Incidental Mutation 'R1851:Tnk2'
ID 208141
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 039875-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R1851 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 32462699-32502311 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 32498280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 26 (P26Q)
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 damaging
Transcript: ENSMUST00000115120
AA Change: P26Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110773
Gene: ENSMUSG00000022791
AA Change: P26Q

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: P41Q

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110774
Gene: ENSMUSG00000022791
AA Change: P41Q

DomainStartEndE-ValueType
Pfam:GTPase_binding 1 24 4.5e-9 PFAM
low complexity region 27 34 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115122
AA Change: P26Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000115123
AA Change: P516Q

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791
AA Change: P516Q

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 possibly damaging
Transcript: ENSMUST00000115124
AA Change: P531Q

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791
AA Change: P531Q

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 possibly damaging
Transcript: ENSMUST00000115125
AA Change: P516Q

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791
AA Change: P516Q

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 possibly damaging
Transcript: ENSMUST00000115126
AA Change: P531Q

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791
AA Change: P531Q

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: ENSMUST00000131238
AA Change: P26Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129382
Gene: ENSMUSG00000022791
AA Change: P26Q

DomainStartEndE-ValueType
Pfam:GTPase_binding 1 24 1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152361
AA Change: P26Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125905
Gene: ENSMUSG00000022791
AA Change: P26Q

DomainStartEndE-ValueType
SCOP:d1jo8a_ 8 38 2e-3 SMART
Pfam:GTPase_binding 39 106 2.8e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232650
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.3%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik A G 12: 18,583,687 (GRCm39) E225G possibly damaging Het
Abcb7 T C X: 103,349,005 (GRCm39) M153V probably benign Het
Abi1 A T 2: 22,840,276 (GRCm39) V329D possibly damaging Het
Ablim3 G A 18: 61,982,466 (GRCm39) H160Y probably benign Het
Acox3 A T 5: 35,766,406 (GRCm39) D624V possibly damaging Het
Adam6b A G 12: 113,455,442 (GRCm39) D753G probably benign Het
Ago1 C A 4: 126,333,788 (GRCm39) R771L probably benign Het
Aktip A G 8: 91,852,505 (GRCm39) V217A possibly damaging Het
Ankk1 A C 9: 49,327,150 (GRCm39) H676Q probably benign Het
Arl1 G C 10: 88,569,408 (GRCm39) probably benign Het
Asxl3 T A 18: 22,650,796 (GRCm39) D928E probably damaging Het
AW209491 T C 13: 14,811,318 (GRCm39) V57A possibly damaging Het
B3galt4 G T 17: 34,169,885 (GRCm39) Q118K probably benign Het
Ccdc187 A T 2: 26,166,080 (GRCm39) M783K probably benign Het
Cdon T G 9: 35,394,454 (GRCm39) M900R probably damaging Het
Ceacam5 G A 7: 17,448,835 (GRCm39) W67* probably null Het
Chd5 A G 4: 152,462,727 (GRCm39) S1356G probably damaging Het
Chil3 C T 3: 106,056,117 (GRCm39) probably null Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cntn1 C T 15: 92,203,021 (GRCm39) R768C probably damaging Het
Col6a3 T A 1: 90,735,256 (GRCm39) I798F possibly damaging Het
Cpxcr1 T A X: 115,387,758 (GRCm39) L223* probably null Het
Cpz C A 5: 35,659,902 (GRCm39) R581L possibly damaging Het
Cxcr2 A G 1: 74,198,438 (GRCm39) I311V probably benign Het
Cym T A 3: 107,126,030 (GRCm39) I78F probably benign Het
Defb8 A T 8: 19,495,899 (GRCm39) S54T probably benign Het
Dennd4a A G 9: 64,769,312 (GRCm39) T433A probably damaging Het
Dhx29 A G 13: 113,084,815 (GRCm39) T678A probably damaging Het
Dspp T C 5: 104,321,951 (GRCm39) probably null Het
Enkur G T 2: 21,193,988 (GRCm39) A195E probably benign Het
Ero1b T A 13: 12,619,292 (GRCm39) S429T possibly damaging Het
Fh1 A G 1: 175,435,452 (GRCm39) S344P probably damaging Het
Flnc G T 6: 29,443,478 (GRCm39) G553V probably damaging Het
Fmo1 A T 1: 162,657,554 (GRCm39) L529* probably null Het
Frem1 C A 4: 82,868,737 (GRCm39) V1415F probably damaging Het
Gatb T G 3: 85,526,184 (GRCm39) L354R probably damaging Het
Gdpgp1 A T 7: 79,888,349 (GRCm39) N127Y probably damaging Het
Gpat2 A G 2: 127,276,739 (GRCm39) T648A possibly damaging Het
Grk6 C T 13: 55,599,591 (GRCm39) R225* probably null Het
Hells A T 19: 38,948,120 (GRCm39) Q682L probably null Het
Hspa5 T A 2: 34,664,690 (GRCm39) N381K possibly damaging Het
Ighmbp2 T C 19: 3,312,075 (GRCm39) N893S probably benign Het
Ipo11 A T 13: 106,948,765 (GRCm39) V914E possibly damaging Het
Lars1 T C 18: 42,345,673 (GRCm39) N1001S probably benign Het
Lats2 A G 14: 57,934,912 (GRCm39) L606P probably damaging Het
Map4k1 T C 7: 28,699,209 (GRCm39) Y521H probably benign Het
Marchf11 T A 15: 26,387,916 (GRCm39) V257E probably damaging Het
Med23 G A 10: 24,786,768 (GRCm39) probably null Het
Meltf A G 16: 31,715,395 (GRCm39) D696G probably benign Het
Ms4a7 T A 19: 11,301,788 (GRCm39) M212L probably benign Het
Mx1 A T 16: 97,249,403 (GRCm39) L608Q probably damaging Het
Myh1 T C 11: 67,095,224 (GRCm39) Y195H probably damaging Het
Napb G T 2: 148,548,909 (GRCm39) H110Q probably benign Het
Ngly1 C T 14: 16,260,585 (GRCm38) P90S probably damaging Het
Nlrp1b T A 11: 71,073,442 (GRCm39) I134L possibly damaging Het
Nup210 A G 6: 90,993,036 (GRCm39) L1017P probably damaging Het
Nup85 T A 11: 115,472,643 (GRCm39) I233N probably damaging Het
Obsl1 A G 1: 75,469,537 (GRCm39) V965A probably damaging Het
Or4c12 A C 2: 89,774,158 (GRCm39) Y100* probably null Het
Or4f6 T C 2: 111,839,036 (GRCm39) D165G probably benign Het
Or6c5c T C 10: 129,299,370 (GRCm39) L275P probably damaging Het
Pak1ip1 A G 13: 41,164,708 (GRCm39) T264A possibly damaging Het
Pard6g C T 18: 80,160,357 (GRCm39) R157C probably damaging Het
Pcdhb7 A T 18: 37,475,631 (GRCm39) T256S possibly damaging Het
Phrf1 T C 7: 140,820,831 (GRCm39) F153L probably damaging Het
Pigw A T 11: 84,768,874 (GRCm39) F152I probably damaging Het
Pip4k2c A G 10: 127,036,744 (GRCm39) S222P probably damaging Het
Pjvk A G 2: 76,487,775 (GRCm39) probably null Het
Plxnd1 C T 6: 115,940,875 (GRCm39) V1355M probably damaging Het
Pramel26 T C 4: 143,539,396 (GRCm39) I32M probably benign Het
Prss22 G A 17: 24,215,288 (GRCm39) P163S probably damaging Het
Prune2 A G 19: 17,176,503 (GRCm39) I154V probably damaging Het
Rapgef6 T A 11: 54,533,637 (GRCm39) D362E probably benign Het
Retreg2 A G 1: 75,123,319 (GRCm39) K416E probably benign Het
Scn7a T C 2: 66,510,635 (GRCm39) I1256V probably benign Het
Sema4d A G 13: 51,865,258 (GRCm39) V362A possibly damaging Het
Septin4 T A 11: 87,459,741 (GRCm39) D496E probably damaging Het
Slc25a34 G A 4: 141,349,579 (GRCm39) T192I probably benign Het
Tacc3 G T 5: 33,825,544 (GRCm39) V425L probably benign Het
Tfdp2 A T 9: 96,179,762 (GRCm39) K125I probably damaging Het
Tjp2 C T 19: 24,076,899 (GRCm39) R952Q possibly damaging Het
Tk2 G T 8: 104,975,077 (GRCm39) S30* probably null Het
Tmem74 A T 15: 43,730,559 (GRCm39) D161E probably benign Het
Tmprss9 G A 10: 80,728,119 (GRCm39) V570M probably damaging Het
Tnpo2 T G 8: 85,778,401 (GRCm39) V610G probably damaging Het
Trim37 T C 11: 87,109,132 (GRCm39) F953S probably damaging Het
U2surp T A 9: 95,364,150 (GRCm39) K589* probably null Het
Usp2 G A 9: 43,987,263 (GRCm39) R187H probably benign Het
Vmn2r1 C T 3: 64,008,926 (GRCm39) T535I probably benign Het
Wdr20rt T A 12: 65,273,925 (GRCm39) S463T possibly damaging Het
Zbtb25 C A 12: 76,396,488 (GRCm39) G245W probably damaging Het
Zc3h14 T A 12: 98,726,613 (GRCm39) L27* probably null Het
Zfp2 T C 11: 50,791,915 (GRCm39) K43E probably benign Het
Zfp268 T G 4: 145,350,820 (GRCm39) probably benign Het
Zfp654 A G 16: 64,605,491 (GRCm39) Y904H probably benign 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
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'- TTCTGCAGAGAAGGTTCTGTCC -3'
(R):5'- AGTCGATGAGTGTGACCTCAC -3'

Sequencing Primer
(F):5'- CAGAGAAGGTTCTGTCCTGTTTGAG -3'
(R):5'- GAGTGTGACCTCACCCCCAC -3'
Posted On 2014-06-23