Mutagenetix > Incidental Mutations

Incidental Mutation 'R0620:Pkp4'

58577

Institutional Source

Beutler Lab

Gene Symbol

Pkp4

Ensembl Gene

ENSMUSG00000026991

Gene Name

plakophilin 4

Synonyms

Armrp, 9430019K17Rik, 5031422I09Rik, p0071

MMRRC Submission

038809-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59160850-59355208 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59322643 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 612 (V612I)

Ref Sequence

ENSEMBL: ENSMUSP00000129836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037903] [ENSMUST00000102754] [ENSMUST00000112577] [ENSMUST00000123908] [ENSMUST00000168631] [ENSMUST00000183359] [ENSMUST00000184332]

AlphaFold

Q68FH0

Predicted Effect

probably benign
Transcript: ENSMUST00000037903
AA Change: V628I

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: V628I

Domain	Start	End	E-Value	Type
coiled coil region	41	63	N/A	INTRINSIC
low complexity region	230	246	N/A	INTRINSIC
low complexity region	324	337	N/A	INTRINSIC
low complexity region	467	478	N/A	INTRINSIC
ARM	574	614	5.68e-9	SMART
ARM	618	659	1.61e-8	SMART
ARM	660	717	4.54e1	SMART
ARM	719	766	9.97e0	SMART
low complexity region	777	788	N/A	INTRINSIC
ARM	876	916	3.34e-6	SMART
ARM	964	1008	1.32e-4	SMART
low complexity region	1057	1073	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102754
AA Change: V612I

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: V612I

Domain	Start	End	E-Value	Type
coiled coil region	41	63	N/A	INTRINSIC
low complexity region	230	246	N/A	INTRINSIC
low complexity region	324	337	N/A	INTRINSIC
low complexity region	467	478	N/A	INTRINSIC
ARM	558	598	5.68e-9	SMART
ARM	602	643	1.61e-8	SMART
ARM	644	701	4.54e1	SMART
ARM	703	750	9.97e0	SMART
low complexity region	761	772	N/A	INTRINSIC
ARM	860	900	3.34e-6	SMART
ARM	948	992	1.32e-4	SMART
low complexity region	1083	1100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112577
AA Change: V271I

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108196
Gene: ENSMUSG00000026991
AA Change: V271I

Domain	Start	End	E-Value	Type
low complexity region	126	137	N/A	INTRINSIC
ARM	217	257	5.68e-9	SMART
ARM	261	302	1.61e-8	SMART
ARM	303	360	4.54e1	SMART
ARM	362	409	9.97e0	SMART
low complexity region	420	431	N/A	INTRINSIC
ARM	519	559	3.34e-6	SMART
ARM	607	651	1.32e-4	SMART
low complexity region	742	759	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123908
AA Change: V628I

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: V628I

Domain	Start	End	E-Value	Type
coiled coil region	41	63	N/A	INTRINSIC
low complexity region	230	246	N/A	INTRINSIC
low complexity region	324	337	N/A	INTRINSIC
low complexity region	467	478	N/A	INTRINSIC
ARM	574	614	5.68e-9	SMART
ARM	618	659	1.61e-8	SMART
ARM	660	717	4.54e1	SMART
ARM	719	766	9.97e0	SMART
low complexity region	777	788	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151452

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168631
AA Change: V612I

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: V612I

Domain	Start	End	E-Value	Type
coiled coil region	41	63	N/A	INTRINSIC
low complexity region	230	246	N/A	INTRINSIC
low complexity region	324	337	N/A	INTRINSIC
low complexity region	467	478	N/A	INTRINSIC
ARM	558	598	5.68e-9	SMART
ARM	602	643	1.61e-8	SMART
ARM	644	701	4.54e1	SMART
ARM	703	750	9.97e0	SMART
low complexity region	761	772	N/A	INTRINSIC
ARM	860	900	3.34e-6	SMART
ARM	948	992	1.32e-4	SMART
low complexity region	1041	1057	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183359

SMART Domains

Protein: ENSMUSP00000139141
Gene: ENSMUSG00000026991

Domain	Start	End	E-Value	Type
coiled coil region	41	63	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184332

Meta Mutation Damage Score

0.2138

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
PHENOTYPE: An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,328,375	Q973L	probably damaging	Het
Adamts9	T	C	6: 92,858,113	T679A	possibly damaging	Het
Ahr	T	C	12: 35,508,194	T276A	probably benign	Het
Akap9	A	T	5: 4,064,136	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,432,689	F7I	probably benign	Het
B3galt2	A	G	1: 143,646,140	R5G	probably damaging	Het
Bod1l	T	C	5: 41,801,233	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,396	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,957,717		probably null	Het
Cst7	T	A	2: 150,575,886		probably benign	Het
Defb30	A	T	14: 63,049,763		probably benign	Het
Dido1	C	T	2: 180,659,851	G2087S	probably benign	Het
Dio2	A	G	12: 90,738,071	Y72H	probably benign	Het
Dnah11	C	T	12: 117,987,469	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,503,249	K287E	possibly damaging	Het
Dnajc11	G	A	4: 151,973,628	V244I	possibly damaging	Het
Ect2	C	T	3: 27,139,652	A226T	probably damaging	Het
Ercc8	G	A	13: 108,174,061		probably null	Het
Fam120b	T	A	17: 15,402,927	M389K	probably benign	Het
Fam151a	A	G	4: 106,747,931	M497V	probably benign	Het
Fam186b	C	A	15: 99,280,128	G439V	probably benign	Het
Fank1	A	G	7: 133,876,765	Y185C	probably damaging	Het
Gart	T	C	16: 91,630,602		probably benign	Het
Glb1l	T	C	1: 75,199,720	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,658,437	A164T	unknown	Het
Gnb4	C	T	3: 32,591,207	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,859,693	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,137,960	T144M	probably damaging	Het
Haus6	A	T	4: 86,583,514	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,594,016	T4971S	probably benign	Het
Ints6	A	T	14: 62,696,759	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330	M650K	probably damaging	Het
Kif21b	T	C	1: 136,159,428	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,614,635	Q176H	possibly damaging	Het
Ky	T	C	9: 102,537,621	V244A	probably benign	Het
Mia2	T	A	12: 59,154,419	L191M	possibly damaging	Het
Miga2	T	A	2: 30,381,744		probably benign	Het
Mtss1l	C	T	8: 110,737,948	P322S	probably damaging	Het
Nalcn	A	G	14: 123,299,141		probably benign	Het
Ncbp3	T	A	11: 73,049,845		probably benign	Het
Nprl3	G	A	11: 32,234,876	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,846,821	M184L	probably benign	Het
Olfr311	T	G	11: 58,841,443	C110G	probably damaging	Het
Olfr738	G	T	14: 50,413,697	C51F	probably benign	Het
Osbpl9	T	C	4: 109,083,128	E287G	probably damaging	Het
Parva	T	C	7: 112,576,411	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,421,811	Q65*	probably null	Het
Phtf1	A	G	3: 103,993,765	T377A	probably damaging	Het
Plscr2	C	A	9: 92,287,654	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092		probably benign	Het
Pole2	A	C	12: 69,209,879	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,018	F586L	probably benign	Het
Prrx1	G	A	1: 163,257,816	R182C	probably damaging	Het
Ptprs	A	G	17: 56,429,103	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 91,919,817		probably benign	Het
Riox2	T	C	16: 59,491,892	V464A	probably benign	Het
Robo2	A	G	16: 73,967,802	V646A	possibly damaging	Het
Ros1	T	A	10: 52,118,348	I1279F	probably damaging	Het
Siglec1	G	A	2: 131,074,268	T1254M	probably benign	Het
Snx7	T	C	3: 117,846,675	N62D	probably damaging	Het
Sp100	G	A	1: 85,659,867		probably null	Het
Stil	A	T	4: 115,007,159	I86L	possibly damaging	Het
Tbc1d16	T	A	11: 119,209,038	D170V	probably benign	Het
Tmem2	T	A	19: 21,817,971	S743T	probably benign	Het
Trappc13	G	A	13: 104,161,081	T105M	probably damaging	Het
Trhr	T	A	15: 44,229,500	S378T	probably benign	Het
Ttc7b	T	C	12: 100,500,073		probably null	Het
Vegfc	A	T	8: 54,157,139	Y110F	probably benign	Het
Vmn1r184	C	A	7: 26,267,177	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,503,814	C444*	probably null	Het
Zfp341	A	G	2: 154,634,273	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,616,444	V41E	probably benign	Het

Other mutations in Pkp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Pkp4	APN	2	59338755	missense	probably damaging	0.99
IGL00987:Pkp4	APN	2	59308357	missense	probably damaging	0.98
IGL01321:Pkp4	APN	2	59350627	splice site	probably null
IGL01393:Pkp4	APN	2	59347925	missense	probably damaging	1.00
IGL02058:Pkp4	APN	2	59311729	nonsense	probably null
IGL02313:Pkp4	APN	2	59310254	nonsense	probably null
IGL02635:Pkp4	APN	2	59305498	unclassified	probably benign
IGL03017:Pkp4	APN	2	59266425	missense	probably benign	0.06
IGL03051:Pkp4	APN	2	59311762	missense	probably benign	0.29
Degrasso	UTSW	2	59318600	missense	probably damaging	1.00
melted	UTSW	2	59334932	critical splice donor site	probably null
BB004:Pkp4	UTSW	2	59311754	missense	probably damaging	0.97
BB014:Pkp4	UTSW	2	59311754	missense	probably damaging	0.97
R0206:Pkp4	UTSW	2	59266436	missense	probably damaging	0.99
R0207:Pkp4	UTSW	2	59305488	missense	possibly damaging	0.89
R0208:Pkp4	UTSW	2	59266436	missense	probably damaging	0.99
R0325:Pkp4	UTSW	2	59318529	missense	probably damaging	1.00
R0781:Pkp4	UTSW	2	59338765	missense	probably damaging	1.00
R1110:Pkp4	UTSW	2	59338765	missense	probably damaging	1.00
R1537:Pkp4	UTSW	2	59214803	missense	probably damaging	1.00
R1607:Pkp4	UTSW	2	59322554	missense	probably benign	0.00
R1654:Pkp4	UTSW	2	59337619	missense	probably damaging	0.96
R1760:Pkp4	UTSW	2	59311841	missense	probably damaging	0.97
R2051:Pkp4	UTSW	2	59334904	missense	probably benign	0.37
R2871:Pkp4	UTSW	2	59308156	missense	probably benign	0.35
R2871:Pkp4	UTSW	2	59308156	missense	probably benign	0.35
R3161:Pkp4	UTSW	2	59308105	missense	probably damaging	1.00
R4261:Pkp4	UTSW	2	59305162	missense	probably damaging	1.00
R4342:Pkp4	UTSW	2	59350608	missense	probably damaging	0.98
R4731:Pkp4	UTSW	2	59334932	critical splice donor site	probably null
R4799:Pkp4	UTSW	2	59342105	missense	probably damaging	1.00
R4913:Pkp4	UTSW	2	59305450	missense	probably damaging	1.00
R5383:Pkp4	UTSW	2	59310273	nonsense	probably null
R5418:Pkp4	UTSW	2	59310162	missense	probably benign	0.09
R5906:Pkp4	UTSW	2	59305076	missense	possibly damaging	0.79
R5946:Pkp4	UTSW	2	59305067	missense	probably benign	0.01
R6360:Pkp4	UTSW	2	59214747	missense	probably benign	0.01
R6616:Pkp4	UTSW	2	59350552	nonsense	probably null
R6817:Pkp4	UTSW	2	59318600	missense	probably damaging	1.00
R7390:Pkp4	UTSW	2	59310140	missense	possibly damaging	0.94
R7408:Pkp4	UTSW	2	59311766	missense	probably damaging	1.00
R7464:Pkp4	UTSW	2	59308137	missense	probably benign	0.12
R7702:Pkp4	UTSW	2	59308413	missense	probably damaging	0.99
R7787:Pkp4	UTSW	2	59322537	missense	probably damaging	0.98
R7927:Pkp4	UTSW	2	59311754	missense	probably damaging	0.97
R8055:Pkp4	UTSW	2	59308015	missense	probably benign
R8359:Pkp4	UTSW	2	59350551	missense	probably damaging	1.00
R8465:Pkp4	UTSW	2	59342181	missense	possibly damaging	0.90
R8555:Pkp4	UTSW	2	59308035	nonsense	probably null
R8909:Pkp4	UTSW	2	59354414	missense	possibly damaging	0.71
R9224:Pkp4	UTSW	2	59314394	missense	probably benign	0.41
R9397:Pkp4	UTSW	2	59318512	nonsense	probably null
Z1176:Pkp4	UTSW	2	59342244	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCCGTCAGTCTGTCACATATCAC -3'
(R):5'- TTAAGCAAGAGTCCAGATCCGCAC -3'

Sequencing Primer
(F):5'- TCTGTCACATATCACTCAGGC -3'
(R):5'- GAACACTGCAAATGCCTTCTGG -3'

Posted On

2013-07-11