Mutagenetix > Incidental Mutation

Incidental Mutation 'R1539:Pkn1'

171562

Institutional Source

Beutler Lab

Gene Symbol

Pkn1

Ensembl Gene

ENSMUSG00000057672

Gene Name

protein kinase N1

Synonyms

PAK1, Stk3, Pkn, Prkcl1, F730027O18Rik, PRK1

MMRRC Submission

039578-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84393165-84425808 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84396966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 890 (R890L)

Ref Sequence

ENSEMBL: ENSMUSP00000005616 (fasta)

Gene Model

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

AlphaFold

P70268

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005616
AA Change: R890L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672
AA Change: R890L

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 benign
Transcript: ENSMUST00000144258
AA Change: R895L

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116235
Gene: ENSMUSG00000057672
AA Change: R895L

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: ENSMUST00000212519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159935

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 88.0%

Validation Efficiency

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,652,097 (GRCm39)		probably null	Het
Adh7	A	C	3: 137,929,716 (GRCm39)	T131P	possibly damaging	Het
Agxt	G	A	1: 93,065,701 (GRCm39)	G190D	probably damaging	Het
AI182371	A	G	2: 34,978,815 (GRCm39)	I193T	probably damaging	Het
Akna	T	A	4: 63,297,547 (GRCm39)	T836S	probably benign	Het
Alox12	T	C	11: 70,144,069 (GRCm39)		probably null	Het
Anapc2	C	A	2: 25,163,075 (GRCm39)	T104K	probably benign	Het
Ank1	T	C	8: 23,583,935 (GRCm39)	L346P	probably damaging	Het
Ankfn1	A	T	11: 89,332,217 (GRCm39)	I443N	probably damaging	Het
Arhgef17	G	A	7: 100,539,680 (GRCm39)	T1066I	probably damaging	Het
Atg2a	C	A	19: 6,296,801 (GRCm39)		probably null	Het
Bpifb5	T	A	2: 154,065,776 (GRCm39)	H24Q	probably benign	Het
Brd9	A	G	13: 74,092,862 (GRCm39)	E283G	probably damaging	Het
Cadm2	C	A	16: 66,581,727 (GRCm39)	V184F	probably damaging	Het
Casr	A	G	16: 36,315,499 (GRCm39)	V857A	probably benign	Het
Ccdc18	A	T	5: 108,339,843 (GRCm39)	Q796L	probably damaging	Het
Cep290	T	C	10: 100,332,690 (GRCm39)	V263A	probably benign	Het
Clec10a	A	T	11: 70,060,645 (GRCm39)	N167Y	probably damaging	Het
Cog1	A	G	11: 113,543,058 (GRCm39)	I189V	possibly damaging	Het
Commd2	A	G	3: 57,554,269 (GRCm39)	I144T	probably benign	Het
Cse1l	A	G	2: 166,768,292 (GRCm39)	T197A	probably benign	Het
Csmd3	A	T	15: 47,683,794 (GRCm39)	S1783R	probably benign	Het
Cxxc1	T	C	18: 74,352,278 (GRCm39)	V334A	possibly damaging	Het
Dennd2d	A	G	3: 106,394,236 (GRCm39)	I39V	probably benign	Het
Dgkz	G	A	2: 91,768,405 (GRCm39)	P734S	probably damaging	Het
Diaph3	T	C	14: 86,893,916 (GRCm39)	D31G	probably damaging	Het
Dlec1	T	C	9: 118,956,518 (GRCm39)	S731P	probably benign	Het
Dmac2l	G	A	12: 69,787,845 (GRCm39)	D94N	probably benign	Het
Dnah11	T	C	12: 117,894,991 (GRCm39)	R3619G	probably benign	Het
Doc2b	A	G	11: 75,662,783 (GRCm39)	L405P	probably damaging	Het
Dock3	A	T	9: 106,829,563 (GRCm39)	I1117N	probably damaging	Het
Dock3	G	A	9: 106,874,112 (GRCm39)	A453V	probably benign	Het
Ece2	T	A	16: 20,461,263 (GRCm39)	I474N	probably damaging	Het
Etv4	A	T	11: 101,662,513 (GRCm39)		probably null	Het
Fam171b	A	T	2: 83,710,442 (GRCm39)	M705L	probably benign	Het
Frem2	T	C	3: 53,561,631 (GRCm39)	K959E	probably benign	Het
Fyn	T	C	10: 39,408,066 (GRCm39)	M251T	possibly damaging	Het
Galnt13	G	A	2: 54,747,869 (GRCm39)	G250E	probably damaging	Het
Ggh	T	C	4: 20,054,204 (GRCm39)		probably null	Het
Glcci1	A	G	6: 8,591,620 (GRCm39)	E222G	probably damaging	Het
Gm1968	G	A	16: 29,777,659 (GRCm39)		noncoding transcript	Het
Gm3604	T	A	13: 62,519,414 (GRCm39)	I52F	possibly damaging	Het
Gm43302	T	C	5: 105,422,635 (GRCm39)	I466V	probably benign	Het
Gm9789	T	C	16: 88,955,034 (GRCm39)	S48P	unknown	Het
Gpat3	A	T	5: 101,031,254 (GRCm39)	Y136F	probably benign	Het
Gpr171	T	C	3: 59,005,142 (GRCm39)	D211G	possibly damaging	Het
Grep1	T	A	17: 23,936,118 (GRCm39)		probably benign	Het
Hs3st1	T	C	5: 39,771,791 (GRCm39)	K284R	probably benign	Het
Htr2a	C	T	14: 74,882,608 (GRCm39)	A198V	possibly damaging	Het
Ice1	C	A	13: 70,754,023 (GRCm39)	D688Y	probably damaging	Het
Jade1	T	C	3: 41,559,431 (GRCm39)	M504T	probably benign	Het
Lrp1	T	C	10: 127,420,250 (GRCm39)		probably null	Het
Lsr	A	T	7: 30,671,517 (GRCm39)	I72N	possibly damaging	Het
Magel2	G	A	7: 62,028,557 (GRCm39)	R487H	possibly damaging	Het
Mertk	A	G	2: 128,624,446 (GRCm39)	D619G	probably benign	Het
Myo1b	A	T	1: 51,838,722 (GRCm39)	V245E	probably damaging	Het
Myrip	T	A	9: 120,253,689 (GRCm39)	L254Q	probably benign	Het
Nav3	A	G	10: 109,603,031 (GRCm39)	S1173P	probably damaging	Het
Ncoa7	T	C	10: 30,647,725 (GRCm39)	Y17C	probably damaging	Het
Ncor2	T	C	5: 125,187,003 (GRCm39)	E7G	probably benign	Het
Ninl	A	G	2: 150,817,867 (GRCm39)	V99A	probably damaging	Het
Noct	G	T	3: 51,155,333 (GRCm39)	E34*	probably null	Het
Notch1	A	T	2: 26,362,125 (GRCm39)	Y1043*	probably null	Het
Or10v1	T	C	19: 11,873,855 (GRCm39)	S157P	possibly damaging	Het
Or13a21	T	A	7: 139,999,326 (GRCm39)	Y120F	probably benign	Het
Or2d3	A	G	7: 106,490,483 (GRCm39)	Y278H	probably damaging	Het
Or6c88	G	A	10: 129,406,640 (GRCm39)	G39R	probably damaging	Het
Pde7b	C	A	10: 20,355,432 (GRCm39)	R104L	possibly damaging	Het
Podn	A	T	4: 107,878,764 (GRCm39)	Y368N	probably damaging	Het
Polr1b	G	A	2: 128,960,019 (GRCm39)		probably null	Het
Ppp1r3c	A	T	19: 36,711,361 (GRCm39)	F136L	probably benign	Het
Ppp2ca	T	A	11: 52,011,800 (GRCm39)	F260Y	probably damaging	Het
Prss39	A	G	1: 34,537,616 (GRCm39)	S27G	possibly damaging	Het
Ptch1	A	G	13: 63,689,101 (GRCm39)	V340A	probably benign	Het
Ranbp17	T	C	11: 33,247,394 (GRCm39)	I246V	probably damaging	Het
Rilpl1	T	A	5: 124,653,618 (GRCm39)	D181V	probably damaging	Het
Sdk1	T	A	5: 142,080,354 (GRCm39)	V1282D	probably damaging	Het
Sh3rf2	T	C	18: 42,282,887 (GRCm39)	S514P	probably damaging	Het
Slc35f2	A	T	9: 53,716,992 (GRCm39)	I252F	possibly damaging	Het
Slc7a1	A	G	5: 148,272,403 (GRCm39)	Y425H	possibly damaging	Het
Spaca4	G	T	7: 45,374,984 (GRCm39)		probably benign	Het
Spata31d1b	T	C	13: 59,863,733 (GRCm39)	S294P	possibly damaging	Het
Ssh1	T	G	5: 114,090,064 (GRCm39)	T342P	probably damaging	Het
Stk10	T	A	11: 32,483,440 (GRCm39)	S13T	possibly damaging	Het
Tbx1	G	T	16: 18,402,843 (GRCm39)	D214E	probably benign	Het
Tdp1	A	G	12: 99,878,571 (GRCm39)	E453G	probably damaging	Het
Tlr1	T	C	5: 65,084,319 (GRCm39)	Y86C	probably damaging	Het
Tmem241	A	T	18: 12,176,297 (GRCm39)	C124S	possibly damaging	Het
Trp63	A	G	16: 25,703,599 (GRCm39)	M516V	probably benign	Het
Ttc28	T	C	5: 111,248,677 (GRCm39)	V210A	possibly damaging	Het
Tut1	C	T	19: 8,942,850 (GRCm39)	R646W	probably benign	Het
Ubald1	C	T	16: 4,694,261 (GRCm39)	E49K	possibly damaging	Het
Usp28	T	C	9: 48,949,096 (GRCm39)	Y897H	probably benign	Het
Vmn2r27	A	C	6: 124,168,730 (GRCm39)	F800C	probably damaging	Het
Vmn2r83	T	A	10: 79,327,759 (GRCm39)	M789K	probably damaging	Het
Vwa8	A	G	14: 79,300,002 (GRCm39)	D945G	probably benign	Het
Wdhd1	T	A	14: 47,482,507 (GRCm39)	K947N	possibly damaging	Het
Wdr12	A	T	1: 60,123,007 (GRCm39)		probably null	Het
Xrra1	A	T	7: 99,520,564 (GRCm39)	E57V	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
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
R4739:Pkn1	UTSW	8	84,398,378 (GRCm39)	missense	probably damaging	0.98
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'- AAGAGTCTGCCTTGCCTCTGTCAC -3'
(R):5'- GCTTCTCCAGGCCCAAATCATCATC -3'

Sequencing Primer
(F):5'- TCAAGAACTCTTGGGTAAGGC -3'
(R):5'- ATCACAGGGCTTACCCTGG -3'

Posted On

2014-04-13