Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02689:Pkn3'

303664

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 #

IGL02689

Quality Score

Status

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30080846 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 202 (G202D)

Ref Sequence

ENSEMBL: ENSMUSP00000120268 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000045246
AA Change: G198D

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

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: G198D

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

probably damaging
Transcript: ENSMUST00000125346
AA Change: G202D

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

SMART Domains

Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
AA Change: G202D

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	G	T	4: 86,917,455	A235S	probably benign	Het
Add2	A	G	6: 86,107,406	I479V	possibly damaging	Het
Anapc11	T	A	11: 120,599,342	M28K	probably benign	Het
Anapc15-ps	T	C	10: 95,673,131	S87G	probably benign	Het
Atraid	T	C	5: 31,052,482	L46P	probably damaging	Het
Ccdc80	T	A	16: 45,096,409	Y509*	probably null	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cecr2	T	A	6: 120,762,167	L1257Q	probably damaging	Het
Csn1s2b	A	G	5: 87,809,921	I5V	probably benign	Het
Dhps	T	C	8: 85,073,750	Y221H	possibly damaging	Het
Dmxl1	T	C	18: 49,864,895	S717P	probably damaging	Het
Dppa5a	G	T	9: 78,367,831	S63Y	probably damaging	Het
Eif3l	A	T	15: 79,086,519	D331V	possibly damaging	Het
Folh1	G	T	7: 86,763,045		probably null	Het
Gbp9	G	T	5: 105,105,796	Q18K	probably benign	Het
Grm5	A	G	7: 87,602,710	K56R	probably damaging	Het
H2-M3	T	A	17: 37,270,541	Y31*	probably null	Het
Herc2	T	C	7: 56,165,283		probably benign	Het
Itga7	G	T	10: 128,946,818	A675S	possibly damaging	Het
Lipo5	G	A	19: 33,467,786	H128Y	unknown	Het
Olfr1344	T	C	7: 6,440,575	L225P	possibly damaging	Het
Olfr1480	A	G	19: 13,529,807	I89V	probably benign	Het
Pdk4	C	T	6: 5,487,408	V281I	probably benign	Het
Rcbtb1	A	G	14: 59,224,700	N260S	probably damaging	Het
Sipa1l1	T	C	12: 82,440,820	F1623L	probably benign	Het
Slfn8	A	G	11: 83,017,108	F203S	probably damaging	Het
St6gal2	T	C	17: 55,482,595	L210S	probably damaging	Het
Taf5	T	C	19: 47,077,265		probably benign	Het
Taok2	A	G	7: 126,876,098	F226S	probably damaging	Het
Timm10b	A	G	7: 105,640,632		probably benign	Het
Tmx3	A	G	18: 90,537,116	N319S	possibly damaging	Het
Trmt1	G	T	8: 84,699,756		probably benign	Het

Other mutations in Pkn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Pkn3	APN	2	30081104	missense	probably damaging	0.97
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
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	intron	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

Posted On

2015-04-16