Mutagenetix > Incidental Mutation

Incidental Mutation 'R9583:Pkn3'

722637

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 #

R9583 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30086711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 588 (D588G)

Ref Sequence

ENSEMBL: ENSMUSP00000041025 (fasta)

Gene Model

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

AlphaFold

Q8K045

Predicted Effect

probably null
Transcript: ENSMUST00000045246
AA Change: D588G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: D588G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,581,642	M661R	possibly damaging	Het
2310057J18Rik	A	T	10: 28,986,096	I66N	probably damaging	Het
4933416C03Rik	A	T	10: 116,113,026	D198E	probably benign	Het
Adgrg3	A	T	8: 95,033,443	I97F	probably benign	Het
AI987944	T	A	7: 41,374,513	R350S	probably benign	Het
Arap3	T	C	18: 37,976,043	T1214A	probably damaging	Het
Arid5a	A	G	1: 36,317,658	E127G	possibly damaging	Het
Bbx	T	C	16: 50,224,557	E547G	possibly damaging	Het
Ceacam16	T	C	7: 19,853,878	I322V	probably damaging	Het
Chd2	G	T	7: 73,480,482	N808K	probably damaging	Het
Copg2	A	C	6: 30,810,464	L615*	probably null	Het
Cyp21a1	A	G	17: 34,803,043	L221P	probably damaging	Het
Dnah9	C	A	11: 65,965,681	V2885L	probably damaging	Het
Dnajb13	A	G	7: 100,503,239	L290P	probably damaging	Het
Eif3e	A	G	15: 43,265,561	V221A	probably damaging	Het
Evc	G	A	5: 37,316,357	R511*	probably null	Het
Far2	C	T	6: 148,157,936	P250S	probably damaging	Het
Fmo1	T	A	1: 162,859,427	T44S		Het
Gm21119	T	A	8: 20,634,946	F285I	possibly damaging	Het
Grid1	A	G	14: 35,580,535	E919G	possibly damaging	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
Hoxb2	A	G	11: 96,351,899	E30G	probably damaging	Het
Il5ra	G	A	6: 106,712,370	P75L	unknown	Het
Il5ra	T	A	6: 106,744,336	M1L	possibly damaging	Het
Inpp4b	T	C	8: 81,770,926		probably null	Het
Itgb8	T	A	12: 119,189,973	H269L	possibly damaging	Het
Jrk	G	A	15: 74,706,554	A294V	probably damaging	Het
Knl1	A	T	2: 119,057,301	D2V	probably damaging	Het
Lrrc71	T	C	3: 87,742,951	I272V	possibly damaging	Het
Mdn1	T	C	4: 32,741,372	S3825P	probably damaging	Het
Mex3d	C	A	10: 80,382,295	V363L		Het
Mfsd13b	C	A	7: 120,998,911	H347N	possibly damaging	Het
Mllt1	G	T	17: 56,902,572	H179Q	probably benign	Het
Mmp14	A	T	14: 54,440,612	R563S	probably benign	Het
Ms4a18	T	C	19: 10,997,350	T326A	probably benign	Het
Muc16	T	C	9: 18,638,677	D5440G	probably benign	Het
Muc2	A	T	7: 141,746,822	E294V		Het
Myh7b	A	G	2: 155,617,721	N241S	probably damaging	Het
Myo1b	T	C	1: 51,757,245	I1007V	possibly damaging	Het
Olfr1250	A	G	2: 89,656,661	V260A	possibly damaging	Het
Olfr16	T	C	1: 172,957,326	F177S	probably damaging	Het
Olfr952	T	A	9: 39,426,555	D172V	possibly damaging	Het
Pan2	T	C	10: 128,304,266	S19P	probably benign	Het
Pkp4	A	G	2: 59,347,760	N988D	possibly damaging	Het
Plxdc1	T	C	11: 97,934,018	D344G	probably damaging	Het
Plxna4	C	T	6: 32,215,234	R807H	possibly damaging	Het
Prdm15	A	T	16: 97,821,942	S237T	probably benign	Het
Slc9a2	G	A	1: 40,681,901	V10M	probably benign	Het
Sytl2	T	C	7: 90,375,592	S263P	probably benign	Het
Trrap	G	A	5: 144,840,520	V3043M	probably damaging	Het
Tshz3	C	T	7: 36,771,067	T827I	possibly damaging	Het
Ttll1	T	C	15: 83,500,025	T134A	possibly damaging	Het
Vmn1r196	G	T	13: 22,293,750	M186I	probably damaging	Het
Vrk2	C	T	11: 26,483,157		probably null	Het
Zfp59	T	A	7: 27,855,058	V645E	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
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
R9800:Pkn3	UTSW	2	30083278	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCACATTAGCTGGAGATGCTG -3'
(R):5'- CAAGTTGATGGTTCACACATGGG -3'

Sequencing Primer
(F):5'- ACATTAGCTGGAGATGCTGGGATG -3'
(R):5'- TTCACACATGGGGAAGGCTTC -3'

Posted On

2022-08-09