Incidental Mutation 'R5425:Nck2'
ID 426792
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 042991-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5425 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 43484643-43609678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 43593552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 253 (V253G)
Ref Sequence ENSEMBL: ENSMUSP00000083611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086421] [ENSMUST00000202540]
AlphaFold O55033
Predicted Effect probably benign
Transcript: ENSMUST00000086421
AA Change: V253G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000083611
Gene: ENSMUSG00000066877
AA Change: V253G

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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
Ace A G 11: 105,864,254 (GRCm39) E465G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Aida T A 1: 183,103,201 (GRCm39) C174S possibly damaging Het
Aldh1a2 G A 9: 71,160,286 (GRCm39) R104H probably benign Het
Aldh3a1 T C 11: 61,104,407 (GRCm39) L98P probably benign Het
Ankmy1 G T 1: 92,798,679 (GRCm39) Y20* probably null Het
Arhgap9 C A 10: 127,162,287 (GRCm39) N314K probably damaging Het
Atxn7l1 T C 12: 33,417,119 (GRCm39) Y427H probably damaging Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Bola3 G T 6: 83,326,534 (GRCm39) G18W probably benign Het
Carmil3 A G 14: 55,731,334 (GRCm39) T138A probably benign Het
Castor1 T A 11: 4,171,689 (GRCm39) H304Q probably damaging Het
Ccnd2 A G 6: 127,127,580 (GRCm39) Y53H probably benign Het
Cd101 T A 3: 100,926,002 (GRCm39) D239V probably damaging Het
Ces1g T A 8: 94,052,428 (GRCm39) Q287L probably benign Het
Cfap43 C T 19: 47,885,371 (GRCm39) A415T possibly damaging Het
Cfap74 A G 4: 155,540,149 (GRCm39) probably benign Het
Crnn A G 3: 93,056,456 (GRCm39) K414R probably benign Het
Csf1 A G 3: 107,656,212 (GRCm39) L273P possibly damaging Het
Dab2ip T G 2: 35,600,003 (GRCm39) H206Q probably benign Het
Dipk2a T C 9: 94,419,745 (GRCm39) S62G probably damaging Het
Diras2 A G 13: 52,662,083 (GRCm39) S75P probably damaging Het
Dst T C 1: 34,218,831 (GRCm39) V1757A probably benign Het
Dus4l A T 12: 31,690,807 (GRCm39) H281Q probably damaging Het
Faah A T 4: 115,857,993 (GRCm39) M436K probably null Het
Fat1 T C 8: 45,478,922 (GRCm39) V2656A possibly damaging Het
Ffar1 A C 7: 30,560,204 (GRCm39) L231R probably damaging Het
Gab1 T C 8: 81,527,018 (GRCm39) K27E probably damaging Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
H2-T5 A C 17: 36,479,377 (GRCm39) L8R probably damaging Het
Irx6 T C 8: 93,404,145 (GRCm39) probably null Het
Mcrs1 C A 15: 99,141,569 (GRCm39) R376L probably damaging Het
Mrgprb1 T A 7: 48,097,719 (GRCm39) L64F possibly damaging Het
Paip1 C T 13: 119,566,702 (GRCm39) T12M possibly damaging Het
Pdpk1 A T 17: 24,317,095 (GRCm39) L256Q probably damaging Het
Perm1 A G 4: 156,302,752 (GRCm39) D432G probably benign Het
Psg25 A T 7: 18,258,709 (GRCm39) Y322* probably null Het
Pzp G A 6: 128,466,011 (GRCm39) A1223V probably damaging Het
Rassf8 A T 6: 145,761,268 (GRCm39) Y198F probably benign Het
Repin1 A G 6: 48,573,365 (GRCm39) Q42R probably benign Het
Sirpb1b A C 3: 15,613,729 (GRCm39) C51G probably damaging Het
Snx13 C T 12: 35,150,643 (GRCm39) Q316* probably null Het
Spesp1 A G 9: 62,189,331 (GRCm39) V5A possibly damaging Het
Sprr2e G A 3: 92,260,370 (GRCm39) C67Y unknown Het
Tcaf3 G A 6: 42,573,697 (GRCm39) P172S probably damaging Het
Tmem126b A G 7: 90,120,155 (GRCm39) I72T probably benign Het
Tmem17 G T 11: 22,468,624 (GRCm39) V188L probably benign Het
Tnfrsf1b T C 4: 144,955,678 (GRCm39) probably null Het
Tshz2 A T 2: 169,725,944 (GRCm39) Q180L probably damaging Het
Ttc41 A T 10: 86,612,494 (GRCm39) I1256F probably damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Ywhag G T 5: 135,940,119 (GRCm39) H158Q 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
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
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
(F):5'- CCAACTACGTTTTGGAGGAAGC -3'
(R):5'- GACTCGCTGTCCCTAATGAG -3'

Sequencing Primer
(F):5'- TTCCTGAGCCTACGTCGG -3'
(R):5'- CGTTGCCATAGTACCACT -3'
Posted On 2016-09-01