Mutagenetix > Incidental Mutation

Incidental Mutation 'R1510:Pkn3'

167822

Institutional Source

Beutler Lab

Gene Symbol

Pkn3

Ensembl Gene

ENSMUSG00000026785

Gene Name

protein kinase N3

Synonyms

MMRRC Submission

039557-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1510 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 30079764 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114492 (fasta)

Gene Model

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

probably null
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 null
Transcript: ENSMUST00000150770

SMART Domains

Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785

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

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	T	12: 55,304,212	Q102L	probably benign	Het
1700001L19Rik	T	A	13: 68,597,477	M1K	probably null	Het
Abcd2	A	G	15: 91,188,978	L326S	probably damaging	Het
Adam18	T	A	8: 24,625,831	T616S	probably benign	Het
Adam22	T	C	5: 8,152,408	K215E	probably benign	Het
Ahi1	T	G	10: 20,959,800	S11A	probably benign	Het
Asb18	T	C	1: 89,996,254	M96V	possibly damaging	Het
Baz2b	T	C	2: 59,922,209	D1149G	probably damaging	Het
C1qtnf3	A	G	15: 10,975,636	E176G	probably benign	Het
Cd151	T	A	7: 141,470,367	S172T	probably benign	Het
Cdh2	G	T	18: 16,648,594	L90I	probably benign	Het
Cdkl3	T	C	11: 52,033,514	V55A	possibly damaging	Het
Chst8	T	A	7: 34,675,268	H382L	probably benign	Het
Cyb5r4	T	C	9: 87,066,643		probably benign	Het
Cyp2j13	T	C	4: 96,061,972	D264G	possibly damaging	Het
Daam1	A	G	12: 71,977,726	M814V	probably damaging	Het
Ddx19b	A	G	8: 111,015,653	I150T	probably damaging	Het
Dync1li1	T	G	9: 114,689,210	S50A	possibly damaging	Het
Fat3	A	T	9: 15,960,055	L3680Q	probably damaging	Het
Fermt1	C	T	2: 132,925,022	E342K	probably benign	Het
Gm21286	T	G	4: 60,838,932		noncoding transcript	Het
Il6	T	C	5: 30,018,062	Y126H	probably damaging	Het
Inhba	G	T	13: 16,027,022	V390L	probably damaging	Het
Ino80	C	T	2: 119,450,049	R278H	probably damaging	Het
Jade3	T	G	X: 20,517,818	N799K	probably benign	Het
Kcnn1	G	A	8: 70,864,070		probably benign	Het
Klhl6	T	C	16: 19,947,098	T585A	probably damaging	Het
Kmt2d	T	A	15: 98,856,377		probably benign	Het
Krt17	C	T	11: 100,257,539	E359K	possibly damaging	Het
Lce1b	T	G	3: 92,655,976	R83S	unknown	Het
Lck	T	C	4: 129,555,668	S290G	possibly damaging	Het
Ltbp3	T	C	19: 5,748,887	S544P	probably benign	Het
Lypd6b	T	A	2: 49,934,819	S4R	probably damaging	Het
Macf1	T	C	4: 123,434,762	D4724G	probably null	Het
Mcoln2	A	G	3: 146,176,610	T255A	probably benign	Het
Mcph1	T	A	8: 18,632,687		probably null	Het
Mki67	C	A	7: 135,696,171	R2378L	probably benign	Het
Mxd1	A	G	6: 86,653,155	V27A	possibly damaging	Het
Myo5a	T	C	9: 75,171,551	Y864H	probably benign	Het
Ndel1	A	T	11: 68,822,656	N318K	possibly damaging	Het
Oasl1	A	G	5: 114,928,108	Q95R	probably benign	Het
Olfr1052	T	C	2: 86,298,371	L185P	probably damaging	Het
Olfr1415	A	T	1: 92,491,617	I46N	probably damaging	Het
Olfr198	A	T	16: 59,202,183	M81K	probably damaging	Het
Olfr480	T	C	7: 108,066,528	Y60C	probably damaging	Het
Parp10	T	A	15: 76,241,417	Q487L	probably damaging	Het
Pcdh10	C	T	3: 45,379,403	R51C	probably damaging	Het
Pdpr	A	T	8: 111,124,475		probably benign	Het
Pfpl	A	T	19: 12,429,696	D437V	probably benign	Het
Pik3c2a	G	A	7: 116,388,045	T547I	probably benign	Het
Pkdrej	A	C	15: 85,816,762	S1658A	possibly damaging	Het
Plekhh2	A	G	17: 84,559,576		probably null	Het
Plxdc1	A	T	11: 97,932,324	C357S	probably damaging	Het
Pnp	A	G	14: 50,950,585	T132A	possibly damaging	Het
Rcan2	A	G	17: 43,836,424	D51G	probably damaging	Het
Rcn1	T	C	2: 105,389,089	N253S	probably damaging	Het
Rreb1	T	A	13: 37,931,884	I1073N	probably benign	Het
Scaf4	G	T	16: 90,245,394	D686E	unknown	Het
Sfxn5	A	C	6: 85,236,925	M221R	probably damaging	Het
Slc38a1	A	G	15: 96,609,860	F104L	probably damaging	Het
Slc8a1	A	T	17: 81,648,118	V497D	probably damaging	Het
Spryd3	C	A	15: 102,118,961	G290C	probably damaging	Het
Stc2	A	T	11: 31,365,418	Y140*	probably null	Het
Stfa2	A	T	16: 36,408,311	I8K	possibly damaging	Het
Sult3a2	A	T	10: 33,782,030	M29K	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Triobp	G	A	15: 79,003,767	R1908Q	probably damaging	Het
Trpm2	T	A	10: 77,966,994	R7*	probably null	Het
Ttn	T	C	2: 76,952,157	I912V	probably benign	Het
Tusc2	T	A	9: 107,564,881	V93E	probably damaging	Het
Uhrf2	T	A	19: 30,039,061		probably benign	Het
Umodl1	G	A	17: 30,959,229	V60M	probably damaging	Het
Ush2a	A	T	1: 188,648,304	D2270V	probably damaging	Het
Vmn2r80	A	G	10: 79,169,719	T397A	possibly damaging	Het
Wbp2	A	G	11: 116,086,882	V15A	probably benign	Het
Zfp182	T	A	X: 21,030,207	R617W	probably damaging	Het
Zfp82	C	A	7: 30,056,622	R345L	probably damaging	Het
Zfp85	T	C	13: 67,754,965		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
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'- GTGTAAACCTCAGTACCCAGAAGGC -3'
(R):5'- TGCAACACAAGGCTAGAGTTCAGAC -3'

Sequencing Primer
(F):5'- CAGGGTAGGCTAAGACTTCTC -3'
(R):5'- TCAAAGCCAAGGCCAGGATT -3'

Posted On

2014-04-13