Incidental Mutation 'R1556:Tnk2'
ID 170306
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 039595-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R1556 (G1)
Quality Score 196
Status Not validated
Chromosome 16
Chromosomal Location 32462699-32502311 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 32489737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115120] [ENSMUST00000115121] [ENSMUST00000115122] [ENSMUST00000115123] [ENSMUST00000115123] [ENSMUST00000115123] [ENSMUST00000115124] [ENSMUST00000115124] [ENSMUST00000115124] [ENSMUST00000115125] [ENSMUST00000115125] [ENSMUST00000115125] [ENSMUST00000115126] [ENSMUST00000115126] [ENSMUST00000115126] [ENSMUST00000145627] [ENSMUST00000131238] [ENSMUST00000152361]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000115120
SMART Domains Protein: ENSMUSP00000110773
Gene: ENSMUSG00000022791

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 null
Transcript: ENSMUST00000115123
SMART Domains Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791

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 null
Transcript: ENSMUST00000115123
SMART Domains Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791

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 null
Transcript: ENSMUST00000115123
SMART Domains Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791

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 null
Transcript: ENSMUST00000115124
SMART Domains Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791

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 null
Transcript: ENSMUST00000115124
SMART Domains Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791

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 null
Transcript: ENSMUST00000115124
SMART Domains Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791

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 null
Transcript: ENSMUST00000115125
SMART Domains Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791

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 null
Transcript: ENSMUST00000115125
SMART Domains Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791

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 null
Transcript: ENSMUST00000115125
SMART Domains Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791

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 null
Transcript: ENSMUST00000115126
SMART Domains Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791

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 null
Transcript: ENSMUST00000115126
SMART Domains Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791

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 null
Transcript: ENSMUST00000115126
SMART Domains Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791

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 noncoding transcript
Transcript: ENSMUST00000137044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156614
Predicted Effect probably benign
Transcript: ENSMUST00000145627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150383
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: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 73,203,477 (GRCm39) S302P probably damaging Het
Anapc1 T C 2: 128,466,819 (GRCm39) T1626A probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Arid5a T A 1: 36,359,245 (GRCm39) Y520* probably null Het
Aven G A 2: 112,461,230 (GRCm39) M215I probably damaging Het
Cabyr A G 18: 12,877,837 (GRCm39) D58G probably damaging Het
Ccdc146 A G 5: 21,535,551 (GRCm39) Y168H probably damaging Het
Ccnd2 A T 6: 127,107,363 (GRCm39) S269T probably benign Het
Cd68 T A 11: 69,556,676 (GRCm39) T44S probably damaging Het
Clstn2 A T 9: 97,338,558 (GRCm39) I867N probably benign Het
Cmss1 C T 16: 57,136,560 (GRCm39) R104H probably benign Het
Col6a6 A G 9: 105,586,672 (GRCm39) V1783A possibly damaging Het
Dach2 T C X: 112,208,214 (GRCm39) S31P probably benign Het
Dpp8 T A 9: 64,958,761 (GRCm39) W279R probably damaging Het
Fras1 A T 5: 96,890,921 (GRCm39) I2817F possibly damaging Het
Gabrr3 G A 16: 59,281,763 (GRCm39) D373N probably benign Het
Gdf7 T C 12: 8,351,698 (GRCm39) N79S unknown Het
Gpam A G 19: 55,064,763 (GRCm39) V647A possibly damaging Het
Gpatch1 T C 7: 34,994,776 (GRCm39) T497A probably benign Het
Grin2a A T 16: 9,525,579 (GRCm39) F337L probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
H2-Aa A T 17: 34,503,390 (GRCm39) V69D possibly damaging Het
H2-M10.5 T C 17: 37,084,205 (GRCm39) Y56H probably damaging Het
Kcnu1 G A 8: 26,351,219 (GRCm39) probably null Het
Krt77 A G 15: 101,769,713 (GRCm39) S386P probably damaging Het
L3mbtl2 T A 15: 81,566,203 (GRCm39) M342K probably benign Het
Ldlrad1 A G 4: 107,075,010 (GRCm39) T186A probably benign Het
Lins1 C A 7: 66,360,385 (GRCm39) C168* probably null Het
Lrrtm3 G A 10: 63,923,928 (GRCm39) T413M probably damaging Het
Macf1 T C 4: 123,348,813 (GRCm39) D4038G probably damaging Het
Mark3 T G 12: 111,594,275 (GRCm39) N308K probably damaging Het
Mdga2 T A 12: 66,597,367 (GRCm39) Y709F possibly damaging Het
Mtus2 T A 5: 148,014,198 (GRCm39) S330R probably benign Het
Or1p1 T A 11: 74,179,762 (GRCm39) C97S probably damaging Het
Or4k15c G A 14: 50,321,916 (GRCm39) A74V possibly damaging Het
Or51a24 T A 7: 103,733,468 (GRCm39) H273L probably benign Het
Or6c76 T C 10: 129,612,242 (GRCm39) V168A probably benign Het
Ovgp1 A G 3: 105,894,068 (GRCm39) probably benign Het
P4ha2 A G 11: 54,015,836 (GRCm39) T408A probably damaging Het
Pcdh8 T G 14: 80,007,843 (GRCm39) D240A probably damaging Het
Pcyt2 T C 11: 120,502,911 (GRCm39) probably null Het
Pecr T A 1: 72,298,542 (GRCm39) I293L probably benign Het
Pogk A G 1: 166,226,402 (GRCm39) V583A possibly damaging Het
Prkg1 T C 19: 30,602,143 (GRCm39) K371R probably benign Het
Psmd2 T A 16: 20,474,335 (GRCm39) M297K possibly damaging Het
Rgs12 A G 5: 35,196,626 (GRCm39) R769G possibly damaging Het
Sgtb T A 13: 104,276,284 (GRCm39) N237K probably damaging Het
Sh3bgrl2 T C 9: 83,476,751 (GRCm39) V91A probably damaging Het
Slc4a1ap G A 5: 31,691,554 (GRCm39) probably null Het
Slc4a7 T C 14: 14,778,872 (GRCm38) V940A probably benign Het
Tep1 T C 14: 51,090,499 (GRCm39) T740A probably benign Het
Trpv2 A G 11: 62,483,059 (GRCm39) Y450C probably damaging Het
Tut7 T C 13: 59,948,054 (GRCm39) T354A probably benign Het
Tvp23a A T 16: 10,264,862 (GRCm39) D16E probably damaging Het
Twnk T C 19: 44,997,850 (GRCm39) F460L possibly damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Urb2 T C 8: 124,757,356 (GRCm39) L1021P probably damaging Het
Vps13c T C 9: 67,837,993 (GRCm39) Y1848H probably damaging Het
Vwa8 T G 14: 79,324,121 (GRCm39) N1141K probably benign Het
Yipf3 A G 17: 46,561,793 (GRCm39) Y200C probably damaging Het
Zbtb38 A G 9: 96,569,044 (GRCm39) V680A probably benign Het
Znrf3 T C 11: 5,231,347 (GRCm39) E722G probably benign Het
Zzef1 T A 11: 72,806,059 (GRCm39) L2665H 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
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
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'- AGAAGCCGTCCCTTTGACCTTTG -3'
(R):5'- GATCTTATGCAGGATCTGCCAGCC -3'

Sequencing Primer
(F):5'- AGTGACACCTGGATGTTTGG -3'
(R):5'- TGAAGATACCATCTGACATGGC -3'
Posted On 2014-04-13