Incidental Mutation 'R1938:Tnk2'
ID 213755
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 039956-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R1938 (G1)
Quality Score 162
Status Not validated
Chromosome 16
Chromosomal Location 32462699-32502311 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to A at 32482560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115123] [ENSMUST00000115124] [ENSMUST00000115125] [ENSMUST00000115126] [ENSMUST00000124585] [ENSMUST00000145627]
AlphaFold no structure available at present
Predicted Effect probably benign
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 benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000124585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137044
Predicted Effect probably benign
Transcript: ENSMUST00000145627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164358
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.8%
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: 133 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,824,795 (GRCm39) K134R possibly damaging Het
Adamts17 T C 7: 66,774,820 (GRCm39) S980P probably damaging Het
Adap2 T A 11: 80,061,508 (GRCm39) I221K probably damaging Het
Adgrv1 C T 13: 81,539,876 (GRCm39) R5681Q probably damaging Het
Adipor1 T A 1: 134,350,841 (GRCm39) L30Q probably benign Het
Agpat5 A G 8: 18,928,181 (GRCm39) T249A probably benign Het
Agxt2 G T 15: 10,392,021 (GRCm39) G329V probably damaging Het
Ankrd28 A G 14: 31,427,233 (GRCm39) V801A possibly damaging Het
Ap1g2 A G 14: 55,337,229 (GRCm39) V702A possibly damaging Het
Arid3a A G 10: 79,786,540 (GRCm39) Q429R probably damaging Het
Arsb T A 13: 93,998,658 (GRCm39) L322Q probably damaging Het
Ash1l A G 3: 88,891,729 (GRCm39) T1203A probably damaging Het
Atad2 T A 15: 57,960,101 (GRCm39) N1308Y possibly damaging Het
Atp10b A T 11: 43,121,245 (GRCm39) R969S probably benign Het
Bmp10 T C 6: 87,410,702 (GRCm39) I165T possibly damaging Het
Ccdc121rt2 C A 5: 112,597,667 (GRCm39) C71* probably null Het
Ccne1 A G 7: 37,805,702 (GRCm39) probably null Het
Cenpe A G 3: 134,953,240 (GRCm39) N1565D probably damaging Het
Chd1 A T 17: 15,982,748 (GRCm39) E1404D probably benign Het
Chd7 G A 4: 8,847,200 (GRCm39) E1648K probably damaging Het
Chodl T C 16: 78,738,314 (GRCm39) I94T possibly damaging Het
Chsy3 T C 18: 59,542,584 (GRCm39) F574S probably damaging Het
Clpb A T 7: 101,412,863 (GRCm39) I317F probably damaging Het
Cnga3 T A 1: 37,300,954 (GRCm39) V558D possibly damaging Het
Col9a1 C T 1: 24,261,554 (GRCm39) P573S probably damaging Het
Crat A T 2: 30,303,073 (GRCm39) D71E probably benign Het
Cspg4 A G 9: 56,794,385 (GRCm39) T707A probably benign Het
Ctsr T A 13: 61,310,259 (GRCm39) R132S probably benign Het
Ctu2 T C 8: 123,206,024 (GRCm39) L255P probably damaging Het
Cyp2c69 T C 19: 39,837,810 (GRCm39) Y424C probably damaging Het
Ddx27 A T 2: 166,876,029 (GRCm39) K726N probably damaging Het
Dennd4a A G 9: 64,749,772 (GRCm39) Q121R probably damaging Het
Dis3 A G 14: 99,335,026 (GRCm39) F192S probably benign Het
Ect2l C T 10: 18,020,383 (GRCm39) S487N probably benign Het
Eml1 T A 12: 108,487,655 (GRCm39) F524L possibly damaging Het
Espl1 T C 15: 102,213,477 (GRCm39) I601T probably benign Het
Fbxo40 C A 16: 36,789,713 (GRCm39) V466L probably damaging Het
Frmpd1 C T 4: 45,283,711 (GRCm39) T844M probably damaging Het
Frs2 T A 10: 116,917,011 (GRCm39) probably benign Het
Fuom G T 7: 139,679,521 (GRCm39) T133K probably benign Het
Garnl3 T A 2: 32,895,212 (GRCm39) H619L probably damaging Het
Gm4861 G T 3: 137,257,876 (GRCm39) N36K unknown Het
Gps2 G T 11: 69,806,195 (GRCm39) M153I probably benign Het
Gtf2ird1 A G 5: 134,444,099 (GRCm39) V52A probably damaging Het
Gtpbp8 A T 16: 44,565,785 (GRCm39) D137E probably benign Het
Haus4 A G 14: 54,781,733 (GRCm39) C213R probably damaging Het
Hdc T A 2: 126,448,317 (GRCm39) H142L possibly damaging Het
Hephl1 T C 9: 14,965,283 (GRCm39) D1069G possibly damaging Het
Herc6 T A 6: 57,602,926 (GRCm39) V535D probably damaging Het
Hipk3 A T 2: 104,260,533 (GRCm39) H1082Q possibly damaging Het
Hps5 A T 7: 46,422,691 (GRCm39) V513D probably damaging Het
Ifna13 T A 4: 88,562,412 (GRCm39) I71F probably damaging Het
Il1rl2 T C 1: 40,402,484 (GRCm39) I426T probably damaging Het
Irf5 A T 6: 29,536,738 (GRCm39) D483V probably benign Het
Jakmip3 A G 7: 138,621,867 (GRCm39) R256G probably damaging Het
Jazf1 T C 6: 52,754,600 (GRCm39) I159V probably damaging Het
Kmo A G 1: 175,479,154 (GRCm39) D230G possibly damaging Het
Lrrc74b A G 16: 17,371,058 (GRCm39) V213A probably benign Het
LTO1 A G 7: 144,470,205 (GRCm39) S45G probably damaging Het
Ly6g5b T C 17: 35,333,704 (GRCm39) D36G possibly damaging Het
Mab21l4 T C 1: 93,079,730 (GRCm39) *453W probably null Het
Macc1 T G 12: 119,409,466 (GRCm39) L78R probably damaging Het
Mettl4 A T 17: 95,055,285 (GRCm39) D51E possibly damaging Het
Mfap1a G A 2: 121,332,835 (GRCm39) L199F possibly damaging Het
Mmp17 G T 5: 129,679,190 (GRCm39) R363L probably damaging Het
Mrc1 G A 2: 14,324,052 (GRCm39) A1130T possibly damaging Het
Mrpl15 C T 1: 4,847,805 (GRCm39) A165T probably damaging Het
Mrpl45 G A 11: 97,206,770 (GRCm39) probably null Het
Ms4a3 C T 19: 11,613,204 (GRCm39) A85T possibly damaging Het
Mttp A T 3: 137,830,882 (GRCm39) D77E probably benign Het
Muc6 A G 7: 141,217,011 (GRCm39) L2489P probably damaging Het
Myl3 G A 9: 110,595,802 (GRCm39) E100K probably damaging Het
Nbea T A 3: 55,992,743 (GRCm39) N288Y probably damaging Het
Ncoa7 A G 10: 30,574,166 (GRCm39) V181A probably benign Het
Oat C T 7: 132,159,934 (GRCm39) V429M probably benign Het
Or2ak6 A T 11: 58,593,449 (GRCm39) *307C probably null Het
Or4x6 T G 2: 89,949,427 (GRCm39) I172L probably damaging Het
Or5d36 A T 2: 87,901,300 (GRCm39) L142Q probably damaging Het
Or5p80 T C 7: 108,230,045 (GRCm39) I282T probably benign Het
Or5w19 G A 2: 87,698,805 (GRCm39) V157I probably benign Het
Or6b13 A G 7: 139,782,144 (GRCm39) F180L probably benign Het
Or6c69b T A 10: 129,626,759 (GRCm39) K233M probably damaging Het
Or8b55 A G 9: 38,727,146 (GRCm39) T116A probably benign Het
Or8s16 T A 15: 98,211,261 (GRCm39) M57L probably damaging Het
Otof A G 5: 30,533,713 (GRCm39) S1464P probably benign Het
Otogl A T 10: 107,613,436 (GRCm39) Y2010N probably damaging Het
Pgap3 C T 11: 98,291,040 (GRCm39) probably null Het
Pgbd5 T A 8: 125,100,988 (GRCm39) K332* probably null Het
Pgs1 C T 11: 117,896,553 (GRCm39) P410L probably damaging Het
Pkhd1l1 G A 15: 44,363,434 (GRCm39) S618N probably benign Het
Plcb1 A T 2: 135,228,222 (GRCm39) D1073V probably damaging Het
Pola2 T A 19: 6,001,208 (GRCm39) T309S probably benign Het
Polg2 T A 11: 106,669,787 (GRCm39) H161L probably damaging Het
Postn T A 3: 54,285,033 (GRCm39) probably null Het
Ppt1 G T 4: 122,739,784 (GRCm39) C128F probably damaging Het
Ptpn12 G A 5: 21,198,261 (GRCm39) P678S probably damaging Het
Rcan3 A T 4: 135,139,812 (GRCm39) probably null Het
Rgs22 T C 15: 36,101,950 (GRCm39) N216S probably benign Het
Rgs7bp T A 13: 105,088,090 (GRCm39) D228V probably damaging Het
Rhobtb2 A T 14: 70,034,062 (GRCm39) S388T probably benign Het
Rnps1 C T 17: 24,639,364 (GRCm39) R138C unknown Het
Rpl38 T C 11: 114,562,602 (GRCm39) V36A probably benign Het
Rps7 G T 12: 28,681,752 (GRCm39) H126Q possibly damaging Het
Sec24b G T 3: 129,785,010 (GRCm39) Q999K possibly damaging Het
Slc19a3 A G 1: 82,997,089 (GRCm39) V373A possibly damaging Het
Spats2l T A 1: 57,924,941 (GRCm39) V113E probably benign Het
Ss18l1 A T 2: 179,705,138 (GRCm39) T377S unknown Het
Surf1 A G 2: 26,805,982 (GRCm39) F38L probably benign Het
Ticrr G A 7: 79,325,142 (GRCm39) R556H probably damaging Het
Tmem184b A G 15: 79,250,014 (GRCm39) S254P probably damaging Het
Tnfrsf4 G T 4: 156,100,692 (GRCm39) R237L possibly damaging Het
Tnks A T 8: 35,305,684 (GRCm39) D1191E probably damaging Het
Tnr C A 1: 159,722,607 (GRCm39) Y1017* probably null Het
Tomm34 A G 2: 163,902,926 (GRCm39) I128T probably benign Het
Trim2 G A 3: 84,085,099 (GRCm39) S540F possibly damaging Het
Trio A T 15: 27,732,977 (GRCm39) I2968N probably damaging Het
Ttc24 T C 3: 87,982,181 (GRCm39) E17G probably benign Het
Ttc41 A G 10: 86,612,078 (GRCm39) H1117R probably benign Het
Ttn A T 2: 76,565,752 (GRCm39) V28200D probably damaging Het
Ttn A T 2: 76,592,730 (GRCm39) S20801T possibly damaging Het
Ube3d C T 9: 86,330,840 (GRCm39) C114Y probably damaging Het
Ugt2b37 A C 5: 87,388,716 (GRCm39) L499R probably damaging Het
Vmn1r81 T C 7: 11,994,589 (GRCm39) I6M possibly damaging Het
Vmn2r97 A T 17: 19,149,593 (GRCm39) Y327F probably benign Het
Vps13b T C 15: 35,709,653 (GRCm39) S1867P probably damaging Het
Wdr11 T C 7: 129,208,331 (GRCm39) V362A probably benign Het
Zan T A 5: 137,387,201 (GRCm39) M4951L unknown Het
Zcwpw1 T A 5: 137,809,884 (GRCm39) L337Q probably damaging Het
Zfp2 A T 11: 50,790,809 (GRCm39) D411E possibly damaging Het
Zfp628 C T 7: 4,923,767 (GRCm39) T663I probably benign Het
Zfpm1 T A 8: 123,061,663 (GRCm39) probably null Het
Zfyve19 T C 2: 119,041,693 (GRCm39) S87P probably benign Het
Zswim9 T A 7: 12,994,141 (GRCm39) K672* probably null 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
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'- TGTGTTCAGGAGAGGGTCAC -3'
(R):5'- TGGGCCATGATGAATACAAACG -3'

Sequencing Primer
(F):5'- CACCTGGTCTGGGCTCAGTTTAG -3'
(R):5'- TGTGGGCTACCTACCAGG -3'
Posted On 2014-07-14