Mutagenetix > Incidental Mutation

Incidental Mutation 'R8720:Pkn3'

670055

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 #

R8720 (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 30085184 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 486 (N486D)

Ref Sequence

ENSEMBL: ENSMUSP00000041025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045246] [ENSMUST00000125346]

AlphaFold

Q8K045

Predicted Effect

probably benign
Transcript: ENSMUST00000045246
AA Change: N486D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: N486D

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: ENSMUST00000125346

SMART Domains

Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	G	1: 37,613,441	F1095S	possibly damaging	Het
Aldh3a1	T	C	11: 61,213,479	V64A	probably benign	Het
Anln	T	C	9: 22,373,277	H379R	probably benign	Het
Asb2	A	G	12: 103,325,421	Y416H	probably damaging	Het
Atp2b4	TTCTTC	TTCTTCGTCTTC	1: 133,701,727		probably benign	Het
Casc1	G	T	6: 145,205,257	R30S	unknown	Het
Chsy1	T	A	7: 66,171,340	M441K	possibly damaging	Het
Cmas	A	G	6: 142,771,203	K274E	probably damaging	Het
Cmip	A	G	8: 117,411,271	Y75C	probably damaging	Het
Col17a1	T	A	19: 47,649,092		probably benign	Het
Col3a1	A	G	1: 45,347,733	Y1368C	unknown	Het
Cspg4	C	T	9: 56,887,513	T844I	probably benign	Het
Ect2	A	T	3: 27,115,498	N766K	probably damaging	Het
Fanci	C	A	7: 79,439,677	Q954K	possibly damaging	Het
Gm30083	A	G	14: 34,014,938	S21P	probably benign	Het
Gm5724	A	T	6: 141,723,126	S527T	probably benign	Het
Gulo	C	T	14: 65,987,625	E422K	probably benign	Het
Helq	A	G	5: 100,766,695	V977A	probably damaging	Het
Herc1	A	G	9: 66,481,823	D3874G	probably benign	Het
Hsf4	G	T	8: 105,269,973	D34Y	probably damaging	Het
Il18	G	A	9: 50,565,384		probably benign	Het
Il22ra2	A	T	10: 19,632,851	E209V	probably damaging	Het
Ino80	A	T	2: 119,402,387	L1150Q	probably damaging	Het
Kif16b	A	G	2: 142,849,872	F231L	probably damaging	Het
Krtap19-4	A	G	16: 88,884,958	Y37H	unknown	Het
Lama4	A	T	10: 39,095,083	D1548V	probably damaging	Het
Lrig2	C	T	3: 104,511,682	A4T	probably damaging	Het
Lrp4	A	T	2: 91,494,114	I1265F	probably damaging	Het
Muc16	T	A	9: 18,641,600	T4466S	probably benign	Het
Myo1e	A	G	9: 70,297,288	I57V	possibly damaging	Het
Naip2	A	T	13: 100,162,122	Y469N	probably benign	Het
Nav1	G	A	1: 135,460,726	R1065C	unknown	Het
Nps	C	T	7: 135,272,316	R72C	probably damaging	Het
Nup210l	G	A	3: 90,210,374	V1796I	probably benign	Het
Pdzd7	T	C	19: 45,036,228	K451E	probably benign	Het
Pigv	A	T	4: 133,665,657	D67E	probably damaging	Het
Pik3cg	A	T	12: 32,193,689	F928I	probably benign	Het
Ppp2r3a	A	G	9: 101,211,885	L413P	probably damaging	Het
Rbm45	G	T	2: 76,380,367	R414L	probably damaging	Het
Sap30l	A	T	11: 57,808,049	N116I	probably damaging	Het
Slc17a5	A	T	9: 78,578,663	F47I	probably damaging	Het
Srbd1	A	T	17: 86,051,143	D659E	probably damaging	Het
Sycp3	A	G	10: 88,462,532	Q40R	probably benign	Het
Trip13	T	C	13: 73,915,471	S374G	probably benign	Het
Ubr4	T	C	4: 139,480,838		probably null	Het
Ush2a	G	A	1: 188,358,518	V449I	probably benign	Het
Vmn1r211	A	T	13: 22,851,861	V212D	probably damaging	Het
Vmn2r111	T	A	17: 22,573,213	I21F	possibly damaging	Het
Zmiz2	A	T	11: 6,399,904	I491F	possibly 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
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
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'- ATGAACCTCAGCATGGCAGC -3'
(R):5'- GACAGATGGCTTCAGGACAG -3'

Sequencing Primer
(F):5'- CTGGTCATGAGCTTGCTGCC -3'
(R):5'- GCTTCAGGACAGCAGTTACTGAC -3'

Posted On

2021-04-30