Mutagenetix > Incidental Mutation

Incidental Mutation 'R8011:Tnk2'

616923

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R8011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32643874-32683493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32668365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 127 (R127C)

Ref Sequence

ENSEMBL: ENSMUSP00000110777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115120] [ENSMUST00000115121] [ENSMUST00000115122] [ENSMUST00000115123] [ENSMUST00000115124] [ENSMUST00000115125] [ENSMUST00000115126] [ENSMUST00000124585] [ENSMUST00000131238] [ENSMUST00000145627] [ENSMUST00000152361]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000115120

SMART Domains

Protein: ENSMUSP00000110773
Gene: ENSMUSG00000022791

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: R127C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791
AA Change: R127C

Domain	Start	End	E-Value	Type
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: R127C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791
AA Change: R127C

Domain	Start	End	E-Value	Type
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: R127C

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791
AA Change: R127C

Domain	Start	End	E-Value	Type
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: R127C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791
AA Change: R127C

Domain	Start	End	E-Value	Type
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: ENSMUST00000124585

Predicted Effect

probably benign
Transcript: ENSMUST00000131238

SMART Domains

Protein: ENSMUSP00000129382
Gene: ENSMUSG00000022791

Domain	Start	End	E-Value	Type
Pfam:GTPase_binding	1	24	1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145627

Predicted Effect

probably benign
Transcript: ENSMUST00000152361

SMART Domains

Protein: ENSMUSP00000125905
Gene: ENSMUSG00000022791

Domain	Start	End	E-Value	Type
SCOP:d1jo8a_	8	38	2e-3	SMART
Pfam:GTPase_binding	39	106	2.8e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (46/46)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	T	9: 124,293,899	E132K		Het
Acss2	T	C	2: 155,555,957	I313T	possibly damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Ankrd27	T	C	7: 35,616,881	V524A	probably benign	Het
Cacna1e	T	C	1: 154,465,822	I1209V	probably benign	Het
Cntn3	A	T	6: 102,437,899	I29N	possibly damaging	Het
Col5a1	G	A	2: 27,980,521		probably benign	Het
Cttnbp2	G	C	6: 18,426,093	A762G	possibly damaging	Het
Edc3	C	A	9: 57,713,376		probably benign	Het
Egflam	A	T	15: 7,247,044	M547K	possibly damaging	Het
Fgr	T	C	4: 132,998,479	Y400H	probably damaging	Het
Gaa	C	T	11: 119,272,936	P205S	probably benign	Het
Gm14139	A	G	2: 150,192,346	S196G	possibly damaging	Het
Gpr6	T	A	10: 41,070,915	T224S	probably benign	Het
Hes3	T	C	4: 152,287,481		probably benign	Het
Hydin	T	C	8: 110,583,909	F4079S	probably damaging	Het
Igf2bp2	A	T	16: 22,076,099	I366N	probably damaging	Het
Kmt2c	A	G	5: 25,351,234	V1171A	probably damaging	Het
Kndc1	T	A	7: 139,910,620	F346Y	possibly damaging	Het
Lpin2	G	A	17: 71,230,375	G306R	probably benign	Het
Mok	T	C	12: 110,814,917		probably benign	Het
Nolc1	T	C	19: 46,081,584	V265A	unknown	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1018	T	G	2: 85,823,613	L214R	possibly damaging	Het
Olfr1106	A	C	2: 87,048,846	L130R	probably damaging	Het
Olfr1195	G	A	2: 88,683,193	Q180*	probably null	Het
Olfr1415	A	G	1: 92,491,275	V160A	possibly damaging	Het
Parp14	G	A	16: 35,856,634	T988I	probably benign	Het
Pdk1	A	T	2: 71,875,452	Q81H	probably benign	Het
Plekha6	A	G	1: 133,263,806	T38A	probably benign	Het
Pou2f1	A	G	1: 165,894,903		probably null	Het
Rgs6	A	G	12: 83,116,292	D424G	probably null	Het
Rnf13	T	G	3: 57,807,070	Y183*	probably null	Het
Ryr2	A	T	13: 11,588,140		probably null	Het
Serpinb7	T	A	1: 107,434,757	S64T	possibly damaging	Het
Six2	T	C	17: 85,687,672	E94G	probably damaging	Het
Slc44a5	A	G	3: 154,247,810	I276M	possibly damaging	Het
Smco2	A	G	6: 146,868,135	Y239C	probably damaging	Het
Ssx2ip	T	C	3: 146,422,911	S148P	probably damaging	Het
Tiam2	T	C	17: 3,448,396	Y816H	possibly damaging	Het
Tpd52l1	T	C	10: 31,332,917	N185S	probably benign	Het
Try5	T	C	6: 41,313,487	D21G	probably benign	Het
Vmn2r20	A	G	6: 123,396,410	V491A	possibly damaging	Het
Vps54	G	T	11: 21,275,095	R197L	probably damaging	Het
Xkr5	G	T	8: 18,948,720	Y27*	probably null	Het
Zfp626	T	A	7: 27,818,715	C374S	possibly damaging	Het

Other mutations in Tnk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Tnk2	APN	16	32680680	missense	probably damaging	0.99
IGL02212:Tnk2	APN	16	32680142	missense	probably damaging	0.97
IGL02445:Tnk2	APN	16	32675590	missense	probably benign	0.00
junior	UTSW	16	32680085	missense	probably benign
Rookie	UTSW	16	32679785	missense	probably damaging	1.00
IGL02799:Tnk2	UTSW	16	32665881	splice site	probably benign
R0310:Tnk2	UTSW	16	32680590	missense	probably benign
R0989:Tnk2	UTSW	16	32680358	missense	probably damaging	1.00
R1556:Tnk2	UTSW	16	32670919	critical splice donor site	probably null
R1851:Tnk2	UTSW	16	32679462	missense	probably damaging	1.00
R1854:Tnk2	UTSW	16	32680142	missense	probably damaging	0.97
R1938:Tnk2	UTSW	16	32663742	start gained	probably benign
R2137:Tnk2	UTSW	16	32670802	splice site	probably null
R2189:Tnk2	UTSW	16	32671421	missense	probably damaging	1.00
R3772:Tnk2	UTSW	16	32679822	missense	probably damaging	1.00
R4037:Tnk2	UTSW	16	32670796	missense	probably damaging	1.00
R4413:Tnk2	UTSW	16	32669501	missense	probably damaging	1.00
R4751:Tnk2	UTSW	16	32679857	missense	probably damaging	1.00
R4878:Tnk2	UTSW	16	32679630	missense	probably damaging	1.00
R4983:Tnk2	UTSW	16	32680465	missense	probably damaging	1.00
R5063:Tnk2	UTSW	16	32670850	missense	probably damaging	1.00
R5541:Tnk2	UTSW	16	32669523	missense	probably benign	0.07
R5759:Tnk2	UTSW	16	32680664	missense	probably benign
R5888:Tnk2	UTSW	16	32671367	missense	probably damaging	1.00
R6142:Tnk2	UTSW	16	32670099	missense	probably damaging	1.00
R6372:Tnk2	UTSW	16	32679785	missense	probably damaging	1.00
R6717:Tnk2	UTSW	16	32670869	missense	probably damaging	1.00
R6939:Tnk2	UTSW	16	32663878	missense	probably damaging	1.00
R7157:Tnk2	UTSW	16	32681168	missense	probably damaging	1.00
R7292:Tnk2	UTSW	16	32680800	missense	probably benign
R7362:Tnk2	UTSW	16	32675520	critical splice acceptor site	probably null
R7477:Tnk2	UTSW	16	32677891	splice site	probably null
R7558:Tnk2	UTSW	16	32680085	missense	probably benign
R7665:Tnk2	UTSW	16	32680526	missense	probably damaging	1.00
R7731:Tnk2	UTSW	16	32670134	missense	possibly damaging	0.69
R7867:Tnk2	UTSW	16	32681235	missense	probably damaging	0.99
R8167:Tnk2	UTSW	16	32680262	missense	probably damaging	1.00
R8738:Tnk2	UTSW	16	32665900	missense	probably damaging	1.00
R9241:Tnk2	UTSW	16	32670098	missense	probably damaging	1.00
R9267:Tnk2	UTSW	16	32675671	missense	probably damaging	1.00
R9504:Tnk2	UTSW	16	32680143	missense	possibly damaging	0.94
R9643:Tnk2	UTSW	16	32670200	missense	probably damaging	1.00
R9786:Tnk2	UTSW	16	32680057	nonsense	probably null
X0063:Tnk2	UTSW	16	32670850	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGTCTGAGGCTTACCAGTAG -3'
(R):5'- AACCTGAACATGGCTCAAAAGG -3'

Sequencing Primer
(F):5'- ACTGAGTGCCTCTGGGG -3'
(R):5'- GTGAGTACTTTCACAACTGTCCCTAG -3'

Posted On

2020-01-23