Mutagenetix > Incidental Mutation

Incidental Mutation 'R5070:Nedd9'

388683

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

042660-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5070 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41463392-41640836 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41470074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 360 (V360L)

Ref Sequence

ENSEMBL: ENSMUSP00000125773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021794] [ENSMUST00000163623] [ENSMUST00000224803]

AlphaFold

O35177

Predicted Effect

probably benign
Transcript: ENSMUST00000021794
AA Change: V360L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000021794
Gene: ENSMUSG00000021365
AA Change: V360L

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 benign
Transcript: ENSMUST00000163623
AA Change: V360L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000125773
Gene: ENSMUSG00000021365
AA Change: V360L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224803

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
Acacb	T	C	5: 114,384,089 (GRCm39)	I2206T	possibly damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
AI987944	C	T	7: 41,024,748 (GRCm39)	G77D	probably benign	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Bend3	A	T	10: 43,369,681 (GRCm39)	E11D	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Cds2	T	A	2: 132,144,008 (GRCm39)	Y4*	probably null	Het
Celsr1	G	T	15: 85,823,335 (GRCm39)	P1691Q	possibly damaging	Het
Chmp1a	A	T	8: 123,933,054 (GRCm39)	V133E	probably benign	Het
Cnbd2	T	C	2: 156,177,318 (GRCm39)	V92A	probably damaging	Het
Comp	G	A	8: 70,829,145 (GRCm39)	G272S	probably benign	Het
Csnk1a1	T	A	18: 61,688,852 (GRCm39)	F11I	probably benign	Het
Ctse	A	G	1: 131,595,917 (GRCm39)	D203G	probably damaging	Het
Cyp1b1	T	A	17: 80,018,040 (GRCm39)	M372L	probably benign	Het
Cyp2c66	T	A	19: 39,151,914 (GRCm39)	S210T	probably benign	Het
Dnah1	G	A	14: 31,004,375 (GRCm39)	P2385S	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Eif4g3	A	G	4: 137,873,610 (GRCm39)	T682A	probably benign	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Fam136b-ps	C	T	15: 31,276,862 (GRCm39)		probably benign	Het
Fbxl7	T	A	15: 26,789,640 (GRCm39)	H29L	probably benign	Het
Fbxw22	A	G	9: 109,214,183 (GRCm39)	V211A	probably benign	Het
Frk	A	T	10: 34,360,280 (GRCm39)	K94*	probably null	Het
G0s2	T	A	1: 192,954,870 (GRCm39)	E71D	probably damaging	Het
Gfpt1	A	G	6: 87,030,727 (GRCm39)		probably null	Het
Gga1	A	G	15: 78,776,217 (GRCm39)	D420G	possibly damaging	Het
Gldc	T	C	19: 30,095,998 (GRCm39)	Q671R	possibly damaging	Het
Gpc6	A	G	14: 117,424,181 (GRCm39)	T90A	probably benign	Het
Gucy2g	C	A	19: 55,218,219 (GRCm39)	V410F	probably damaging	Het
Ifnlr1	T	C	4: 135,431,509 (GRCm39)	S233P	probably benign	Het
Ighv1-9	A	T	12: 114,547,377 (GRCm39)	W55R	probably damaging	Het
Igsf10	T	A	3: 59,235,714 (GRCm39)	H1489L	probably benign	Het
Il17re	T	C	6: 113,435,971 (GRCm39)	L39P	probably damaging	Het
Irag1	A	G	7: 110,524,519 (GRCm39)	S208P	probably benign	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Kcnk3	A	G	5: 30,779,730 (GRCm39)	H260R	possibly damaging	Het
Kctd19	T	C	8: 106,118,631 (GRCm39)	Y287C	probably damaging	Het
Klhl28	A	T	12: 65,004,486 (GRCm39)	M9K	probably benign	Het
Lama2	A	G	10: 27,226,247 (GRCm39)		probably null	Het
Lrrc27	A	T	7: 138,794,715 (GRCm39)	D26V	probably damaging	Het
Mcm4	A	G	16: 15,443,434 (GRCm39)	S830P	probably damaging	Het
Mei1	T	A	15: 81,961,804 (GRCm39)	C188S	possibly damaging	Het
Mettl13	C	T	1: 162,373,468 (GRCm39)	R261H	possibly damaging	Het
Mex3a	A	T	3: 88,443,694 (GRCm39)	I257F	probably damaging	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mier2	T	C	10: 79,385,411 (GRCm39)	D139G	probably benign	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Myh14	A	G	7: 44,265,672 (GRCm39)	V1569A	possibly damaging	Het
Myo18b	T	C	5: 112,909,212 (GRCm39)	E1977G	probably damaging	Het
Myo3b	T	C	2: 70,083,456 (GRCm39)	L675P	probably damaging	Het
N4bp1	A	G	8: 87,587,165 (GRCm39)	V591A	probably damaging	Het
Oit3	C	T	10: 59,259,849 (GRCm39)	R518H	probably damaging	Het
Or10ag57	T	G	2: 87,218,507 (GRCm39)	C153G	probably damaging	Het
Or11g2	A	G	14: 50,855,931 (GRCm39)	N84S	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or1j14	T	A	2: 36,417,778 (GRCm39)	M118K	probably damaging	Het
Or2aj6	A	G	16: 19,443,742 (GRCm39)	I36T	possibly damaging	Het
Or2j6	A	G	7: 139,980,482 (GRCm39)	V159A	probably benign	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pask	A	T	1: 93,258,596 (GRCm39)	C251S	probably damaging	Het
Pdzk1	A	T	3: 96,757,637 (GRCm39)	D31V	probably benign	Het
Pmfbp1	A	T	8: 110,256,787 (GRCm39)	Q497L	probably damaging	Het
Pofut1	T	C	2: 153,103,486 (GRCm39)		probably benign	Het
Polr2h	A	G	16: 20,540,716 (GRCm39)	N95S	probably damaging	Het
Pou2f3	A	G	9: 43,056,578 (GRCm39)	V93A	possibly damaging	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Prkd1	A	T	12: 50,441,405 (GRCm39)	L327*	probably null	Het
Prrt4	T	C	6: 29,177,511 (GRCm39)	E86G	probably benign	Het
Psen2	T	C	1: 180,056,422 (GRCm39)	I393V	probably benign	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Qser1	C	T	2: 104,617,627 (GRCm39)	V1062I	possibly damaging	Het
Rab11b	G	T	17: 33,967,855 (GRCm39)	A114D	probably damaging	Het
Rag1	A	T	2: 101,472,656 (GRCm39)	W829R	probably damaging	Het
Rgl3	A	G	9: 21,899,340 (GRCm39)		probably null	Het
Rgs8	C	T	1: 153,541,650 (GRCm39)	T3I	probably damaging	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rps6kb2	A	T	19: 4,213,227 (GRCm39)	D6E	probably damaging	Het
Shisal1	G	T	15: 84,304,364 (GRCm39)	A14E	possibly damaging	Het
Skint5	T	A	4: 113,652,735 (GRCm39)	I630F	unknown	Het
Skint7	T	C	4: 111,841,331 (GRCm39)	L257P	probably damaging	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Sorl1	T	C	9: 41,943,114 (GRCm39)	K921E	possibly damaging	Het
Stub1	A	G	17: 26,051,112 (GRCm39)	L90P	probably damaging	Het
Sycp1	A	T	3: 102,827,881 (GRCm39)	S289T	probably damaging	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tead3	T	C	17: 28,560,451 (GRCm39)	K51R	probably benign	Het
Tmed11	T	A	5: 108,943,089 (GRCm39)	I30L	probably benign	Het
Tmem131	A	G	1: 36,893,986 (GRCm39)	I139T	probably damaging	Het
Tmem191	A	G	16: 17,095,559 (GRCm39)	Q206R	probably null	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,655,750 (GRCm39)	I661T	probably benign	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Uqcrq	A	G	11: 53,320,954 (GRCm39)		probably null	Het
Vmn1r215	T	A	13: 23,260,666 (GRCm39)	S235R	probably benign	Het
Vmn1r70	T	C	7: 10,368,325 (GRCm39)	V271A	probably benign	Het
Vps13a	G	A	19: 16,631,848 (GRCm39)	R2596C	probably benign	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wdr90	T	C	17: 26,065,307 (GRCm39)	T1650A	probably damaging	Het
Zbtb32	T	A	7: 30,290,891 (GRCm39)	M135L	probably benign	Het
Zc2hc1c	A	G	12: 85,337,288 (GRCm39)	D315G	probably benign	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het
Zfp30	A	G	7: 29,485,691 (GRCm39)		probably benign	Het
Zfp428	T	A	7: 24,214,550 (GRCm39)	D55E	probably damaging	Het
Zfyve26	A	T	12: 79,302,135 (GRCm39)	N1820K	probably damaging	Het
Zw10	C	A	9: 48,988,759 (GRCm39)	S675*	probably null	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
R1669:Nedd9	UTSW	13	41,465,270 (GRCm39)	missense	probably damaging	1.00
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
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'- TGACATGAGGCTGCACACAC -3'
(R):5'- GAGCTTTTCCCTGCACCATG -3'

Sequencing Primer
(F):5'- ACACCCATCTCCAGGGTCTG -3'
(R):5'- ATGCACCCTCTCAGCTGG -3'

Posted On

2016-06-06