Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02552:Pkn3'

298146

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 #

IGL02552

Quality Score

Status

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30080867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 209 (R209Q)

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: R205Q

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

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: R205Q

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: R209Q

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

SMART Domains

Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
AA Change: R209Q

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,414,496	L178S	probably damaging	Het
2010005H15Rik	A	G	16: 36,253,089	E15G	probably damaging	Het
9130409I23Rik	T	A	1: 181,054,898	V75E	possibly damaging	Het
Abca12	A	G	1: 71,294,747	Y1199H	probably damaging	Het
Abcc9	T	C	6: 142,605,919	D1221G	possibly damaging	Het
Apc	T	A	18: 34,312,982	M977K	possibly damaging	Het
Arhgap30	T	A	1: 171,407,756	L566Q	probably damaging	Het
Arhgap40	T	A	2: 158,546,801	W552R	probably benign	Het
Astn1	C	T	1: 158,505,395	S349F	possibly damaging	Het
Bard1	T	C	1: 71,065,656		probably benign	Het
Batf2	T	A	19: 6,171,507	Y116N	probably benign	Het
Cbx6	T	C	15: 79,828,893	H111R	probably damaging	Het
Cd44	T	A	2: 102,848,731	N242I	probably benign	Het
Cdnf	C	T	2: 3,523,975	Q184*	probably null	Het
Chd2	C	A	7: 73,447,320		probably benign	Het
Cmtm6	G	A	9: 114,737,306	V88M	probably damaging	Het
Col24a1	C	A	3: 145,474,207	S1151R	possibly damaging	Het
Dnajc2	T	C	5: 21,783,063	D6G	probably damaging	Het
Eif3a	G	A	19: 60,763,226		probably benign	Het
Fbn1	C	A	2: 125,412,713	C210F	possibly damaging	Het
Fmn2	T	A	1: 174,695,720	D1380E	probably damaging	Het
Fry	A	T	5: 150,380,910	K588N	probably damaging	Het
Gm18856	G	A	13: 13,965,220		probably benign	Het
Gpr37	G	T	6: 25,688,687	T137K	probably benign	Het
Gzmc	T	C	14: 56,234,582	M1V	probably null	Het
Htr5a	T	C	5: 27,842,960	V171A	probably benign	Het
Ints6l	T	C	X: 56,455,197		probably benign	Het
Kcnma1	C	T	14: 23,386,259		probably null	Het
Krt35	C	T	11: 100,093,073	G367D	probably benign	Het
Nlrp1b	C	T	11: 71,182,052	V322I	possibly damaging	Het
Nlrp1b	C	T	11: 71,172,231	V668I	possibly damaging	Het
Ntf3	T	C	6: 126,101,860	N228D	probably damaging	Het
Nup133	G	A	8: 123,929,255	R496W	possibly damaging	Het
Olfr1258	T	C	2: 89,930,559	V250A	probably benign	Het
Olfr640	C	A	7: 104,022,256	G21W	probably damaging	Het
Pah	C	T	10: 87,578,845		probably benign	Het
Pan2	G	T	10: 128,319,027	W1112L	probably damaging	Het
Plaa	C	T	4: 94,582,480		probably null	Het
Qprt	C	T	7: 127,108,855	A135T	probably damaging	Het
Rbbp6	T	G	7: 122,982,981	S108A	probably damaging	Het
Smg1	T	A	7: 118,195,894		probably benign	Het
Spink5	T	A	18: 43,992,168	C368S	possibly damaging	Het
Sptan1	T	A	2: 30,018,474	I1734N	probably damaging	Het
Stk38l	C	T	6: 146,767,533	L170F	probably damaging	Het
Tesmin	C	T	19: 3,402,483		probably benign	Het
Tjp1	A	T	7: 65,299,782	C1697*	probably null	Het
Tmco4	T	C	4: 139,058,379	S587P	probably benign	Het
Tmem208	G	A	8: 105,328,697		probably null	Het
Trim30d	T	C	7: 104,472,416	Q224R	probably damaging	Het
Trpm7	T	A	2: 126,840,779	D390V	probably damaging	Het
Uba7	A	G	9: 107,981,390	I807V	probably benign	Het
Uhrf1bp1l	T	A	10: 89,806,743	L10*	probably null	Het
Utp18	C	A	11: 93,868,334	C438F	probably damaging	Het
Vps13d	T	C	4: 145,173,137	K191E	possibly damaging	Het
Wdr27	A	G	17: 14,926,191	S181P	probably damaging	Het
Zfp462	T	C	4: 55,010,613	Y860H	probably damaging	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
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
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