Mutagenetix > Incidental Mutation

Incidental Mutation 'R4826:Pkn2'

374130

Institutional Source

Beutler Lab

Gene Symbol

Pkn2

Ensembl Gene

ENSMUSG00000004591

Gene Name

protein kinase N2

Synonyms

PRK2, Stk7, Prkcl2, 6030436C20Rik

MMRRC Submission

042442-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142790902-142882004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142809509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 640 (K640R)

Ref Sequence

ENSEMBL: ENSMUSP00000133691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043812] [ENSMUST00000173830] [ENSMUST00000173913] [ENSMUST00000174422]

AlphaFold

Q8BWW9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043812
AA Change: K688R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: K688R

Domain	Start	End	E-Value	Type
Hr1	47	110	3.61e-20	SMART
Hr1	136	204	6.1e-18	SMART
Hr1	217	285	6.05e-22	SMART
C2	329	462	2.72e-8	SMART
low complexity region	535	546	N/A	INTRINSIC
low complexity region	570	578	N/A	INTRINSIC
S_TKc	656	915	7.94e-100	SMART
S_TK_X	916	980	6.77e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172521

Predicted Effect

probably benign
Transcript: ENSMUST00000173615

Predicted Effect

probably damaging
Transcript: ENSMUST00000173830
AA Change: K640R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: K640R

Domain	Start	End	E-Value	Type
Hr1	47	110	3.61e-20	SMART
Hr1	136	204	6.1e-18	SMART
Hr1	217	285	6.05e-22	SMART
low complexity region	364	380	N/A	INTRINSIC
low complexity region	487	498	N/A	INTRINSIC
low complexity region	522	530	N/A	INTRINSIC
S_TKc	608	867	7.94e-100	SMART
S_TK_X	868	932	6.77e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174169

Predicted Effect

probably damaging
Transcript: ENSMUST00000174422
AA Change: K672R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: K672R

Domain	Start	End	E-Value	Type
Hr1	47	110	3.61e-20	SMART
Hr1	136	204	6.1e-18	SMART
Hr1	217	285	6.05e-22	SMART
C2	329	446	2.92e-8	SMART
low complexity region	519	530	N/A	INTRINSIC
low complexity region	554	562	N/A	INTRINSIC
S_TKc	640	899	7.94e-100	SMART
S_TK_X	900	964	6.77e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174680

SMART Domains

Protein: ENSMUSP00000134041
Gene: ENSMUSG00000004591

Domain	Start	End	E-Value	Type
Hr1	1	67	1.33e-18	SMART
C2	72	182	3.51e-2	SMART

Meta Mutation Damage Score

0.2332

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis with impaired mesenchymal cell proliferation and neural crest cell migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	G	T	18: 12,185,779		probably benign	Het
Abca14	A	T	7: 120,216,247	R239S	probably damaging	Het
Acin1	A	G	14: 54,664,617	S573P	probably damaging	Het
Acta2	A	T	19: 34,251,823	Y55*	probably null	Het
Aifm2	T	C	10: 61,725,989	M38T	probably benign	Het
Ank2	C	A	3: 126,956,001	V460L	probably benign	Het
Ap1b1	T	C	11: 5,018,043	S185P	probably benign	Het
Arsj	A	G	3: 126,438,802	Y399C	probably damaging	Het
Clec2d	T	C	6: 129,184,159	V73A	probably benign	Het
Cntln	T	G	4: 85,005,044	M582R	probably benign	Het
Cyp4a10	C	T	4: 115,518,344	P8L	probably benign	Het
Dip2b	A	G	15: 100,169,281	N555D	probably damaging	Het
Dusp4	T	A	8: 34,818,517	F311I	probably damaging	Het
Eif4g3	T	C	4: 138,177,945	V1245A	possibly damaging	Het
Ephb3	G	A	16: 21,214,995	R23H	possibly damaging	Het
Ext2	T	C	2: 93,762,630	T410A	probably benign	Het
Fam193a	A	G	5: 34,436,531	E124G	probably damaging	Het
Fat4	T	A	3: 38,982,957	V3586E	probably damaging	Het
Frmd4a	T	C	2: 4,601,297	S611P	probably damaging	Het
Gcn1l1	A	G	5: 115,593,693	T956A	probably benign	Het
Gm10549	C	A	18: 33,470,785	T107K	unknown	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Herc6	T	A	6: 57,647,087	M614K	probably benign	Het
Hspg2	T	C	4: 137,565,395	C4095R	probably damaging	Het
Hyal5	T	C	6: 24,891,576	I463T	possibly damaging	Het
Icam5	C	T	9: 21,037,803	A817V	possibly damaging	Het
Igf2r	A	T	17: 12,701,353	D1366E	probably damaging	Het
Ints7	G	A	1: 191,611,906	V553I	probably damaging	Het
Iqgap2	T	A	13: 95,763,275	I92F	probably damaging	Het
Itgb1	T	A	8: 128,720,308	C435S	probably damaging	Het
Lrrc71	T	C	3: 87,743,308	M216V	probably benign	Het
Mgam	T	C	6: 40,680,648	V979A	possibly damaging	Het
Myh9	A	T	15: 77,788,946	Y400*	probably null	Het
Narfl	A	G	17: 25,780,332	H240R	probably damaging	Het
Nbeal1	A	G	1: 60,251,342	R1033G	possibly damaging	Het
Nit1	T	C	1: 171,345,598		probably benign	Het
Nlrp1c-ps	A	G	11: 71,242,517		noncoding transcript	Het
Nt5c1a	T	C	4: 123,208,572	V97A	probably damaging	Het
Olfr1154	T	A	2: 87,903,349	D109V	probably damaging	Het
Olfr358	A	G	2: 37,005,333	Y94H	probably damaging	Het
Olfr43	A	G	11: 74,206,331	M295T	possibly damaging	Het
Olfr46	T	A	7: 140,610,319	M51K	probably benign	Het
Olfr683	G	T	7: 105,143,968	N108K	probably damaging	Het
Pde4a	T	A	9: 21,192,380		probably null	Het
Pla2g6	A	G	15: 79,308,679	S263P	possibly damaging	Het
Prkg1	A	G	19: 31,764,606	S73P	possibly damaging	Het
Prr27	A	C	5: 87,850,966		probably benign	Het
Rad54b	G	T	4: 11,599,753	W319L	probably damaging	Het
Rassf8	T	A	6: 145,816,550	L349H	probably damaging	Het
Rnf113a2	T	A	12: 84,417,614	N93K	probably benign	Het
Sapcd2	C	T	2: 25,372,756	A109V	probably benign	Het
Slamf9	C	A	1: 172,476,441	H118N	probably benign	Het
Slc37a1	A	G	17: 31,322,173	Y213C	probably damaging	Het
Slc5a1	A	G	5: 33,159,150	D580G	probably benign	Het
Slc7a2	T	A	8: 40,911,046	I432N	probably damaging	Het
Tas2r114	A	T	6: 131,689,837	L76Q	probably damaging	Het
Tcerg1	C	T	18: 42,535,115	P391L	unknown	Het
Tdrd12	A	C	7: 35,504,157	V314G	probably benign	Het
Zbtb7b	A	G	3: 89,380,773	L246S	probably benign	Het

Other mutations in Pkn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Pkn2	APN	3	142799019	missense	probably damaging	1.00
IGL00852:Pkn2	APN	3	142809816	unclassified	probably benign
IGL00917:Pkn2	APN	3	142853625	missense	probably damaging	1.00
IGL01147:Pkn2	APN	3	142829009	missense	probably benign	0.06
IGL01556:Pkn2	APN	3	142829317	missense	possibly damaging	0.88
IGL01574:Pkn2	APN	3	142839231	missense	possibly damaging	0.48
IGL02058:Pkn2	APN	3	142803663	missense	probably damaging	0.97
IGL02136:Pkn2	APN	3	142853590	missense	probably damaging	1.00
IGL02310:Pkn2	APN	3	142811580	missense	probably damaging	1.00
IGL02540:Pkn2	APN	3	142809704	missense	probably benign	0.01
IGL02607:Pkn2	APN	3	142794101	critical splice donor site	probably null
IGL03256:Pkn2	APN	3	142803550	splice site	probably null
voodoo	UTSW	3	142853538	missense	possibly damaging	0.78
R0001:Pkn2	UTSW	3	142828988	missense	probably benign	0.00
R0048:Pkn2	UTSW	3	142810827	missense	probably damaging	1.00
R0081:Pkn2	UTSW	3	142853582	missense	probably damaging	1.00
R0514:Pkn2	UTSW	3	142810458	missense	possibly damaging	0.76
R0670:Pkn2	UTSW	3	142839343	missense	probably damaging	0.99
R0709:Pkn2	UTSW	3	142830520	missense	probably damaging	0.98
R1025:Pkn2	UTSW	3	142821565	critical splice donor site	probably null
R1190:Pkn2	UTSW	3	142811525	critical splice donor site	probably null
R1602:Pkn2	UTSW	3	142853538	missense	possibly damaging	0.78
R1729:Pkn2	UTSW	3	142810701	missense	probably benign	0.00
R1756:Pkn2	UTSW	3	142810727	missense	possibly damaging	0.94
R1764:Pkn2	UTSW	3	142793854	missense	probably damaging	1.00
R1797:Pkn2	UTSW	3	142809528	missense	probably damaging	1.00
R1833:Pkn2	UTSW	3	142821647	missense	probably damaging	1.00
R2035:Pkn2	UTSW	3	142820587	missense	probably damaging	0.99
R2058:Pkn2	UTSW	3	142853471	missense	possibly damaging	0.93
R3779:Pkn2	UTSW	3	142793980	missense	possibly damaging	0.89
R3940:Pkn2	UTSW	3	142793911	missense	probably damaging	1.00
R3967:Pkn2	UTSW	3	142809677	missense	probably damaging	0.98
R4008:Pkn2	UTSW	3	142810458	missense	possibly damaging	0.76
R4160:Pkn2	UTSW	3	142803564	missense	probably benign	0.42
R4222:Pkn2	UTSW	3	142793866	nonsense	probably null
R4243:Pkn2	UTSW	3	142820578	missense	possibly damaging	0.64
R4380:Pkn2	UTSW	3	142830456	unclassified	probably benign
R4869:Pkn2	UTSW	3	142803618	missense	probably damaging	1.00
R5096:Pkn2	UTSW	3	142839331	missense	probably damaging	0.99
R5175:Pkn2	UTSW	3	142798923	missense	probably damaging	1.00
R5301:Pkn2	UTSW	3	142839206	critical splice donor site	probably null
R5839:Pkn2	UTSW	3	142821529	missense	probably benign	0.02
R6155:Pkn2	UTSW	3	142853693	missense	probably benign	0.00
R6198:Pkn2	UTSW	3	142810404	missense	probably benign	0.00
R6255:Pkn2	UTSW	3	142811599	missense	probably damaging	1.00
R6293:Pkn2	UTSW	3	142809704	missense	probably benign	0.15
R6494:Pkn2	UTSW	3	142803668	missense	possibly damaging	0.94
R6659:Pkn2	UTSW	3	142803587	missense	probably damaging	1.00
R6809:Pkn2	UTSW	3	142799004	missense	probably damaging	1.00
R7267:Pkn2	UTSW	3	142812015	missense	possibly damaging	0.90
R7367:Pkn2	UTSW	3	142810727	missense	probably benign	0.00
R7746:Pkn2	UTSW	3	142794107	missense	probably damaging	1.00
R7940:Pkn2	UTSW	3	142810719	missense	probably benign	0.00
R8324:Pkn2	UTSW	3	142829010	missense	probably benign	0.15
R8847:Pkn2	UTSW	3	142820640	missense	probably benign	0.29
R8947:Pkn2	UTSW	3	142811913	critical splice donor site	probably null
R9096:Pkn2	UTSW	3	142809488	missense	probably benign	0.03
R9097:Pkn2	UTSW	3	142809488	missense	probably benign	0.03
R9130:Pkn2	UTSW	3	142809484	missense	possibly damaging	0.51
R9226:Pkn2	UTSW	3	142793948	missense	probably damaging	1.00
R9267:Pkn2	UTSW	3	142811915	missense	probably null	0.97
R9277:Pkn2	UTSW	3	142810748	missense	probably benign	0.01
R9308:Pkn2	UTSW	3	142811963	missense	probably benign	0.21
R9372:Pkn2	UTSW	3	142829257	missense	probably damaging	0.99
R9551:Pkn2	UTSW	3	142793833	missense	probably damaging	1.00
R9552:Pkn2	UTSW	3	142793833	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAACCTGGCTTAAGGGAAAG -3'
(R):5'- AGGTTTCAGTTCAGTCTACAGGAC -3'

Sequencing Primer
(F):5'- CCTGGCTTAAGGGAAAGAGGTGAC -3'
(R):5'- GTCTACAGGACTTCAGGTGC -3'

Posted On

2016-03-01