Mutagenetix > Incidental Mutation

Incidental Mutation 'R7464:Pkp4'

578607

Institutional Source

Beutler Lab

Gene Symbol

Pkp4

Ensembl Gene

ENSMUSG00000026991

Gene Name

plakophilin 4

Synonyms

Armrp, 9430019K17Rik, 5031422I09Rik, p0071

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7464 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59160850-59355208 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59308137 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 244 (F244I)

Ref Sequence

ENSEMBL: ENSMUSP00000099815 (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: F244I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: F244I

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: F244I

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: F244I

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: F244I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: F244I

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

probably benign
Transcript: ENSMUST00000168631
AA Change: F244I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: F244I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184705

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (79/82)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,077,153	G736R	possibly damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Ankar	A	T	1: 72,698,894	V43E	possibly damaging	Het
Apof	A	G	10: 128,269,636	I220V	probably benign	Het
Asxl1	G	T	2: 153,397,785	A499S	probably benign	Het
Baz2a	T	A	10: 128,122,073	D1069E	possibly damaging	Het
Baz2b	T	C	2: 59,977,448	T156A	possibly damaging	Het
Bbc3	A	T	7: 16,317,157	R169W	unknown	Het
C5ar1	T	A	7: 16,248,766	I110L	probably benign	Het
C87414	C	T	5: 93,636,240	C455Y	probably damaging	Het
Cd19	C	A	7: 126,411,803	R323L	probably damaging	Het
Cdc14b	A	T	13: 64,196,675	C113*	probably null	Het
Cngb1	C	A	8: 95,254,183	W914L	possibly damaging	Het
Colgalt2	A	G	1: 152,504,144	K445E	probably damaging	Het
Crebrf	A	G	17: 26,763,487	M608V	unknown	Het
Csf1	T	A	3: 107,748,875	H280L	probably benign	Het
Cyp2j11	C	A	4: 96,345,120	R113L	probably damaging	Het
D5Ertd579e	G	A	5: 36,613,785	H1089Y	probably damaging	Het
Ddx60	C	T	8: 61,940,674	T48M	possibly damaging	Het
Dock10	T	C	1: 80,540,315	D1315G	probably damaging	Het
Dock2	T	G	11: 34,695,278	N526H	probably damaging	Het
Dram2	T	C	3: 106,573,683	*268Q	probably null	Het
Emc8	A	G	8: 120,667,918	Y21H	possibly damaging	Het
Fam162a	A	G	16: 36,071,493	L4P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbxw10	T	A	11: 62,853,298	I307N	probably benign	Het
Fbxw16	A	G	9: 109,439,551	V257A	possibly damaging	Het
Fer1l6	T	A	15: 58,573,247		probably null	Het
Galnt7	A	G	8: 57,584,020	Y112H	possibly damaging	Het
Gigyf2	T	C	1: 87,428,604	I803T	unknown	Het
Gm10696	A	T	3: 94,176,104	N133K	probably benign	Het
Gm15292	T	A	8: 21,249,894	S45T	probably damaging	Het
Gm28729	A	G	9: 96,521,235	I44T	possibly damaging	Het
Gm5447	A	G	13: 30,974,394	I34V	not run	Het
H2-M9	A	T	17: 36,642,411		probably null	Het
Helz	G	A	11: 107,636,278	C864Y	probably damaging	Het
Il25	A	G	14: 54,933,222	Y84C	probably null	Het
Itga10	T	A	3: 96,648,155	C142S	probably damaging	Het
Kcna10	A	T	3: 107,194,079	M9L	probably damaging	Het
Klhl6	G	T	16: 19,957,113	Q232K	possibly damaging	Het
Mb21d2	T	G	16: 28,929,546	I40L	possibly damaging	Het
Mdm1	T	C	10: 118,152,266	S334P	probably benign	Het
Mllt10	T	A	2: 18,170,279	D549E	probably benign	Het
Mlxipl	T	C	5: 135,133,628	V648A	probably benign	Het
Nars2	A	G	7: 97,039,930	K353R	probably benign	Het
Nav1	T	A	1: 135,584,909	M138L	probably benign	Het
Neb	T	C	2: 52,193,890	T5635A	probably benign	Het
Nktr	A	C	9: 121,750,327	I1154L	unknown	Het
Olfr1284	T	A	2: 111,379,198	L66Q	probably damaging	Het
Olfr47	T	G	6: 43,236,294	S229A	probably damaging	Het
Olfr761	A	T	17: 37,952,280	V248D	probably damaging	Het
Oxld1	T	C	11: 120,457,137	D78G	probably benign	Het
Pde1b	T	C	15: 103,524,829	I255T	probably benign	Het
Polg2	C	A	11: 106,773,714	V305L	probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Sash1	T	C	10: 8,756,745	D242G	possibly damaging	Het
Six4	T	C	12: 73,112,530	T219A	possibly damaging	Het
Slc28a3	A	C	13: 58,563,021	Y562*	probably null	Het
Soat1	A	T	1: 156,439,317	W310R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Spef2	T	C	15: 9,740,585	N30D	probably benign	Het
Srebf2	T	A	15: 82,172,874	I270N	probably damaging	Het
St8sia3	T	C	18: 64,271,518	W289R	probably damaging	Het
Stx5a	T	A	19: 8,743,504		probably benign	Het
Tacc1	T	C	8: 25,164,464	D689G	probably damaging	Het
Tacc3	A	G	5: 33,661,284	D21G	probably benign	Het
Tapt1	G	A	5: 44,188,688	R307*	probably null	Het
Tbc1d9b	T	A	11: 50,131,485	V16E	probably damaging	Het
Tchhl1	G	A	3: 93,470,664	R225K	probably benign	Het
Thumpd3	G	A	6: 113,055,769	G156D	probably benign	Het
Tmem178	C	T	17: 80,944,902	P72S	probably benign	Het
Tmem52	C	T	4: 155,469,469	P46S	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tulp3	A	T	6: 128,326,829	V269D	probably benign	Het
Ubr1	A	G	2: 120,889,774		probably null	Het
Upf1	G	A	8: 70,333,423	S962L	probably benign	Het
Vcpip1	C	T	1: 9,746,520	R546Q	probably damaging	Het
Vmn2r49	A	C	7: 9,988,893	S151R	probably benign	Het
Wac	T	C	18: 7,871,746		probably null	Het
Wrn	C	T	8: 33,335,996		probably null	Het
Zfp286	C	A	11: 62,780,801	D149Y	probably benign	Het
Zfp748	A	G	13: 67,541,972	C390R	probably damaging	Het
Zfp873	A	G	10: 82,060,376	T314A	possibly damaging	Het
Zfyve1	C	T	12: 83,551,487	D656N	probably benign	Het
Zmym1	T	A	4: 127,058,935	K18*	probably null	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
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
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
R9732:Pkp4	UTSW	2	59308453	missense	possibly damaging	0.94
Z1176:Pkp4	UTSW	2	59342244	critical splice donor site	probably null

Predicted Primers

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

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

Posted On

2019-10-07