Mutagenetix > Incidental Mutation

Incidental Mutation 'R1760:Pkp4'

192656

Institutional Source

Beutler Lab

Gene Symbol

Pkp4

Ensembl Gene

ENSMUSG00000026991

Gene Name

plakophilin 4

Synonyms

p0071, 5031422I09Rik, Armrp, 9430019K17Rik

MMRRC Submission

039792-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58991194-59185552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59142185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 496 (L496P)

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 damaging
Transcript: ENSMUST00000037903
AA Change: L496P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: L496P

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: L496P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: L496P

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

possibly damaging
Transcript: ENSMUST00000112577
AA Change: L155P

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108196
Gene: ENSMUSG00000026991
AA Change: L155P

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: L496P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: L496P

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: ENSMUST00000124725

Predicted Effect

probably damaging
Transcript: ENSMUST00000168631
AA Change: L496P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: L496P

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

0.2860

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

97% (95/98)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,055 (GRCm39)	S1585P	probably benign	Het
Abhd16b	T	C	2: 181,135,197 (GRCm39)	F33S	probably damaging	Het
Adgra2	G	A	8: 27,609,795 (GRCm39)	R856Q	probably damaging	Het
Aff3	A	T	1: 38,368,945 (GRCm39)		probably benign	Het
Anxa2	A	T	9: 69,397,049 (GRCm39)	Y251F	probably benign	Het
Arid1b	A	G	17: 5,392,088 (GRCm39)	T1873A	probably damaging	Het
Baz1b	C	A	5: 135,271,378 (GRCm39)	D1320E	probably benign	Het
Bbs1	A	T	19: 4,944,350 (GRCm39)	S426R	probably benign	Het
Bid	A	G	6: 120,877,209 (GRCm39)	V44A	possibly damaging	Het
Ccdc60	T	A	5: 116,310,532 (GRCm39)	M177L	probably damaging	Het
Cdh23	G	A	10: 60,161,855 (GRCm39)	T1997M	probably damaging	Het
Cdh5	T	A	8: 104,854,801 (GRCm39)	M243K	probably benign	Het
Clpb	T	A	7: 101,435,905 (GRCm39)	V578E	possibly damaging	Het
Cngb1	C	A	8: 96,026,328 (GRCm39)	C151F	probably benign	Het
Cntnap5b	T	C	1: 99,700,535 (GRCm39)	S16P	probably benign	Het
Cr1l	T	A	1: 194,797,123 (GRCm39)	M305L	probably benign	Het
Ctnnal1	A	T	4: 56,838,988 (GRCm39)	M235K	probably damaging	Het
Ddx55	A	T	5: 124,706,176 (GRCm39)	R534W	probably damaging	Het
Dip2b	T	A	15: 100,109,910 (GRCm39)	L1465Q	probably damaging	Het
Dnah9	G	T	11: 65,872,048 (GRCm39)	D2727E	probably benign	Het
Dph3b-ps	A	C	13: 106,683,497 (GRCm39)		noncoding transcript	Het
Dst	T	A	1: 34,267,684 (GRCm39)	L2702Q	probably damaging	Het
Efnb2	T	C	8: 8,673,184 (GRCm39)	T158A	possibly damaging	Het
Exosc10	A	T	4: 148,662,926 (GRCm39)	K712*	probably null	Het
Fgr	T	C	4: 132,725,653 (GRCm39)	V354A	possibly damaging	Het
Fsip2	A	G	2: 82,830,185 (GRCm39)	D6893G	possibly damaging	Het
Fsip2	G	A	2: 82,815,240 (GRCm39)	V3658M	probably benign	Het
Fsip2	A	T	2: 82,818,055 (GRCm39)	H4596L	possibly damaging	Het
Gm1527	G	A	3: 28,949,699 (GRCm39)		probably benign	Het
Gm5150	G	T	3: 16,060,468 (GRCm39)	Q7K	probably benign	Het
Gpr155	C	T	2: 73,212,279 (GRCm39)	V115M	probably damaging	Het
Gpr75	T	C	11: 30,841,527 (GRCm39)	L144P	probably damaging	Het
Gsn	T	A	2: 35,174,835 (GRCm39)	Y127N	probably damaging	Het
Hk1	A	G	10: 62,117,678 (GRCm39)	L615S	probably damaging	Het
Igsf9b	A	G	9: 27,229,123 (GRCm39)	T194A	possibly damaging	Het
Il17rd	C	T	14: 26,813,763 (GRCm39)	Q46*	probably null	Het
Jak1	T	A	4: 101,020,126 (GRCm39)	M678L	probably benign	Het
Kif6	T	C	17: 49,922,311 (GRCm39)	V16A	probably benign	Het
Kpna3	T	C	14: 61,607,990 (GRCm39)	E405G	probably benign	Het
Lmtk2	C	A	5: 144,110,993 (GRCm39)	T571K	probably damaging	Het
Mucl2	T	C	15: 103,927,838 (GRCm39)	T40A	possibly damaging	Het
Myh11	G	A	16: 14,051,559 (GRCm39)		probably benign	Het
Myh7	C	T	14: 55,210,170 (GRCm39)	R1845Q	probably damaging	Het
Myo1f	T	A	17: 33,805,172 (GRCm39)	L480Q	probably benign	Het
Nek9	T	G	12: 85,352,364 (GRCm39)	D833A	possibly damaging	Het
Nek9	T	C	12: 85,357,184 (GRCm39)	E660G	probably benign	Het
Or10z1	C	T	1: 174,077,926 (GRCm39)	C189Y	probably damaging	Het
Or2a12	A	G	6: 42,904,431 (GRCm39)	I89V	possibly damaging	Het
Or2t45	A	G	11: 58,669,195 (GRCm39)	M81V	possibly damaging	Het
Or5h18	T	C	16: 58,847,350 (GRCm39)	R307G	probably benign	Het
Or6c65	T	A	10: 129,603,417 (GRCm39)	D17E	probably benign	Het
Or6f2	G	A	7: 139,756,188 (GRCm39)	V52M	probably damaging	Het
Or7s1a-ps1	T	A	9: 18,843,791 (GRCm39)		probably benign	Het
Otud3	G	T	4: 138,623,092 (GRCm39)	T383K	possibly damaging	Het
Pla2g4e	C	A	2: 120,000,527 (GRCm39)	A737S	possibly damaging	Het
Pla2g4f	T	C	2: 120,144,547 (GRCm39)		probably benign	Het
Plxnd1	A	T	6: 115,944,740 (GRCm39)	V1018E	possibly damaging	Het
Ppp1r21	T	G	17: 88,869,653 (GRCm39)	V402G	possibly damaging	Het
Prkcq	T	G	2: 11,304,881 (GRCm39)	M690R	probably damaging	Het
Ptpra	T	C	2: 130,391,747 (GRCm39)	I719T	probably damaging	Het
Rab3ip	C	T	10: 116,773,415 (GRCm39)	D133N	probably damaging	Het
Relch	T	G	1: 105,647,169 (GRCm39)		probably benign	Het
Rsbn1	T	A	3: 103,867,347 (GRCm39)	Y563N	probably damaging	Het
Rtf1	A	C	2: 119,558,889 (GRCm39)	D530A	probably benign	Het
Rybp	G	T	6: 100,209,224 (GRCm39)	S199R	probably benign	Het
Sema5a	T	G	15: 32,641,252 (GRCm39)	C689G	probably damaging	Het
Senp6	T	A	9: 80,025,911 (GRCm39)	V314E	probably benign	Het
Setd1a	T	A	7: 127,385,062 (GRCm39)	C47S	possibly damaging	Het
Slamf1	C	A	1: 171,604,734 (GRCm39)	T168K	probably benign	Het
Slc12a5	T	C	2: 164,838,048 (GRCm39)	S937P	probably damaging	Het
Slc38a11	C	T	2: 65,185,663 (GRCm39)		probably null	Het
Slc6a2	C	T	8: 93,687,846 (GRCm39)		probably benign	Het
Snw1	A	T	12: 87,511,459 (GRCm39)	F64Y	probably benign	Het
Spata9	A	C	13: 76,146,643 (GRCm39)	I172L	probably benign	Het
Sphkap	T	C	1: 83,255,265 (GRCm39)	H828R	probably benign	Het
Spmip6	T	A	4: 41,507,330 (GRCm39)		probably null	Het
Tmem94	A	T	11: 115,687,580 (GRCm39)	K1146N	probably damaging	Het
Trdn	A	G	10: 33,109,883 (GRCm39)	T294A	possibly damaging	Het
Tsc22d1	T	C	14: 76,654,388 (GRCm39)	V289A	possibly damaging	Het
Tti1	C	A	2: 157,834,955 (GRCm39)	V1002L	possibly damaging	Het
Tubgcp4	T	A	2: 121,019,952 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,643,180 (GRCm39)	E4181K	possibly damaging	Het
Uvrag	A	G	7: 98,537,555 (GRCm39)	S547P	probably benign	Het
Vav3	T	C	3: 109,248,443 (GRCm39)	V30A	possibly damaging	Het
Vegfa	A	G	17: 46,336,395 (GRCm39)	Y242H	probably damaging	Het
Vmn2r75	G	T	7: 85,798,019 (GRCm39)	T598K	probably damaging	Het
Vps13b	C	T	15: 35,884,765 (GRCm39)	S3146L	possibly damaging	Het
Vrk3	A	G	7: 44,417,895 (GRCm39)	Y310C	probably damaging	Het
Zfhx4	A	G	3: 5,447,676 (GRCm39)	K1100R	probably benign	Het
Zfp748	T	A	13: 67,693,540 (GRCm39)		probably null	Het
Zfp760	A	T	17: 21,941,311 (GRCm39)	D162V	probably damaging	Het
Znfx1	T	A	2: 166,881,786 (GRCm39)	M1068L	probably damaging	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
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'- AAGCAGACTCCTGGCTTCATTGG -3'
(R):5'- TGATGAATGCTACACACATGCCCAC -3'

Sequencing Primer
(F):5'- TGCGACTCTGTGAAGAACATAC -3'
(R):5'- TGAAGTCAGCCTCAGTGACC -3'

Posted On

2014-05-23