Mutagenetix > Incidental Mutation

Incidental Mutation 'R9267:Tnk2'

702647

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

R9267 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32462699-32502311 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32494489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 469 (D469G)

Ref Sequence

ENSEMBL: ENSMUSP00000110777 (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 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 damaging
Transcript: ENSMUST00000115123
AA Change: D469G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791
AA Change: D469G

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 damaging
Transcript: ENSMUST00000115124
AA Change: D469G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791
AA Change: D469G

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 damaging
Transcript: ENSMUST00000115125
AA Change: D469G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791
AA Change: D469G

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 damaging
Transcript: ENSMUST00000115126
AA Change: D469G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791
AA Change: D469G

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: 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: 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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (79/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,869,657 (GRCm39)		probably benign	Het
Abcd2	T	A	15: 91,063,423 (GRCm39)	T422S	possibly damaging	Het
Acsl3	T	G	1: 78,674,623 (GRCm39)	I390S	probably damaging	Het
Adad1	T	A	3: 37,139,074 (GRCm39)		probably benign	Het
Adam3	A	G	8: 25,171,605 (GRCm39)	V742A	probably benign	Het
Adgra3	A	T	5: 50,155,618 (GRCm39)	I450K	possibly damaging	Het
Adgrb2	T	C	4: 129,885,901 (GRCm39)	S14P	possibly damaging	Het
Arfgef3	T	A	10: 18,475,028 (GRCm39)	I1553F	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc27	A	G	4: 154,117,441 (GRCm39)	L502P	probably damaging	Het
Ccdc50	T	A	16: 27,208,700 (GRCm39)	L5Q		Het
Cdh16	C	T	8: 105,341,834 (GRCm39)	G777D	probably damaging	Het
Cntn2	C	A	1: 132,449,021 (GRCm39)	V663L	probably benign	Het
Cpne4	T	A	9: 104,884,833 (GRCm39)	V343E	probably damaging	Het
Dctpp1	A	T	7: 126,856,275 (GRCm39)	I149N	probably benign	Het
Dlg5	T	C	14: 24,204,745 (GRCm39)	N1266S	probably damaging	Het
Dst	A	G	1: 34,232,145 (GRCm39)	D3246G	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Erbin	T	C	13: 103,987,292 (GRCm39)	T423A	probably damaging	Het
Erich5	C	T	15: 34,471,563 (GRCm39)	P264L	possibly damaging	Het
Fam90a1a	A	G	8: 22,453,091 (GRCm39)	M149V	probably benign	Het
Fbxl18	C	T	5: 142,880,870 (GRCm39)	G62R	possibly damaging	Het
Fech	A	G	18: 64,591,267 (GRCm39)	S386P	possibly damaging	Het
Fhl3	T	A	4: 124,601,498 (GRCm39)		probably null	Het
Fkbp5	A	G	17: 28,629,558 (GRCm39)	S256P	probably benign	Het
Frem2	A	G	3: 53,564,504 (GRCm39)	M1T	probably null	Het
Galnt5	T	C	2: 57,925,220 (GRCm39)	F834L	possibly damaging	Het
Gm3618	G	T	14: 17,502,588 (GRCm39)	T99N	unknown	Het
Gm9195	T	A	14: 72,700,546 (GRCm39)	Q1127L	possibly damaging	Het
Gpsm1	A	G	2: 26,236,835 (GRCm39)	D643G	probably damaging	Het
Grm4	A	G	17: 27,654,183 (GRCm39)	V589A	possibly damaging	Het
Gskip	T	A	12: 105,665,052 (GRCm39)	F30L	probably benign	Het
Haus3	T	A	5: 34,311,452 (GRCm39)		probably null	Het
Heatr1	T	C	13: 12,421,489 (GRCm39)	F463S	probably damaging	Het
Hmcn1	G	A	1: 150,473,740 (GRCm39)	S4851F	probably benign	Het
Il16	A	C	7: 83,371,757 (GRCm39)	F16L	probably benign	Het
Itga1	C	A	13: 115,185,924 (GRCm39)	C26F	possibly damaging	Het
Itga6	A	G	2: 71,668,756 (GRCm39)	E565G	probably benign	Het
Itgb4	A	G	11: 115,870,465 (GRCm39)	H98R	probably benign	Het
Kidins220	T	A	12: 25,038,558 (GRCm39)	S37T	probably benign	Het
Lrrc37	A	T	11: 103,495,406 (GRCm39)	D2804E	unknown	Het
Lrrk2	C	T	15: 91,584,629 (GRCm39)	L349F	probably damaging	Het
Malrd1	T	G	2: 16,260,077 (GRCm39)	I2099S	unknown	Het
Mapk8ip1	A	G	2: 92,216,714 (GRCm39)	I492T	possibly damaging	Het
Mest	T	A	6: 30,742,141 (GRCm39)	D68E		Het
Mthfd1l	A	G	10: 3,934,154 (GRCm39)	D162G	probably benign	Het
Nalcn	A	T	14: 123,518,567 (GRCm39)	D1657E	probably benign	Het
Nbeal2	C	A	9: 110,462,115 (GRCm39)	V1475F	probably damaging	Het
Nf1	C	A	11: 79,331,716 (GRCm39)	Q684K	possibly damaging	Het
Opn5	T	A	17: 42,903,793 (GRCm39)	T181S	probably damaging	Het
Or10ag54	T	C	2: 87,099,326 (GRCm39)	L67P	possibly damaging	Het
Or1j19	A	T	2: 36,676,530 (GRCm39)		probably benign	Het
Or7a38	A	G	10: 78,752,803 (GRCm39)	N43S	probably damaging	Het
Or9s15	A	T	1: 92,524,994 (GRCm39)	H251L	probably damaging	Het
Or9s15	A	T	1: 92,524,996 (GRCm39)	M252L	probably benign	Het
Orc4	T	A	2: 48,827,534 (GRCm39)	R20*	probably null	Het
Pik3ca	T	C	3: 32,492,211 (GRCm39)	Y270H	probably damaging	Het
Pkn2	T	C	3: 142,517,676 (GRCm39)	E474G	probably null	Het
Pnma8b	A	T	7: 16,679,159 (GRCm39)	N48Y	unknown	Het
Pnpla2	A	C	7: 141,036,503 (GRCm39)		probably benign	Het
Polr1a	G	A	6: 71,942,542 (GRCm39)	M1127I	probably benign	Het
Ptpre	A	C	7: 135,274,549 (GRCm39)	D507A	probably damaging	Het
Rab3gap2	T	C	1: 184,983,331 (GRCm39)	V490A	probably damaging	Het
Rab44	A	T	17: 29,354,338 (GRCm39)		probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Ripor1	A	G	8: 106,348,063 (GRCm39)	D1146G	unknown	Het
Sh3yl1	A	T	12: 30,972,335 (GRCm39)	I35F	possibly damaging	Het
Slc22a5	A	G	11: 53,764,619 (GRCm39)	F276L	probably benign	Het
Slc8a3	T	A	12: 81,361,208 (GRCm39)	D537V	possibly damaging	Het
Smc4	T	A	3: 68,941,786 (GRCm39)	I1263N	probably damaging	Het
Snai2	A	T	16: 14,525,120 (GRCm39)	T209S	possibly damaging	Het
Stam2	A	T	2: 52,604,903 (GRCm39)	Y211N	probably damaging	Het
Stxbp1	A	G	2: 32,708,517 (GRCm39)	S83P	probably damaging	Het
Susd4	T	C	1: 182,716,389 (GRCm39)	F325L	probably benign	Het
Tmem245	A	G	4: 56,947,236 (GRCm39)	V59A	probably benign	Het
Tpx2	A	G	2: 152,732,517 (GRCm39)	D597G	probably damaging	Het
Ube2w	A	T	1: 16,612,011 (GRCm39)	S170R		Het
Vmn2r102	A	T	17: 19,896,928 (GRCm39)	I92F	probably damaging	Het
Vmn2r11	T	A	5: 109,199,929 (GRCm39)	E508V	possibly damaging	Het
Vmn2r30	T	A	7: 7,340,432 (GRCm39)	I21F	possibly damaging	Het
Yipf2	G	A	9: 21,501,489 (GRCm39)	T187M	possibly damaging	Het
Zbtb8a	T	A	4: 129,248,267 (GRCm39)	K335*	probably null	Het
Zfp609	T	C	9: 65,608,328 (GRCm39)	D1184G	possibly damaging	Het

Other mutations in Tnk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TTGTCTGGGGTCACTTTCAC -3'
(R):5'- GAGCATACTTCCAGCCTTCAC -3'

Sequencing Primer
(F):5'- ATACCCGGTATTTACCACACTATC -3'
(R):5'- GCCTTCACCCATCAGTAACAG -3'

Posted On

2022-03-25