Mutagenetix > Incidental Mutation

Incidental Mutation 'R0325:Pkp4'

25689

Institutional Source

Beutler Lab

Gene Symbol

Pkp4

Ensembl Gene

ENSMUSG00000026991

Gene Name

plakophilin 4

Synonyms

p0071, 5031422I09Rik, Armrp, 9430019K17Rik

MMRRC Submission

038535-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0325 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58991194-59185552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59148873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 542 (D542G)

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 damaging
Transcript: ENSMUST00000037903
AA Change: D542G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: D542G

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 damaging
Transcript: ENSMUST00000102754
AA Change: D526G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: D526G

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 damaging
Transcript: ENSMUST00000112577
AA Change: D185G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108196
Gene: ENSMUSG00000026991
AA Change: D185G

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 damaging
Transcript: ENSMUST00000123908
AA Change: D542G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: D542G

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 damaging
Transcript: ENSMUST00000168631
AA Change: D526G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: D526G

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: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.0%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	C	4: 144,282,081 (GRCm39)	Y237C	probably damaging	Het
Adcyap1	A	G	17: 93,510,260 (GRCm39)	D96G	probably benign	Het
Adgrv1	C	T	13: 81,688,134 (GRCm39)	V1749M	probably damaging	Het
Adnp2	A	T	18: 80,173,868 (GRCm39)	N180K	probably benign	Het
Ahdc1	G	T	4: 132,790,030 (GRCm39)	A424S	unknown	Het
Alpk3	G	A	7: 80,717,701 (GRCm39)	R86H	possibly damaging	Het
Atf7ip	A	C	6: 136,537,987 (GRCm39)	T49P	possibly damaging	Het
Atp7b	G	A	8: 22,518,467 (GRCm39)	L124F	probably benign	Het
Bub1	A	T	2: 127,643,314 (GRCm39)	L1010*	probably null	Het
Cd300c	C	A	11: 114,850,411 (GRCm39)	E131*	probably null	Het
Cep135	A	G	5: 76,763,590 (GRCm39)	K527E	probably damaging	Het
Cfd	G	T	10: 79,727,592 (GRCm39)	E89*	probably null	Het
Crb1	A	C	1: 139,168,904 (GRCm39)	C871W	probably damaging	Het
D6Ertd527e	A	T	6: 87,088,277 (GRCm39)	S147C	unknown	Het
Ddx60	A	T	8: 62,436,889 (GRCm39)	E946D	probably benign	Het
Dmrt1	G	A	19: 25,523,371 (GRCm39)	E241K	probably benign	Het
Dnah11	C	G	12: 117,976,074 (GRCm39)	V2782L	probably benign	Het
Dzip1	T	C	14: 119,146,969 (GRCm39)	I313M	probably damaging	Het
Egln3	T	C	12: 54,250,298 (GRCm39)	E17G	probably benign	Het
Eif3d	A	G	15: 77,852,420 (GRCm39)	V42A	probably damaging	Het
Elapor1	A	G	3: 108,368,567 (GRCm39)	L808P	probably damaging	Het
Eogt	C	A	6: 97,090,916 (GRCm39)	G408W	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Fmn2	T	A	1: 174,437,520 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,521,579 (GRCm39)	E532G	probably damaging	Het
Gabrb3	T	C	7: 57,415,278 (GRCm39)	L116P	probably damaging	Het
Galnt6	A	T	15: 100,591,352 (GRCm39)		probably null	Het
Glmp	G	A	3: 88,232,391 (GRCm39)	M1I	probably null	Het
Gm5478	T	C	15: 101,552,761 (GRCm39)	D79G	probably damaging	Het
Gnb1	T	G	4: 155,636,140 (GRCm39)	D153E	probably benign	Het
Grik2	T	C	10: 49,116,821 (GRCm39)	I86V	probably damaging	Het
Hdac3	C	T	18: 38,074,005 (GRCm39)		probably null	Het
Hdgfl2	G	A	17: 56,406,181 (GRCm39)	R523H	possibly damaging	Het
Ifngr1	T	A	10: 19,473,180 (GRCm39)	N43K	probably damaging	Het
Iqgap1	A	G	7: 80,401,678 (GRCm39)	W476R	probably benign	Het
Jag1	A	G	2: 136,937,365 (GRCm39)		probably null	Het
Kars1	T	C	8: 112,734,848 (GRCm39)	D46G	probably benign	Het
Kcnd2	A	G	6: 21,216,682 (GRCm39)	I129V	probably damaging	Het
Lama3	A	C	18: 12,615,183 (GRCm39)	D1369A	probably damaging	Het
Lars1	A	T	18: 42,383,967 (GRCm39)	V76E	possibly damaging	Het
Lgals9	T	C	11: 78,854,274 (GRCm39)	I337V	probably damaging	Het
Lrp1b	T	C	2: 40,741,723 (GRCm39)	D3068G	probably damaging	Het
Med12l	A	G	3: 58,984,480 (GRCm39)	T462A	possibly damaging	Het
Megf9	T	A	4: 70,374,178 (GRCm39)	D286V	probably damaging	Het
Meox1	T	A	11: 101,770,227 (GRCm39)	S167C	probably damaging	Het
Mier2	C	T	10: 79,378,430 (GRCm39)		probably null	Het
Mrps2	C	A	2: 28,359,791 (GRCm39)	T216K	probably damaging	Het
Mto1	A	T	9: 78,360,286 (GRCm39)	D258V	probably damaging	Het
Mug1	A	T	6: 121,826,801 (GRCm39)	H208L	probably benign	Het
Myo15b	T	A	11: 115,775,091 (GRCm39)	I751N	probably damaging	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ndrg4	T	A	8: 96,437,563 (GRCm39)	M17K	probably damaging	Het
Nfrkb	T	G	9: 31,325,476 (GRCm39)	M973R	probably benign	Het
Nxph4	C	T	10: 127,362,780 (GRCm39)	R37H	probably damaging	Het
Oas1e	A	G	5: 120,933,460 (GRCm39)	I35T	probably damaging	Het
Oc90	C	T	15: 65,769,514 (GRCm39)		probably null	Het
Or4b12	A	T	2: 90,095,880 (GRCm39)	M298K	probably null	Het
Or52d3	A	T	7: 104,229,567 (GRCm39)	D238V	probably damaging	Het
Or8j3	G	A	2: 86,029,055 (GRCm39)	L14F	possibly damaging	Het
Or8k30	A	T	2: 86,339,549 (GRCm39)	T249S	probably benign	Het
Or9a7	A	T	6: 40,521,057 (GRCm39)	N285K	possibly damaging	Het
Papola	T	A	12: 105,773,452 (GRCm39)	I157N	probably damaging	Het
Pcyox1l	G	C	18: 61,830,964 (GRCm39)	P303A	possibly damaging	Het
Pkdrej	T	C	15: 85,703,752 (GRCm39)	N728S	probably benign	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Poln	C	T	5: 34,307,108 (GRCm39)	R31H	probably benign	Het
Ppp3ca	G	A	3: 136,640,900 (GRCm39)	A484T	probably benign	Het
Prag1	A	G	8: 36,570,958 (GRCm39)	T514A	probably benign	Het
Pramel28	A	T	4: 143,693,310 (GRCm39)	V56E	probably damaging	Het
Prex2	G	A	1: 11,270,281 (GRCm39)		probably null	Het
Prrc2b	G	T	2: 32,089,103 (GRCm39)	W403L	probably damaging	Het
Pter	A	T	2: 13,005,748 (GRCm39)	K307M	probably damaging	Het
Ptpn5	G	A	7: 46,740,506 (GRCm39)	S99L	probably benign	Het
Ptpn5	A	C	7: 46,740,507 (GRCm39)	S99A	probably benign	Het
Rpap1	A	C	2: 119,602,321 (GRCm39)	H674Q	probably benign	Het
Rph3a	A	T	5: 121,081,127 (GRCm39)	D623E	probably benign	Het
Sdr9c7	G	T	10: 127,734,588 (GRCm39)	E25D	probably benign	Het
Septin9	T	G	11: 117,247,458 (GRCm39)	V479G	probably damaging	Het
Sgo2a	A	G	1: 58,055,856 (GRCm39)	D680G	probably benign	Het
Sgo2b	A	T	8: 64,381,410 (GRCm39)	I474N	probably benign	Het
Sgsm1	A	T	5: 113,436,701 (GRCm39)	I43N	probably damaging	Het
Shprh	G	A	10: 11,045,853 (GRCm39)	M891I	probably benign	Het
Skic2	A	T	17: 35,063,791 (GRCm39)	Y551N	possibly damaging	Het
Slc12a9	A	G	5: 137,321,108 (GRCm39)	M469T	probably damaging	Het
Slc4a2	A	T	5: 24,640,941 (GRCm39)	I747F	probably damaging	Het
Slc7a6	T	A	8: 106,921,149 (GRCm39)	N373K	probably damaging	Het
Slc7a6os	T	C	8: 106,927,688 (GRCm39)	D296G	probably benign	Het
Sncaip	A	G	18: 53,038,881 (GRCm39)	T120A	probably damaging	Het
Sorcs1	G	C	19: 50,301,480 (GRCm39)		probably null	Het
Spata16	A	G	3: 26,721,605 (GRCm39)	E42G	probably damaging	Het
Spata31e2	G	T	1: 26,724,347 (GRCm39)	Q278K	possibly damaging	Het
Syne2	A	T	12: 76,009,415 (GRCm39)	M2440L	probably benign	Het
Taf7l2	T	C	10: 115,949,474 (GRCm39)	I17M	probably damaging	Het
Tead2	A	G	7: 44,875,179 (GRCm39)	E232G	probably damaging	Het
Tmf1	T	G	6: 97,153,465 (GRCm39)	T203P	possibly damaging	Het
Trrap	C	A	5: 144,753,205 (GRCm39)	H1843Q	probably benign	Het
Unc79	C	A	12: 103,137,903 (GRCm39)	Q2314K	probably damaging	Het
Unc80	G	T	1: 66,550,040 (GRCm39)	G766V	probably damaging	Het
Vmn1r217	A	G	13: 23,298,764 (GRCm39)	L46P	probably damaging	Het
Vmn2r80	A	T	10: 78,984,773 (GRCm39)	I42F	possibly damaging	Het
Vwa5a	T	C	9: 38,639,961 (GRCm39)	V403A	probably damaging	Het
Zfp42	T	C	8: 43,748,988 (GRCm39)	E171G	probably damaging	Het
Zfp64	A	T	2: 168,767,960 (GRCm39)	S551T	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
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
R2051:Pkp4	UTSW	2	59,165,248 (GRCm39)	missense	probably benign	0.37
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'- TCTGAACAATCACCATGATTTCCCACC -3'
(R):5'- GCTGCTAAGTGGAAGGCACAGTG -3'

Sequencing Primer
(F):5'- GGGGTGATATCTCACTCAGCTAAATC -3'
(R):5'- TGTCACCAAAGCACAGATGC -3'

Posted On

2013-04-16