Mutagenetix > Incidental Mutation

Incidental Mutation 'R9224:Pkp4'

699637

Institutional Source

Beutler Lab

Gene Symbol

Pkp4

Ensembl Gene

ENSMUSG00000026991

Gene Name

plakophilin 4

Synonyms

p0071, 5031422I09Rik, Armrp, 9430019K17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9224 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58991194-59185552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59144738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 533 (V533A)

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: V533A

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: V533A

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

SMART Domains

Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991

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: V533A

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: V533A

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

SMART Domains

Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,100 (GRCm39)	S229L	possibly damaging	Het
Actc1	TGA	T	2: 113,879,710 (GRCm39)		probably null	Het
Actl9	G	A	17: 33,653,004 (GRCm39)	A355T	probably benign	Het
Adamts8	A	G	9: 30,854,188 (GRCm39)	Q19R	probably benign	Het
Akr1c14	A	T	13: 4,130,695 (GRCm39)	Y216F	possibly damaging	Het
Alms1	T	C	6: 85,598,770 (GRCm39)	C1199R	possibly damaging	Het
Apc2	T	C	10: 80,150,111 (GRCm39)	S1722P	probably damaging	Het
Arid1a	T	C	4: 133,409,167 (GRCm39)	E1395G	unknown	Het
Atp6v0e2	T	C	6: 48,516,190 (GRCm39)	V46A	possibly damaging	Het
Bcar3	A	G	3: 122,319,091 (GRCm39)	R743G	probably damaging	Het
Bhmt2	A	G	13: 93,805,854 (GRCm39)	V56A	probably damaging	Het
Bsn	C	A	9: 107,982,686 (GRCm39)	R917L		Het
Cabyr	T	G	18: 12,887,278 (GRCm39)	V303G	possibly damaging	Het
Carmil1	A	T	13: 24,292,512 (GRCm39)	I429N	probably damaging	Het
Ccdc27	T	C	4: 154,122,174 (GRCm39)	N235D	unknown	Het
Ccdc61	T	C	7: 18,637,746 (GRCm39)	M37V	probably benign	Het
Cd40	A	T	2: 164,898,716 (GRCm39)	I48F	unknown	Het
Cdk13	A	T	13: 17,941,071 (GRCm39)	S664R	probably damaging	Het
Cel	TTA	TTATA	2: 28,449,441 (GRCm39)		probably null	Het
Cfap46	T	A	7: 139,258,416 (GRCm39)	R286*	probably null	Het
Ckap2	A	C	8: 22,659,954 (GRCm39)	I509S	possibly damaging	Het
Clptm1l	A	T	13: 73,752,344 (GRCm39)		probably benign	Het
Col11a1	T	G	3: 114,001,929 (GRCm39)	M1591R	unknown	Het
Col6a5	C	A	9: 105,814,594 (GRCm39)	A473S	unknown	Het
Cxcr2	T	A	1: 74,197,756 (GRCm39)	D83E	probably damaging	Het
Cyp2c39	G	A	19: 39,527,332 (GRCm39)	C226Y	probably benign	Het
Ddr1	A	C	17: 36,000,609 (GRCm39)	F352C	probably damaging	Het
Defb22	T	A	2: 152,327,721 (GRCm39)	T155S	unknown	Het
Dennd4c	G	T	4: 86,738,170 (GRCm39)	E935*	probably null	Het
Dst	A	C	1: 34,330,879 (GRCm39)	E4889D	probably damaging	Het
Efcab3	A	G	11: 104,661,801 (GRCm39)	Q1314R	probably benign	Het
Emilin1	T	A	5: 31,074,823 (GRCm39)	C355S	probably damaging	Het
Enpp3	C	T	10: 24,650,716 (GRCm39)	V807I	probably benign	Het
Fcnb	T	A	2: 27,969,160 (GRCm39)	D179V	probably damaging	Het
Ficd	T	A	5: 113,875,196 (GRCm39)	D88E	probably benign	Het
Fndc3b	T	C	3: 27,524,450 (GRCm39)	K437E	possibly damaging	Het
Fyb2	T	A	4: 104,853,105 (GRCm39)	W566R	probably benign	Het
Gm14403	A	G	2: 177,200,336 (GRCm39)	Q94R	probably benign	Het
Gm32687	T	A	10: 81,714,866 (GRCm39)	I86N	probably benign	Het
Gpam	T	G	19: 55,075,907 (GRCm39)	D235A	probably damaging	Het
Gstt4	T	C	10: 75,651,046 (GRCm39)	E192G	probably damaging	Het
H2-Q6	T	G	17: 35,644,309 (GRCm39)	V97G	probably benign	Het
Hcn1	G	A	13: 118,062,254 (GRCm39)	G507S	unknown	Het
Hydin	T	C	8: 111,259,516 (GRCm39)	I2496T	probably benign	Het
Jund	A	G	8: 71,151,864 (GRCm39)	D53G	probably damaging	Het
Kat6b	T	A	14: 21,720,031 (GRCm39)	M1461K	probably benign	Het
Lnx1	T	G	5: 74,766,810 (GRCm39)	K435Q	probably benign	Het
Lpcat1	C	A	13: 73,658,161 (GRCm39)	L316M	probably damaging	Het
Lrrtm3	ATTTT	ATTTTT	10: 63,925,035 (GRCm39)		probably null	Het
Ly6c1	T	A	15: 74,916,465 (GRCm39)	T126S	probably benign	Het
Macf1	A	G	4: 123,326,690 (GRCm39)	S4938P	probably damaging	Het
Map2k2	T	C	10: 80,954,008 (GRCm39)	V158A	possibly damaging	Het
Map3k4	A	G	17: 12,456,973 (GRCm39)	V1323A	probably damaging	Het
Map4k5	A	T	12: 69,939,467 (GRCm39)	V23E	possibly damaging	Het
Med30	T	G	15: 52,582,839 (GRCm39)	L92R	probably damaging	Het
Mroh8	C	T	2: 157,063,069 (GRCm39)	G851S	possibly damaging	Het
Msmb	T	A	14: 31,880,060 (GRCm39)	C83*	probably null	Het
Mtif2	A	T	11: 29,494,364 (GRCm39)	R655S	probably benign	Het
Myo10	C	T	15: 25,808,081 (GRCm39)	S1901L	probably benign	Het
Myom2	A	T	8: 15,178,804 (GRCm39)	I1279F	possibly damaging	Het
Nat9	T	C	11: 115,075,441 (GRCm39)	I67V	probably damaging	Het
Ncam1	A	G	9: 49,419,995 (GRCm39)	S774P	probably damaging	Het
Ndufaf6	T	C	4: 11,062,089 (GRCm39)	T181A	probably damaging	Het
Nlrp4f	T	A	13: 65,332,829 (GRCm39)	K110*	probably null	Het
Nlrp9b	T	C	7: 19,753,217 (GRCm39)	S41P	probably benign	Het
Nlrp9b	A	G	7: 19,757,476 (GRCm39)	T238A	probably benign	Het
Noxo1	A	T	17: 24,919,305 (GRCm39)	E342D	probably benign	Het
Nt5dc2	T	C	14: 30,857,665 (GRCm39)	M55T	probably benign	Het
Or1j14	A	T	2: 36,417,838 (GRCm39)	Q138L	probably benign	Het
Or2ag18	T	C	7: 106,405,489 (GRCm39)	Y60C	probably damaging	Het
Or2f1	T	C	6: 42,721,904 (GRCm39)	F311S	probably benign	Het
Or2h2c	T	C	17: 37,422,767 (GRCm39)	T36A	possibly damaging	Het
Or5al6	T	A	2: 85,976,220 (GRCm39)	N286I	probably damaging	Het
Or6c210	C	A	10: 129,496,007 (GRCm39)	L111M	probably damaging	Het
Or6c6	T	A	10: 129,186,450 (GRCm39)	M6K	probably benign	Het
Or9s18	C	T	13: 65,300,203 (GRCm39)	T55I	probably damaging	Het
P4ha2	C	T	11: 54,009,963 (GRCm39)	P240L	possibly damaging	Het
Pcdha11	T	A	18: 37,139,073 (GRCm39)	L234Q	probably damaging	Het
Pgm3	C	T	9: 86,438,415 (GRCm39)	A457T	probably benign	Het
Pira12	T	C	7: 3,900,234 (GRCm39)	T123A	probably benign	Het
Plac8l1	T	C	18: 42,325,702 (GRCm39)	T68A	possibly damaging	Het
Pou2f3	A	T	9: 43,050,694 (GRCm39)	I222N	probably damaging	Het
Ppp1r14d	T	C	2: 119,060,222 (GRCm39)	D20G	probably benign	Het
Ppp1r37	C	A	7: 19,265,729 (GRCm39)	G679V	probably damaging	Het
Ppp6r2	T	A	15: 89,146,599 (GRCm39)	I199N	probably damaging	Het
Prune2	A	G	19: 17,097,393 (GRCm39)	T966A	probably damaging	Het
Ptdss2	T	C	7: 140,734,798 (GRCm39)	V375A	probably benign	Het
Rara	TGCCCCGC	TGCCCCGCCCCGC	11: 98,857,236 (GRCm39)		probably null	Het
Rin2	T	A	2: 145,720,822 (GRCm39)	C718*	probably null	Het
Rptor	C	T	11: 119,785,113 (GRCm39)	T1170I	probably benign	Het
Samd5	T	C	10: 9,550,259 (GRCm39)	Y150C	probably damaging	Het
Setd1b	T	C	5: 123,296,773 (GRCm39)	S1245P	unknown	Het
Sipa1l2	T	C	8: 126,218,716 (GRCm39)	E207G	probably damaging	Het
Slc29a1	C	A	17: 45,897,153 (GRCm39)	V378L	probably damaging	Het
Slc2a12	T	G	10: 22,541,261 (GRCm39)	I372S	possibly damaging	Het
Slc7a10	T	A	7: 34,894,639 (GRCm39)	Y99*	probably null	Het
Smco3	A	G	6: 136,808,517 (GRCm39)	V119A	probably damaging	Het
Sptlc3	C	T	2: 139,336,154 (GRCm39)	T10I	probably benign	Het
Sri	T	A	5: 8,113,323 (GRCm39)	W105R	probably damaging	Het
Stk35	T	C	2: 129,652,491 (GRCm39)	Y331H	probably damaging	Het
Tipin	T	C	9: 64,195,430 (GRCm39)	I12T	probably benign	Het
Tlr5	A	G	1: 182,802,693 (GRCm39)	T666A	probably benign	Het
Tmprss11g	C	A	5: 86,640,003 (GRCm39)	V222L	probably benign	Het
Tnfrsf11b	T	A	15: 54,115,556 (GRCm39)	Y347F	possibly damaging	Het
Traf6	A	G	2: 101,527,512 (GRCm39)	T421A	probably benign	Het
Trrap	T	A	5: 144,708,049 (GRCm39)	D30E	possibly damaging	Het
Ube2k	T	A	5: 65,751,847 (GRCm39)	Y162N	probably damaging	Het
Uck2	A	T	1: 167,065,171 (GRCm39)	V49E	probably damaging	Het
Vcam1	A	T	3: 115,904,592 (GRCm39)	Y718*	probably null	Het
Zan	T	C	5: 137,472,269 (GRCm39)	N159S	probably damaging	Het
Zfp438	A	G	18: 5,210,788 (GRCm39)	L750P	probably damaging	Het
Zfp54	A	T	17: 21,654,037 (GRCm39)	Y177F	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
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
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'- CCTTGAACACCCAGAATCTAGTG -3'
(R):5'- ACACTGAGGTTATAGTAAAAGGCAC -3'

Sequencing Primer
(F):5'- ACACCCAGAATCTAGTGTTATTACTG -3'
(R):5'- GACCACGGGGCGACTTTAATAC -3'

Posted On

2022-02-07