Mutagenetix > Incidental Mutation

Incidental Mutation 'R5619:Pkp3'

439714

Institutional Source

Beutler Lab

Gene Symbol

Pkp3

Ensembl Gene

ENSMUSG00000054065

Gene Name

plakophilin 3

Synonyms

2310056L12Rik

MMRRC Submission

043278-MU

Accession Numbers

Essential gene?

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

Stock #

R5619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140658202-140670424 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140668419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 556 (L556P)

Ref Sequence

ENSEMBL: ENSMUSP00000101654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066873] [ENSMUST00000097958] [ENSMUST00000106039] [ENSMUST00000209294] [ENSMUST00000209199] [ENSMUST00000210167]

AlphaFold

Q9QY23

Predicted Effect

probably damaging
Transcript: ENSMUST00000066873
AA Change: L531P

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

SMART Domains

Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065
AA Change: L531P

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: L556P

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

SMART Domains

Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065
AA Change: L556P

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

noncoding transcript
Transcript: ENSMUST00000161142

Predicted Effect

probably benign
Transcript: ENSMUST00000209294

Predicted Effect

probably benign
Transcript: ENSMUST00000209199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210978

Predicted Effect

probably benign
Transcript: ENSMUST00000209887

Predicted Effect

probably benign
Transcript: ENSMUST00000210167

Meta Mutation Damage Score

0.7279

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.7%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Adgre1	T	G	17: 57,727,437 (GRCm39)	L456V	probably benign	Het
Adgrv1	C	T	13: 81,620,619 (GRCm39)	G3943R	probably damaging	Het
Akap9	A	G	5: 4,004,760 (GRCm39)		probably benign	Het
Atp1a2	T	A	1: 172,106,948 (GRCm39)	I791F	probably damaging	Het
BC004004	C	G	17: 29,501,703 (GRCm39)	P81A	probably damaging	Het
Brca2	C	A	5: 150,480,579 (GRCm39)	T2755K	probably damaging	Het
Cacna1c	T	C	6: 118,719,322 (GRCm39)	D215G	probably damaging	Het
Ccdc142	C	T	6: 83,080,603 (GRCm39)	S445F	probably benign	Het
Comt	T	C	16: 18,230,469 (GRCm39)	E80G	probably damaging	Het
Coq7	T	C	7: 118,126,709 (GRCm39)		probably benign	Het
Coro7	C	A	16: 4,494,799 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,792,228 (GRCm39)	S239P	probably damaging	Het
Dnah5	T	C	15: 28,302,581 (GRCm39)	S1613P	probably damaging	Het
Dync2h1	T	C	9: 7,118,885 (GRCm39)	I2193M	probably benign	Het
Eipr1	A	G	12: 28,917,078 (GRCm39)	Y382C	probably damaging	Het
Fastkd2	T	A	1: 63,778,469 (GRCm39)	H447Q	probably benign	Het
Galk2	A	T	2: 125,817,317 (GRCm39)	R369*	probably null	Het
Gli2	G	A	1: 118,764,485 (GRCm39)	A1222V	probably benign	Het
Golim4	T	A	3: 75,813,802 (GRCm39)	K141*	probably null	Het
Gtpbp3	G	T	8: 71,943,692 (GRCm39)		probably benign	Het
Gzmd	C	T	14: 56,367,224 (GRCm39)	A223T	probably benign	Het
Igf2r	T	C	17: 12,958,221 (GRCm39)	R151G	probably damaging	Het
Itga8	T	A	2: 12,270,139 (GRCm39)	R116W	probably damaging	Het
Klhdc1	T	G	12: 69,304,919 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,516,602 (GRCm39)	Y198H	probably benign	Het
Klhl29	A	T	12: 5,190,587 (GRCm39)	M136K	probably benign	Het
Lipf	A	T	19: 33,944,292 (GRCm39)	Y167F	possibly damaging	Het
Lpar1	T	C	4: 58,487,155 (GRCm39)	K39E	possibly damaging	Het
Mbtd1	T	A	11: 93,820,705 (GRCm39)		probably null	Het
Myo1a	T	A	10: 127,554,413 (GRCm39)	N794K	probably benign	Het
Nmrk1	T	C	19: 18,622,452 (GRCm39)	L177P	possibly damaging	Het
Noxa1	C	T	2: 24,975,988 (GRCm39)	E401K	probably damaging	Het
Or10g9b	T	A	9: 39,918,039 (GRCm39)	M69L	probably benign	Het
Or4f53	A	T	2: 111,087,856 (GRCm39)	Y132F	probably damaging	Het
Ostm1	T	A	10: 42,555,325 (GRCm39)	C116S	probably damaging	Het
Pcdhga7	T	C	18: 37,848,800 (GRCm39)	I269T	probably benign	Het
Pfkfb3	T	C	2: 11,489,470 (GRCm39)	K276R	probably benign	Het
Pfkp	A	T	13: 6,648,765 (GRCm39)		probably benign	Het
Pitpnm1	A	G	19: 4,153,270 (GRCm39)	D142G	probably damaging	Het
Plb1	C	A	5: 32,490,841 (GRCm39)	T1046N	probably damaging	Het
Plxnb2	T	C	15: 89,047,012 (GRCm39)	S770G	possibly damaging	Het
Polk	A	T	13: 96,620,064 (GRCm39)	I733N	probably damaging	Het
Potegl	T	C	2: 23,147,017 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,136,156 (GRCm39)	C301F	probably damaging	Het
Rabgap1l	T	C	1: 160,066,142 (GRCm39)	T189A	probably benign	Het
Raph1	T	C	1: 60,529,414 (GRCm39)		probably benign	Het
Rbm22	T	A	18: 60,693,899 (GRCm39)	M1K	probably null	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf186	T	A	4: 138,694,715 (GRCm39)	I85N	probably benign	Het
Ryr2	C	A	13: 11,723,088 (GRCm39)	R2517L	probably damaging	Het
Sec63	T	A	10: 42,665,378 (GRCm39)	Y103N	probably damaging	Het
Serpinb3a	G	A	1: 106,974,838 (GRCm39)	P232S	probably damaging	Het
Slco6d1	C	A	1: 98,423,947 (GRCm39)	T533K	probably damaging	Het
Smarcad1	T	A	6: 65,088,865 (GRCm39)	D1000E	probably benign	Het
Spata46	A	T	1: 170,136,490 (GRCm39)	I14F	probably damaging	Het
Speer4b	T	C	5: 27,703,815 (GRCm39)	H106R	possibly damaging	Het
Spint4	T	C	2: 164,542,761 (GRCm39)	L118P	probably benign	Het
Sptbn5	A	G	2: 119,880,613 (GRCm39)		noncoding transcript	Het
Tgfbr3	A	T	5: 107,288,380 (GRCm39)	I427N	probably benign	Het
Thbs2	C	A	17: 14,901,506 (GRCm39)	C491F	probably damaging	Het
Tmem232	T	A	17: 65,793,506 (GRCm39)	E64D	probably benign	Het
Tnpo3	A	T	6: 29,565,197 (GRCm39)	C585*	probably null	Het
Ttc13	A	T	8: 125,406,683 (GRCm39)		probably benign	Het
Tuba8	C	T	6: 121,202,854 (GRCm39)	A389V	probably damaging	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Usp25	A	G	16: 76,830,833 (GRCm39)	I30V	probably benign	Het
Vmn2r31	T	A	7: 7,387,529 (GRCm39)	K681*	probably null	Het
Vmn2r88	A	G	14: 51,651,367 (GRCm39)	E235G	probably damaging	Het
Vps29	T	A	5: 122,492,511 (GRCm39)		probably benign	Het
Wdr1	A	C	5: 38,686,879 (GRCm39)	V568G	possibly damaging	Het
Zfp64	T	G	2: 168,741,734 (GRCm39)	Q398P	probably damaging	Het
Zfp64	G	T	2: 168,741,735 (GRCm39)	Q398K	probably damaging	Het
Zfp839	T	C	12: 110,830,470 (GRCm39)	Y398H	probably 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
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
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'- CTAGTGGATGCTCTGGTCAC -3'
(R):5'- GAGTGCATCAGCTGTGAGAG -3'

Sequencing Primer
(F):5'- GATGCTCTGGTCACCTACATCAAC -3'
(R):5'- AGAGCATCAGTCTGGCACTTC -3'

Posted On

2016-11-08