Incidental Mutation 'R7114:Nedd9'
ID 551700
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 045244-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7114 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 41463392-41640836 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41492099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 137 (V137A)
Ref Sequence ENSEMBL: ENSMUSP00000021794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021794] [ENSMUST00000163623] [ENSMUST00000224803]
AlphaFold O35177
Predicted Effect probably benign
Transcript: ENSMUST00000021794
AA Change: V137A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021794
Gene: ENSMUSG00000021365
AA Change: V137A

DomainStartEndE-ValueType
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: V137A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125773
Gene: ENSMUSG00000021365
AA Change: V137A

DomainStartEndE-ValueType
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
AA Change: V131A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0684 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,900,445 (GRCm39) A1291T probably benign Het
Anks1b G A 10: 90,143,560 (GRCm39) R523Q probably damaging Het
Arhgap12 T A 18: 6,028,056 (GRCm39) I690F probably damaging Het
Caln1 T C 5: 130,868,124 (GRCm39) V220A possibly damaging Het
Cd79b T A 11: 106,202,713 (GRCm39) T263S probably damaging Het
Cep290 A T 10: 100,379,220 (GRCm39) K67N probably damaging Het
Col19a1 T C 1: 24,377,017 (GRCm39) T443A possibly damaging Het
Col25a1 A G 3: 130,389,324 (GRCm39) I636V probably benign Het
Col9a3 C T 2: 180,245,590 (GRCm39) P154S unknown Het
Cyp3a11 T A 5: 145,795,593 (GRCm39) M453L probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Eno1b T C 18: 48,180,560 (GRCm39) V246A possibly damaging Het
Eogt T C 6: 97,092,965 (GRCm39) Y404C probably damaging Het
Ephx3 T A 17: 32,404,006 (GRCm39) E380V possibly damaging Het
Fancl T C 11: 26,357,615 (GRCm39) L114P probably damaging Het
Flad1 C T 3: 89,314,837 (GRCm39) G287S probably benign Het
Gcm1 G T 9: 77,967,061 (GRCm39) K93N probably damaging Het
Golga3 T A 5: 110,350,578 (GRCm39) D704E probably benign Het
Grb14 A C 2: 64,747,197 (GRCm39) I451S probably damaging Het
Gtf3c3 T C 1: 54,462,666 (GRCm39) N366D probably benign Het
Hecw1 A T 13: 14,486,356 (GRCm39) H376Q probably benign Het
Helb A T 10: 119,941,161 (GRCm39) V509E probably benign Het
Hephl1 C T 9: 14,981,111 (GRCm39) E774K probably damaging Het
Hkdc1 T C 10: 62,229,622 (GRCm39) E685G probably damaging Het
Igfn1 T C 1: 135,894,519 (GRCm39) T2016A probably benign Het
Igkv5-43 T G 6: 69,800,515 (GRCm39) Q57H probably damaging Het
Lamc3 T A 2: 31,820,657 (GRCm39) V1224E probably damaging Het
Lgals3bp C T 11: 118,284,309 (GRCm39) W423* probably null Het
Mcm9 G A 10: 53,414,669 (GRCm39) T137I possibly damaging Het
Mdga1 C A 17: 30,061,816 (GRCm39) probably null Het
Mocos C T 18: 24,799,572 (GRCm39) P269S probably damaging Het
Naa40 A G 19: 7,207,322 (GRCm39) V134A probably damaging Het
Neb G A 2: 52,082,571 (GRCm39) L5680F probably damaging Het
Nup133 T C 8: 124,642,112 (GRCm39) I784V probably benign Het
Nup214 T C 2: 31,915,256 (GRCm39) S1147P possibly damaging Het
Or10x4 A T 1: 174,218,805 (GRCm39) M57L probably damaging Het
Or8g28 G T 9: 39,169,897 (GRCm39) Q24K possibly damaging Het
Plcb4 T A 2: 135,824,043 (GRCm39) probably null Het
Pomt1 C T 2: 32,143,848 (GRCm39) T671I probably benign Het
Pomt2 G T 12: 87,157,150 (GRCm39) P723H probably damaging Het
Prpf8 T A 11: 75,394,181 (GRCm39) Y1741* probably null Het
Ptprs C G 17: 56,758,697 (GRCm39) V175L probably benign Het
Slc36a4 T C 9: 15,633,250 (GRCm39) F95L probably benign Het
Smn1 C T 13: 100,267,648 (GRCm39) P225S probably benign Het
Snrpa A T 7: 26,891,174 (GRCm39) I99N probably benign Het
Tgm5 G T 2: 120,878,977 (GRCm39) Y588* probably null Het
Tmeff2 T A 1: 51,224,404 (GRCm39) probably null Het
Tmem120b T C 5: 123,254,741 (GRCm39) F314S probably damaging Het
Trim43b C T 9: 88,967,661 (GRCm39) R325H probably benign Het
Vmn1r26 C T 6: 57,985,755 (GRCm39) A145T probably benign Het
Wdfy4 T C 14: 32,693,531 (GRCm39) probably null Het
Wnt5a C A 14: 28,244,713 (GRCm39) T320K probably damaging Het
Wrn AGCAGGTAATACATACCG AG 8: 33,775,149 (GRCm39) probably null Het
Zfp398 T C 6: 47,842,910 (GRCm39) S321P probably benign Het
Zfp959 T A 17: 56,205,501 (GRCm39) C513S possibly damaging Het
Zfr2 A G 10: 81,080,559 (GRCm39) D411G probably damaging Het
Zkscan5 T A 5: 145,147,988 (GRCm39) probably benign Het
Other mutations in Nedd9
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGATGTCTGGGGTAAGCCATTTAG -3'
(R):5'- GATTGGTCCAGTGCAAGAGAC -3'

Sequencing Primer
(F):5'- GGGTAAGCCATTTAGTATGTTTGC -3'
(R):5'- GTCATGAGCAGCCTACTCCTG -3'
Posted On 2019-05-15