Incidental Mutation 'R8278:Nck2'
ID 638045
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 067701-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8278 (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 43593740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 316 (S316P)
Ref Sequence ENSEMBL: ENSMUSP00000083611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086421] [ENSMUST00000202540]
AlphaFold O55033
Predicted Effect probably damaging
Transcript: ENSMUST00000086421
AA Change: S316P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083611
Gene: ENSMUSG00000066877
AA Change: S316P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000202540
SMART Domains Protein: ENSMUSP00000144224
Gene: ENSMUSG00000066877

DomainStartEndE-ValueType
SH3 5 60 4.3e-19 SMART
PDB:2CUB|A 106 142 4e-13 PDB
Blast:SH3 114 142 3e-11 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,668,040 (GRCm39) Q477L probably benign Het
Adcy10 A T 1: 165,330,857 (GRCm39) D40V probably damaging Het
Cab39l T C 14: 59,776,562 (GRCm39) Y248H probably damaging Het
Casr G T 16: 36,336,011 (GRCm39) D99E probably damaging Het
Cdh16 T C 8: 105,345,107 (GRCm39) E364G probably benign Het
Cep104 C T 4: 154,068,122 (GRCm39) T189I possibly damaging Het
Cfap418 T A 4: 10,882,474 (GRCm39) probably null Het
Chd7 T A 4: 8,862,485 (GRCm39) probably null Het
Chit1 G A 1: 134,078,332 (GRCm39) R380Q probably benign Het
Cpne2 A G 8: 95,281,316 (GRCm39) K174R probably damaging Het
Dchs2 T A 3: 83,178,310 (GRCm39) I1121N probably damaging Het
Fgf6 A T 6: 126,992,781 (GRCm39) Y78F probably damaging Het
H2-T10 A T 17: 36,429,832 (GRCm39) N320K probably benign Het
Heatr3 A T 8: 88,883,361 (GRCm39) N398I possibly damaging Het
Hrh4 T C 18: 13,140,284 (GRCm39) S60P probably damaging Het
Ikbip A G 10: 90,932,190 (GRCm39) H278R probably benign Het
Jmy A T 13: 93,601,224 (GRCm39) I394N probably damaging Het
Klhl8 T C 5: 104,022,107 (GRCm39) E314G probably benign Het
Lhx9 A T 1: 138,766,324 (GRCm39) C164S probably damaging Het
Loxl3 G T 6: 83,025,697 (GRCm39) G352C probably damaging Het
Lrrk1 A G 7: 65,928,432 (GRCm39) F1232S probably benign Het
Mpnd A G 17: 56,319,469 (GRCm39) T311A probably benign Het
Mpp7 A T 18: 7,444,025 (GRCm39) D132E probably benign Het
Nckap5 T C 1: 125,955,509 (GRCm39) S348G probably damaging Het
Nyap1 C T 5: 137,730,077 (GRCm39) R790H probably damaging Het
Or5b124 C T 19: 13,610,958 (GRCm39) T161I possibly damaging Het
Pdcd11 G A 19: 47,094,736 (GRCm39) V507I probably damaging Het
Pdzd2 T C 15: 12,375,995 (GRCm39) H1380R probably benign Het
Pgap1 C T 1: 54,529,430 (GRCm39) V763I probably benign Het
Pnma8b G T 7: 16,680,263 (GRCm39) V416L probably damaging Het
Prkn A T 17: 12,269,609 (GRCm39) N421Y probably benign Het
Prpf4 T C 4: 62,333,493 (GRCm39) probably null Het
Psmb5 C T 14: 54,855,342 (GRCm39) G36D probably benign Het
Ptprq A G 10: 107,522,239 (GRCm39) S571P possibly damaging Het
Rap1gap A C 4: 137,444,748 (GRCm39) S254R probably damaging Het
Rufy2 A T 10: 62,843,472 (GRCm39) D492V probably benign Het
Ryr2 C A 13: 11,610,392 (GRCm39) E4145* probably null Het
Sgsm1 A G 5: 113,407,958 (GRCm39) F898L probably damaging Het
Slc26a9 C A 1: 131,689,514 (GRCm39) A487D possibly damaging Het
Slc6a15 T C 10: 103,229,890 (GRCm39) probably null Het
Smad9 A T 3: 54,696,687 (GRCm39) T251S probably benign Het
Socs3 A T 11: 117,858,478 (GRCm39) C193* probably null Het
Sox6 T A 7: 115,076,199 (GRCm39) D813V probably damaging Het
Taf2 A T 15: 54,929,361 (GRCm39) L65* probably null Het
Taf6 G A 5: 138,178,097 (GRCm39) A468V probably benign Het
Tmem71 T C 15: 66,426,961 (GRCm39) D78G probably damaging Het
Tob2 T C 15: 81,735,288 (GRCm39) N227S probably benign Het
Trim34a C A 7: 103,898,623 (GRCm39) Q180K probably damaging Het
Ugt1a9 T C 1: 87,999,378 (GRCm39) L276P possibly damaging Het
Wdr33 G A 18: 31,960,405 (GRCm39) R23Q possibly damaging Het
Wnt7b T G 15: 85,427,887 (GRCm39) N189H Het
Zfp609 G A 9: 65,604,804 (GRCm39) A1308V possibly damaging 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
R6683:Nck2 UTSW 1 43,608,338 (GRCm39) missense probably benign
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
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
(F):5'- AACTACGTGGTTGTTCTCAGTG -3'
(R):5'- TTGTTATGCCCAGGATTAAGCC -3'

Sequencing Primer
(F):5'- TCTCAGTGATGGGCCTGCTC -3'
(R):5'- GCCTAACTTACATGACTTGGTGAGAC -3'
Posted On 2020-07-28