Mutagenetix > Incidental Mutation

Incidental Mutation 'R6169:Pkn1'

490314

Institutional Source

Beutler Lab

Gene Symbol

Pkn1

Ensembl Gene

ENSMUSG00000057672

Gene Name

protein kinase N1

Synonyms

PRK1, F730027O18Rik, PAK1, Prkcl1, Pkn, Stk3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6169 (G1)

Quality Score

186.009

Status

Validated

Chromosome

Chromosomal Location

83666536-83699179 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 83681206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 425 (Q425*)

Ref Sequence

ENSEMBL: ENSMUSP00000116235 (fasta)

Gene Model

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

AlphaFold

P70268

Predicted Effect

probably null
Transcript: ENSMUST00000005616
AA Change: Q420*

SMART Domains

Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672
AA Change: Q420*

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 null
Transcript: ENSMUST00000132945
AA Change: Q432*

SMART Domains

Protein: ENSMUSP00000115054
Gene: ENSMUSG00000057672
AA Change: Q432*

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: ENSMUST00000133195

Predicted Effect

probably null
Transcript: ENSMUST00000144258
AA Change: Q425*

SMART Domains

Protein: ENSMUSP00000116235
Gene: ENSMUSG00000057672
AA Change: Q425*

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (67/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	A	11: 3,938,005	C127F	unknown	Het
9930111J21Rik2	A	T	11: 49,019,261		probably null	Het
Adamts16	A	T	13: 70,770,274	L676*	probably null	Het
Adgrv1	A	T	13: 81,419,259	V5265E	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Akap6	T	A	12: 53,142,358	M2185K	probably benign	Het
Ankfy1	G	A	11: 72,754,459	C788Y	probably benign	Het
Ankrd50	A	G	3: 38,455,839	V793A	probably damaging	Het
Arid2	T	A	15: 96,368,677	N535K	probably benign	Het
Atrnl1	A	G	19: 57,642,463	T221A	probably benign	Het
Bbof1	C	T	12: 84,426,814	T306I	probably benign	Het
BC005561	T	A	5: 104,518,396	N261K	probably benign	Het
Cabs1	C	T	5: 87,979,754	T88I	possibly damaging	Het
Ccdc60	C	A	5: 116,137,072	A351S	probably benign	Het
Cetn3	A	C	13: 81,791,978	R44S	probably damaging	Het
Cluap1	A	G	16: 3,928,561	K262R	possibly damaging	Het
Cnrip1	G	A	11: 17,054,731	V94I	probably null	Het
Cog6	A	T	3: 53,007,301	S245T	probably benign	Het
Disp2	T	A	2: 118,791,550	V921D	probably damaging	Het
Ep400	T	C	5: 110,741,997	K504E	possibly damaging	Het
Fam189a1	G	A	7: 64,759,399	P416S	probably benign	Het
Fbn1	T	A	2: 125,335,489		probably null	Het
Fyb2	T	C	4: 105,000,516	V630A	probably benign	Het
Gm13088	T	C	4: 143,654,115	Y446C	probably benign	Het
Gm43218	T	A	6: 70,240,622	Y50F	probably benign	Het
Gm5431	T	C	11: 48,888,575	T507A	probably benign	Het
Gucy2e	G	T	11: 69,236,104	A181E	probably benign	Het
Hrnr	C	G	3: 93,325,755	S1100*	probably null	Het
Htt	T	C	5: 34,907,473	V3010A	probably damaging	Het
Ighv1-11	T	C	12: 114,612,298	Y99C	probably damaging	Het
Ighv1-12	T	C	12: 114,615,957	K25E	possibly damaging	Het
Il6ra	A	G	3: 89,871,291	F417S	probably benign	Het
Itgb4	T	C	11: 115,994,276	S994P	probably damaging	Het
Itgbl1	G	A	14: 123,660,378	A24T	probably benign	Het
Itpr1	T	C	6: 108,369,116	F127L	probably damaging	Het
Krt86	A	G	15: 101,476,289	Y243C	probably damaging	Het
Lnx1	A	T	5: 74,677,569	W11R	probably damaging	Het
Mast4	A	G	13: 102,787,421	L302P	probably damaging	Het
Mettl3	A	G	14: 52,298,757	V210A	possibly damaging	Het
Mllt1	T	C	17: 56,899,822	T341A	probably benign	Het
Obscn	T	C	11: 59,000,499	E7069G	unknown	Het
Olfr387-ps1	A	T	11: 73,665,334	T242S	possibly damaging	Het
Olfr547	T	C	7: 102,535,272	I175T	probably benign	Het
Osgep	A	G	14: 50,919,752	V11A	possibly damaging	Het
Oxld1	G	A	11: 120,456,849	A174V	possibly damaging	Het
Pibf1	A	T	14: 99,113,007	E197V	probably null	Het
Prss35	T	C	9: 86,755,438	I87T	probably benign	Het
Psmc3	T	C	2: 91,057,839	F304S	probably damaging	Het
Psmd11	T	A	11: 80,460,713	M254K	probably damaging	Het
Ralgapa2	T	C	2: 146,450,465	Y218C	probably damaging	Het
Sec23b	C	T	2: 144,586,974	R701C	probably damaging	Het
Slc22a21	A	G	11: 53,958,087	S280P	probably damaging	Het
Slc39a12	T	C	2: 14,400,233	I212T	possibly damaging	Het
Slc7a12	T	C	3: 14,497,328	V255A	probably damaging	Het
Smc3	T	A	19: 53,634,086	N697K	probably benign	Het
Snai1	C	A	2: 167,538,911	P108Q	probably benign	Het
Ssfa2	T	G	2: 79,645,062	I455R	probably damaging	Het
Stim2	T	G	5: 54,118,679	L732R	probably damaging	Het
Syde1	A	G	10: 78,586,104	L597S	probably damaging	Het
Tcte1	T	A	17: 45,535,070	M200K	probably benign	Het
Tenm2	T	A	11: 36,139,690	T761S	probably damaging	Het
Tlr2	C	A	3: 83,838,148	E209D	probably benign	Het
Tpp2	T	C	1: 43,983,579	L33P	probably damaging	Het
Trmt1l	C	A	1: 151,428,953		probably benign	Het
Unc45a	A	C	7: 80,328,763	S646A	possibly damaging	Het
Usp37	A	T	1: 74,495,751	I12N	probably damaging	Het
Vmn2r81	T	C	10: 79,268,548	V335A	probably benign	Het
Wwc2	A	T	8: 47,858,843	S762T	unknown	Het
Yeats2	A	G	16: 20,219,667	K129E	probably damaging	Het
Zscan4-ps2	T	C	7: 11,517,631	V198A	probably benign	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
R4739:Pkn1	UTSW	8	83671749	missense	probably damaging	0.98
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
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'- TTGTCCAAGAAGTCCTCCAAC -3'
(R):5'- ACCCCAGTCTGAATTAAAGGC -3'

Sequencing Primer
(F):5'- GTCCTCCAACTTCAGAAATTTGAGAG -3'
(R):5'- CTTTATTGTGAAAGGCAAGCTGGC -3'

Posted On

2017-10-10