Mutagenetix > Incidental Mutation

Incidental Mutation 'R1664:Pkp3'

187021

Institutional Source

Beutler Lab

Gene Symbol

Pkp3

Ensembl Gene

ENSMUSG00000054065

Gene Name

plakophilin 3

Synonyms

2310056L12Rik

MMRRC Submission

039700-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R1664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140658202-140670424 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140667560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 454 (N454D)

Ref Sequence

ENSEMBL: ENSMUSP00000101654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066873] [ENSMUST00000097958] [ENSMUST00000106039] [ENSMUST00000160869] [ENSMUST00000209294] [ENSMUST00000210167] [ENSMUST00000163041]

AlphaFold

Q9QY23

Predicted Effect

probably damaging
Transcript: ENSMUST00000066873
AA Change: N429D

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

SMART Domains

Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065
AA Change: N429D

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 benign
Transcript: ENSMUST00000097958

SMART Domains

Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494

Domain	Start	End	E-Value	Type
IG	17	112	5.21e-2	SMART
transmembrane domain	117	139	N/A	INTRINSIC
Pfam:TIR	163	327	2.2e-19	PFAM
Pfam:TIR_2	166	308	2.1e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106039
AA Change: N454D

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

SMART Domains

Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065
AA Change: N454D

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

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

noncoding transcript
Transcript: ENSMUST00000210978

Predicted Effect

probably benign
Transcript: ENSMUST00000209294

Predicted Effect

probably benign
Transcript: ENSMUST00000210167

Predicted Effect

probably benign
Transcript: ENSMUST00000209887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161142

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	A	14: 35,533,772 (GRCm39)	T45S	probably benign	Het
Ackr1	A	G	1: 173,160,433 (GRCm39)	F29L	probably benign	Het
Adgrf2	T	A	17: 43,025,305 (GRCm39)	S60C	possibly damaging	Het
Alpk2	A	G	18: 65,482,944 (GRCm39)	C355R	probably damaging	Het
Ankmy1	A	C	1: 92,812,913 (GRCm39)	D465E	probably benign	Het
Ankrd27	T	A	7: 35,306,551 (GRCm39)	D310E	probably damaging	Het
Ap3d1	G	A	10: 80,553,571 (GRCm39)	Q559*	probably null	Het
C4b	T	C	17: 34,951,952 (GRCm39)	T1298A	probably damaging	Het
Casr	T	A	16: 36,330,327 (GRCm39)	K336*	probably null	Het
Ccdc116	A	T	16: 16,960,492 (GRCm39)	D108E	probably benign	Het
Ccdc168	T	A	1: 44,098,387 (GRCm39)	I904F	possibly damaging	Het
Ccr7	A	T	11: 99,036,517 (GRCm39)	I135N	possibly damaging	Het
Cd96	A	G	16: 45,938,364 (GRCm39)	Y34H	possibly damaging	Het
Cdan1	T	A	2: 120,550,987 (GRCm39)	D1135V	probably damaging	Het
Cecr2	C	A	6: 120,738,987 (GRCm39)	T1210K	probably damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Chd9	T	G	8: 91,749,418 (GRCm39)		probably null	Het
Cntnap5c	G	T	17: 58,600,985 (GRCm39)	W776L	probably benign	Het
Col24a1	G	A	3: 145,095,355 (GRCm39)		probably null	Het
Cpa2	G	T	6: 30,554,314 (GRCm39)	M311I	probably damaging	Het
Cpz	A	G	5: 35,664,087 (GRCm39)	F483L	probably damaging	Het
Ddx19a	A	C	8: 111,716,130 (GRCm39)	V90G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw7	A	G	3: 84,876,478 (GRCm39)	D213G	possibly damaging	Het
Fgd2	T	C	17: 29,588,273 (GRCm39)	F362L	probably damaging	Het
Fryl	A	G	5: 73,216,778 (GRCm39)	Y2171H	probably damaging	Het
Gba2	T	C	4: 43,578,080 (GRCm39)	R90G	probably benign	Het
Gm10073	T	C	8: 107,299,864 (GRCm39)	E40G	probably damaging	Het
Grhl3	T	C	4: 135,279,861 (GRCm39)	I398V	probably benign	Het
Grip2	T	A	6: 91,742,233 (GRCm39)	H899L	probably damaging	Het
Grk2	T	C	19: 4,337,268 (GRCm39)	K644E	possibly damaging	Het
Iars1	A	T	13: 49,865,251 (GRCm39)	T576S	probably damaging	Het
Kif26b	G	A	1: 178,759,704 (GRCm39)	V2084M	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc69	G	A	4: 14,775,079 (GRCm39)	T63M	probably damaging	Het
Lrrn4	A	T	2: 132,711,886 (GRCm39)	C646S	probably damaging	Het
Mtf2	C	T	5: 108,252,342 (GRCm39)	T457M	probably damaging	Het
Ncln	A	T	10: 81,323,555 (GRCm39)	C531S	probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or14j8	T	C	17: 38,263,784 (GRCm39)	I44V	probably benign	Het
Or5v1	C	T	17: 37,810,316 (GRCm39)	T258M	possibly damaging	Het
Or8c11	A	T	9: 38,289,548 (GRCm39)	M124L	possibly damaging	Het
Otogl	A	G	10: 107,642,437 (GRCm39)	V1331A	probably benign	Het
Palb2	A	G	7: 121,723,615 (GRCm39)		probably benign	Het
Pcdh20	T	C	14: 88,705,758 (GRCm39)	E514G	possibly damaging	Het
Pclaf	A	G	9: 65,797,730 (GRCm39)	N7S	probably benign	Het
Pdrg1	C	T	2: 152,857,248 (GRCm39)		probably benign	Het
Phf8-ps	T	A	17: 33,285,492 (GRCm39)	I437F	probably damaging	Het
Pik3r6	T	A	11: 68,426,932 (GRCm39)	D464E	probably benign	Het
Plekha7	C	A	7: 115,734,269 (GRCm39)		probably null	Het
Ppip5k1	A	G	2: 121,167,663 (GRCm39)	V784A	probably benign	Het
Ppp1r36	T	A	12: 76,483,028 (GRCm39)	D205E	possibly damaging	Het
Prss35	A	T	9: 86,637,700 (GRCm39)	T157S	probably benign	Het
Ptprn2	T	C	12: 117,125,329 (GRCm39)	L621P	probably damaging	Het
Rasgrp3	A	G	17: 75,831,172 (GRCm39)	K524R	probably damaging	Het
Rasgrp4	T	A	7: 28,839,688 (GRCm39)	H133Q	probably benign	Het
Reln	A	T	5: 22,134,084 (GRCm39)	Y2615N	probably damaging	Het
Rpf1	T	A	3: 146,217,903 (GRCm39)	T204S	probably benign	Het
Scgb2b3	T	A	7: 31,058,464 (GRCm39)	*113L	probably null	Het
Scn5a	A	C	9: 119,350,243 (GRCm39)	L877R	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,256,821 (GRCm39)	D632E	probably benign	Het
Slc39a10	T	C	1: 46,865,269 (GRCm39)	H522R	probably damaging	Het
Spink2	A	T	5: 77,354,855 (GRCm39)	C19S	probably damaging	Het
Spsb4	A	G	9: 96,878,266 (GRCm39)	L19P	possibly damaging	Het
St7l	T	C	3: 104,778,214 (GRCm39)	V117A	probably damaging	Het
Stac2	C	T	11: 97,933,420 (GRCm39)	S174N	probably damaging	Het
Sult4a1	A	G	15: 83,970,818 (GRCm39)	Y196H	probably benign	Het
Tex2	C	T	11: 106,458,608 (GRCm39)		probably benign	Het
Tprg1l	A	T	4: 154,243,862 (GRCm39)	V98D	possibly damaging	Het
Ttn	G	A	2: 76,548,369 (GRCm39)	H31978Y	probably damaging	Het
Ttn	T	C	2: 76,658,853 (GRCm39)		probably benign	Het
Tyk2	C	A	9: 21,031,649 (GRCm39)	R447L	probably damaging	Het
Ucn3	T	C	13: 3,991,634 (GRCm39)	Y6C	possibly damaging	Het
Urb1	A	T	16: 90,584,970 (GRCm39)		probably null	Het
Vmn2r94	G	C	17: 18,464,406 (GRCm39)	A628G	probably damaging	Het
Wdr95	C	A	5: 149,518,752 (GRCm39)	T389K	probably damaging	Het
Wrn	A	T	8: 33,770,794 (GRCm39)		probably null	Het
Xab2	T	A	8: 3,669,068 (GRCm39)		probably null	Het
Zfp458	A	T	13: 67,406,144 (GRCm39)	N95K	possibly damaging	Het
Zfp672	T	C	11: 58,208,138 (GRCm39)	H61R	probably damaging	Het
Zfp942	C	T	17: 22,147,420 (GRCm39)	G403E	possibly damaging	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
R0153:Pkp3	UTSW	7	140,663,256 (GRCm39)	missense	probably damaging	1.00
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
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'- TCTGGAGTAAGACAAGGCTCCAAGG -3'
(R):5'- TAGCACACCTGAGGAAGCCAGTAG -3'

Sequencing Primer
(F):5'- actgttcgctgctcttcc -3'
(R):5'- GTAGCATTGTAGAAGATCTCTGCC -3'

Posted On

2014-05-09