Incidental Mutation 'R7157:Tnk2'
ID 557401
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 045258-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R7157 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 32462699-32502311 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32499986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 1017 (G1017E)
Ref Sequence ENSEMBL: ENSMUSP00000110777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115120] [ENSMUST00000115121] [ENSMUST00000115122] [ENSMUST00000115123] [ENSMUST00000115124] [ENSMUST00000115125] [ENSMUST00000115126] [ENSMUST00000131238] [ENSMUST00000152361]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000115120
AA Change: G512E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110773
Gene: ENSMUSG00000022791
AA Change: G512E

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 benign
Transcript: ENSMUST00000115121
SMART Domains Protein: ENSMUSP00000110774
Gene: ENSMUSG00000022791

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: G1002E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791
AA Change: G1002E

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: G1017E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791
AA Change: G1017E

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: G970E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791
AA Change: G970E

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: G985E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791
AA Change: G985E

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 benign
Transcript: ENSMUST00000131238
SMART Domains Protein: ENSMUSP00000129382
Gene: ENSMUSG00000022791

DomainStartEndE-ValueType
Pfam:GTPase_binding 1 24 1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152361
SMART Domains Protein: ENSMUSP00000125905
Gene: ENSMUSG00000022791

DomainStartEndE-ValueType
SCOP:d1jo8a_ 8 38 2e-3 SMART
Pfam:GTPase_binding 39 106 2.8e-38 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G A 7: 41,276,400 (GRCm39) G701D probably damaging Het
6030468B19Rik T A 11: 117,693,780 (GRCm39) N82K probably damaging Het
Abca17 A T 17: 24,554,564 (GRCm39) V130E possibly damaging Het
Alpk2 T A 18: 65,399,348 (GRCm39) K2077* probably null Het
Aox1 T C 1: 58,322,651 (GRCm39) F73S probably benign Het
Ap3b1 T A 13: 94,668,542 (GRCm39) C965* probably null Het
Arhgef10 T A 8: 14,980,030 (GRCm39) V90E probably damaging Het
Atr T A 9: 95,751,953 (GRCm39) H523Q probably benign Het
Bicdl1 G T 5: 115,789,916 (GRCm39) Q511K possibly damaging Het
Capn15 A T 17: 26,184,228 (GRCm39) N150K probably damaging Het
Card6 A T 15: 5,129,591 (GRCm39) W602R probably benign Het
Clnk A T 5: 38,927,234 (GRCm39) S82T possibly damaging Het
Cmah T C 13: 24,620,612 (GRCm39) I282T probably damaging Het
Cog8 A G 8: 107,779,131 (GRCm39) I382T probably benign Het
Dhrs7c G T 11: 67,700,722 (GRCm39) probably null Het
Dhrs9 T A 2: 69,223,502 (GRCm39) D83E probably damaging Het
Dmac2l A T 12: 69,788,562 (GRCm39) N154Y probably benign Het
Dmgdh G A 13: 93,852,043 (GRCm39) G624E probably damaging Het
Dnajc30 C A 5: 135,093,569 (GRCm39) F155L probably damaging Het
Drc7 A C 8: 95,800,778 (GRCm39) K600T probably damaging Het
Efhb A C 17: 53,707,928 (GRCm39) I745S probably damaging Het
Elp1 ACTTCTTCTTCTTCTTCTTCTTC ACTTCTTCTTCTTCTTCTTC 4: 56,781,176 (GRCm39) probably benign Het
Fasn T A 11: 120,701,291 (GRCm39) K1988* probably null Het
Gad2 T C 2: 22,525,035 (GRCm39) L273P probably damaging Het
Gm45861 A T 8: 28,032,536 (GRCm39) K887* probably null Het
Gm45861 A T 8: 28,032,537 (GRCm39) K887I unknown Het
Gm9195 A G 14: 72,718,221 (GRCm39) Y152H probably damaging Het
Grip1 G A 10: 119,781,061 (GRCm39) D237N probably damaging Het
Hamp A C 7: 30,641,961 (GRCm39) C65G possibly damaging Het
Hes3 A G 4: 152,372,581 (GRCm39) probably benign Het
Hgh1 T C 15: 76,254,650 (GRCm39) I342T probably damaging Het
Hlcs T A 16: 94,069,023 (GRCm39) K66* probably null Het
Ift80 A T 3: 68,898,277 (GRCm39) C19* probably null Het
Kbtbd12 C T 6: 88,595,650 (GRCm39) C60Y probably damaging Het
Kdm4c T A 4: 74,263,804 (GRCm39) V696E probably benign Het
Lect2 A G 13: 56,690,803 (GRCm39) I117T unknown Het
Lipn T A 19: 34,054,390 (GRCm39) Y209* probably null Het
Lpin3 G A 2: 160,740,627 (GRCm39) V391I probably benign Het
Mocs2 A T 13: 114,961,143 (GRCm39) I47L probably benign Het
Mogs T A 6: 83,095,488 (GRCm39) H768Q probably benign Het
Nbeal1 T A 1: 60,276,317 (GRCm39) I686N probably damaging Het
Nbeal1 T A 1: 60,299,793 (GRCm39) C1376* probably null Het
Ninl A G 2: 150,791,263 (GRCm39) Y1087H possibly damaging Het
Or10a3 A G 7: 108,480,475 (GRCm39) F113L probably benign Het
Or10ak14 A G 4: 118,611,615 (GRCm39) V42A possibly damaging Het
Or4k5 A G 14: 50,385,689 (GRCm39) L214S probably damaging Het
Or51b6b A C 7: 103,309,788 (GRCm39) L223R probably damaging Het
Or6s1 A G 14: 51,308,616 (GRCm39) V78A possibly damaging Het
Or8k30 T A 2: 86,339,369 (GRCm39) C189S probably damaging Het
Pkn1 A G 8: 84,398,363 (GRCm39) F768S probably damaging Het
Plekha2 A G 8: 25,553,957 (GRCm39) F82L probably damaging Het
Ppie T C 4: 123,028,900 (GRCm39) E111G probably benign Het
Rps6ka5 T C 12: 100,547,679 (GRCm39) Y277C probably damaging Het
Scgb2b12 A G 7: 32,026,102 (GRCm39) V30A probably benign Het
Serac1 A T 17: 6,124,476 (GRCm39) S16T probably benign Het
Sf3a3 T C 4: 124,616,693 (GRCm39) Y192H probably damaging Het
Slc14a1 A G 18: 78,145,626 (GRCm39) V436A probably benign Het
Smc3 T A 19: 53,630,329 (GRCm39) M1112K probably damaging Het
Tnn T A 1: 159,953,947 (GRCm39) K603* probably null Het
Trpm6 T C 19: 18,815,462 (GRCm39) S1183P possibly damaging Het
Ttn A T 2: 76,614,724 (GRCm39) V16964E possibly damaging Het
Usp17le G A 7: 104,417,696 (GRCm39) T482I probably benign Het
Vmn1r219 T A 13: 23,347,525 (GRCm39) M238K probably damaging Het
Wfs1 C T 5: 37,124,516 (GRCm39) G792S probably benign Het
Xpa A T 4: 46,185,612 (GRCm39) L122Q 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
R6372:Tnk2 UTSW 16 32,498,603 (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
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'- TATCTGAAGGTACCATCACTTCCTG -3'
(R):5'- TCTCTACCAGCTGAGGACTC -3'

Sequencing Primer
(F):5'- GTACCATCACTTCCTGCCTGC -3'
(R):5'- CAGAGGTAAGTAGGCTTTCCC -3'
Posted On 2019-06-26