Incidental Mutation 'R6939:Tnk2'
ID 540463
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 045053-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R6939 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 32462699-32502311 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32482696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 41 (V41A)
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 damaging
Transcript: ENSMUST00000115123
AA Change: V41A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791
AA Change: V41A

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: V41A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791
AA Change: V41A

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: V41A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791
AA Change: V41A

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: V41A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791
AA Change: V41A

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: ENSMUST00000124585
AA Change: V41A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000145627
AA Change: V41A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 99% (66/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G A 15: 60,792,244 (GRCm39) P128L probably damaging Het
Acsm3 T C 7: 119,377,678 (GRCm39) V401A probably damaging Het
Arhgef11 C A 3: 87,594,227 (GRCm39) N93K probably damaging Het
C1ra G A 6: 124,489,760 (GRCm39) probably null Het
Camk2a A G 18: 61,091,226 (GRCm39) E236G probably damaging Het
Cav2 C A 6: 17,281,410 (GRCm39) D17E possibly damaging Het
Ccdc149 T C 5: 52,533,607 (GRCm39) S520G probably benign Het
Chd4 C A 6: 125,083,501 (GRCm39) H674Q probably damaging Het
Clrn2 A T 5: 45,611,096 (GRCm39) probably benign Het
Cntnap1 A C 11: 101,077,337 (GRCm39) I1000L probably damaging Het
Cyp2c67 T C 19: 39,631,778 (GRCm39) T140A possibly damaging Het
D7Ertd443e T C 7: 133,966,208 (GRCm39) probably null Het
Dcdc2c G T 12: 28,591,496 (GRCm39) Q131K probably benign Het
Dmpk T A 7: 18,822,149 (GRCm39) V369E probably damaging Het
Dnah11 A T 12: 118,070,297 (GRCm39) W1503R probably damaging Het
Dnai7 A G 6: 145,120,945 (GRCm39) F625L possibly damaging Het
Dok2 T C 14: 71,013,045 (GRCm39) V71A probably benign Het
Dqx1 A T 6: 83,036,446 (GRCm39) Q150L probably damaging Het
Extl3 A G 14: 65,304,189 (GRCm39) I740T possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat2 C T 11: 55,143,300 (GRCm39) W4183* probably null Het
Fkrp C T 7: 16,545,751 (GRCm39) R37Q probably benign Het
Frem3 A G 8: 81,341,774 (GRCm39) K1356E probably benign Het
Fus A T 7: 127,571,741 (GRCm39) probably benign Het
Gabarapl2 C A 8: 112,669,201 (GRCm39) S53* probably null Het
Gjd3 A C 11: 102,691,733 (GRCm39) M90R probably damaging Het
Gm30083 C T 14: 33,725,557 (GRCm39) probably null Het
Gm7356 T A 17: 14,221,387 (GRCm39) Y214F probably benign Het
Hexd A T 11: 121,113,164 (GRCm39) D533V probably benign Het
Ift172 G A 5: 31,414,930 (GRCm39) A1364V probably damaging Het
Ighmbp2 A T 19: 3,326,907 (GRCm39) F186Y probably damaging Het
Inpp5e C A 2: 26,297,774 (GRCm39) probably null Het
Iqcb1 A G 16: 36,660,274 (GRCm39) T146A possibly damaging Het
Kcnmb2 A G 3: 32,252,465 (GRCm39) Y222C probably damaging Het
Kdm6b A G 11: 69,297,588 (GRCm39) W284R probably damaging Het
Khdc4 T A 3: 88,593,824 (GRCm39) M71K probably damaging Het
Ksr2 T A 5: 117,903,626 (GRCm39) *952R probably null Het
Ldlrap1 C A 4: 134,495,285 (GRCm39) probably benign Het
Mpdu1 G A 11: 69,548,881 (GRCm39) probably benign Het
Mrgprh A T 17: 13,095,822 (GRCm39) T21S probably benign Het
Muc16 T A 9: 18,549,833 (GRCm39) T5487S probably benign Het
Mydgf A G 17: 56,490,737 (GRCm39) probably null Het
Napa T C 7: 15,849,182 (GRCm39) C241R possibly damaging Het
Or10ab4 C A 7: 107,654,312 (GRCm39) A41E possibly damaging Het
Or10n7-ps1 T C 9: 39,598,187 (GRCm39) T18A possibly damaging Het
Or5k17 A T 16: 58,746,648 (GRCm39) Y95* probably null Het
Pla2g4f A T 2: 120,137,782 (GRCm39) L326Q probably damaging Het
Pramel16 T C 4: 143,675,366 (GRCm39) T487A probably benign Het
Psme4 T A 11: 30,787,291 (GRCm39) Y1029N probably damaging Het
Ptprj T C 2: 90,289,858 (GRCm39) T707A possibly damaging Het
Raet1e T A 10: 22,050,256 (GRCm39) M13K possibly damaging Het
Rftn2 T C 1: 55,233,508 (GRCm39) probably null Het
Rmi1 A G 13: 58,557,169 (GRCm39) I473V probably benign Het
Rps6ka4 A G 19: 6,815,437 (GRCm39) F186L probably damaging Het
Ryr1 T A 7: 28,751,751 (GRCm39) M3672L possibly damaging Het
Smarca5 A T 8: 81,431,949 (GRCm39) C890S possibly damaging Het
Spata31d1e T A 13: 59,889,872 (GRCm39) K231N possibly damaging Het
Tdrd12 C T 7: 35,185,024 (GRCm39) probably null Het
Tecta T C 9: 42,259,293 (GRCm39) N1530S probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmem94 A G 11: 115,676,656 (GRCm39) S54G possibly damaging Het
Trpm1 A G 7: 63,918,045 (GRCm39) T462A probably benign Het
Tsg101 T C 7: 46,556,847 (GRCm39) T61A probably benign Het
Usp42 T C 5: 143,713,724 (GRCm39) N17D probably damaging Het
Zfp607a T A 7: 27,578,473 (GRCm39) C514* probably null Het
Zfp866 G T 8: 70,218,871 (GRCm39) Q250K 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
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'- AAGAAGGTGCTTTGAATGCTG -3'
(R):5'- TGAACAGCACTCTCCACCTG -3'

Sequencing Primer
(F):5'- CACAGATGGGCAAGCCTG -3'
(R):5'- TGCCTCCCACTCACAGC -3'
Posted On 2018-11-06