Mutagenetix > Incidental Mutation

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

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 (GRCm38)

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]

AlphaFold

Q8K045

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	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
R8720:Pkn3	UTSW	2	30085184	missense	probably benign	0.01
R8743:Pkn3	UTSW	2	30083306	missense	probably benign	0.00
R9415:Pkn3	UTSW	2	30078320	missense	probably benign	0.20
R9437:Pkn3	UTSW	2	30083255	missense	possibly damaging	0.93
R9583:Pkn3	UTSW	2	30086711	missense	probably null	0.99
R9800:Pkn3	UTSW	2	30083278	nonsense	probably null

Posted On

2015-04-16