Incidental Mutation 'R6142:Tnk2'
ID 488639
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 044289-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R6142 (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 A at 32488917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 252 (D252E)
Ref Sequence ENSEMBL: ENSMUSP00000110779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115120] [ENSMUST00000115121] [ENSMUST00000115122] [ENSMUST00000115123] [ENSMUST00000115124] [ENSMUST00000115125] [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 damaging
Transcript: ENSMUST00000115123
AA Change: D252E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791
AA Change: D252E

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: D252E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791
AA Change: D252E

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: D252E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791
AA Change: D252E

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: D252E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791
AA Change: D252E

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: ENSMUST00000150383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168506
Predicted Effect probably benign
Transcript: ENSMUST00000145627
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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.2%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 T C 15: 98,496,303 (GRCm39) M579V probably benign Het
Agtr1b T C 3: 20,370,558 (GRCm39) D16G probably benign Het
Akap12 C A 10: 4,263,740 (GRCm39) probably null Het
Alpk2 T C 18: 65,438,456 (GRCm39) E979G possibly damaging Het
Arfgap3 T C 15: 83,234,328 (GRCm39) D8G probably damaging Het
AW551984 G T 9: 39,508,410 (GRCm39) L369I probably benign Het
Bmp8b A T 4: 123,009,043 (GRCm39) H207L probably benign Het
Cc2d2a G T 5: 43,860,540 (GRCm39) V490F probably damaging Het
Cnot6l C T 5: 96,230,837 (GRCm39) V377I probably benign Het
Col25a1 T A 3: 130,376,978 (GRCm39) probably benign Het
Crocc2 C G 1: 93,118,201 (GRCm39) Q375E possibly damaging Het
Ganc T C 2: 120,261,218 (GRCm39) probably null Het
Gm28168 C A 1: 117,875,678 (GRCm39) D102E probably benign Het
Gm8212 T C 14: 44,438,684 (GRCm39) probably null Het
Gria2 T C 3: 80,709,024 (GRCm39) T53A probably benign Het
Hipk4 G A 7: 27,228,590 (GRCm39) V347M probably damaging Het
Hmgxb3 T C 18: 61,269,309 (GRCm39) E991G probably benign Het
Hyal1 G A 9: 107,456,573 (GRCm39) R420H probably benign Het
Il5 G A 11: 53,611,805 (GRCm39) probably null Het
Kcnh7 T C 2: 62,569,704 (GRCm39) I731V possibly damaging Het
Lamb2 A T 9: 108,362,817 (GRCm39) K759* probably null Het
Lnpep A G 17: 17,786,943 (GRCm39) probably null Het
Lrch1 T C 14: 75,184,940 (GRCm39) E54G probably damaging Het
Msl3l2 A G 10: 55,991,461 (GRCm39) D62G possibly damaging Het
Mslnl T C 17: 25,963,531 (GRCm39) L339P probably damaging Het
Nfe2l2 T C 2: 75,509,761 (GRCm39) I20V probably damaging Het
Pgm5 A C 19: 24,801,772 (GRCm39) I152S probably damaging Het
Plcg2 C A 8: 118,312,010 (GRCm39) T434K probably benign Het
Prrc2c T C 1: 162,537,956 (GRCm39) E558G unknown Het
Ranbp3 T C 17: 56,993,018 (GRCm39) V12A probably benign Het
Rgsl1 A G 1: 153,687,984 (GRCm39) V635A probably benign Het
Rpap2 T C 5: 107,746,164 (GRCm39) V14A probably benign Het
Rxrg G T 1: 167,460,191 (GRCm39) A341S possibly damaging Het
Sbf2 A G 7: 109,948,182 (GRCm39) S1177P probably damaging Het
Sema6a T C 18: 47,414,266 (GRCm39) T498A probably benign Het
Slc13a4 G A 6: 35,278,718 (GRCm39) A57V probably damaging Het
Slc6a3 A T 13: 73,692,902 (GRCm39) D174V probably benign Het
Spart T G 3: 55,024,669 (GRCm39) V88G probably damaging Het
Tanc1 A T 2: 59,663,566 (GRCm39) R1108* probably null Het
Tas2r140 C T 6: 133,032,698 (GRCm39) G20E probably damaging Het
Tdrd6 A G 17: 43,940,373 (GRCm39) V225A probably benign Het
Tmem168 C A 6: 13,591,368 (GRCm39) A99S probably benign Het
Tpsg1 A T 17: 25,591,460 (GRCm39) H20L probably benign Het
Tram1l1 T C 3: 124,115,092 (GRCm39) F84S probably damaging Het
Vmn2r12 T A 5: 109,240,763 (GRCm39) I117L probably benign Het
Zfp148 T C 16: 33,315,829 (GRCm39) L219S possibly damaging Het
Zfp40 C A 17: 23,395,311 (GRCm39) E425D probably benign Het
Zfp773 T C 7: 7,135,481 (GRCm39) T372A 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
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
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'- TTGCCTTTGAGAGAGTGGCATC -3'
(R):5'- ATCTGCTGAGACTGGAGTGG -3'

Sequencing Primer
(F):5'- CTTTGAGAGAGTGGCATCGATCTACC -3'
(R):5'- TGGAGCTTGGGCCCTACAAG -3'
Posted On 2017-10-10