Incidental Mutation 'R6683:Nck2'
ID 527561
Institutional Source Beutler Lab
Gene Symbol Nck2
Ensembl Gene ENSMUSG00000066877
Gene Name non-catalytic region of tyrosine kinase adaptor protein 2
Synonyms 4833426I10Rik, NCKbeta, Grb4
MMRRC Submission 044802-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 43484643-43609678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43608338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 327 (S327P)
Ref Sequence ENSEMBL: ENSMUSP00000083611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086421]
AlphaFold O55033
Predicted Effect probably benign
Transcript: ENSMUST00000086421
AA Change: S327P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083611
Gene: ENSMUSG00000066877
AA Change: S327P

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp T C 1: 74,321,604 (GRCm39) E169G possibly damaging Het
Acat2 G A 17: 13,162,814 (GRCm39) R377C probably benign Het
Adgrg6 A G 10: 14,331,911 (GRCm39) V398A probably damaging Het
BC025920 A G 10: 81,445,135 (GRCm39) H86R probably damaging Het
BC028528 T C 3: 95,795,539 (GRCm39) T88A probably damaging Het
Creb3l4 T A 3: 90,145,112 (GRCm39) T347S probably benign Het
Dhcr7 T C 7: 143,397,048 (GRCm39) V180A probably damaging Het
Fam187a T C 11: 102,777,015 (GRCm39) V273A probably damaging Het
Hdgfl3 G A 7: 81,550,101 (GRCm39) R78W possibly damaging Het
Krt8 T C 15: 101,906,439 (GRCm39) T357A probably benign Het
Ly6d A T 15: 74,634,299 (GRCm39) V97D probably benign Het
Map3k13 T C 16: 21,711,062 (GRCm39) I115T probably benign Het
Muc2 G A 7: 141,305,214 (GRCm39) V173I probably benign Het
Ncoa7 T C 10: 30,647,717 (GRCm39) R20G probably damaging Het
Nlrp4f G A 13: 65,347,009 (GRCm39) T83I probably benign Het
Nploc4 A G 11: 120,274,156 (GRCm39) S546P probably damaging Het
Or1e1d-ps1 A G 11: 73,818,939 (GRCm39) Y36C probably damaging Het
Or51g2 C T 7: 102,622,920 (GRCm39) R93Q probably benign Het
Or52e8 C T 7: 104,625,175 (GRCm39) V10I probably benign Het
Or5b21 A G 19: 12,840,014 (GRCm39) S292G probably damaging Het
Panx1 T C 9: 14,919,307 (GRCm39) E184G probably benign Het
Parp14 T C 16: 35,655,047 (GRCm39) Y1808C probably damaging Het
Plcb1 A T 2: 134,628,513 (GRCm39) S21C probably benign Het
Ppil6 A G 10: 41,374,427 (GRCm39) N103D probably benign Het
Pth1r C T 9: 110,556,319 (GRCm39) probably null Het
Rapgef4 A T 2: 71,885,123 (GRCm39) probably benign Het
Rlf A G 4: 121,005,123 (GRCm39) S1286P probably damaging Het
Rnf217 A G 10: 31,410,822 (GRCm39) V291A possibly damaging Het
Serpina3a T C 12: 104,085,896 (GRCm39) M117T probably benign Het
St8sia4 T C 1: 95,581,424 (GRCm39) D106G probably damaging Het
Tjp2 A G 19: 24,098,207 (GRCm39) I485T probably damaging Het
Trdc T C 14: 54,381,692 (GRCm39) probably benign Het
Ttn A G 2: 76,541,004 (GRCm39) L33994P probably damaging Het
Vmn2r42 T A 7: 8,187,224 (GRCm39) K799N probably damaging Het
Zfp42 G A 8: 43,749,093 (GRCm39) T136M possibly damaging Het
Znhit1 A T 5: 137,011,487 (GRCm39) S109T probably benign Het
Other mutations in Nck2
AlleleSourceChrCoordTypePredicted EffectPPH Score
wake UTSW 1 43,593,420 (GRCm39) missense probably benign
R0420:Nck2 UTSW 1 43,593,278 (GRCm39) missense probably damaging 1.00
R0503:Nck2 UTSW 1 43,572,728 (GRCm39) start codon destroyed probably null 0.96
R0538:Nck2 UTSW 1 43,608,304 (GRCm39) splice site probably benign
R1080:Nck2 UTSW 1 43,572,741 (GRCm39) missense probably benign 0.00
R2509:Nck2 UTSW 1 43,593,393 (GRCm39) missense probably damaging 1.00
R4029:Nck2 UTSW 1 43,593,251 (GRCm39) missense probably benign
R4923:Nck2 UTSW 1 43,500,231 (GRCm39) intron probably benign
R5425:Nck2 UTSW 1 43,593,552 (GRCm39) missense probably benign 0.05
R6175:Nck2 UTSW 1 43,572,729 (GRCm39) start codon destroyed probably null 0.96
R6859:Nck2 UTSW 1 43,593,511 (GRCm39) missense probably benign 0.24
R7514:Nck2 UTSW 1 43,608,381 (GRCm39) missense probably benign 0.00
R8021:Nck2 UTSW 1 43,593,420 (GRCm39) missense probably benign
R8278:Nck2 UTSW 1 43,593,740 (GRCm39) missense probably damaging 1.00
R9004:Nck2 UTSW 1 43,593,510 (GRCm39) missense
R9063:Nck2 UTSW 1 43,593,503 (GRCm39) missense possibly damaging 0.91
R9559:Nck2 UTSW 1 43,593,207 (GRCm39) missense probably damaging 1.00
R9746:Nck2 UTSW 1 43,572,892 (GRCm39) nonsense probably null
Z1088:Nck2 UTSW 1 43,593,543 (GRCm39) missense possibly damaging 0.55
Z1177:Nck2 UTSW 1 43,593,516 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-07-23