Mutagenetix > Incidental Mutation

Incidental Mutation 'R0153:Pkp3'

22837

Institutional Source

Beutler Lab

Gene Symbol

Pkp3

Ensembl Gene

ENSMUSG00000054065

Gene Name

plakophilin 3

Synonyms

2310056L12Rik

MMRRC Submission

038436-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R0153 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

140658202-140670424 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140663256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 367 (Y367C)

Ref Sequence

ENSEMBL: ENSMUSP00000101654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066873] [ENSMUST00000106039] [ENSMUST00000159375] [ENSMUST00000160869] [ENSMUST00000163041]

AlphaFold

Q9QY23

Predicted Effect

probably damaging
Transcript: ENSMUST00000066873
AA Change: Y342C

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

SMART Domains

Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065
AA Change: Y342C

Domain	Start	End	E-Value	Type
low complexity region	40	54	N/A	INTRINSIC
low complexity region	139	150	N/A	INTRINSIC
low complexity region	179	194	N/A	INTRINSIC
low complexity region	219	228	N/A	INTRINSIC
ARM	350	390	8.11e-5	SMART
ARM	392	432	3.24e-4	SMART
ARM	489	536	3.85e0	SMART
internal_repeat_1	605	702	2.91e-9	PROSPERO
low complexity region	717	731	N/A	INTRINSIC
low complexity region	757	774	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106039
AA Change: Y367C

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

SMART Domains

Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065
AA Change: Y367C

Domain	Start	End	E-Value	Type
low complexity region	65	79	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	204	219	N/A	INTRINSIC
low complexity region	244	253	N/A	INTRINSIC
ARM	375	415	8.11e-5	SMART
ARM	417	457	3.24e-4	SMART
ARM	514	561	3.85e0	SMART
internal_repeat_1	630	727	4.99e-9	PROSPERO
low complexity region	742	756	N/A	INTRINSIC
low complexity region	782	799	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159253

Predicted Effect

probably benign
Transcript: ENSMUST00000159375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160615

Predicted Effect

probably benign
Transcript: ENSMUST00000160869

SMART Domains

Protein: ENSMUSP00000124013
Gene: ENSMUSG00000054065

Domain	Start	End	E-Value	Type
low complexity region	40	54	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163041

SMART Domains

Protein: ENSMUSP00000124434
Gene: ENSMUSG00000054065

Domain	Start	End	E-Value	Type
low complexity region	61	72	N/A	INTRINSIC
low complexity region	101	116	N/A	INTRINSIC
low complexity region	141	150	N/A	INTRINSIC

Meta Mutation Damage Score

0.8848

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

97% (99/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit retarded hair growth, epidermal thickening and abnormal hair follicles that lead to secondary alopecia and acute dermatitis. [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
Abcb9	T	C	5: 124,218,119 (GRCm39)	M406V	probably benign	Het
Adar	T	C	3: 89,638,121 (GRCm39)	S2P	probably benign	Het
Adgre1	T	A	17: 57,750,939 (GRCm39)	S538T	possibly damaging	Het
Alms1	T	A	6: 85,618,363 (GRCm39)	I2803N	possibly damaging	Het
Amn1	G	T	6: 149,090,091 (GRCm39)		probably benign	Het
Arid1b	G	A	17: 5,393,207 (GRCm39)	A2246T	probably damaging	Het
BC024139	T	C	15: 76,005,947 (GRCm39)	E418G	probably damaging	Het
Bok	A	G	1: 93,614,239 (GRCm39)	D24G	probably damaging	Het
Cabp2	T	C	19: 4,134,913 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,995,582 (GRCm39)		probably benign	Het
Ccdc178	T	C	18: 22,283,492 (GRCm39)	T13A	probably benign	Het
Ccdc42	G	T	11: 68,478,476 (GRCm39)	V33F	possibly damaging	Het
Clcn7	G	A	17: 25,368,176 (GRCm39)		probably benign	Het
Cluh	A	G	11: 74,548,176 (GRCm39)		probably benign	Het
Cr1l	A	T	1: 194,797,164 (GRCm39)		probably benign	Het
Cracdl	A	G	1: 37,663,720 (GRCm39)	V726A	probably benign	Het
Csnk1g3	T	A	18: 54,051,861 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,091,281 (GRCm39)		probably benign	Het
Dgkh	A	C	14: 78,807,569 (GRCm39)	Y1149*	probably null	Het
Dipk2a	G	T	9: 94,406,533 (GRCm39)	D291E	probably benign	Het
Dnai1	A	G	4: 41,635,162 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,196,256 (GRCm39)	V497A	probably benign	Het
Efcab2	A	G	1: 178,302,451 (GRCm39)	E65G	possibly damaging	Het
Eif4a3l1	A	T	6: 136,305,842 (GRCm39)	D101V	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fgfr4	A	G	13: 55,309,198 (GRCm39)		probably benign	Het
Garin5b	A	T	7: 4,773,286 (GRCm39)	L177Q	probably damaging	Het
Gm10720	A	C	9: 3,015,787 (GRCm39)	S44R	probably null	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm6471	A	T	7: 142,385,368 (GRCm39)		noncoding transcript	Het
Hnrnpm	C	T	17: 33,865,489 (GRCm39)	R724Q	probably damaging	Het
Homer1	C	T	13: 93,528,254 (GRCm39)	T117I	possibly damaging	Het
Hoxd4	A	T	2: 74,557,801 (GRCm39)	Q60L	probably damaging	Het
Ift172	T	C	5: 31,417,968 (GRCm39)	R1274G	probably benign	Het
Ino80d	A	G	1: 63,097,477 (GRCm39)	S806P	probably damaging	Het
Itga10	T	C	3: 96,561,016 (GRCm39)	V627A	probably benign	Het
Itgb2l	A	G	16: 96,238,569 (GRCm39)	Y77H	possibly damaging	Het
Kel	A	T	6: 41,678,877 (GRCm39)	H195Q	probably benign	Het
Klhdc7a	A	G	4: 139,694,582 (GRCm39)	S122P	possibly damaging	Het
Krt71	T	A	15: 101,643,141 (GRCm39)	I456F	possibly damaging	Het
Lats1	T	A	10: 7,567,339 (GRCm39)	S37T	probably damaging	Het
Lrp1b	T	A	2: 41,013,031 (GRCm39)	H1858L	possibly damaging	Het
Matk	A	T	10: 81,098,676 (GRCm39)	T461S	probably benign	Het
Meikin	A	G	11: 54,300,468 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,214,029 (GRCm39)	Q2832R	possibly damaging	Het
Myo10	T	C	15: 25,781,324 (GRCm39)	F194L	possibly damaging	Het
Nbas	G	A	12: 13,323,877 (GRCm39)		probably benign	Het
Nme4	A	G	17: 26,312,831 (GRCm39)		probably null	Het
Or13p8	A	T	4: 118,583,530 (GRCm39)	I29F	possibly damaging	Het
Or4c112	T	A	2: 88,853,540 (GRCm39)	N269I	probably benign	Het
Or5w13	A	G	2: 87,523,948 (GRCm39)	S93P	probably benign	Het
Or7g32	T	A	9: 19,408,233 (GRCm39)	L63H	probably damaging	Het
Or8g34	T	C	9: 39,372,967 (GRCm39)	V80A	probably damaging	Het
Pacsin2	T	C	15: 83,261,862 (GRCm39)	Q473R	probably benign	Het
Patz1	A	G	11: 3,243,288 (GRCm39)	H427R	probably damaging	Het
Prdm2	G	A	4: 142,860,338 (GRCm39)	P984L	possibly damaging	Het
Rev3l	T	A	10: 39,750,124 (GRCm39)	C3091*	probably null	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rpl5	T	C	5: 108,052,623 (GRCm39)	F140L	probably benign	Het
Sec24a	A	C	11: 51,591,653 (GRCm39)	I1014M	probably benign	Het
Serpinb11	A	G	1: 107,299,933 (GRCm39)	H93R	probably benign	Het
Shank2	C	A	7: 143,623,872 (GRCm39)	H286N	probably benign	Het
Sipa1l2	G	T	8: 126,148,637 (GRCm39)	Q1651K	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc30a5	A	T	13: 100,963,002 (GRCm39)	F75L	possibly damaging	Het
Slco1a1	G	T	6: 141,856,427 (GRCm39)		probably benign	Het
Smg5	C	T	3: 88,261,179 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Taf8	A	T	17: 47,809,177 (GRCm39)		probably benign	Het
Tars3	A	G	7: 65,333,829 (GRCm39)	D617G	probably damaging	Het
Tbc1d5	A	T	17: 51,291,715 (GRCm39)		probably benign	Het
Tfcp2	C	G	15: 100,412,708 (GRCm39)	E315Q	probably damaging	Het
Tmf1	A	T	6: 97,147,345 (GRCm39)	S540R	probably damaging	Het
Tmprss4	T	C	9: 45,095,634 (GRCm39)	Q70R	probably benign	Het
Trip13	G	T	13: 74,068,183 (GRCm39)	A266E	possibly damaging	Het
Ttc24	T	A	3: 87,982,234 (GRCm39)		probably benign	Het
Ttll5	T	A	12: 85,878,740 (GRCm39)	I49N	probably damaging	Het
Tut7	G	A	13: 59,930,150 (GRCm39)	R962*	probably null	Het
Ube2ql1	A	T	13: 69,886,711 (GRCm39)	M250K	possibly damaging	Het
Vmn1r87	A	T	7: 12,866,211 (GRCm39)	D25E	probably damaging	Het
Vmn2r84	A	G	10: 130,227,877 (GRCm39)	Y120H	probably benign	Het
Wdr6	G	A	9: 108,452,441 (GRCm39)	R481C	probably damaging	Het
Zdhhc17	A	T	10: 110,790,955 (GRCm39)	Y371*	probably null	Het
Zfp292	T	C	4: 34,811,185 (GRCm39)	N620D	probably benign	Het
Zfp932	T	A	5: 110,154,834 (GRCm39)	Y11N	probably benign	Het

Other mutations in Pkp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Pkp3	APN	7	140,664,095 (GRCm39)	nonsense	probably null
IGL01367:Pkp3	APN	7	140,663,989 (GRCm39)	missense	probably damaging	1.00
IGL01793:Pkp3	APN	7	140,668,817 (GRCm39)	missense	probably benign	0.01
IGL02140:Pkp3	APN	7	140,669,249 (GRCm39)	missense	probably damaging	1.00
IGL02231:Pkp3	APN	7	140,664,151 (GRCm39)	missense	probably damaging	1.00
IGL02708:Pkp3	APN	7	140,669,681 (GRCm39)	unclassified	probably benign
IGL02755:Pkp3	APN	7	140,668,318 (GRCm39)	splice site	probably null
IGL03017:Pkp3	APN	7	140,663,283 (GRCm39)	missense	probably benign	0.12
IGL03351:Pkp3	APN	7	140,662,606 (GRCm39)	missense	probably benign
PIT4514001:Pkp3	UTSW	7	140,669,623 (GRCm39)	missense	probably damaging	0.99
R0145:Pkp3	UTSW	7	140,669,676 (GRCm39)	critical splice donor site	probably null
R0184:Pkp3	UTSW	7	140,668,280 (GRCm39)	missense	probably benign	0.41
R1014:Pkp3	UTSW	7	140,662,739 (GRCm39)	missense	probably benign	0.03
R1664:Pkp3	UTSW	7	140,667,560 (GRCm39)	missense	probably damaging	1.00
R1844:Pkp3	UTSW	7	140,668,415 (GRCm39)	missense	probably damaging	1.00
R1891:Pkp3	UTSW	7	140,663,969 (GRCm39)	splice site	probably null
R2100:Pkp3	UTSW	7	140,663,205 (GRCm39)	missense	probably damaging	1.00
R3772:Pkp3	UTSW	7	140,662,259 (GRCm39)	start codon destroyed	probably null
R4003:Pkp3	UTSW	7	140,668,650 (GRCm39)	critical splice acceptor site	probably null
R4089:Pkp3	UTSW	7	140,664,056 (GRCm39)	missense	probably damaging	1.00
R4670:Pkp3	UTSW	7	140,662,612 (GRCm39)	missense	probably benign	0.00
R5266:Pkp3	UTSW	7	140,663,190 (GRCm39)	missense	probably damaging	1.00
R5619:Pkp3	UTSW	7	140,668,419 (GRCm39)	missense	probably damaging	1.00
R6113:Pkp3	UTSW	7	140,662,569 (GRCm39)	missense	probably damaging	0.97
R6820:Pkp3	UTSW	7	140,659,757 (GRCm39)	critical splice donor site	probably null
R7650:Pkp3	UTSW	7	140,662,283 (GRCm39)	missense	probably benign	0.00
R7662:Pkp3	UTSW	7	140,658,292 (GRCm39)	missense	probably benign	0.03
R8087:Pkp3	UTSW	7	140,667,551 (GRCm39)	missense	possibly damaging	0.56
R8335:Pkp3	UTSW	7	140,667,669 (GRCm39)	missense	probably damaging	1.00
R9525:Pkp3	UTSW	7	140,668,310 (GRCm39)	missense	probably damaging	1.00
X0028:Pkp3	UTSW	7	140,669,861 (GRCm39)	splice site	probably null
Z1177:Pkp3	UTSW	7	140,662,648 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTCAGAGCAGCCACCGAAGC -3'
(R):5'- GCCAGCCTAGTGATTAGCAAGCAG -3'

Sequencing Primer
(F):5'- CAGTCTTAGCCTGGCTGAC -3'
(R):5'- CAGGGCTAAGGACCATAGTTCAG -3'

Posted On

2013-04-16