Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00422:Pkn3'

7245

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pkn3

Ensembl Gene

ENSMUSG00000026785

Gene Name

protein kinase N3

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00422

Quality Score

Status

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30081104 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 228 (A228T)

Ref Sequence

ENSEMBL: ENSMUSP00000041025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045246] [ENSMUST00000125346] [ENSMUST00000150770]

Predicted Effect

probably damaging
Transcript: ENSMUST00000045246
AA Change: A228T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: A228T

Domain	Start	End	E-Value	Type
Hr1	15	78	3.45e-17	SMART
Hr1	98	166	6.19e-19	SMART
Hr1	171	239	3.32e-19	SMART
low complexity region	528	537	N/A	INTRINSIC
S_TKc	548	807	2.52e-93	SMART
S_TK_X	808	872	9.58e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125346
AA Change: A232T

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
AA Change: A232T

Domain	Start	End	E-Value	Type
Hr1	19	82	3.45e-17	SMART
Hr1	102	170	6.19e-19	SMART
Hr1	175	238	6.4e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148650

Predicted Effect

probably benign
Transcript: ENSMUST00000150770

SMART Domains

Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785

Domain	Start	End	E-Value	Type
Hr1	28	91	3.45e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156197

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation are viable, fertile and healthy. Mice with conditional loss of this gene and Pten in hematopoietic cells show a delay in leukemia development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,068,186	A359T	probably damaging	Het
Ajuba	A	T	14: 54,571,769	Y400*	probably null	Het
Cckar	T	A	5: 53,699,829	D342V	possibly damaging	Het
Cdc123	A	G	2: 5,798,449	V253A	probably benign	Het
Cep162	T	C	9: 87,227,167	D461G	probably benign	Het
Chd7	G	A	4: 8,859,106	E2399K	probably damaging	Het
Cln8	G	A	8: 14,896,637	C217Y	probably benign	Het
Dchs1	A	G	7: 105,758,029	V2119A	possibly damaging	Het
Dhx33	T	C	11: 71,001,620	S108G	probably benign	Het
Dip2a	T	A	10: 76,313,236	M194L	probably benign	Het
Dnah11	T	C	12: 118,068,096	K1779R	probably damaging	Het
Fads3	T	G	19: 10,055,681	F328V	possibly damaging	Het
Flad1	A	G	3: 89,405,853		probably null	Het
Gm5346	A	G	8: 43,626,351	F279L	probably damaging	Het
Gm7535	G	T	17: 17,911,888		probably benign	Het
Gnpat	A	G	8: 124,885,013	E513G	probably damaging	Het
H2-M5	A	G	17: 36,987,840	I238T	probably damaging	Het
Hoxd12	G	A	2: 74,675,427	R114Q	probably damaging	Het
Ide	T	C	19: 37,276,532	I903V	unknown	Het
Ifi209	T	G	1: 173,638,963	D120E	possibly damaging	Het
Map3k10	T	C	7: 27,668,469	D248G	probably damaging	Het
Mat2b	C	A	11: 40,687,738	G41C	probably damaging	Het
Mfsd4a	T	C	1: 132,040,594	I369V	probably benign	Het
Myom1	T	A	17: 71,126,098	V1480E	probably damaging	Het
Myom2	A	T	8: 15,069,490	D127V	probably damaging	Het
Olfml2b	T	A	1: 170,669,066	V422E	probably damaging	Het
Rad17	A	T	13: 100,629,525	I365K	probably benign	Het
Rad17	A	T	13: 100,629,523	S366T	probably damaging	Het
Rpp14	G	A	14: 8,083,934	G30E	possibly damaging	Het
Slco1a6	A	C	6: 142,161,017	C15G	probably benign	Het
Spag9	T	A	11: 94,097,866	F571I	probably benign	Het
Ttc27	T	A	17: 74,780,816	C459S	probably damaging	Het
Washc2	A	G	6: 116,256,676	T888A	probably benign	Het
Zcchc7	A	T	4: 44,931,318	H490L	possibly damaging	Het

Other mutations in Pkn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Pkn3	APN	2	30083390	unclassified	probably benign
IGL00815:Pkn3	APN	2	30081200	missense	possibly damaging	0.88
IGL01576:Pkn3	APN	2	30087042	missense	probably damaging	1.00
IGL01897:Pkn3	APN	2	30082812	unclassified	probably benign
IGL02513:Pkn3	APN	2	30083137	missense	probably damaging	0.98
IGL02552:Pkn3	APN	2	30080867	missense	probably damaging	1.00
IGL02622:Pkn3	APN	2	30083146	missense	probably benign	0.28
IGL02689:Pkn3	APN	2	30080846	missense	probably damaging	1.00
IGL02996:Pkn3	APN	2	30080615	missense	probably benign	0.39
IGL03106:Pkn3	APN	2	30085245	missense	probably damaging	0.96
Enflamme	UTSW	2	30083037	unclassified	probably benign
Wrath	UTSW	2	30088584	critical splice donor site	probably null
PIT4151001:Pkn3	UTSW	2	30090527	missense	probably damaging	1.00
R0279:Pkn3	UTSW	2	30083297	missense	probably benign	0.16
R0370:Pkn3	UTSW	2	30087172	missense	probably damaging	1.00
R0491:Pkn3	UTSW	2	30089877	missense	probably damaging	1.00
R0600:Pkn3	UTSW	2	30081134	missense	probably benign	0.06
R1418:Pkn3	UTSW	2	30083047	missense	probably damaging	1.00
R1510:Pkn3	UTSW	2	30079764	critical splice donor site	probably null
R1535:Pkn3	UTSW	2	30087053	missense	probably benign
R1540:Pkn3	UTSW	2	30084691	missense	probably damaging	1.00
R1808:Pkn3	UTSW	2	30079651	missense	probably damaging	1.00
R1884:Pkn3	UTSW	2	30082828	missense	probably damaging	1.00
R1995:Pkn3	UTSW	2	30089977	missense	probably damaging	1.00
R3745:Pkn3	UTSW	2	30090341	missense	probably damaging	1.00
R4119:Pkn3	UTSW	2	30083037	unclassified	probably benign
R4258:Pkn3	UTSW	2	30088560	missense	probably damaging	0.99
R4665:Pkn3	UTSW	2	30085457	unclassified	probably benign
R4772:Pkn3	UTSW	2	30084680	splice site	probably null
R4808:Pkn3	UTSW	2	30090081	missense	probably damaging	1.00
R5038:Pkn3	UTSW	2	30085281	critical splice donor site	probably null
R5388:Pkn3	UTSW	2	30081074	missense	probably damaging	0.99
R5488:Pkn3	UTSW	2	30088584	critical splice donor site	probably null
R5611:Pkn3	UTSW	2	30079661	missense	probably damaging	1.00
R6001:Pkn3	UTSW	2	30088584	critical splice donor site	probably null
R6277:Pkn3	UTSW	2	30082945	missense	possibly damaging	0.93
R6562:Pkn3	UTSW	2	30080687	critical splice donor site	probably null
R6724:Pkn3	UTSW	2	30090550	missense	possibly damaging	0.94
R7061:Pkn3	UTSW	2	30083536	splice site	probably null
R7128:Pkn3	UTSW	2	30083315	missense	probably damaging	1.00
R7249:Pkn3	UTSW	2	30084761	missense	probably benign	0.00
R7475:Pkn3	UTSW	2	30087110	missense	probably benign	0.01
R7746:Pkn3	UTSW	2	30090584	missense	probably benign	0.00
R7747:Pkn3	UTSW	2	30090584	missense	probably benign	0.00
R7783:Pkn3	UTSW	2	30079622	missense	probably damaging	1.00
R8401:Pkn3	UTSW	2	30080059	missense	probably benign	0.00
R8425:Pkn3	UTSW	2	30086501	critical splice donor site	probably null
R8535:Pkn3	UTSW	2	30079924	critical splice acceptor site	probably null

Posted On

2012-04-20