Mutagenetix > Incidental Mutation

Incidental Mutation 'R2051:Pkp4'

226379

Institutional Source

Beutler Lab

Gene Symbol

Pkp4

Ensembl Gene

ENSMUSG00000026991

Gene Name

plakophilin 4

Synonyms

p0071, 5031422I09Rik, Armrp, 9430019K17Rik

MMRRC Submission

040058-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58991194-59185552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59165248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 704 (V704A)

Ref Sequence

ENSEMBL: ENSMUSP00000122152 (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: V704A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: V704A

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

probably benign
Transcript: ENSMUST00000102754
AA Change: V688A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: V688A

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: V347A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000108196
Gene: ENSMUSG00000026991
AA Change: V347A

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: V704A

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: V704A

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

probably benign
Transcript: ENSMUST00000168631
AA Change: V688A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: V688A

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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,562,447 (GRCm39)	T98M	probably damaging	Het
4932414N04Rik	G	T	2: 68,541,392 (GRCm39)	K10N	possibly damaging	Het
Aadat	T	A	8: 60,960,173 (GRCm39)	S40T	probably benign	Het
Abca13	A	G	11: 9,278,098 (GRCm39)	I3093V	probably benign	Het
Acacb	A	T	5: 114,383,951 (GRCm39)	Q2160L	probably damaging	Het
Acp6	G	T	3: 97,075,333 (GRCm39)	S189I	probably benign	Het
Actr5	A	T	2: 158,474,213 (GRCm39)	M339L	probably benign	Het
Adcy1	A	T	11: 7,111,885 (GRCm39)	K917*	probably null	Het
Adgrg5	C	T	8: 95,668,695 (GRCm39)	R504C	probably benign	Het
Ago1	T	C	4: 126,354,246 (GRCm39)	H188R	probably benign	Het
Akap9	T	A	5: 4,025,685 (GRCm39)	C23*	probably null	Het
Ank3	T	C	10: 69,733,920 (GRCm39)	I728T	probably damaging	Het
Ankrd50	A	G	3: 38,508,642 (GRCm39)	S1242P	probably benign	Het
Arhgap29	G	A	3: 121,775,509 (GRCm39)	R84H	probably benign	Het
Arhgef10	A	G	8: 14,995,320 (GRCm39)	D7G	probably null	Het
Arid4b	A	G	13: 14,362,230 (GRCm39)	E898G	probably damaging	Het
Atrnl1	A	G	19: 57,680,281 (GRCm39)	N727S	probably benign	Het
Baalc	G	T	15: 38,796,629 (GRCm39)		probably benign	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Chpf2	G	T	5: 24,796,274 (GRCm39)	V407L	probably benign	Het
Chrnb3	C	A	8: 27,876,839 (GRCm39)	N84K	probably damaging	Het
Cnot1	A	G	8: 96,451,221 (GRCm39)	F2171L	possibly damaging	Het
Csmd3	C	T	15: 48,485,389 (GRCm39)		probably null	Het
Cux1	T	A	5: 136,361,512 (GRCm39)	Q138L	probably damaging	Het
Cyp2c65	A	G	19: 39,070,675 (GRCm39)	N286S	probably benign	Het
Dclre1b	T	C	3: 103,716,356 (GRCm39)	S17G	possibly damaging	Het
Dlgap5	A	G	14: 47,648,941 (GRCm39)	S221P	probably benign	Het
Dnah1	T	G	14: 31,001,080 (GRCm39)	T2422P	probably damaging	Het
Enpp1	A	G	10: 24,587,702 (GRCm39)		probably null	Het
Erbb2	T	C	11: 98,310,998 (GRCm39)	C53R	probably damaging	Het
Exoc8	A	G	8: 125,622,219 (GRCm39)	V716A	probably benign	Het
Fam193a	T	A	5: 34,619,494 (GRCm39)	D766E	probably benign	Het
Fbxo43	C	A	15: 36,162,278 (GRCm39)	G310W	probably damaging	Het
Fcgbp	C	T	7: 27,819,785 (GRCm39)	T2504I	probably damaging	Het
Fnbp4	C	T	2: 90,587,876 (GRCm39)	P418L	probably benign	Het
Gjd2	T	C	2: 113,841,539 (GRCm39)	T313A	probably damaging	Het
Gm12695	T	A	4: 96,658,008 (GRCm39)	R54W	probably damaging	Het
Gm128	T	C	3: 95,148,051 (GRCm39)	D81G	possibly damaging	Het
Gm21834	A	G	17: 58,048,763 (GRCm39)	V151A	possibly damaging	Het
Grhl1	T	A	12: 24,636,151 (GRCm39)		probably null	Het
Hcn1	C	T	13: 118,112,619 (GRCm39)	T861I	probably damaging	Het
Herc6	C	A	6: 57,602,961 (GRCm39)	Q547K	probably benign	Het
Iqgap3	T	C	3: 88,027,474 (GRCm39)	L699P	probably damaging	Het
Kank4	T	C	4: 98,668,339 (GRCm39)	D36G	probably damaging	Het
Kcnk5	A	T	14: 20,192,277 (GRCm39)	S295T	probably damaging	Het
Krt18	T	C	15: 101,937,935 (GRCm39)	V144A	probably benign	Het
Krtap9-5	A	G	11: 99,840,030 (GRCm39)	I244V	unknown	Het
Leng1	T	G	7: 3,668,400 (GRCm39)	N16T	probably damaging	Het
Lss	A	G	10: 76,367,712 (GRCm39)	K15E	possibly damaging	Het
Mastl	G	T	2: 23,022,836 (GRCm39)	A629E	possibly damaging	Het
Mavs	G	C	2: 131,082,370 (GRCm39)	A85P	possibly damaging	Het
Nav3	T	C	10: 109,660,536 (GRCm39)	D678G	probably damaging	Het
Nsd3	T	G	8: 26,181,116 (GRCm39)	S906A	probably damaging	Het
Nsfl1c	A	G	2: 151,345,002 (GRCm39)	N118S	probably damaging	Het
Nup205	T	A	6: 35,207,451 (GRCm39)	M1501K	probably benign	Het
Or4p7	C	T	2: 88,221,882 (GRCm39)	T97M	possibly damaging	Het
Or6n1	T	A	1: 173,916,785 (GRCm39)	Y60N	possibly damaging	Het
Pax8	A	G	2: 24,326,520 (GRCm39)	S281P	probably benign	Het
Pds5b	T	G	5: 150,671,655 (GRCm39)	I433R	probably damaging	Het
Peg3	T	C	7: 6,715,720 (GRCm39)	N117D	probably damaging	Het
Pfkm	A	T	15: 98,029,573 (GRCm39)	D728V	probably benign	Het
Phkb	T	C	8: 86,776,450 (GRCm39)		probably null	Het
Ppfia2	T	A	10: 106,673,160 (GRCm39)	S501T	probably damaging	Het
Ptpru	T	C	4: 131,546,398 (GRCm39)	E284G	possibly damaging	Het
Ror1	C	T	4: 100,265,065 (GRCm39)	R180*	probably null	Het
Ryr3	T	A	2: 112,586,986 (GRCm39)	Y2666F	probably damaging	Het
Sec23a	C	A	12: 59,037,754 (GRCm39)		probably null	Het
Sertad3	C	T	7: 27,175,694 (GRCm39)	Q43*	probably null	Het
Setd2	C	T	9: 110,379,958 (GRCm39)	H1258Y	probably benign	Het
Sharpin	A	G	15: 76,232,407 (GRCm39)	S177P	probably benign	Het
Skap1	T	C	11: 96,432,289 (GRCm39)	F86S	possibly damaging	Het
Slc8a2	T	C	7: 15,874,940 (GRCm39)	I396T	probably damaging	Het
Slc9a2	T	C	1: 40,765,597 (GRCm39)	F329S	probably damaging	Het
Slx4ip	C	T	2: 136,908,125 (GRCm39)	L161F	possibly damaging	Het
Sox4	A	G	13: 29,136,764 (GRCm39)	S81P	probably damaging	Het
Ssc4d	G	T	5: 135,999,118 (GRCm39)	S28R	probably benign	Het
St8sia2	C	T	7: 73,592,950 (GRCm39)	G369S	possibly damaging	Het
Swt1	T	C	1: 151,248,081 (GRCm39)	Y836C	probably damaging	Het
Taar7d	A	G	10: 23,903,904 (GRCm39)	D262G	probably benign	Het
Taar8b	T	A	10: 23,967,212 (GRCm39)	L327F	probably benign	Het
Tars1	A	T	15: 11,393,280 (GRCm39)	L138*	probably null	Het
Tbcd	A	T	11: 121,344,496 (GRCm39)	D75V	probably damaging	Het
Tesc	A	G	5: 118,184,394 (GRCm39)	I25V	probably damaging	Het
Tmem132e	G	T	11: 82,331,264 (GRCm39)	S407I	probably damaging	Het
Tmem50b	C	A	16: 91,377,180 (GRCm39)	A95S	possibly damaging	Het
Tnr	T	C	1: 159,719,603 (GRCm39)	I960T	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpcn1	G	C	5: 120,681,453 (GRCm39)	P532A	probably damaging	Het
Tpsb2	T	C	17: 25,585,539 (GRCm39)		probably benign	Het
Triobp	C	A	15: 78,888,740 (GRCm39)	H1948Q	probably damaging	Het
Tshb	T	C	3: 102,684,857 (GRCm39)	I116V	probably benign	Het
Ttc13	A	T	8: 125,398,950 (GRCm39)		probably null	Het
Usp34	A	T	11: 23,414,468 (GRCm39)	T2804S	probably damaging	Het
Vmn2r18	A	T	5: 151,486,016 (GRCm39)	C493S	possibly damaging	Het
Vmn2r2	T	C	3: 64,024,766 (GRCm39)	K605R	possibly damaging	Het
Vmn2r37	T	C	7: 9,220,792 (GRCm39)	Y357C	probably damaging	Het
Zc3h6	T	G	2: 128,857,538 (GRCm39)	S686A	possibly damaging	Het
Zfp608	G	A	18: 55,121,386 (GRCm39)	P67L	probably benign	Het
Zyg11a	T	C	4: 108,049,244 (GRCm39)		probably benign	Het

Other mutations in Pkp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Pkp4	APN	2	59,169,099 (GRCm39)	missense	probably damaging	0.99
IGL00987:Pkp4	APN	2	59,138,701 (GRCm39)	missense	probably damaging	0.98
IGL01321:Pkp4	APN	2	59,180,971 (GRCm39)	splice site	probably null
IGL01393:Pkp4	APN	2	59,178,269 (GRCm39)	missense	probably damaging	1.00
IGL02058:Pkp4	APN	2	59,142,073 (GRCm39)	nonsense	probably null
IGL02313:Pkp4	APN	2	59,140,598 (GRCm39)	nonsense	probably null
IGL02635:Pkp4	APN	2	59,135,842 (GRCm39)	unclassified	probably benign
IGL03017:Pkp4	APN	2	59,096,769 (GRCm39)	missense	probably benign	0.06
IGL03051:Pkp4	APN	2	59,142,106 (GRCm39)	missense	probably benign	0.29
Degrasso	UTSW	2	59,148,944 (GRCm39)	missense	probably damaging	1.00
melted	UTSW	2	59,165,276 (GRCm39)	critical splice donor site	probably null
BB004:Pkp4	UTSW	2	59,142,098 (GRCm39)	missense	probably damaging	0.97
BB014:Pkp4	UTSW	2	59,142,098 (GRCm39)	missense	probably damaging	0.97
R0206:Pkp4	UTSW	2	59,096,780 (GRCm39)	missense	probably damaging	0.99
R0207:Pkp4	UTSW	2	59,135,832 (GRCm39)	missense	possibly damaging	0.89
R0208:Pkp4	UTSW	2	59,096,780 (GRCm39)	missense	probably damaging	0.99
R0325:Pkp4	UTSW	2	59,148,873 (GRCm39)	missense	probably damaging	1.00
R0620:Pkp4	UTSW	2	59,152,987 (GRCm39)	missense	possibly damaging	0.46
R0781:Pkp4	UTSW	2	59,169,109 (GRCm39)	missense	probably damaging	1.00
R1110:Pkp4	UTSW	2	59,169,109 (GRCm39)	missense	probably damaging	1.00
R1537:Pkp4	UTSW	2	59,045,147 (GRCm39)	missense	probably damaging	1.00
R1607:Pkp4	UTSW	2	59,152,898 (GRCm39)	missense	probably benign	0.00
R1654:Pkp4	UTSW	2	59,167,963 (GRCm39)	missense	probably damaging	0.96
R1760:Pkp4	UTSW	2	59,142,185 (GRCm39)	missense	probably damaging	0.97
R2871:Pkp4	UTSW	2	59,138,500 (GRCm39)	missense	probably benign	0.35
R2871:Pkp4	UTSW	2	59,138,500 (GRCm39)	missense	probably benign	0.35
R3161:Pkp4	UTSW	2	59,138,449 (GRCm39)	missense	probably damaging	1.00
R4261:Pkp4	UTSW	2	59,135,506 (GRCm39)	missense	probably damaging	1.00
R4342:Pkp4	UTSW	2	59,180,952 (GRCm39)	missense	probably damaging	0.98
R4731:Pkp4	UTSW	2	59,165,276 (GRCm39)	critical splice donor site	probably null
R4799:Pkp4	UTSW	2	59,172,449 (GRCm39)	missense	probably damaging	1.00
R4913:Pkp4	UTSW	2	59,135,794 (GRCm39)	missense	probably damaging	1.00
R5383:Pkp4	UTSW	2	59,140,617 (GRCm39)	nonsense	probably null
R5418:Pkp4	UTSW	2	59,140,506 (GRCm39)	missense	probably benign	0.09
R5906:Pkp4	UTSW	2	59,135,420 (GRCm39)	missense	possibly damaging	0.79
R5946:Pkp4	UTSW	2	59,135,411 (GRCm39)	missense	probably benign	0.01
R6360:Pkp4	UTSW	2	59,045,091 (GRCm39)	missense	probably benign	0.01
R6616:Pkp4	UTSW	2	59,180,896 (GRCm39)	nonsense	probably null
R6817:Pkp4	UTSW	2	59,148,944 (GRCm39)	missense	probably damaging	1.00
R7390:Pkp4	UTSW	2	59,140,484 (GRCm39)	missense	possibly damaging	0.94
R7408:Pkp4	UTSW	2	59,142,110 (GRCm39)	missense	probably damaging	1.00
R7464:Pkp4	UTSW	2	59,138,481 (GRCm39)	missense	probably benign	0.12
R7702:Pkp4	UTSW	2	59,138,757 (GRCm39)	missense	probably damaging	0.99
R7787:Pkp4	UTSW	2	59,152,881 (GRCm39)	missense	probably damaging	0.98
R7927:Pkp4	UTSW	2	59,142,098 (GRCm39)	missense	probably damaging	0.97
R8055:Pkp4	UTSW	2	59,138,359 (GRCm39)	missense	probably benign
R8359:Pkp4	UTSW	2	59,180,895 (GRCm39)	missense	probably damaging	1.00
R8465:Pkp4	UTSW	2	59,172,525 (GRCm39)	missense	possibly damaging	0.90
R8555:Pkp4	UTSW	2	59,138,379 (GRCm39)	nonsense	probably null
R8909:Pkp4	UTSW	2	59,184,758 (GRCm39)	missense	possibly damaging	0.71
R9224:Pkp4	UTSW	2	59,144,738 (GRCm39)	missense	probably benign	0.41
R9397:Pkp4	UTSW	2	59,148,856 (GRCm39)	nonsense	probably null
R9486:Pkp4	UTSW	2	59,138,722 (GRCm39)	missense	probably benign	0.27
R9583:Pkp4	UTSW	2	59,178,104 (GRCm39)	missense	possibly damaging	0.80
R9732:Pkp4	UTSW	2	59,138,797 (GRCm39)	missense	possibly damaging	0.94
Z1176:Pkp4	UTSW	2	59,172,588 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGATCGGGTTGCTGTAAG -3'
(R):5'- GTGTCTCCTCACACAGTAACAAAG -3'

Sequencing Primer
(F):5'- CCTGTCTTAAAGATGCAGGATCTCTG -3'
(R):5'- GTCTATAACCCTAAGCTATGAAGGAG -3'

Posted On

2014-09-17