Incidental Mutation 'R6372:Tnk2'
ID 513603
Institutional Source Beutler Lab
Gene Symbol Tnk2
Ensembl Gene ENSMUSG00000022791
Gene Name tyrosine kinase, non-receptor, 2
Synonyms activated p21cdc42Hs kinase, P21cdc42Hs kinase, Ack, Pyk1, ACK1
MMRRC Submission 044522-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R6372 (G1)
Quality Score 166.009
Status Validated
Chromosome 16
Chromosomal Location 32462699-32502311 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32498603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 639 (W639R)
Ref Sequence ENSEMBL: ENSMUSP00000110779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115120] [ENSMUST00000115121] [ENSMUST00000115122] [ENSMUST00000115123] [ENSMUST00000115124] [ENSMUST00000115125] [ENSMUST00000115126] [ENSMUST00000152361] [ENSMUST00000131238]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000115120
AA Change: W134R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110773
Gene: ENSMUSG00000022791
AA Change: W134R

DomainStartEndE-ValueType
Pfam:GTPase_binding 1 24 1.1e-8 PFAM
low complexity region 247 264 N/A INTRINSIC
Pfam:Inhibitor_Mig-6 284 351 2.9e-30 PFAM
low complexity region 391 419 N/A INTRINSIC
Pfam:UBA 467 505 2.7e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115121
AA Change: W149R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110774
Gene: ENSMUSG00000022791
AA Change: W149R

DomainStartEndE-ValueType
Pfam:GTPase_binding 1 24 4.5e-9 PFAM
low complexity region 27 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115122
Predicted Effect probably damaging
Transcript: ENSMUST00000115123
AA Change: W624R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791
AA Change: W624R

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Blast:TyrKc 43 79 3e-14 BLAST
TyrKc 126 385 1.44e-129 SMART
SH3 391 447 1.52e-7 SMART
low complexity region 737 754 N/A INTRINSIC
Pfam:Inhibitor_Mig-6 774 841 3e-30 PFAM
low complexity region 881 909 N/A INTRINSIC
Pfam:UBA 957 995 1.6e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115124
AA Change: W639R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791
AA Change: W639R

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Blast:TyrKc 43 79 3e-14 BLAST
TyrKc 126 385 1.44e-129 SMART
SH3 391 447 1.52e-7 SMART
low complexity region 517 524 N/A INTRINSIC
low complexity region 752 769 N/A INTRINSIC
Pfam:Inhibitor_Mig-6 789 855 5.3e-29 PFAM
low complexity region 896 924 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115125
AA Change: W624R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791
AA Change: W624R

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Blast:TyrKc 43 79 3e-14 BLAST
TyrKc 126 385 1.44e-129 SMART
SH3 391 447 1.52e-7 SMART
low complexity region 737 754 N/A INTRINSIC
Pfam:Inhibitor_Mig-6 774 841 7.2e-31 PFAM
low complexity region 881 909 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115126
AA Change: W639R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791
AA Change: W639R

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Blast:TyrKc 43 79 3e-14 BLAST
TyrKc 126 385 1.44e-129 SMART
SH3 391 447 1.52e-7 SMART
low complexity region 517 524 N/A INTRINSIC
low complexity region 752 769 N/A INTRINSIC
Pfam:Inhibitor_Mig-6 789 856 2.9e-30 PFAM
low complexity region 896 924 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000152361
AA Change: W134R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125905
Gene: ENSMUSG00000022791
AA Change: W134R

DomainStartEndE-ValueType
SCOP:d1jo8a_ 8 38 2e-3 SMART
Pfam:GTPase_binding 39 106 2.8e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232650
Predicted Effect probably benign
Transcript: ENSMUST00000131238
SMART Domains Protein: ENSMUSP00000129382
Gene: ENSMUSG00000022791

DomainStartEndE-ValueType
Pfam:GTPase_binding 1 24 1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168506
Meta Mutation Damage Score 0.2440 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 97% (59/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T A 10: 87,066,088 (GRCm39) H136Q possibly damaging Het
Aim2 T A 1: 173,282,802 (GRCm39) probably null Het
Atp13a3 T C 16: 30,162,273 (GRCm39) H696R probably damaging Het
Atrnl1 T C 19: 57,638,764 (GRCm39) S301P probably benign Het
Atxn1 T A 13: 45,710,932 (GRCm39) I667F probably damaging Het
Cacnb4 T A 2: 52,324,679 (GRCm39) Y415F probably benign Het
Ccdc183 T C 2: 25,506,176 (GRCm39) D140G probably benign Het
Clec2g A C 6: 128,925,726 (GRCm39) H45P probably benign Het
Col5a3 A G 9: 20,696,882 (GRCm39) V917A probably damaging Het
Cryga T C 1: 65,142,204 (GRCm39) Y63C probably damaging Het
Dnajc28 T C 16: 91,414,176 (GRCm39) I23V probably benign Het
Elovl6 T C 3: 129,426,751 (GRCm39) F139S probably damaging Het
Fcgbp A G 7: 27,806,433 (GRCm39) T2134A probably damaging Het
Fcrl5 C T 3: 87,351,501 (GRCm39) Q250* probably null Het
Gimap1 T A 6: 48,720,290 (GRCm39) *301K probably null Het
Gm17472 T C 6: 42,957,823 (GRCm39) S31P possibly damaging Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gnl1 T C 17: 36,293,427 (GRCm39) F204S probably damaging Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Hk1 T C 10: 62,127,757 (GRCm39) H370R probably benign Het
Ighv7-2 G A 12: 113,876,075 (GRCm39) T10I probably benign Het
Itga9 A G 9: 118,726,389 (GRCm39) K448E probably damaging Het
Lama4 C A 10: 38,943,948 (GRCm39) N750K probably benign Het
Megf11 T C 9: 64,613,907 (GRCm39) Y1077H probably damaging Het
Mrpl45 T C 11: 97,212,388 (GRCm39) probably benign Het
Nbeal2 T C 9: 110,457,812 (GRCm39) D2185G possibly damaging Het
Ncoa3 C T 2: 165,901,267 (GRCm39) S953F possibly damaging Het
Nlrc5 T C 8: 95,206,378 (GRCm39) L743P probably damaging Het
Nol4 A G 18: 23,171,613 (GRCm39) probably null Het
Nol9 T C 4: 152,130,452 (GRCm39) S329P probably damaging Het
Ntrk1 T C 3: 87,693,355 (GRCm39) D259G probably benign Het
Or2y11 A G 11: 49,442,757 (GRCm39) Y61C probably damaging Het
Or4k40 T A 2: 111,251,147 (GRCm39) I50F probably benign Het
Or5al5 T C 2: 85,961,198 (GRCm39) T270A possibly damaging Het
Or5d16 T C 2: 87,773,319 (GRCm39) T218A probably benign Het
Or8h8 T A 2: 86,753,499 (GRCm39) I126F probably damaging Het
Pbx4 C A 8: 70,324,694 (GRCm39) A365E possibly damaging Het
Pcdhb19 T A 18: 37,630,419 (GRCm39) N71K probably benign Het
Pde2a G A 7: 101,130,599 (GRCm39) A80T probably benign Het
Psmb5 C A 14: 54,854,130 (GRCm39) R116L probably damaging Het
Recql A G 6: 142,322,566 (GRCm39) V112A probably damaging Het
Rhbdl3 C A 11: 80,221,482 (GRCm39) L207I probably damaging Het
Rtkn A G 6: 83,128,882 (GRCm39) D459G possibly damaging Het
Rubcnl C A 14: 75,285,009 (GRCm39) S509R probably damaging Het
Slc26a8 T C 17: 28,863,777 (GRCm39) T661A probably benign Het
Sspo A T 6: 48,449,475 (GRCm39) D2472V probably damaging Het
Taf4b T G 18: 14,937,790 (GRCm39) V258G probably damaging Het
Tbc1d19 T G 5: 54,014,252 (GRCm39) S293R possibly damaging Het
Tecpr1 C T 5: 144,153,776 (GRCm39) R159Q probably damaging Het
Tlr3 A G 8: 45,850,048 (GRCm39) S874P probably damaging Het
Tpmt C T 13: 47,189,370 (GRCm39) probably null Het
Trappc9 T A 15: 72,461,923 (GRCm39) D935V possibly damaging Het
Trav13d-4 T C 14: 53,995,118 (GRCm39) V4A probably damaging Het
Ubn1 C T 16: 4,899,502 (GRCm39) T1082I possibly damaging Het
Usf2 G A 7: 30,654,738 (GRCm39) Q35* probably null Het
Vmn1r57 T C 7: 5,223,826 (GRCm39) M117T possibly damaging Het
Vmn2r65 G T 7: 84,589,861 (GRCm39) A685E probably damaging Het
Vxn G A 1: 9,683,546 (GRCm39) E45K probably damaging Het
Zeb2 T C 2: 44,892,551 (GRCm39) E166G probably damaging Het
Zfp808 T C 13: 62,320,291 (GRCm39) S507P probably damaging Het
Other mutations in Tnk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Tnk2 APN 16 32,499,498 (GRCm39) missense probably damaging 0.99
IGL02212:Tnk2 APN 16 32,498,960 (GRCm39) missense probably damaging 0.97
IGL02445:Tnk2 APN 16 32,494,408 (GRCm39) missense probably benign 0.00
junior UTSW 16 32,498,903 (GRCm39) missense probably benign
Rookie UTSW 16 32,498,603 (GRCm39) missense probably damaging 1.00
IGL02799:Tnk2 UTSW 16 32,484,699 (GRCm39) splice site probably benign
R0310:Tnk2 UTSW 16 32,499,408 (GRCm39) missense probably benign
R0989:Tnk2 UTSW 16 32,499,176 (GRCm39) missense probably damaging 1.00
R1556:Tnk2 UTSW 16 32,489,737 (GRCm39) critical splice donor site probably null
R1851:Tnk2 UTSW 16 32,498,280 (GRCm39) missense probably damaging 1.00
R1854:Tnk2 UTSW 16 32,498,960 (GRCm39) missense probably damaging 0.97
R1938:Tnk2 UTSW 16 32,482,560 (GRCm39) start gained probably benign
R2137:Tnk2 UTSW 16 32,489,620 (GRCm39) splice site probably null
R2189:Tnk2 UTSW 16 32,490,239 (GRCm39) missense probably damaging 1.00
R3772:Tnk2 UTSW 16 32,498,640 (GRCm39) missense probably damaging 1.00
R4037:Tnk2 UTSW 16 32,489,614 (GRCm39) missense probably damaging 1.00
R4413:Tnk2 UTSW 16 32,488,319 (GRCm39) missense probably damaging 1.00
R4751:Tnk2 UTSW 16 32,498,675 (GRCm39) missense probably damaging 1.00
R4878:Tnk2 UTSW 16 32,498,448 (GRCm39) missense probably damaging 1.00
R4983:Tnk2 UTSW 16 32,499,283 (GRCm39) missense probably damaging 1.00
R5063:Tnk2 UTSW 16 32,489,668 (GRCm39) missense probably damaging 1.00
R5541:Tnk2 UTSW 16 32,488,341 (GRCm39) missense probably benign 0.07
R5759:Tnk2 UTSW 16 32,499,482 (GRCm39) missense probably benign
R5888:Tnk2 UTSW 16 32,490,185 (GRCm39) missense probably damaging 1.00
R6142:Tnk2 UTSW 16 32,488,917 (GRCm39) missense probably damaging 1.00
R6717:Tnk2 UTSW 16 32,489,687 (GRCm39) missense probably damaging 1.00
R6939:Tnk2 UTSW 16 32,482,696 (GRCm39) missense probably damaging 1.00
R7157:Tnk2 UTSW 16 32,499,986 (GRCm39) missense probably damaging 1.00
R7292:Tnk2 UTSW 16 32,499,618 (GRCm39) missense probably benign
R7362:Tnk2 UTSW 16 32,494,338 (GRCm39) critical splice acceptor site probably null
R7477:Tnk2 UTSW 16 32,496,709 (GRCm39) splice site probably null
R7558:Tnk2 UTSW 16 32,498,903 (GRCm39) missense probably benign
R7665:Tnk2 UTSW 16 32,499,344 (GRCm39) missense probably damaging 1.00
R7731:Tnk2 UTSW 16 32,488,952 (GRCm39) missense possibly damaging 0.69
R7867:Tnk2 UTSW 16 32,500,053 (GRCm39) missense probably damaging 0.99
R8011:Tnk2 UTSW 16 32,487,183 (GRCm39) missense probably benign 0.00
R8167:Tnk2 UTSW 16 32,499,080 (GRCm39) missense probably damaging 1.00
R8738:Tnk2 UTSW 16 32,484,718 (GRCm39) missense probably damaging 1.00
R9241:Tnk2 UTSW 16 32,488,916 (GRCm39) missense probably damaging 1.00
R9267:Tnk2 UTSW 16 32,494,489 (GRCm39) missense probably damaging 1.00
R9504:Tnk2 UTSW 16 32,498,961 (GRCm39) missense possibly damaging 0.94
R9643:Tnk2 UTSW 16 32,489,018 (GRCm39) missense probably damaging 1.00
R9786:Tnk2 UTSW 16 32,498,875 (GRCm39) nonsense probably null
X0063:Tnk2 UTSW 16 32,489,668 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCACACTCATCGACTTCGG -3'
(R):5'- GCCTGGAAAATCTCTGCAGTC -3'

Sequencing Primer
(F):5'- ATCGACTTCGGTGAGGAGC -3'
(R):5'- TGGAAGGAACAGGTTATCCTCC -3'
Posted On 2018-04-27