Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Pkp4'

253677

Institutional Source

Beutler Lab

Gene Symbol

Pkp4

Ensembl Gene

ENSMUSG00000026991

Gene Name

plakophilin 4

Synonyms

Armrp, 9430019K17Rik, 5031422I09Rik, p0071

MMRRC Submission

040459-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59160850-59355208 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59308156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 250 (T250K)

Ref Sequence

ENSEMBL: ENSMUSP00000122152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037903] [ENSMUST00000102754] [ENSMUST00000112577] [ENSMUST00000123908] [ENSMUST00000168631] [ENSMUST00000183359] [ENSMUST00000184332] [ENSMUST00000184705]

AlphaFold

Q68FH0

Predicted Effect

probably benign
Transcript: ENSMUST00000037903
AA Change: T250K

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: T250K

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: T250K

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: T250K

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

SMART Domains

Protein: ENSMUSP00000108196
Gene: ENSMUSG00000026991

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: T250K

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: T250K

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 benign
Transcript: ENSMUST00000168631
AA Change: T250K

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: T250K

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

noncoding transcript
Transcript: ENSMUST00000183625

Predicted Effect

probably benign
Transcript: ENSMUST00000184332

Predicted Effect

probably benign
Transcript: ENSMUST00000184705

Coding Region Coverage

1x: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Akap8l	G	A	17: 32,338,442	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,022,260		probably null	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644		probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401	D433N	probably damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813	R520S	probably benign	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lpo	A	G	11: 87,816,524	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,452,723	I532V	probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848	C109*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr45	A	G	7: 140,691,285	I127V	possibly damaging	Het
Olfr71	C	A	4: 43,706,458	V37L	probably benign	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	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
R0620:Pkp4	UTSW	2	59322643	missense	possibly damaging	0.46
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
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
R9486:Pkp4	UTSW	2	59308378	missense	probably benign	0.27
R9583:Pkp4	UTSW	2	59347760	missense	possibly damaging	0.80
Z1176:Pkp4	UTSW	2	59342244	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCCCTGGATAAACCCGTTCTC -3'
(R):5'- TACTCGAGTCTGGGCATCAGTC -3'

Sequencing Primer
(F):5'- CTGGATAAACCCGTTCTCTTTTC -3'
(R):5'- GCATCAGTCAGGGTCAGTG -3'

Posted On

2014-12-04