Mutagenetix > Incidental Mutation

Incidental Mutation 'R7746:Pkn3'

596826

Institutional Source

Beutler Lab

Gene Symbol

Pkn3

Ensembl Gene

ENSMUSG00000026785

Gene Name

protein kinase N3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7746 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30090584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 829 (C829Y)

Ref Sequence

ENSEMBL: ENSMUSP00000041025 (fasta)

Gene Model

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

AlphaFold

Q8K045

Predicted Effect

probably benign
Transcript: ENSMUST00000045246
AA Change: C829Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: C829Y

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

Meta Mutation Damage Score

0.1261

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,728,995	Q184L	probably benign	Het
9030624G23Rik	T	G	12: 24,074,673	S68R	possibly damaging	Het
Acyp1	G	T	12: 85,279,058	R56S	unknown	Het
Angpt2	C	T	8: 18,692,064	R492Q	probably damaging	Het
Ankrd36	T	C	11: 5,687,451	L1340P	possibly damaging	Het
Arhgef33	G	C	17: 80,347,120		probably null	Het
Bach1	G	A	16: 87,729,633	S661N	probably benign	Het
Bik	T	C	15: 83,541,334	I12T	possibly damaging	Het
C3	C	T	17: 57,218,859	R841H	probably damaging	Het
Cacna1s	G	T	1: 136,069,018	R119L	probably damaging	Het
Cic	G	A	7: 25,288,782	V1632M	probably damaging	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Dchs2	A	G	3: 83,128,057	H37R	possibly damaging	Het
Dvl1	A	G	4: 155,856,239	I439V	possibly damaging	Het
Fam19a1	T	C	6: 96,115,756		probably null	Het
Fat1	G	A	8: 44,951,633	D474N	probably damaging	Het
Foxs1	T	A	2: 152,933,108	E8D	probably benign	Het
Garnl3	T	C	2: 32,992,257	D822G	probably damaging	Het
Gm11397	A	T	13: 33,397,858	I133L	probably damaging	Het
Gm11756	C	T	4: 73,919,862	S29N	possibly damaging	Het
Gm44501	C	T	17: 40,578,829	A78V	possibly damaging	Het
Gpr19	C	A	6: 134,869,392	A443S	probably damaging	Het
Helb	T	C	10: 120,095,102	R729G	probably null	Het
Lnpep	G	T	17: 17,538,562	T840K	probably benign	Het
Mctp2	T	C	7: 72,185,796	N551S	probably benign	Het
Mgam	T	G	6: 40,668,193	F635V	probably damaging	Het
Mlc1	G	A	15: 88,964,170	A262V	probably damaging	Het
Muc5b	A	G	7: 141,862,239	Y2974C	probably benign	Het
Nprl3	A	T	11: 32,248,150	Y208*	probably null	Het
Olfr1090	A	T	2: 86,754,093	L215Q	probably damaging	Het
Olfr136	C	T	17: 38,335,394	P79L	probably benign	Het
Pkn2	A	G	3: 142,794,107	F915S	probably damaging	Het
Polr1a	C	T	6: 71,941,512	P685S	probably damaging	Het
Ppp4r3b	A	G	11: 29,173,352	D16G	probably benign	Het
Ppwd1	C	T	13: 104,217,206	R348H	probably damaging	Het
Pxdc1	T	C	13: 34,639,063	T98A	probably benign	Het
Rhbdl1	T	C	17: 25,836,193	I68V	probably benign	Het
Ror2	A	G	13: 53,117,225	C365R	probably damaging	Het
Samd4b	A	T	7: 28,403,903	H43Q	probably damaging	Het
Sbf2	A	T	7: 110,441,426	V398D	probably benign	Het
Sbno2	T	C	10: 80,058,874	I1012M	probably damaging	Het
Strn	T	C	17: 78,677,372	T281A	probably benign	Het
Syt4	T	A	18: 31,444,265	D12V	probably benign	Het
Tmem45a	A	G	16: 56,825,737	L40P	probably damaging	Het
Tnn	G	A	1: 160,114,685	P1081L	probably damaging	Het
Unc80	T	C	1: 66,677,385	V2888A	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
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
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'- TTCAGGGTAATTACGAAGCCAG -3'
(R):5'- TAAATACTTCGGCCCAGGC -3'

Sequencing Primer
(F):5'- GGGTAATTACGAAGCCAGAACCC -3'
(R):5'- ATACTTCGGCCCAGGCACATG -3'

Posted On

2019-11-26