Incidental Mutation 'R7477:Tnk2'
ID 628203
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 045551-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R7477 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 32462699-32502311 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 32496709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125905 (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 null
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 null
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 null
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: 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: 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: ENSMUST00000131238
SMART Domains Protein: ENSMUSP00000129382
Gene: ENSMUSG00000022791

DomainStartEndE-ValueType
Pfam:GTPase_binding 1 24 1e-9 PFAM
Predicted Effect probably null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 G T 5: 35,749,447 (GRCm39) E191* probably null Het
Adam26a T A 8: 44,022,107 (GRCm39) E461V probably damaging Het
Adamtsl1 G A 4: 86,333,888 (GRCm39) R1539Q probably damaging Het
Adipor2 A T 6: 119,338,883 (GRCm39) H123Q probably benign Het
Akap13 C T 7: 75,398,995 (GRCm39) S2691L probably benign Het
Aldh1l1 T C 6: 90,575,369 (GRCm39) probably null Het
Ankrd11 A T 8: 123,621,124 (GRCm39) S909R possibly damaging Het
Bop1 T C 15: 76,339,526 (GRCm39) E273G probably damaging Het
Car1 G A 3: 14,841,343 (GRCm39) H97Y probably damaging Het
Casp14 T C 10: 78,550,138 (GRCm39) N170S probably benign Het
Ccdc158 A T 5: 92,798,555 (GRCm39) L382M probably damaging Het
Ccdc18 A C 5: 108,368,716 (GRCm39) Q1279H probably damaging Het
Cdh18 A G 15: 23,410,811 (GRCm39) N432S probably benign Het
Ctdp1 T C 18: 80,483,929 (GRCm39) probably null Het
Dhx30 A G 9: 109,916,208 (GRCm39) I691T probably damaging Het
Dnah9 A G 11: 65,883,557 (GRCm39) I2562T probably damaging Het
Dsp A T 13: 38,356,839 (GRCm39) I240F probably damaging Het
Ell T C 8: 71,037,868 (GRCm39) S308P probably benign Het
Elmo1 A G 13: 20,469,489 (GRCm39) D26G Het
Fam171a1 T C 2: 3,226,676 (GRCm39) V603A probably benign Het
Fam83e G A 7: 45,378,404 (GRCm39) G476D probably damaging Het
Farp2 A G 1: 93,508,750 (GRCm39) probably null Het
Fcer1a C T 1: 173,048,851 (GRCm39) probably null Het
Gpr179 G T 11: 97,226,665 (GRCm39) T1830K possibly damaging Het
Grin3a G A 4: 49,719,278 (GRCm39) P823S probably damaging Het
Heatr4 T A 12: 84,026,604 (GRCm39) I218F probably damaging Het
Il36rn T A 2: 24,169,704 (GRCm39) Y21* probably null Het
Jakmip1 A G 5: 37,330,915 (GRCm39) T532A probably benign Het
Klf11 A G 12: 24,703,562 (GRCm39) D16G probably benign Het
Lrp1 T A 10: 127,404,789 (GRCm39) I1971F probably damaging Het
Lrrc9 T A 12: 72,550,301 (GRCm39) probably null Het
Lrrk2 C T 15: 91,696,528 (GRCm39) L2439F probably damaging Het
Lypd10 A G 7: 24,413,673 (GRCm39) T230A probably benign Het
Mapk14 G A 17: 28,964,052 (GRCm39) D313N probably damaging Het
Max A T 12: 76,999,960 (GRCm39) S52T probably benign Het
Mrpl23 A G 7: 142,091,018 (GRCm39) R80G possibly damaging Het
Muc5ac C A 7: 141,370,019 (GRCm39) N3186K possibly damaging Het
Mylk2 G A 2: 152,762,261 (GRCm39) V511I probably damaging Het
Mypn T C 10: 62,961,500 (GRCm39) M1031V possibly damaging Het
Nbeal1 A G 1: 60,300,743 (GRCm39) T1488A probably benign Het
Ncbp1 A T 4: 46,157,897 (GRCm39) E378D probably damaging Het
Nedd9 A T 13: 41,471,956 (GRCm39) D174E probably benign Het
Nid2 T A 14: 19,856,041 (GRCm39) D1255E probably benign Het
Nlrc3 A G 16: 3,782,675 (GRCm39) C261R probably damaging Het
Or5w22 A G 2: 87,362,431 (GRCm39) N18S probably benign Het
Pgam1 T A 19: 41,905,255 (GRCm39) H196Q probably damaging Het
Pja2 A C 17: 64,616,640 (GRCm39) V85G possibly damaging Het
Pkd2 G A 5: 104,631,108 (GRCm39) V511M probably benign Het
Ppp2cb T A 8: 34,105,502 (GRCm39) S171T probably benign Het
Prkab2 T C 3: 97,566,063 (GRCm39) F45S probably damaging Het
Rabep2 A T 7: 126,043,990 (GRCm39) probably null Het
Rnf41 T A 10: 128,271,303 (GRCm39) I71N probably damaging Het
Slc5a7 G A 17: 54,588,787 (GRCm39) P287S probably damaging Het
Smc6 A G 12: 11,321,808 (GRCm39) D25G probably benign Het
Sptb A T 12: 76,675,339 (GRCm39) L225Q probably damaging Het
Tenm4 A C 7: 96,495,015 (GRCm39) I1148L probably damaging Het
Trank1 G A 9: 111,194,025 (GRCm39) S683N probably benign Het
Trp53bp1 A C 2: 121,066,827 (GRCm39) V633G probably benign Het
Ugt2a3 T C 5: 87,484,479 (GRCm39) K182E possibly damaging Het
Uncx A T 5: 139,533,017 (GRCm39) T361S probably benign Het
Vmn2r11 A T 5: 109,207,214 (GRCm39) N35K possibly damaging Het
Vmn2r4 C A 3: 64,305,850 (GRCm39) R524L probably benign Het
Vmn2r5 C T 3: 64,399,060 (GRCm39) V640M probably damaging Het
Washc4 T C 10: 83,410,307 (GRCm39) Y632H probably damaging Het
Xkr6 T C 14: 63,844,129 (GRCm39) S51P possibly damaging Het
Zer1 C A 2: 29,997,988 (GRCm39) K408N probably null Het
Znhit2 A G 19: 6,112,501 (GRCm39) 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
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
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'- CTTTGTATTATCCCCTGGACAATCAG -3'
(R):5'- CTGTCCCCAGAGTACAACAG -3'

Sequencing Primer
(F):5'- ACAATCAGGAGGGGTGTGTGTG -3'
(R):5'- TACAACAGCAGGCTCAGGGTG -3'
Posted On 2020-02-05