Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Pkp3'

285714

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pkp3

Ensembl Gene

ENSMUSG00000054065

Gene Name

plakophilin 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

141078218-141090510 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141084238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 443 (E443K)

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: E418K

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

SMART Domains

Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065
AA Change: E418K

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: E443K

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

SMART Domains

Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065
AA Change: E443K

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

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,279,896	G1647D	probably benign	Het
Alcam	T	A	16: 52,274,050		probably benign	Het
Alox15	A	C	11: 70,349,556	D266E	probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cnot3	A	G	7: 3,658,210	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Edem1	A	G	6: 108,828,888	D50G	probably benign	Het
Emilin3	G	A	2: 160,908,515	T438I	probably damaging	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Ksr2	C	T	5: 117,500,776	R82C	probably damaging	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,773	K73E	possibly damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Plk2	T	A	13: 110,400,069	C632S	probably benign	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rabl6	T	A	2: 25,598,184	K109N	probably benign	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,209,021	S25N	possibly damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Thada	T	A	17: 84,428,697	D970V	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	Het

Other mutations in Pkp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Pkp3	APN	7	141084182	nonsense	probably null
IGL01367:Pkp3	APN	7	141084076	missense	probably damaging	1.00
IGL01793:Pkp3	APN	7	141088904	missense	probably benign	0.01
IGL02140:Pkp3	APN	7	141089336	missense	probably damaging	1.00
IGL02708:Pkp3	APN	7	141089768	unclassified	probably benign
IGL02755:Pkp3	APN	7	141088405	splice site	probably null
IGL03017:Pkp3	APN	7	141083370	missense	probably benign	0.12
IGL03351:Pkp3	APN	7	141082693	missense	probably benign
PIT4514001:Pkp3	UTSW	7	141089710	missense	probably damaging	0.99
R0145:Pkp3	UTSW	7	141089763	critical splice donor site	probably null
R0153:Pkp3	UTSW	7	141083343	missense	probably damaging	1.00
R0184:Pkp3	UTSW	7	141088367	missense	probably benign	0.41
R1014:Pkp3	UTSW	7	141082826	missense	probably benign	0.03
R1664:Pkp3	UTSW	7	141087647	missense	probably damaging	1.00
R1844:Pkp3	UTSW	7	141088502	missense	probably damaging	1.00
R1891:Pkp3	UTSW	7	141084056	splice site	probably null
R2100:Pkp3	UTSW	7	141083292	missense	probably damaging	1.00
R3772:Pkp3	UTSW	7	141082346	start codon destroyed	probably null
R4003:Pkp3	UTSW	7	141088737	critical splice acceptor site	probably null
R4089:Pkp3	UTSW	7	141084143	missense	probably damaging	1.00
R4670:Pkp3	UTSW	7	141082699	missense	probably benign	0.00
R5266:Pkp3	UTSW	7	141083277	missense	probably damaging	1.00
R5619:Pkp3	UTSW	7	141088506	missense	probably damaging	1.00
R6113:Pkp3	UTSW	7	141082656	missense	probably damaging	0.97
R6820:Pkp3	UTSW	7	141079844	critical splice donor site	probably null
R7650:Pkp3	UTSW	7	141082370	missense	probably benign	0.00
R7662:Pkp3	UTSW	7	141078379	missense	probably benign	0.03
R8087:Pkp3	UTSW	7	141087638	missense	possibly damaging	0.56
R8335:Pkp3	UTSW	7	141087756	missense	probably damaging	1.00
R9525:Pkp3	UTSW	7	141088397	missense	probably damaging	1.00
X0028:Pkp3	UTSW	7	141089948	splice site	probably null
Z1177:Pkp3	UTSW	7	141082735	missense	probably damaging	1.00

Posted On

2015-04-16