Mutagenetix > Incidental Mutation

Incidental Mutation 'R0491:Pkn3'

42449

Institutional Source

Beutler Lab

Gene Symbol

Pkn3

Ensembl Gene

ENSMUSG00000026785

Gene Name

protein kinase N3

Synonyms

MMRRC Submission

038689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30089877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 711 (T711S)

Ref Sequence

ENSEMBL: ENSMUSP00000041025 (fasta)

Gene Model

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

AlphaFold

Q8K045

Predicted Effect

probably damaging
Transcript: ENSMUST00000045246
AA Change: T711S

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

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: T711S

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

0.3301

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (65/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,182,243	S356T	probably damaging	Het
Abca13	T	C	11: 9,298,235	F2661L	probably benign	Het
Acadsb	A	G	7: 131,430,107	D224G	probably benign	Het
Acsm1	A	G	7: 119,640,697	H288R	probably damaging	Het
Adamts2	A	G	11: 50,776,630	D465G	probably damaging	Het
Akap9	A	T	5: 3,972,851		probably benign	Het
Alms1	A	G	6: 85,702,600	T3240A	probably damaging	Het
Ap3d1	A	G	10: 80,719,241	W417R	probably damaging	Het
Arfgef1	C	A	1: 10,179,987		probably benign	Het
Atf6	A	G	1: 170,787,344		probably null	Het
Cacna1s	T	A	1: 136,089,008		probably benign	Het
Clcn1	T	C	6: 42,310,581	F740L	probably benign	Het
Clec12a	T	A	6: 129,364,053	D265E	probably benign	Het
Clic3	T	A	2: 25,457,785		probably benign	Het
Cntnap3	T	G	13: 64,762,045	T749P	probably benign	Het
Col11a2	T	A	17: 34,042,212	D45E	probably null	Het
Crxos	T	A	7: 15,898,535	S89T	probably benign	Het
Cxcr1	G	T	1: 74,192,309	P185T	possibly damaging	Het
Cyp20a1	T	A	1: 60,371,327	N262K	possibly damaging	Het
Dpy19l2	T	C	9: 24,696,028	R46G	probably benign	Het
Dpysl2	A	T	14: 66,807,962	L454Q	probably damaging	Het
Dvl3	C	T	16: 20,527,423		probably benign	Het
Eppin	T	A	2: 164,589,412	E98V	possibly damaging	Het
Fancm	A	T	12: 65,106,061	H1097L	probably benign	Het
Fkbp4	A	G	6: 128,435,742	I75T	probably damaging	Het
Fmn2	A	G	1: 174,581,959	H586R	unknown	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Haus6	A	C	4: 86,602,846	V185G	possibly damaging	Het
Herc2	T	A	7: 56,122,366	C1098S	possibly damaging	Het
Hic1	C	A	11: 75,166,310	L584F	possibly damaging	Het
Itgb1bp1	C	A	12: 21,276,895		probably benign	Het
Kbtbd2	G	A	6: 56,780,389	R121*	probably null	Het
Lgr4	C	T	2: 110,007,281		probably benign	Het
Lrrc55	T	C	2: 85,191,920	E309G	probably damaging	Het
Mertk	T	C	2: 128,793,107		probably null	Het
Micu3	A	G	8: 40,366,253		probably benign	Het
Mmp11	G	A	10: 75,926,758	A287V	probably benign	Het
Mpzl2	A	G	9: 45,042,741	Y47C	probably damaging	Het
Muc5b	A	C	7: 141,862,015	R2899S	probably benign	Het
Myo1b	A	G	1: 51,755,698	Y1078H	probably benign	Het
Naip1	A	T	13: 100,423,219	D1092E	probably benign	Het
Ncapd3	T	G	9: 27,057,883	V611G	probably damaging	Het
Ntpcr	C	T	8: 125,737,354	R73*	probably null	Het
Olfr1225	A	T	2: 89,170,360	V284E	probably benign	Het
Olfr1475	G	A	19: 13,479,493	A235V	probably damaging	Het
Osbp2	A	G	11: 3,714,709	F88S	probably damaging	Het
Plekhm1	T	C	11: 103,394,776	K278E	probably benign	Het
Ppp1r36	A	G	12: 76,439,291	T408A	probably benign	Het
Prss41	T	C	17: 23,842,503	T105A	possibly damaging	Het
Psme1	G	T	14: 55,579,921		probably benign	Het
Ptprq	A	T	10: 107,608,175	Y1523N	probably damaging	Het
Ric8b	A	G	10: 84,992,222	D470G	probably damaging	Het
Scarb1	A	G	5: 125,298,731		probably benign	Het
Slc25a54	G	A	3: 109,102,796	A204T	probably damaging	Het
Spink10	T	C	18: 62,659,965	C67R	probably damaging	Het
St5	T	A	7: 109,557,204	Q113L	probably benign	Het
Tmtc1	A	T	6: 148,412,640		probably null	Het
Tprkb	A	G	6: 85,924,464	D28G	probably benign	Het
Ttll13	A	G	7: 80,260,350	H747R	probably benign	Het
Usp24	A	G	4: 106,402,105	S1608G	probably benign	Het
Utp20	A	T	10: 88,760,912	F2115L	probably damaging	Het
Vmn1r200	A	T	13: 22,395,191	I46L	probably benign	Het
Zdhhc8	A	T	16: 18,228,390	M103K	probably damaging	Het
Zfp595	C	T	13: 67,317,305	G298E	probably damaging	Het
Zfp738	T	G	13: 67,670,021	H617P	possibly damaging	Het
Zfp9	A	T	6: 118,465,202	H166Q	probably damaging	Het
Zp3r	C	A	1: 130,618,334	D80Y	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
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

Predicted Primers

PCR Primer
(F):5'- gtgagccatctcttcagGTCCATTC -3'
(R):5'- ACATGGGACATCAGCACTGACG -3'

Sequencing Primer
(F):5'- ggctgtcctggaactcac -3'
(R):5'- AATTGGGGTTCAGCAGGC -3'

Posted On

2013-05-23