possibly damaging	Het
Cacna1h	C	A	17: 25,602,445 (GRCm39)	V1422L	probably damaging	Het
Card10	T	C	15: 78,678,153 (GRCm39)	E365G	probably benign	Het
Cd180	C	T	13: 102,841,998 (GRCm39)	T348I	probably damaging	Het
Cds2	T	A	2: 132,137,439 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,370,339 (GRCm39)	D601E	probably benign	Het
Coprs	C	T	8: 13,935,704 (GRCm39)	W12*	probably null	Het
Cpsf3	T	A	12: 21,355,332 (GRCm39)	M424K	probably damaging	Het
Cxcl13	T	A	5: 96,106,600 (GRCm39)	N57K	probably damaging	Het
Dact1	C	T	12: 71,365,547 (GRCm39)	T776M	probably damaging	Het
Depdc1a	A	G	3: 159,228,561 (GRCm39)	K438E	probably benign	Het
Dop1b	T	A	16: 93,566,548 (GRCm39)	S992T	probably damaging	Het
Dusp11	A	T	6: 85,927,008 (GRCm39)	H202Q	probably benign	Het
Ezr	T	C	17: 7,006,712 (GRCm39)	E584G	probably damaging	Het
F830104G03Rik	A	G	3: 56,797,998 (GRCm39)	V6A	unknown	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Gapvd1	T	G	2: 34,620,694 (GRCm39)		probably null	Het
Gm10267	T	C	18: 44,290,367 (GRCm39)	R47G	probably damaging	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Hfe	A	T	13: 23,890,110 (GRCm39)	L133*	probably null	Het
Hpcal4	T	C	4: 123,082,869 (GRCm39)	F72L	probably damaging	Het
Itgb4	G	A	11: 115,882,156 (GRCm39)	R825H	probably benign	Het
Kcnh8	T	A	17: 53,200,996 (GRCm39)	Y477N	probably damaging	Het
Kctd1	T	C	18: 15,195,517 (GRCm39)	N369D	possibly damaging	Het
Kdm1b	C	T	13: 47,222,024 (GRCm39)	R488C	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra8	A	T	6: 130,092,592 (GRCm39)	C236*	probably null	Het
Lca5l	T	C	16: 95,961,008 (GRCm39)	R485G	possibly damaging	Het
Lrrc2	A	G	9: 110,810,718 (GRCm39)	T363A	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,818,672 (GRCm39)	G1314D	possibly damaging	Het
Mmp10	A	T	9: 7,505,526 (GRCm39)		probably null	Het
Mmp13	A	G	9: 7,277,926 (GRCm39)	D273G	probably benign	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Msh4	C	T	3: 153,582,357 (GRCm39)	R417Q	possibly damaging	Het
Nlgn1	C	A	3: 25,490,298 (GRCm39)	L476F	probably damaging	Het
Nox4	C	A	7: 86,945,097 (GRCm39)	Q118K	probably benign	Het
Nxf1	A	G	19: 8,749,495 (GRCm39)	T131A	possibly damaging	Het
Oog3	C	A	4: 143,885,008 (GRCm39)	R309S	probably benign	Het
Oosp3	C	T	19: 11,678,378 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,479,920 (GRCm39)	T298S	probably benign	Het
Or2a7	T	A	6: 43,151,755 (GRCm39)	S278R	probably damaging	Het
Or2w6	A	T	13: 21,843,456 (GRCm39)	S12R	possibly damaging	Het
Or4c126	T	A	2: 89,824,144 (GRCm39)		probably null	Het
Or51a42	A	T	7: 103,708,516 (GRCm39)	S98T	probably benign	Het
Or5b97	A	T	19: 12,878,652 (GRCm39)	I164K	possibly damaging	Het
P2ry6	A	G	7: 100,587,630 (GRCm39)	V243A	probably damaging	Het
Pgc	C	A	17: 48,044,715 (GRCm39)	P321T	probably damaging	Het
Pramel22	T	G	4: 143,380,916 (GRCm39)	E369A	possibly damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Prkdc	T	A	16: 15,551,922 (GRCm39)	S2043T	probably damaging	Het
Rasal3	T	C	17: 32,622,072 (GRCm39)	N96D	possibly damaging	Het
Rnf4	T	C	5: 34,508,624 (GRCm39)	F162S	probably damaging	Het
Ros1	A	T	10: 52,037,907 (GRCm39)	N421K	probably damaging	Het
Rtn4rl1	A	G	11: 75,156,753 (GRCm39)	D395G	probably benign	Het
Scn8a	T	G	15: 100,909,001 (GRCm39)	V823G	probably damaging	Het
Sema3d	T	A	5: 12,558,051 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,037,307 (GRCm39)	I501T	probably damaging	Het
Slc12a7	C	T	13: 73,943,232 (GRCm39)	T382I	probably benign	Het
Slc16a12	T	A	19: 34,657,781 (GRCm39)	I41L	probably benign	Het
Slc1a1	C	A	19: 28,889,194 (GRCm39)	T489K	probably benign	Het
Slc24a3	C	T	2: 145,455,512 (GRCm39)	P467L	probably damaging	Het
Slco1a8	T	A	6: 141,933,415 (GRCm39)	I457F	probably benign	Het
Snai2	A	T	16: 14,524,908 (GRCm39)	Y138F	possibly damaging	Het
Sorcs1	A	C	19: 50,463,860 (GRCm39)	Y197D	probably damaging	Het
Sppl2a	T	A	2: 126,759,714 (GRCm39)		probably benign	Het
Srgap3	G	A	6: 112,699,865 (GRCm39)	P1038S	probably benign	Het
Ttn	T	C	2: 76,554,807 (GRCm39)	E30699G	probably damaging	Het
Vmn2r124	T	A	17: 18,283,206 (GRCm39)	M300K	possibly damaging	Het
Vwf	T	C	6: 125,624,869 (GRCm39)	S1873P	possibly damaging	Het
Wrap73	A	G	4: 154,240,588 (GRCm39)	D360G	probably damaging	Het
Zfp366	T	C	13: 99,366,069 (GRCm39)	M410T	probably damaging	Het
Zfp608	C	T	18: 55,120,811 (GRCm39)	V259I	probably benign	Het
Zfp69	C	T	4: 120,804,695 (GRCm39)		probably benign	Het
Zfp995	T	C	17: 22,098,945 (GRCm39)	T430A	probably benign	Het

Other mutations in Nedd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Nedd9	APN	13	41,469,710 (GRCm39)	missense	probably benign	0.00
IGL01412:Nedd9	APN	13	41,469,262 (GRCm39)	nonsense	probably null
IGL01669:Nedd9	APN	13	41,492,111 (GRCm39)	missense	probably damaging	0.99
IGL02543:Nedd9	APN	13	41,470,211 (GRCm39)	missense	probably damaging	1.00
IGL03302:Nedd9	APN	13	41,492,330 (GRCm39)	missense	probably damaging	0.99
hebei	UTSW	13	41,492,455 (GRCm39)	nonsense	probably null
sheep	UTSW	13	41,471,438 (GRCm39)	missense	probably benign	0.33
yanzhao	UTSW	13	41,465,270 (GRCm39)	missense	probably damaging	1.00
R1157:Nedd9	UTSW	13	41,467,979 (GRCm39)	splice site	probably null
R1611:Nedd9	UTSW	13	41,470,406 (GRCm39)	missense	probably benign
R1718:Nedd9	UTSW	13	41,492,402 (GRCm39)	missense	probably damaging	1.00
R1775:Nedd9	UTSW	13	41,471,438 (GRCm39)	missense	probably benign	0.33
R1971:Nedd9	UTSW	13	41,492,424 (GRCm39)	missense	probably damaging	1.00
R2107:Nedd9	UTSW	13	41,492,455 (GRCm39)	nonsense	probably null
R2341:Nedd9	UTSW	13	41,469,987 (GRCm39)	missense	probably damaging	1.00
R4362:Nedd9	UTSW	13	41,471,429 (GRCm39)	missense	probably damaging	0.99
R4363:Nedd9	UTSW	13	41,471,429 (GRCm39)	missense	probably damaging	0.99
R4707:Nedd9	UTSW	13	41,492,051 (GRCm39)	critical splice donor site	probably null
R4724:Nedd9	UTSW	13	41,470,073 (GRCm39)	missense	possibly damaging	0.50
R4795:Nedd9	UTSW	13	41,471,376 (GRCm39)	missense	probably benign	0.12
R4796:Nedd9	UTSW	13	41,471,376 (GRCm39)	missense	probably benign	0.12
R4853:Nedd9	UTSW	13	41,469,837 (GRCm39)	missense	probably benign	0.01
R4934:Nedd9	UTSW	13	41,492,411 (GRCm39)	missense	probably damaging	1.00
R5020:Nedd9	UTSW	13	41,469,270 (GRCm39)	missense	probably damaging	1.00
R5070:Nedd9	UTSW	13	41,470,074 (GRCm39)	missense	probably benign	0.00
R5585:Nedd9	UTSW	13	41,469,950 (GRCm39)	missense	probably damaging	1.00
R5588:Nedd9	UTSW	13	41,469,437 (GRCm39)	missense	possibly damaging	0.76
R6310:Nedd9	UTSW	13	41,471,928 (GRCm39)	missense	probably benign	0.00
R6634:Nedd9	UTSW	13	41,465,584 (GRCm39)	missense	probably damaging	1.00
R6729:Nedd9	UTSW	13	41,469,278 (GRCm39)	missense	probably damaging	0.99
R7114:Nedd9	UTSW	13	41,492,099 (GRCm39)	missense	probably benign
R7172:Nedd9	UTSW	13	41,470,280 (GRCm39)	missense	probably benign	0.01
R7477:Nedd9	UTSW	13	41,471,956 (GRCm39)	missense	probably benign	0.02
R7665:Nedd9	UTSW	13	41,469,785 (GRCm39)	missense	probably benign	0.01
R7672:Nedd9	UTSW	13	41,492,198 (GRCm39)	missense	possibly damaging	0.69
R7810:Nedd9	UTSW	13	41,465,483 (GRCm39)	missense	possibly damaging	0.52
R7893:Nedd9	UTSW	13	41,469,265 (GRCm39)	missense	probably damaging	1.00
R7952:Nedd9	UTSW	13	41,470,431 (GRCm39)	missense	probably damaging	1.00
R8215:Nedd9	UTSW	13	41,492,319 (GRCm39)	missense	probably benign	0.14
R8399:Nedd9	UTSW	13	41,471,950 (GRCm39)	nonsense	probably null
R8959:Nedd9	UTSW	13	41,469,758 (GRCm39)	missense	probably damaging	0.98
R9039:Nedd9	UTSW	13	41,471,984 (GRCm39)	missense	probably damaging	1.00
R9236:Nedd9	UTSW	13	41,492,153 (GRCm39)	missense	possibly damaging	0.86
R9663:Nedd9	UTSW	13	41,469,941 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAAGCTTCAGCTCCCTGAATTG -3'
(R):5'- AGTGCGAGACCCATTTCATTTCCC -3'

Sequencing Primer
(F):5'- GCTCCCTGAATTGATGAAAATCGAC -3'
(R):5'- CATCGACGCCCTCTTCAG -3'

Posted On

2014-05-09