Incidental Mutation 'R4751:Tnk2'
ID 357640
Institutional Source Beutler Lab
Gene Symbol Tnk2
Ensembl Gene ENSMUSG00000022791
Gene Name tyrosine kinase, non-receptor, 2
Synonyms ACK1, Ack, P21cdc42Hs kinase, Pyk1, activated p21cdc42Hs kinase
MMRRC Submission 041970-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.332) question?
Stock # R4751 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 32643874-32683493 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32679857 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 158 (C158R)
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: C158R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110773
Gene: ENSMUSG00000022791
AA Change: C158R

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: C173R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110774
Gene: ENSMUSG00000022791
AA Change: C173R

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 benign
Transcript: ENSMUST00000115123
AA Change: C648R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791
AA Change: C648R

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
AA Change: C663R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791
AA Change: C663R

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
AA Change: C648R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791
AA Change: C648R

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
AA Change: C663R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791
AA Change: C663R

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: ENSMUST00000131238
SMART Domains Protein: ENSMUSP00000129382
Gene: ENSMUSG00000022791

DomainStartEndE-ValueType
Pfam:GTPase_binding 1 24 1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152361
AA Change: C158R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125905
Gene: ENSMUSG00000022791
AA Change: C158R

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
Meta Mutation Damage Score 0.0634 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 95% (124/131)
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: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A T 7: 128,237,086 (GRCm38) C112S probably benign Het
Abca13 G A 11: 9,277,973 (GRCm38) probably null Het
Abca14 A G 7: 120,312,177 (GRCm38) E1328G probably benign Het
Abca9 T A 11: 110,130,570 (GRCm38) I1105F probably benign Het
Abr T C 11: 76,456,608 (GRCm38) N396D possibly damaging Het
Aftph A C 11: 20,727,074 (GRCm38) C178W probably damaging Het
Akr1c14 T C 13: 4,065,338 (GRCm38) F89S possibly damaging Het
Ank3 C T 10: 69,986,206 (GRCm38) A1518V probably benign Het
Arfgap2 T G 2: 91,267,368 (GRCm38) S143R probably benign Het
Aspdh T A 7: 44,467,205 (GRCm38) C107* probably null Het
Asphd2 C A 5: 112,391,746 (GRCm38) G74W probably damaging Het
AU040320 G A 4: 126,854,466 (GRCm38) probably null Het
B3glct T A 5: 149,725,402 (GRCm38) probably null Het
Bcl9l A G 9: 44,506,803 (GRCm38) K646R probably damaging Het
Brat1 T G 5: 140,718,296 (GRCm38) L768R probably damaging Het
Btbd18 T A 2: 84,667,921 (GRCm38) Y634* probably null Het
Bub1 T A 2: 127,823,938 (GRCm38) probably benign Het
Carns1 A T 19: 4,166,418 (GRCm38) D588E probably damaging Het
Cast T C 13: 74,746,047 (GRCm38) K141E probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 (GRCm38) probably benign Het
Chsy3 T C 18: 59,175,800 (GRCm38) S42P possibly damaging Het
Clca1 A T 3: 145,004,848 (GRCm38) F865I possibly damaging Het
Clec4f T A 6: 83,645,282 (GRCm38) M526L possibly damaging Het
Clnk T C 5: 38,720,913 (GRCm38) E301G probably benign Het
Colgalt2 T A 1: 152,489,876 (GRCm38) I309N probably benign Het
Cyp2e1 A T 7: 140,774,716 (GRCm38) K326* probably null Het
Dagla T A 19: 10,250,394 (GRCm38) T717S probably benign Het
Dnajc11 G A 4: 151,968,542 (GRCm38) R141H probably benign Het
Dst A G 1: 34,191,884 (GRCm38) K2853E probably benign Het
Eif4g1 A G 16: 20,686,515 (GRCm38) K1208E possibly damaging Het
Elane A G 10: 79,886,791 (GRCm38) R48G probably benign Het
Fbxo30 T A 10: 11,290,195 (GRCm38) N220K probably benign Het
Fbxo33 A T 12: 59,200,928 (GRCm38) probably benign Het
Fetub G A 16: 22,937,895 (GRCm38) V169I probably benign Het
Gm13762 A G 2: 88,973,133 (GRCm38) C253R probably damaging Het
Gm5861 T A 5: 11,186,491 (GRCm38) Y138N probably damaging Het
Gpx6 A C 13: 21,317,064 (GRCm38) Q107H probably damaging Het
Hist2h2bb A T 3: 96,269,151 (GRCm38) probably benign Het
Homer3 A T 8: 70,285,434 (GRCm38) I19F probably damaging Het
Hspa4 C T 11: 53,284,199 (GRCm38) V144I probably benign Het
Icos C T 1: 60,993,717 (GRCm38) S25L probably benign Het
Ifna4 A G 4: 88,841,948 (GRCm38) T30A probably benign Het
Ino80b C T 6: 83,124,750 (GRCm38) G46D probably damaging Het
Kpna2 T G 11: 106,992,664 (GRCm38) I100L possibly damaging Het
Krt71 C T 15: 101,735,466 (GRCm38) G446R probably damaging Het
Krtap31-2 A G 11: 99,936,576 (GRCm38) N78S possibly damaging Het
Lman1 A G 18: 65,998,434 (GRCm38) S132P probably benign Het
Lmna T C 3: 88,486,533 (GRCm38) Q246R possibly damaging Het
Lrp10 T A 14: 54,468,592 (GRCm38) V413E probably damaging Het
Macf1 A C 4: 123,471,650 (GRCm38) I1541S probably benign Het
Med24 A G 11: 98,706,432 (GRCm38) L874P probably damaging Het
Mgll T A 6: 88,725,111 (GRCm38) probably benign Het
Mrpl37 A T 4: 107,057,475 (GRCm38) L364Q probably damaging Het
Mrpl47 C T 3: 32,728,441 (GRCm38) R209H probably benign Het
Muc5ac T C 7: 141,817,601 (GRCm38) F3285L probably benign Het
Mylk A G 16: 34,879,169 (GRCm38) R301G probably benign Het
Nacad A G 11: 6,605,726 (GRCm38) L8P unknown Het
Ncf1 T A 5: 134,229,545 (GRCm38) H8L probably damaging Het
Ncoa3 T A 2: 166,069,903 (GRCm38) M1383K possibly damaging Het
Necab2 C T 8: 119,467,598 (GRCm38) S271L probably benign Het
Nme8 A T 13: 19,675,638 (GRCm38) probably null Het
Nsrp1 T G 11: 77,076,719 (GRCm38) T16P possibly damaging Het
Obox3 A T 7: 15,625,692 (GRCm38) probably null Het
Olfr1211 T A 2: 88,929,914 (GRCm38) I134F probably damaging Het
Olfr1416 C A 1: 92,479,983 (GRCm38) A213S probably benign Het
Olfr1428 T A 19: 12,109,177 (GRCm38) Y123F probably damaging Het
Olfr355 T C 2: 36,927,583 (GRCm38) H177R probably damaging Het
Olfr667 A T 7: 104,916,410 (GRCm38) Y295* probably null Het
Osbpl3 C G 6: 50,300,997 (GRCm38) E790Q possibly damaging Het
Osmr A T 15: 6,842,852 (GRCm38) W254R probably damaging Het
Otoa T C 7: 121,132,924 (GRCm38) probably benign Het
Pagr1a A T 7: 127,015,379 (GRCm38) L218H probably damaging Het
Pcdha11 G A 18: 37,006,944 (GRCm38) G542D probably damaging Het
Pck2 T A 14: 55,542,561 (GRCm38) I54N probably damaging Het
Ppif T C 14: 25,699,499 (GRCm38) V173A probably damaging Het
Ptgs2 T A 1: 150,104,020 (GRCm38) L292H probably damaging Het
Ptpru A G 4: 131,802,586 (GRCm38) S604P probably damaging Het
Qrfpr T C 3: 36,182,622 (GRCm38) H210R possibly damaging Het
Rasgrf1 A G 9: 90,012,866 (GRCm38) H1113R probably damaging Het
Rasgrf1 A G 9: 89,910,118 (GRCm38) T41A probably damaging Het
Rhoc T A 3: 104,792,647 (GRCm38) I80N probably damaging Het
Riok3 A G 18: 12,153,983 (GRCm38) N472S probably benign Het
Rnf213 A G 11: 119,445,745 (GRCm38) Y3314C probably benign Het
Shank2 C T 7: 144,409,468 (GRCm38) T264I probably damaging Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Sipa1l1 A G 12: 82,341,194 (GRCm38) I65V probably benign Het
Slc22a19 T C 19: 7,691,145 (GRCm38) K291R possibly damaging Het
Slc22a20 T C 19: 5,980,460 (GRCm38) I315V probably benign Het
Slc44a1 A T 4: 53,560,973 (GRCm38) D563V probably damaging Het
Smchd1 A T 17: 71,391,468 (GRCm38) H1104Q probably benign Het
Spcs2 A T 7: 99,844,769 (GRCm38) probably null Het
Sptb T C 12: 76,627,110 (GRCm38) E301G probably benign Het
Stum T C 1: 180,442,669 (GRCm38) D86G probably damaging Het
Sufu A T 19: 46,483,649 (GRCm38) D449V probably benign Het
Sun5 T C 2: 153,866,016 (GRCm38) probably null Het
Tbc1d15 T A 10: 115,202,587 (GRCm38) I574F probably damaging Het
Tert G A 13: 73,628,063 (GRCm38) S311N possibly damaging Het
Tiparp T C 3: 65,552,804 (GRCm38) Y507H probably damaging Het
Tpgs1 T C 10: 79,675,620 (GRCm38) S199P possibly damaging Het
Trdmt1 G T 2: 13,544,653 (GRCm38) probably benign Het
Trp53bp1 T A 2: 121,227,809 (GRCm38) D944V probably damaging Het
Tsc1 T A 2: 28,679,081 (GRCm38) I720N probably damaging Het
Ttn T C 2: 76,897,581 (GRCm38) probably benign Het
Ttn T C 2: 76,709,605 (GRCm38) T34346A probably benign Het
Uba7 T A 9: 107,979,805 (GRCm38) C686S possibly damaging Het
Ush2a T A 1: 188,850,087 (GRCm38) F3782L probably damaging Het
Vars2 A T 17: 35,659,343 (GRCm38) H745Q possibly damaging Het
Vgf T A 5: 137,032,401 (GRCm38) D472E probably damaging Het
Vmn2r15 T C 5: 109,286,754 (GRCm38) M695V probably benign Het
Vps41 A T 13: 18,811,622 (GRCm38) D208V probably damaging Het
Vta1 C T 10: 14,655,816 (GRCm38) A272T probably benign Het
Wnk4 G A 11: 101,276,362 (GRCm38) probably benign Het
Zfp507 T C 7: 35,794,382 (GRCm38) K412R probably damaging Het
Zfp768 A G 7: 127,344,762 (GRCm38) F65L possibly damaging Het
Zfp956 T C 6: 47,963,576 (GRCm38) S290P probably benign Het
Other mutations in Tnk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Tnk2 APN 16 32,680,680 (GRCm38) missense probably damaging 0.99
IGL02212:Tnk2 APN 16 32,680,142 (GRCm38) missense probably damaging 0.97
IGL02445:Tnk2 APN 16 32,675,590 (GRCm38) missense probably benign 0.00
junior UTSW 16 32,680,085 (GRCm38) missense probably benign
Rookie UTSW 16 32,679,785 (GRCm38) missense probably damaging 1.00
IGL02799:Tnk2 UTSW 16 32,665,881 (GRCm38) splice site probably benign
R0310:Tnk2 UTSW 16 32,680,590 (GRCm38) missense probably benign
R0989:Tnk2 UTSW 16 32,680,358 (GRCm38) missense probably damaging 1.00
R1556:Tnk2 UTSW 16 32,670,919 (GRCm38) critical splice donor site probably null
R1851:Tnk2 UTSW 16 32,679,462 (GRCm38) missense probably damaging 1.00
R1854:Tnk2 UTSW 16 32,680,142 (GRCm38) missense probably damaging 0.97
R1938:Tnk2 UTSW 16 32,663,742 (GRCm38) start gained probably benign
R2137:Tnk2 UTSW 16 32,670,802 (GRCm38) splice site probably null
R2189:Tnk2 UTSW 16 32,671,421 (GRCm38) missense probably damaging 1.00
R3772:Tnk2 UTSW 16 32,679,822 (GRCm38) missense probably damaging 1.00
R4037:Tnk2 UTSW 16 32,670,796 (GRCm38) missense probably damaging 1.00
R4413:Tnk2 UTSW 16 32,669,501 (GRCm38) missense probably damaging 1.00
R4878:Tnk2 UTSW 16 32,679,630 (GRCm38) missense probably damaging 1.00
R4983:Tnk2 UTSW 16 32,680,465 (GRCm38) missense probably damaging 1.00
R5063:Tnk2 UTSW 16 32,670,850 (GRCm38) missense probably damaging 1.00
R5541:Tnk2 UTSW 16 32,669,523 (GRCm38) missense probably benign 0.07
R5759:Tnk2 UTSW 16 32,680,664 (GRCm38) missense probably benign
R5888:Tnk2 UTSW 16 32,671,367 (GRCm38) missense probably damaging 1.00
R6142:Tnk2 UTSW 16 32,670,099 (GRCm38) missense probably damaging 1.00
R6372:Tnk2 UTSW 16 32,679,785 (GRCm38) missense probably damaging 1.00
R6717:Tnk2 UTSW 16 32,670,869 (GRCm38) missense probably damaging 1.00
R6939:Tnk2 UTSW 16 32,663,878 (GRCm38) missense probably damaging 1.00
R7157:Tnk2 UTSW 16 32,681,168 (GRCm38) missense probably damaging 1.00
R7292:Tnk2 UTSW 16 32,680,800 (GRCm38) missense probably benign
R7362:Tnk2 UTSW 16 32,675,520 (GRCm38) critical splice acceptor site probably null
R7477:Tnk2 UTSW 16 32,677,891 (GRCm38) splice site probably null
R7558:Tnk2 UTSW 16 32,680,085 (GRCm38) missense probably benign
R7665:Tnk2 UTSW 16 32,680,526 (GRCm38) missense probably damaging 1.00
R7731:Tnk2 UTSW 16 32,670,134 (GRCm38) missense possibly damaging 0.69
R7867:Tnk2 UTSW 16 32,681,235 (GRCm38) missense probably damaging 0.99
R8011:Tnk2 UTSW 16 32,668,365 (GRCm38) missense probably benign 0.00
R8167:Tnk2 UTSW 16 32,680,262 (GRCm38) missense probably damaging 1.00
R8738:Tnk2 UTSW 16 32,665,900 (GRCm38) missense probably damaging 1.00
R9241:Tnk2 UTSW 16 32,670,098 (GRCm38) missense probably damaging 1.00
R9267:Tnk2 UTSW 16 32,675,671 (GRCm38) missense probably damaging 1.00
R9504:Tnk2 UTSW 16 32,680,143 (GRCm38) missense possibly damaging 0.94
R9643:Tnk2 UTSW 16 32,670,200 (GRCm38) missense probably damaging 1.00
R9786:Tnk2 UTSW 16 32,680,057 (GRCm38) nonsense probably null
X0063:Tnk2 UTSW 16 32,670,850 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCACACTCATCGACTTCGG -3'
(R):5'- CTGGAAAATCTCTGCAGTCTGC -3'

Sequencing Primer
(F):5'- ATCGACTTCGGTGAGGAGC -3'
(R):5'- AGTCTGCACTGAGCTGGG -3'
Posted On 2015-11-11