Mutagenetix > Incidental Mutations

Incidental Mutation 'R4808:Pkn3'

370800

Institutional Source

Beutler Lab

Gene Symbol

Pkn3

Ensembl Gene

ENSMUSG00000026785

Gene Name

protein kinase N3

Synonyms

MMRRC Submission

042427-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4808 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30090081 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 750 (G750E)

Ref Sequence

ENSEMBL: ENSMUSP00000041025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045246] [ENSMUST00000081838] [ENSMUST00000102865]

Predicted Effect

probably damaging
Transcript: ENSMUST00000045246
AA Change: G750E

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

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: G750E

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 benign
Transcript: ENSMUST00000081838

SMART Domains

Protein: ENSMUSP00000080521
Gene: ENSMUSG00000015335

Domain	Start	End	E-Value	Type
transmembrane domain	58	80	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
Pfam:zf-DHHC	106	232	1.9e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102865

SMART Domains

Protein: ENSMUSP00000099929
Gene: ENSMUSG00000015335

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:zf-DHHC	58	218	1.1e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156197

Meta Mutation Damage Score

0.5317

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (71/72)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,672	F309S	unknown	Het
Abi3bp	A	G	16: 56,594,516	D347G	probably damaging	Het
Adora2a	A	G	10: 75,333,446	N248S	probably damaging	Het
Agap3	T	C	5: 24,501,245	F836L	probably benign	Het
Arap2	G	A	5: 62,730,641	T454M	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atm	A	G	9: 53,445,495	S2819P	probably damaging	Het
Atp8b1	A	G	18: 64,561,711	F500S	probably benign	Het
Catsper1	G	A	19: 5,344,136	D682N	possibly damaging	Het
Ccdc105	A	T	10: 78,752,864	D37E	probably benign	Het
Chordc1	A	G	9: 18,292,413	Y6C	probably damaging	Het
Cped1	A	G	6: 22,088,757	K273R	probably damaging	Het
Crat	T	C	2: 30,410,021	I116V	probably benign	Het
Cyp26a1	A	G	19: 37,701,125	H423R	probably benign	Het
Cyp4f40	A	G	17: 32,674,275	E360G	probably benign	Het
D430041D05Rik	A	C	2: 104,201,110		probably null	Het
Eif3i	A	T	4: 129,592,064	F323I	probably benign	Het
Fam53a	A	G	5: 33,607,679	S228P	probably damaging	Het
Gm10305	C	T	4: 99,273,244		noncoding transcript	Het
Gm7347	C	T	5: 26,054,997	R185H	probably benign	Het
Golga2	G	T	2: 32,303,214	A441S	probably benign	Het
Gphn	T	A	12: 78,654,880	S608T	probably benign	Het
Gramd1b	A	T	9: 40,304,349	V620E	possibly damaging	Het
H2-M9	T	C	17: 36,640,792	T264A	probably damaging	Het
Hist2h2bb	T	G	3: 96,270,013	S88A	probably benign	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Hsd3b6	G	A	3: 98,806,285	H233Y	probably damaging	Het
Ighv6-7	T	A	12: 114,455,721	R88*	probably null	Het
Jup	C	T	11: 100,378,192	R465H	probably damaging	Het
Kif16b	A	T	2: 142,857,358	Y101N	probably damaging	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Mapkap1	G	A	2: 34,597,422		probably null	Het
Myocos	T	C	1: 162,657,040		probably benign	Het
Nav1	C	T	1: 135,455,204	G1197S	probably damaging	Het
Oas1g	T	G	5: 120,879,322	K223T	possibly damaging	Het
Olfr293	A	G	7: 86,663,938	D92G	probably benign	Het
Olfr577	T	C	7: 102,973,911	H27R	probably damaging	Het
Oprd1	G	A	4: 132,117,394	T101M	probably damaging	Het
Pcdha7	G	A	18: 36,974,228	C102Y	probably damaging	Het
Pcx	T	A	19: 4,620,928	S1086T	probably benign	Het
Pde8a	A	G	7: 81,282,931	T114A	probably benign	Het
Pias4	A	G	10: 81,155,840		probably null	Het
Pramel5	G	A	4: 144,272,755	A254V	probably benign	Het
Ptprq	A	G	10: 107,718,507	L119P	probably damaging	Het
Rasgrf2	A	T	13: 92,023,682	L395Q	probably damaging	Het
Rbm19	T	C	5: 120,118,774	S51P	probably damaging	Het
Rfx5	A	G	3: 94,958,280	T297A	probably benign	Het
Scaf1	T	C	7: 45,008,639	E272G	probably damaging	Het
Slc24a2	G	T	4: 87,032,238	Q396K	probably benign	Het
Slc39a14	T	C	14: 70,315,801	I162V	probably damaging	Het
Snap25	A	G	2: 136,770,102	D70G	probably damaging	Het
Spata31d1b	C	T	13: 59,715,721	P228S	probably benign	Het
Sppl3	T	A	5: 115,083,426		probably benign	Het
Sspo	A	G	6: 48,451,161	D314G	probably damaging	Het
Steap1	G	T	5: 5,738,829		probably benign	Het
Suox	T	A	10: 128,671,889	D90V	possibly damaging	Het
Sycp2	T	C	2: 178,393,961		probably benign	Het
Tln2	G	T	9: 67,331,733	T1087K	probably benign	Het
Uap1l1	A	G	2: 25,362,085	S473P	probably damaging	Het
Xpo5	T	A	17: 46,235,970	N882K	probably benign	Het
Zfp536	A	T	7: 37,479,305	C228S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGACTCAGGAGGCTTACACG -3'
(R):5'- GATGTGAACCTGAGGGCATG -3'

Sequencing Primer
(F):5'- TTACACGCGTGCTGTGGAC -3'
(R):5'- GGTACCCGACTTAAGCTATGCTAG -3'

Posted On

2016-02-04