Mutagenetix > Incidental Mutation

Incidental Mutation 'R4772:Pkn3'

367576

Institutional Source

Beutler Lab

Gene Symbol

Pkn3

Ensembl Gene

ENSMUSG00000026785

Gene Name

protein kinase N3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4772 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 30084680 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045246] [ENSMUST00000125346] [ENSMUST00000150770]

AlphaFold

Q8K045

Predicted Effect

probably null
Transcript: ENSMUST00000045246

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148650

Predicted Effect

probably benign
Transcript: ENSMUST00000150770

SMART Domains

Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785

Domain	Start	End	E-Value	Type
Hr1	28	91	3.45e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156197

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

95% (74/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,315,339		probably null	Het
Adamts19	A	G	18: 58,837,776	Q144R	possibly damaging	Het
Adgrb3	C	A	1: 25,531,875	C507F	probably damaging	Het
Atg9b	T	C	5: 24,385,239	*923W	probably null	Het
Atp13a4	T	C	16: 29,420,835		probably benign	Het
Baz2b	G	T	2: 59,958,451	R697S	probably damaging	Het
Bicdl1	A	G	5: 115,661,478	I184T	probably benign	Het
Bpifb4	C	T	2: 153,942,983	L204F	possibly damaging	Het
Cep120	C	T	18: 53,718,489	R577Q	probably damaging	Het
Cplx4	T	C	18: 65,969,977	E24G	possibly damaging	Het
D430042O09Rik	A	G	7: 125,865,351	S1297G	probably damaging	Het
Dcxr	T	C	11: 120,726,097	T147A	probably benign	Het
Dnajc10	C	A	2: 80,340,526	H454N	probably damaging	Het
Dsp	G	T	13: 38,167,528	G108*	probably null	Het
Entpd6	T	A	2: 150,767,094	I366K	probably damaging	Het
Fam111a	A	G	19: 12,587,693	K269E	probably benign	Het
Grid2ip	T	G	5: 143,375,700	V222G	possibly damaging	Het
Hmcn2	T	G	2: 31,445,314	V4421G	probably benign	Het
Ifi207	T	C	1: 173,727,687	T817A	probably damaging	Het
Irak2	A	T	6: 113,693,722	E533V	probably damaging	Het
Kbtbd6	T	C	14: 79,452,156	F97S	probably damaging	Het
Kctd14	A	T	7: 97,457,676	E99V	probably damaging	Het
Klhl10	A	T	11: 100,447,731	Y432F	probably benign	Het
Lrrc49	T	C	9: 60,685,052	N53S	possibly damaging	Het
Mief2	T	A	11: 60,730,462		probably benign	Het
Mog	A	T	17: 37,023,157	S15T	unknown	Het
Mpi	T	C	9: 57,544,898	D365G	probably damaging	Het
Mpp7	A	G	18: 7,379,983		probably null	Het
Nes	A	G	3: 87,976,179	T582A	probably benign	Het
Nlrp14	A	G	7: 107,181,186	D5G	probably benign	Het
Nr1i3	C	T	1: 171,217,150	T218I	probably damaging	Het
Nup43	C	T	10: 7,678,669	R339*	probably null	Het
Nupl1	T	A	14: 60,220,022	R577S	probably benign	Het
Olfr1016	G	A	2: 85,799,994	S92F	probably damaging	Het
Olfr1161	T	A	2: 88,024,863	I47K	probably damaging	Het
Olfr503	T	A	7: 108,544,885	M120K	probably damaging	Het
Olfr724	AAATTTGAA	AAA	14: 49,960,995		probably benign	Het
Olfr768	A	T	10: 129,093,668	V102D	possibly damaging	Het
Olfr908	C	T	9: 38,516,601		probably benign	Het
Orc1	T	C	4: 108,579,568		probably benign	Het
Pax6	C	A	2: 105,696,502	P251Q	probably benign	Het
Phactr3	C	T	2: 178,283,936	R330W	probably damaging	Het
Phldb1	G	A	9: 44,711,027	R81W	probably damaging	Het
Pip5k1c	C	T	10: 81,315,940	P656L	probably benign	Het
Plcb2	T	A	2: 118,713,134	H752L	probably benign	Het
Plch1	G	A	3: 63,753,325	T291M	probably damaging	Het
Plekhg1	A	T	10: 3,873,127	M32L	probably benign	Het
Plekhg1	A	T	10: 3,873,130	T33S	probably damaging	Het
Plk4	A	G	3: 40,805,190	T174A	probably damaging	Het
Ppip5k2	C	A	1: 97,721,067		probably benign	Het
Prl2a1	G	A	13: 27,804,978	V29M	probably benign	Het
R3hcc1l	T	C	19: 42,583,557		probably benign	Het
Rasa3	C	T	8: 13,598,289	G125D	probably damaging	Het
Sema3f	A	T	9: 107,689,720	Y136*	probably null	Het
Slc13a5	T	A	11: 72,250,846		probably null	Het
Slc16a1	T	C	3: 104,653,564	V395A	possibly damaging	Het
Sparcl1	C	T	5: 104,088,490	A466T	probably benign	Het
Srrm1	G	A	4: 135,342,379		probably benign	Het
Styxl1	G	A	5: 135,768,901	R50*	probably null	Het
Tex264	T	A	9: 106,673,702	I99F	possibly damaging	Het
Tgtp2	T	C	11: 49,058,984	T254A	probably damaging	Het
Tmem245	A	C	4: 56,937,989		probably null	Het
Tnik	A	T	3: 28,607,210	T587S	probably benign	Het
Tpr	T	G	1: 150,413,113	S648A	possibly damaging	Het
Ttn	T	C	2: 76,765,969	E18454G	probably damaging	Het
Utp20	A	C	10: 88,809,935	H527Q	probably benign	Het
Vmn1r1	A	T	1: 182,157,546	S185T	probably benign	Het
Vps54	C	T	11: 21,312,952	H680Y	probably damaging	Het
Vwa5b2	A	G	16: 20,600,803		probably null	Het
Wscd1	T	C	11: 71,771,976		probably null	Het
Zbtb41	C	T	1: 139,447,414	P871S	probably damaging	Het
Zcchc4	T	C	5: 52,796,207	L186P	possibly damaging	Het
Zdhhc13	A	G	7: 48,799,873	Y73C	probably benign	Het
Zfp12	A	G	5: 143,240,000	E21G	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
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'- CTAGGTCCTCTGAGTTTTGCT -3'
(R):5'- TGAAATCCCGGCCTAGAGGAG -3'

Sequencing Primer
(F):5'- CCAGTACCACTTGTCTAGGGAATG -3'
(R):5'- CCTAGAGGAGGCAGGCG -3'

Posted On

2015-12-29