Mutagenetix > Incidental Mutation

Incidental Mutation 'R4739:Pkn1'

359529

Institutional Source

Beutler Lab

Gene Symbol

Pkn1

Ensembl Gene

ENSMUSG00000057672

Gene Name

protein kinase N1

Synonyms

PRK1, F730027O18Rik, PAK1, Prkcl1, Pkn, Stk3

MMRRC Submission

042025-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83666536-83699179 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 83671749 bp (GRCm38)

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: 158,969,334		noncoding transcript	Het
2300002M23Rik	A	G	17: 35,567,506		probably benign	Het
Aadat	T	C	8: 60,540,106	V360A	probably benign	Het
Abcc5	T	A	16: 20,399,626	D283V	probably damaging	Het
Abraxas1	T	A	5: 100,812,020	K155N	probably damaging	Het
Acot3	T	C	12: 84,058,590	I277T	probably benign	Het
Ankrd45	G	A	1: 161,155,390	C157Y	probably damaging	Het
Apol10a	C	T	15: 77,488,641	T159I	possibly damaging	Het
Arhgef11	G	A	3: 87,697,999	V214M	possibly damaging	Het
Ash1l	A	C	3: 88,982,845	N677T	probably benign	Het
Atg13	A	G	2: 91,684,695	S254P	probably damaging	Het
Atg16l2	A	G	7: 101,297,178	L129P	probably damaging	Het
Avl9	T	A	6: 56,726,309	V120D	probably damaging	Het
Cc2d1b	T	C	4: 108,628,042	V527A	probably benign	Het
Ccnl1	A	G	3: 65,946,671		probably benign	Het
Cenpl	T	A	1: 161,083,267	D261E	probably damaging	Het
Cep192	T	G	18: 67,851,732	I1604M	probably benign	Het
Cep95	A	G	11: 106,815,734	I573V	probably benign	Het
Cfap100	A	G	6: 90,412,843		probably null	Het
Cmc1	T	A	9: 118,075,177	M49L	probably benign	Het
Cyfip2	G	T	11: 46,279,993	N176K	probably damaging	Het
Cyp2w1	T	C	5: 139,356,675	F408L	probably damaging	Het
D630045J12Rik	G	A	6: 38,196,036	S399F	possibly damaging	Het
Dcbld2	T	A	16: 58,460,976	L528Q	probably damaging	Het
Dip2b	T	C	15: 100,207,777	V1138A	probably damaging	Het
Dip2c	T	A	13: 9,533,339	L119Q	probably damaging	Het
Dnah3	T	C	7: 120,077,946	D444G	possibly damaging	Het
Dsg1c	A	T	18: 20,275,189	N432Y	possibly damaging	Het
Dst	T	A	1: 34,191,147	I2785N	probably benign	Het
Dynap	A	T	18: 70,241,225	Y77N	possibly damaging	Het
Eif4g3	T	C	4: 138,183,199	L1330P	possibly damaging	Het
Eif4g3	T	A	4: 138,198,097	S1584T	probably benign	Het
Enpp1	A	T	10: 24,679,248	C67S	probably null	Het
Enpp5	C	T	17: 44,081,136	T152I	probably damaging	Het
Erbb4	T	C	1: 68,343,900	M313V	probably damaging	Het
Erc2	T	G	14: 27,776,881	L238R	probably damaging	Het
Eya3	T	A	4: 132,721,387		probably benign	Het
Farp1	T	C	14: 121,238,787	F339L	probably damaging	Het
Fsip2	A	C	2: 82,975,353	D672A	possibly damaging	Het
Gap43	G	T	16: 42,292,218	P60Q	probably benign	Het
Gatsl3	A	G	11: 4,219,004	E57G	possibly damaging	Het
Gpr37l1	T	A	1: 135,167,045	I154F	probably damaging	Het
Greb1	A	G	12: 16,696,328	S1314P	probably damaging	Het
Hectd4	A	T	5: 121,348,442	M3167L	probably benign	Het
Hps3	C	T	3: 20,030,410		probably null	Het
Hps5	A	G	7: 46,786,589	C178R	probably benign	Het
Hspg2	T	A	4: 137,570,073		probably benign	Het
Impdh2-ps	A	G	8: 100,031,207		noncoding transcript	Het
Josd2	T	A	7: 44,471,254	N138K	probably damaging	Het
Mtmr6	T	G	14: 60,292,097	M315R	probably damaging	Het
Mtrf1	G	A	14: 79,413,080	V323M	probably damaging	Het
Myo16	G	T	8: 10,373,527	G288W	probably damaging	Het
Myo18a	T	C	11: 77,823,323	Y748H	probably damaging	Het
Narfl	A	T	17: 25,781,309	H322L	probably damaging	Het
Nek1	A	T	8: 61,098,511	N853I	probably benign	Het
Npnt	T	G	3: 132,904,691	T272P	possibly damaging	Het
Olfr11	T	A	13: 21,639,170	M118L	possibly damaging	Het
Olfr1390	G	A	11: 49,341,321	G263D	probably benign	Het
Olfr558	T	A	7: 102,710,171	I304N	probably damaging	Het
Olfr668	G	A	7: 104,924,810	T318I	possibly damaging	Het
Olfr694	C	A	7: 106,689,144	E196*	probably null	Het
Olfr76	A	G	19: 12,119,870	Y269H	possibly damaging	Het
Pappa2	T	G	1: 158,957,002	D146A	probably damaging	Het
Pappa2	T	C	1: 158,957,012	R143G	probably benign	Het
Pcsk9	C	T	4: 106,447,156	G496R	probably damaging	Het
Pes1	A	G	11: 3,964,058	K8E	probably damaging	Het
Phlpp2	G	A	8: 109,940,420	G1194S	probably damaging	Het
Pkp2	C	A	16: 16,230,724	A331E	probably damaging	Het
Plb1	T	A	5: 32,349,679		probably null	Het
Plxna1	A	T	6: 89,332,675		probably null	Het
Polq	C	T	16: 37,041,747	T264M	probably damaging	Het
Prkag3	T	C	1: 74,740,705	*490W	probably null	Het
Prl2c1	T	C	13: 27,857,678	C228R	probably damaging	Het
Pus7l	T	C	15: 94,540,710	S85G	probably benign	Het
Rfc3	A	C	5: 151,644,776		probably benign	Het
Riox2	A	G	16: 59,489,369	N362S	probably benign	Het
Rnf219	C	T	14: 104,510,383	D43N	probably damaging	Het
Scaper	A	T	9: 55,743,648	D904E	probably damaging	Het
Scn11a	T	C	9: 119,754,561	M1663V	probably benign	Het
Slc13a3	A	T	2: 165,430,289	I278N	possibly damaging	Het
Slc22a7	T	C	17: 46,434,997	E278G	probably damaging	Het
Snrnp48	T	A	13: 38,209,917	M66K	probably damaging	Het
Styk1	T	G	6: 131,300,466	E404A	probably damaging	Het
Synj1	T	A	16: 90,955,419	H1016L	probably benign	Het
Tbc1d8	G	A	1: 39,402,878	T211I	possibly damaging	Het
Tjp2	T	C	19: 24,120,111		probably null	Het
Tmem87a	A	G	2: 120,360,037		probably null	Het
Trappc9	T	G	15: 72,937,060	Y718S	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Ugt2a3	C	T	5: 87,327,195	G397R	probably damaging	Het
Wdr33	T	A	18: 31,886,086	M454K	probably benign	Het
Wdtc1	G	T	4: 133,301,799	N325K	possibly damaging	Het
Whrn	T	C	4: 63,418,165	H720R	probably damaging	Het
Xirp2	A	T	2: 67,519,265	D3268V	probably damaging	Het
Zc3h7a	A	T	16: 11,141,709	H793Q	probably damaging	Het
Zfp518b	C	T	5: 38,674,498	A55T	possibly damaging	Het
Zmynd8	G	A	2: 165,805,329	T901M	probably damaging	Het

Other mutations in Pkn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Pkn1	APN	8	83681006	missense	probably damaging	0.96
IGL02058:Pkn1	APN	8	83681225	nonsense	probably null
IGL03142:Pkn1	APN	8	83671023	missense	possibly damaging	0.85
Xinjiang	UTSW	8	83692927	nonsense	probably null
R0115:Pkn1	UTSW	8	83671029	missense	probably damaging	0.99
R0157:Pkn1	UTSW	8	83692820	missense	probably damaging	1.00
R0304:Pkn1	UTSW	8	83683607	splice site	probably benign
R0450:Pkn1	UTSW	8	83672324	missense	probably damaging	1.00
R0469:Pkn1	UTSW	8	83672324	missense	probably damaging	1.00
R1419:Pkn1	UTSW	8	83673522	missense	probably damaging	0.99
R1539:Pkn1	UTSW	8	83670337	missense	possibly damaging	0.49
R2025:Pkn1	UTSW	8	83671378	missense	probably damaging	1.00
R2026:Pkn1	UTSW	8	83671378	missense	probably damaging	1.00
R2027:Pkn1	UTSW	8	83671378	missense	probably damaging	1.00
R2029:Pkn1	UTSW	8	83677963	missense	possibly damaging	0.92
R2886:Pkn1	UTSW	8	83681238	missense	probably benign	0.28
R3017:Pkn1	UTSW	8	83670170	missense	probably benign	0.13
R3402:Pkn1	UTSW	8	83670230	missense	probably damaging	1.00
R4110:Pkn1	UTSW	8	83691199	missense	probably benign	0.41
R4504:Pkn1	UTSW	8	83692927	nonsense	probably null
R4838:Pkn1	UTSW	8	83677966	missense	probably damaging	1.00
R4857:Pkn1	UTSW	8	83684227	splice site	probably null
R5239:Pkn1	UTSW	8	83684182	missense	probably damaging	1.00
R5558:Pkn1	UTSW	8	83684722	missense	probably damaging	1.00
R5613:Pkn1	UTSW	8	83677761	missense	probably benign	0.00
R6169:Pkn1	UTSW	8	83681206	nonsense	probably null
R6172:Pkn1	UTSW	8	83670755	missense	possibly damaging	0.48
R6273:Pkn1	UTSW	8	83672270	missense	probably damaging	0.96
R6318:Pkn1	UTSW	8	83683591	missense	probably damaging	1.00
R6531:Pkn1	UTSW	8	83670293	missense	probably benign	0.09
R6969:Pkn1	UTSW	8	83683426	missense	probably damaging	1.00
R7142:Pkn1	UTSW	8	83693967	missense	possibly damaging	0.50
R7157:Pkn1	UTSW	8	83671734	missense	probably damaging	1.00
R7189:Pkn1	UTSW	8	83692673	missense	possibly damaging	0.74
R7981:Pkn1	UTSW	8	83681008	missense	probably damaging	0.99
R8876:Pkn1	UTSW	8	83672250	missense	possibly damaging	0.94
R8953:Pkn1	UTSW	8	83684186	missense	probably damaging	1.00
R9048:Pkn1	UTSW	8	83698034	missense	possibly damaging	0.91
R9374:Pkn1	UTSW	8	83677738	missense	probably benign	0.00
R9495:Pkn1	UTSW	8	83684170	missense	possibly damaging	0.95
R9549:Pkn1	UTSW	8	83692845	missense	probably damaging	1.00
Z1176:Pkn1	UTSW	8	83673497	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