Mutagenetix > Incidental Mutation

Incidental Mutation 'R4739:Pkn1'

359529

Institutional Source

Beutler Lab

Gene Symbol

Pkn1

Ensembl Gene

ENSMUSG00000057672

Gene Name

protein kinase N1

Synonyms

PAK1, Stk3, Pkn, Prkcl1, F730027O18Rik, PRK1

MMRRC Submission

042025-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84393165-84425808 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84398378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 763 (V763G)

Ref Sequence

ENSEMBL: ENSMUSP00000116235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005616] [ENSMUST00000019608] [ENSMUST00000132945] [ENSMUST00000144258]

AlphaFold

P70268

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005616
AA Change: V758G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672
AA Change: V758G

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
Hr1	37	101	6.74e-20	SMART
Hr1	126	194	1.13e-21	SMART
Hr1	216	284	7.79e-25	SMART
C2	328	464	2.45e-1	SMART
low complexity region	569	601	N/A	INTRINSIC
S_TKc	619	878	2.83e-96	SMART
S_TK_X	879	943	5.29e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000019608

SMART Domains

Protein: ENSMUSP00000019608
Gene: ENSMUSG00000019464

Domain	Start	End	E-Value	Type
Pfam:7tm_1	52	354	2.3e-17	PFAM
low complexity region	356	372	N/A	INTRINSIC
low complexity region	392	405	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128523

Predicted Effect

probably benign
Transcript: ENSMUST00000132945

SMART Domains

Protein: ENSMUSP00000115054
Gene: ENSMUSG00000057672

Domain	Start	End	E-Value	Type
low complexity region	27	42	N/A	INTRINSIC
Hr1	49	113	6.74e-20	SMART
Hr1	138	206	1.13e-21	SMART
Hr1	228	296	7.79e-25	SMART
C2	340	476	2.45e-1	SMART
low complexity region	581	613	N/A	INTRINSIC
Pfam:Pkinase	631	756	2.2e-23	PFAM
Pfam:Pkinase_Tyr	631	757	1.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138898

Predicted Effect

probably damaging
Transcript: ENSMUST00000144258
AA Change: V763G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116235
Gene: ENSMUSG00000057672
AA Change: V763G

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
Hr1	42	106	6.74e-20	SMART
Hr1	131	199	1.13e-21	SMART
Hr1	221	289	7.79e-25	SMART
C2	333	469	2.45e-1	SMART
low complexity region	574	606	N/A	INTRINSIC
S_TKc	624	883	2.83e-96	SMART
S_TK_X	884	948	5.29e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212519

Meta Mutation Damage Score

0.7827

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

96% (102/106)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spontaneously formed GCs and developed an autoimmune-like disease with autoantibody production and glomerulonephritis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	T	1: 158,796,904 (GRCm39)		noncoding transcript	Het
2300002M23Rik	A	G	17: 35,878,403 (GRCm39)		probably benign	Het
Aadat	T	C	8: 60,993,140 (GRCm39)	V360A	probably benign	Het
Abcc5	T	A	16: 20,218,376 (GRCm39)	D283V	probably damaging	Het
Abraxas1	T	A	5: 100,959,886 (GRCm39)	K155N	probably damaging	Het
Acot3	T	C	12: 84,105,364 (GRCm39)	I277T	probably benign	Het
Ankrd45	G	A	1: 160,982,960 (GRCm39)	C157Y	probably damaging	Het
Apol10a	C	T	15: 77,372,841 (GRCm39)	T159I	possibly damaging	Het
Arhgef11	G	A	3: 87,605,306 (GRCm39)	V214M	possibly damaging	Het
Ash1l	A	C	3: 88,890,152 (GRCm39)	N677T	probably benign	Het
Atg13	A	G	2: 91,515,040 (GRCm39)	S254P	probably damaging	Het
Atg16l2	A	G	7: 100,946,385 (GRCm39)	L129P	probably damaging	Het
Avl9	T	A	6: 56,703,294 (GRCm39)	V120D	probably damaging	Het
Castor1	A	G	11: 4,169,004 (GRCm39)	E57G	possibly damaging	Het
Cc2d1b	T	C	4: 108,485,239 (GRCm39)	V527A	probably benign	Het
Ccnl1	A	G	3: 65,854,092 (GRCm39)		probably benign	Het
Cenpl	T	A	1: 160,910,837 (GRCm39)	D261E	probably damaging	Het
Cep192	T	G	18: 67,984,803 (GRCm39)	I1604M	probably benign	Het
Cep95	A	G	11: 106,706,560 (GRCm39)	I573V	probably benign	Het
Cfap100	A	G	6: 90,389,825 (GRCm39)		probably null	Het
Ciao3	A	T	17: 26,000,283 (GRCm39)	H322L	probably damaging	Het
Cmc1	T	A	9: 117,904,245 (GRCm39)	M49L	probably benign	Het
Cyfip2	G	T	11: 46,170,820 (GRCm39)	N176K	probably damaging	Het
Cyp2w1	T	C	5: 139,342,430 (GRCm39)	F408L	probably damaging	Het
D630045J12Rik	G	A	6: 38,172,971 (GRCm39)	S399F	possibly damaging	Het
Dcbld2	T	A	16: 58,281,339 (GRCm39)	L528Q	probably damaging	Het
Dip2b	T	C	15: 100,105,658 (GRCm39)	V1138A	probably damaging	Het
Dip2c	T	A	13: 9,583,375 (GRCm39)	L119Q	probably damaging	Het
Dnah3	T	C	7: 119,677,169 (GRCm39)	D444G	possibly damaging	Het
Dsg1c	A	T	18: 20,408,246 (GRCm39)	N432Y	possibly damaging	Het
Dst	T	A	1: 34,230,228 (GRCm39)	I2785N	probably benign	Het
Dynap	A	T	18: 70,374,296 (GRCm39)	Y77N	possibly damaging	Het
Eif4g3	T	C	4: 137,910,510 (GRCm39)	L1330P	possibly damaging	Het
Eif4g3	T	A	4: 137,925,408 (GRCm39)	S1584T	probably benign	Het
Enpp1	A	T	10: 24,555,146 (GRCm39)	C67S	probably null	Het
Enpp5	C	T	17: 44,392,027 (GRCm39)	T152I	probably damaging	Het
Erbb4	T	C	1: 68,383,059 (GRCm39)	M313V	probably damaging	Het
Erc2	T	G	14: 27,498,838 (GRCm39)	L238R	probably damaging	Het
Eya3	T	A	4: 132,448,698 (GRCm39)		probably benign	Het
Farp1	T	C	14: 121,476,199 (GRCm39)	F339L	probably damaging	Het
Fsip2	A	C	2: 82,805,697 (GRCm39)	D672A	possibly damaging	Het
Gap43	G	T	16: 42,112,581 (GRCm39)	P60Q	probably benign	Het
Gpr37l1	T	A	1: 135,094,783 (GRCm39)	I154F	probably damaging	Het
Greb1	A	G	12: 16,746,329 (GRCm39)	S1314P	probably damaging	Het
Hectd4	A	T	5: 121,486,505 (GRCm39)	M3167L	probably benign	Het
Hps3	C	T	3: 20,084,574 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,436,013 (GRCm39)	C178R	probably benign	Het
Hspg2	T	A	4: 137,297,384 (GRCm39)		probably benign	Het
Impdh2-ps	A	G	8: 100,757,839 (GRCm39)		noncoding transcript	Het
Josd2	T	A	7: 44,120,678 (GRCm39)	N138K	probably damaging	Het
Mtmr6	T	G	14: 60,529,546 (GRCm39)	M315R	probably damaging	Het
Mtrf1	G	A	14: 79,650,520 (GRCm39)	V323M	probably damaging	Het
Myo16	G	T	8: 10,423,527 (GRCm39)	G288W	probably damaging	Het
Myo18a	T	C	11: 77,714,149 (GRCm39)	Y748H	probably damaging	Het
Nek1	A	T	8: 61,551,545 (GRCm39)	N853I	probably benign	Het
Npnt	T	G	3: 132,610,452 (GRCm39)	T272P	possibly damaging	Het
Obi1	C	T	14: 104,747,819 (GRCm39)	D43N	probably damaging	Het
Or2ag1b	C	A	7: 106,288,351 (GRCm39)	E196*	probably null	Het
Or2b6	T	A	13: 21,823,340 (GRCm39)	M118L	possibly damaging	Het
Or2y17	G	A	11: 49,232,148 (GRCm39)	G263D	probably benign	Het
Or51e1	T	A	7: 102,359,378 (GRCm39)	I304N	probably damaging	Het
Or52n2c	G	A	7: 104,574,017 (GRCm39)	T318I	possibly damaging	Het
Or5a1	A	G	19: 12,097,234 (GRCm39)	Y269H	possibly damaging	Het
Pappa2	T	C	1: 158,784,582 (GRCm39)	R143G	probably benign	Het
Pappa2	T	G	1: 158,784,572 (GRCm39)	D146A	probably damaging	Het
Pcsk9	C	T	4: 106,304,353 (GRCm39)	G496R	probably damaging	Het
Pes1	A	G	11: 3,914,058 (GRCm39)	K8E	probably damaging	Het
Phlpp2	G	A	8: 110,667,052 (GRCm39)	G1194S	probably damaging	Het
Pkp2	C	A	16: 16,048,588 (GRCm39)	A331E	probably damaging	Het
Plb1	T	A	5: 32,507,023 (GRCm39)		probably null	Het
Plxna1	A	T	6: 89,309,657 (GRCm39)		probably null	Het
Polq	C	T	16: 36,862,109 (GRCm39)	T264M	probably damaging	Het
Prkag3	T	C	1: 74,779,864 (GRCm39)	*490W	probably null	Het
Prl2c1	T	C	13: 28,041,661 (GRCm39)	C228R	probably damaging	Het
Pus7l	T	C	15: 94,438,591 (GRCm39)	S85G	probably benign	Het
Rfc3	A	C	5: 151,568,241 (GRCm39)		probably benign	Het
Riox2	A	G	16: 59,309,732 (GRCm39)	N362S	probably benign	Het
Scaper	A	T	9: 55,650,932 (GRCm39)	D904E	probably damaging	Het
Scn11a	T	C	9: 119,583,627 (GRCm39)	M1663V	probably benign	Het
Slc13a3	A	T	2: 165,272,209 (GRCm39)	I278N	possibly damaging	Het
Slc22a7	T	C	17: 46,745,923 (GRCm39)	E278G	probably damaging	Het
Snrnp48	T	A	13: 38,393,893 (GRCm39)	M66K	probably damaging	Het
Styk1	T	G	6: 131,277,429 (GRCm39)	E404A	probably damaging	Het
Synj1	T	A	16: 90,752,307 (GRCm39)	H1016L	probably benign	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tjp2	T	C	19: 24,097,475 (GRCm39)		probably null	Het
Tmem87a	A	G	2: 120,190,518 (GRCm39)		probably null	Het
Trappc9	T	G	15: 72,808,909 (GRCm39)	Y718S	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Ugt2a3	C	T	5: 87,475,054 (GRCm39)	G397R	probably damaging	Het
Wdr33	T	A	18: 32,019,139 (GRCm39)	M454K	probably benign	Het
Wdtc1	G	T	4: 133,029,110 (GRCm39)	N325K	possibly damaging	Het
Whrn	T	C	4: 63,336,402 (GRCm39)	H720R	probably damaging	Het
Xirp2	A	T	2: 67,349,609 (GRCm39)	D3268V	probably damaging	Het
Zc3h7a	A	T	16: 10,959,573 (GRCm39)	H793Q	probably damaging	Het
Zfp518b	C	T	5: 38,831,841 (GRCm39)	A55T	possibly damaging	Het
Zmynd8	G	A	2: 165,647,249 (GRCm39)	T901M	probably damaging	Het

Other mutations in Pkn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Pkn1	APN	8	84,407,635 (GRCm39)	missense	probably damaging	0.96
IGL02058:Pkn1	APN	8	84,407,854 (GRCm39)	nonsense	probably null
IGL03142:Pkn1	APN	8	84,397,652 (GRCm39)	missense	possibly damaging	0.85
Xinjiang	UTSW	8	84,419,556 (GRCm39)	nonsense	probably null
R0115:Pkn1	UTSW	8	84,397,658 (GRCm39)	missense	probably damaging	0.99
R0157:Pkn1	UTSW	8	84,419,449 (GRCm39)	missense	probably damaging	1.00
R0304:Pkn1	UTSW	8	84,410,236 (GRCm39)	splice site	probably benign
R0450:Pkn1	UTSW	8	84,398,953 (GRCm39)	missense	probably damaging	1.00
R0469:Pkn1	UTSW	8	84,398,953 (GRCm39)	missense	probably damaging	1.00
R1419:Pkn1	UTSW	8	84,400,151 (GRCm39)	missense	probably damaging	0.99
R1539:Pkn1	UTSW	8	84,396,966 (GRCm39)	missense	possibly damaging	0.49
R2025:Pkn1	UTSW	8	84,398,007 (GRCm39)	missense	probably damaging	1.00
R2026:Pkn1	UTSW	8	84,398,007 (GRCm39)	missense	probably damaging	1.00
R2027:Pkn1	UTSW	8	84,398,007 (GRCm39)	missense	probably damaging	1.00
R2029:Pkn1	UTSW	8	84,404,592 (GRCm39)	missense	possibly damaging	0.92
R2886:Pkn1	UTSW	8	84,407,867 (GRCm39)	missense	probably benign	0.28
R3017:Pkn1	UTSW	8	84,396,799 (GRCm39)	missense	probably benign	0.13
R3402:Pkn1	UTSW	8	84,396,859 (GRCm39)	missense	probably damaging	1.00
R4110:Pkn1	UTSW	8	84,417,828 (GRCm39)	missense	probably benign	0.41
R4504:Pkn1	UTSW	8	84,419,556 (GRCm39)	nonsense	probably null
R4838:Pkn1	UTSW	8	84,404,595 (GRCm39)	missense	probably damaging	1.00
R4857:Pkn1	UTSW	8	84,410,856 (GRCm39)	splice site	probably null
R5239:Pkn1	UTSW	8	84,410,811 (GRCm39)	missense	probably damaging	1.00
R5558:Pkn1	UTSW	8	84,411,351 (GRCm39)	missense	probably damaging	1.00
R5613:Pkn1	UTSW	8	84,404,390 (GRCm39)	missense	probably benign	0.00
R6169:Pkn1	UTSW	8	84,407,835 (GRCm39)	nonsense	probably null
R6172:Pkn1	UTSW	8	84,397,384 (GRCm39)	missense	possibly damaging	0.48
R6273:Pkn1	UTSW	8	84,398,899 (GRCm39)	missense	probably damaging	0.96
R6318:Pkn1	UTSW	8	84,410,220 (GRCm39)	missense	probably damaging	1.00
R6531:Pkn1	UTSW	8	84,396,922 (GRCm39)	missense	probably benign	0.09
R6969:Pkn1	UTSW	8	84,410,055 (GRCm39)	missense	probably damaging	1.00
R7142:Pkn1	UTSW	8	84,420,596 (GRCm39)	missense	possibly damaging	0.50
R7157:Pkn1	UTSW	8	84,398,363 (GRCm39)	missense	probably damaging	1.00
R7189:Pkn1	UTSW	8	84,419,302 (GRCm39)	missense	possibly damaging	0.74
R7981:Pkn1	UTSW	8	84,407,637 (GRCm39)	missense	probably damaging	0.99
R8876:Pkn1	UTSW	8	84,398,879 (GRCm39)	missense	possibly damaging	0.94
R8953:Pkn1	UTSW	8	84,410,815 (GRCm39)	missense	probably damaging	1.00
R9048:Pkn1	UTSW	8	84,424,663 (GRCm39)	missense	possibly damaging	0.91
R9374:Pkn1	UTSW	8	84,404,367 (GRCm39)	missense	probably benign	0.00
R9495:Pkn1	UTSW	8	84,410,799 (GRCm39)	missense	possibly damaging	0.95
R9549:Pkn1	UTSW	8	84,419,474 (GRCm39)	missense	probably damaging	1.00
Z1176:Pkn1	UTSW	8	84,400,126 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAAGTCAGTATGGGGTGAC -3'
(R):5'- GCAGTTCCTCCATGAACACAAG -3'

Sequencing Primer
(F):5'- CTAGAGCTGGTGAACTATTCTGAAGC -3'
(R):5'- CACAAGATTGTCTACAGGTGTGTACG -3'

Posted On

2015-11-11