Incidental Mutation 'R0503:Nck2'
ID 47229
Institutional Source Beutler Lab
Gene Symbol Nck2
Ensembl Gene ENSMUSG00000066877
Gene Name non-catalytic region of tyrosine kinase adaptor protein 2
Synonyms 4833426I10Rik, Grb4, NCKbeta
MMRRC Submission 038698-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0503 (G1)
Quality Score 223
Status Validated
Chromosome 1
Chromosomal Location 43444579-43570515 bp(+) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 43533568 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000140338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086421] [ENSMUST00000187435] [ENSMUST00000202540]
AlphaFold O55033
Predicted Effect probably null
Transcript: ENSMUST00000086421
AA Change: M1V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083611
Gene: ENSMUSG00000066877
AA Change: M1V

SH3 5 60 7.06e-17 SMART
SH3 114 169 8.56e-16 SMART
SH3 198 256 2.09e-19 SMART
SH2 283 365 2.86e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114744
SMART Domains Protein: ENSMUSP00000110392
Gene: ENSMUSG00000066877

SH3 5 60 7.06e-17 SMART
SH3 114 169 8.56e-16 SMART
SH3 198 256 2.09e-19 SMART
SH2 283 365 2.86e-28 SMART
Predicted Effect probably null
Transcript: ENSMUST00000187435
AA Change: M1V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably null
Transcript: ENSMUST00000202540
AA Change: M1V

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144224
Gene: ENSMUSG00000066877
AA Change: M1V

SH3 5 60 4.3e-19 SMART
PDB:2CUB|A 106 142 4e-13 PDB
Blast:SH3 114 142 3e-11 BLAST
Meta Mutation Damage Score 0.9683 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene display no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,947,495 (GRCm38) H755R possibly damaging Het
Atp2c2 A G 8: 119,734,577 (GRCm38) E279G probably null Het
Ccdc65 G T 15: 98,709,160 (GRCm38) D83Y probably damaging Het
Cd200r2 T A 16: 44,877,962 (GRCm38) M1K probably null Het
Clca4c-ps A T 3: 144,879,822 (GRCm38) noncoding transcript Het
Col6a6 A T 9: 105,767,351 (GRCm38) M1246K probably benign Het
Comp A T 8: 70,375,734 (GRCm38) N130I possibly damaging Het
Crot A G 5: 8,976,075 (GRCm38) V304A possibly damaging Het
Dapk1 T A 13: 60,730,848 (GRCm38) probably null Het
Dspp A T 5: 104,177,256 (GRCm38) D495V unknown Het
Erich2 A T 2: 70,509,699 (GRCm38) R169S probably damaging Het
Erich2 C A 2: 70,540,775 (GRCm38) S426R unknown Het
Gab1 C T 8: 80,800,142 (GRCm38) R109H probably damaging Het
Ggcx GTCTAT GTCTATCTAT 6: 72,429,157 (GRCm38) probably null Het
Gria1 T G 11: 57,189,716 (GRCm38) V175G probably damaging Het
Hmcn1 C T 1: 150,859,252 (GRCm38) V170M probably damaging Het
Irx4 T A 13: 73,266,584 (GRCm38) probably null Het
Katnb1 A G 8: 95,095,174 (GRCm38) T212A probably damaging Het
Kirrel A G 3: 87,097,802 (GRCm38) S80P probably benign Het
Lrrc75b T C 10: 75,553,654 (GRCm38) T81A possibly damaging Het
Macf1 A G 4: 123,469,815 (GRCm38) S1775P probably damaging Het
Mmp10 A T 9: 7,507,339 (GRCm38) I387F probably damaging Het
Mphosph10 A T 7: 64,389,893 (GRCm38) C110S probably benign Het
Mpig6b A G 17: 35,064,448 (GRCm38) probably benign Het
Mrps27 G T 13: 99,409,795 (GRCm38) probably benign Het
Muc6 G T 7: 141,638,772 (GRCm38) T1996N possibly damaging Het
Mybpc2 A G 7: 44,512,570 (GRCm38) probably benign Het
Nbea C T 3: 55,642,836 (GRCm38) G2724S possibly damaging Het
Nefl T A 14: 68,083,983 (GRCm38) D7E probably benign Het
Nktr T A 9: 121,750,740 (GRCm38) probably benign Het
Nlrp12 C T 7: 3,249,377 (GRCm38) E55K probably damaging Het
Nsun7 T A 5: 66,283,581 (GRCm38) probably benign Het
Olfr1214 C T 2: 88,987,978 (GRCm38) V75I probably benign Het
Olfr523 T C 7: 140,176,441 (GRCm38) V113A possibly damaging Het
Olfr586 A T 7: 103,122,436 (GRCm38) M112K possibly damaging Het
Olfr729 T A 14: 50,148,478 (GRCm38) Y132F probably damaging Het
Olfr769 T C 10: 129,111,802 (GRCm38) T208A probably damaging Het
Olfr961 A G 9: 39,647,476 (GRCm38) Y250C probably damaging Het
Pcdh15 A G 10: 74,210,385 (GRCm38) T165A probably damaging Het
Pikfyve A T 1: 65,219,899 (GRCm38) H410L probably damaging Het
Polr3c A T 3: 96,713,636 (GRCm38) probably null Het
Ptdss2 T A 7: 141,151,797 (GRCm38) probably benign Het
Ptprg A G 14: 12,237,138 (GRCm38) M1386V possibly damaging Het
Ptpru T C 4: 131,793,643 (GRCm38) N784S probably benign Het
Rfx4 T A 10: 84,894,332 (GRCm38) I495K possibly damaging Het
Serpina12 C A 12: 104,031,159 (GRCm38) A368S probably damaging Het
Tmem39b A C 4: 129,686,986 (GRCm38) Y238D possibly damaging Het
Tspan11 T C 6: 127,939,112 (GRCm38) W124R probably benign Het
Ttll10 T C 4: 156,047,548 (GRCm38) probably benign Het
Tyro3 T C 2: 119,803,230 (GRCm38) probably benign Het
Unc79 A G 12: 103,078,868 (GRCm38) M644V probably benign Het
Vmn1r196 G A 13: 22,293,387 (GRCm38) M65I probably benign Het
Vmn2r85 T C 10: 130,422,740 (GRCm38) Y482C probably damaging Het
Zfp940 A G 7: 29,846,020 (GRCm38) probably benign Het
Zfyve9 A T 4: 108,719,764 (GRCm38) L40* probably null Het
Zkscan1 T A 5: 138,093,326 (GRCm38) I107N probably damaging Het
Other mutations in Nck2
AlleleSourceChrCoordTypePredicted EffectPPH Score
wake UTSW 1 43,554,260 (GRCm38) missense probably benign
R0420:Nck2 UTSW 1 43,554,118 (GRCm38) missense probably damaging 1.00
R0538:Nck2 UTSW 1 43,569,144 (GRCm38) splice site probably benign
R1080:Nck2 UTSW 1 43,533,581 (GRCm38) missense probably benign 0.00
R2509:Nck2 UTSW 1 43,554,233 (GRCm38) missense probably damaging 1.00
R4029:Nck2 UTSW 1 43,554,091 (GRCm38) missense probably benign
R4923:Nck2 UTSW 1 43,461,071 (GRCm38) intron probably benign
R5425:Nck2 UTSW 1 43,554,392 (GRCm38) missense probably benign 0.05
R6175:Nck2 UTSW 1 43,533,569 (GRCm38) start codon destroyed probably null 0.96
R6683:Nck2 UTSW 1 43,569,178 (GRCm38) missense probably benign
R6859:Nck2 UTSW 1 43,554,351 (GRCm38) missense probably benign 0.24
R7514:Nck2 UTSW 1 43,569,221 (GRCm38) missense probably benign 0.00
R8021:Nck2 UTSW 1 43,554,260 (GRCm38) missense probably benign
R8278:Nck2 UTSW 1 43,554,580 (GRCm38) missense probably damaging 1.00
R9004:Nck2 UTSW 1 43,554,350 (GRCm38) missense
R9063:Nck2 UTSW 1 43,554,343 (GRCm38) missense possibly damaging 0.91
R9559:Nck2 UTSW 1 43,554,047 (GRCm38) missense probably damaging 1.00
R9746:Nck2 UTSW 1 43,533,732 (GRCm38) nonsense probably null
Z1088:Nck2 UTSW 1 43,554,383 (GRCm38) missense possibly damaging 0.55
Z1177:Nck2 UTSW 1 43,554,356 (GRCm38) missense probably benign 0.02
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-06-12