Mutagenetix > Incidental Mutation

Incidental Mutation 'R0145:Pkp3'

22569

Institutional Source

Beutler Lab

Gene Symbol

Pkp3

Ensembl Gene

ENSMUSG00000054065

Gene Name

plakophilin 3

Synonyms

2310056L12Rik

MMRRC Submission

038430-MU

Accession Numbers

Essential gene?

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

Stock #

R0145 (G1) of strain 722

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

140658202-140670424 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 140669676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066873] [ENSMUST00000097958] [ENSMUST00000106039] [ENSMUST00000210167] [ENSMUST00000209199] [ENSMUST00000209294] [ENSMUST00000209352]

AlphaFold

Q9QY23

Predicted Effect

probably null
Transcript: ENSMUST00000066873

SMART Domains

Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065

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 null
Transcript: ENSMUST00000106039

SMART Domains

Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065

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: ENSMUST00000209887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210941

Predicted Effect

probably benign
Transcript: ENSMUST00000210167

Predicted Effect

probably benign
Transcript: ENSMUST00000209199

Predicted Effect

probably benign
Transcript: ENSMUST00000209294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210978

Predicted Effect

probably benign
Transcript: ENSMUST00000209352

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 93.7%
20x: 82.1%

Validation Efficiency

96% (109/113)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,437,783 (GRCm39)	E64G	probably damaging	Het
Actr6	A	T	10: 89,564,040 (GRCm39)	Y77*	probably null	Het
Aldoart1	A	T	4: 72,769,576 (GRCm39)	S411T	probably benign	Het
Aqp1	C	T	6: 55,323,672 (GRCm39)	R234C	probably damaging	Het
Arsb	G	A	13: 93,998,795 (GRCm39)	G368R	possibly damaging	Het
Asxl3	G	A	18: 22,586,662 (GRCm39)	A151T	probably damaging	Het
Bcas3	T	C	11: 85,250,436 (GRCm39)		probably benign	Het
Bmpr2	AACACA	AACA	1: 59,906,739 (GRCm39)		probably null	Het
Bst1	A	G	5: 43,976,414 (GRCm39)	Y49C	probably damaging	Het
Btrc	T	A	19: 45,411,612 (GRCm39)	L12Q	probably damaging	Het
Cd248	T	C	19: 5,119,051 (GRCm39)	F300L	possibly damaging	Het
Cdk11b	G	T	4: 155,726,076 (GRCm39)		probably benign	Het
Cfap410	T	C	10: 77,819,390 (GRCm39)	S196P	probably benign	Het
Cfap44	A	T	16: 44,288,735 (GRCm39)	D1495V	probably damaging	Het
Chil3	T	A	3: 106,067,794 (GRCm39)	I124F	probably damaging	Het
Cnot2	A	T	10: 116,353,273 (GRCm39)	S63T	possibly damaging	Het
Cox8a	G	T	19: 7,192,783 (GRCm39)	H61N	probably benign	Het
Cpne9	T	C	6: 113,277,562 (GRCm39)	V427A	probably damaging	Het
Ctsll3	C	A	13: 60,946,409 (GRCm39)	G301C	probably damaging	Het
Cubn	T	A	2: 13,311,243 (GRCm39)	D3094V	probably damaging	Het
Cyba	A	T	8: 123,153,977 (GRCm39)	M65K	possibly damaging	Het
Cyp4f39	T	A	17: 32,705,934 (GRCm39)	S342T	possibly damaging	Het
Daam2	T	C	17: 49,787,806 (GRCm39)	I436V	probably benign	Het
Daglb	T	C	5: 143,460,363 (GRCm39)		probably benign	Het
Dnah7b	T	G	1: 46,262,338 (GRCm39)	L2067R	probably damaging	Het
Ep300	T	C	15: 81,500,328 (GRCm39)		probably null	Het
Esm1	A	G	13: 113,353,230 (GRCm39)	N171D	probably damaging	Het
Fbxl2	T	C	9: 113,814,393 (GRCm39)	E266G	probably damaging	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
H2-Q2	A	G	17: 35,564,152 (GRCm39)	D302G	probably benign	Het
Hacd3	A	T	9: 64,911,524 (GRCm39)		probably benign	Het
Kbtbd6	T	A	14: 79,690,464 (GRCm39)	N386K	probably benign	Het
Lct	T	C	1: 128,255,632 (GRCm39)	M137V	probably benign	Het
Lilrb4b	T	G	10: 51,360,614 (GRCm39)	N176K	probably benign	Het
Macf1	T	A	4: 123,281,190 (GRCm39)	H4340L	probably damaging	Het
Mcidas	A	G	13: 113,130,906 (GRCm39)	D77G	probably damaging	Het
Mmrn1	C	A	6: 60,949,994 (GRCm39)	Q315K	probably damaging	Het
Mon2	C	A	10: 122,849,417 (GRCm39)	L1294F	possibly damaging	Het
Muc5ac	A	G	7: 141,349,012 (GRCm39)	T483A	possibly damaging	Het
Nacc1	T	C	8: 85,401,504 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ngef	A	G	1: 87,468,370 (GRCm39)		probably benign	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Ogfod3	A	T	11: 121,085,896 (GRCm39)		probably benign	Het
Or6c8	A	T	10: 128,915,232 (GRCm39)	V200E	probably damaging	Het
Or8i2	A	C	2: 86,852,134 (GRCm39)	Y251*	probably null	Het
Parpbp	T	C	10: 87,928,871 (GRCm39)	Y523C	possibly damaging	Het
Pik3cg	C	A	12: 32,254,321 (GRCm39)	L555F	probably benign	Het
Pole	G	T	5: 110,472,291 (GRCm39)	R1518L	probably damaging	Het
Prkab1	T	C	5: 116,156,144 (GRCm39)		probably benign	Het
Prrc2a	T	C	17: 35,374,796 (GRCm39)	T1285A	probably benign	Het
Pus1	C	A	5: 110,922,720 (GRCm39)	V222L	probably benign	Het
Rab11fip1	A	G	8: 27,633,352 (GRCm39)	L1118P	probably damaging	Het
Ranbp2	T	A	10: 58,315,868 (GRCm39)	I2196N	probably damaging	Het
Rims3	T	C	4: 120,744,223 (GRCm39)	L151P	probably damaging	Het
Rnf130	A	G	11: 49,962,046 (GRCm39)	D164G	possibly damaging	Het
Rps6ka2	C	A	17: 7,529,585 (GRCm39)	L293I	probably benign	Het
Ruvbl1	A	G	6: 88,461,441 (GRCm39)	T269A	possibly damaging	Het
Sema4a	A	T	3: 88,358,729 (GRCm39)	I10N	probably damaging	Het
Serpinb6e	A	T	13: 34,025,043 (GRCm39)	S83T	probably benign	Het
Slc12a9	C	A	5: 137,313,550 (GRCm39)	W803L	probably damaging	Het
Slc3a2	A	G	19: 8,685,437 (GRCm39)	S188P	probably damaging	Het
Slc7a13	G	A	4: 19,818,782 (GRCm39)		probably benign	Het
Spart	A	T	3: 55,035,092 (GRCm39)	K493*	probably null	Het
Spata31e2	A	G	1: 26,726,413 (GRCm39)	M32T	probably benign	Het
Sun1	T	C	5: 139,227,166 (GRCm39)	V574A	probably damaging	Het
Supt6	A	G	11: 78,099,062 (GRCm39)	V1603A	probably benign	Het
Tgm5	A	G	2: 120,908,062 (GRCm39)	V38A	possibly damaging	Het
Tm6sf2	T	C	8: 70,530,518 (GRCm39)		probably benign	Het
Tnfaip2	T	A	12: 111,412,292 (GRCm39)	V231E	possibly damaging	Het
Tube1	T	A	10: 39,021,598 (GRCm39)	M281K	possibly damaging	Het
Tubgcp3	A	G	8: 12,707,561 (GRCm39)	Y143H	probably benign	Het
Tyrp1	A	G	4: 80,759,015 (GRCm39)	Y296C	probably damaging	Het
Utp4	A	G	8: 107,621,301 (GRCm39)	N26S	probably benign	Het
Vgf	T	A	5: 137,060,336 (GRCm39)		probably benign	Het
Zfat	T	C	15: 68,058,948 (GRCm39)	K196E	possibly damaging	Het
Zfp366	G	T	13: 99,366,048 (GRCm39)	S403I	probably damaging	Het
Zfp462	G	A	4: 55,010,529 (GRCm39)	G832R	probably damaging	Het
Zfp955a	T	A	17: 33,461,430 (GRCm39)	Q234L	probably damaging	Het
Zup1	T	C	10: 33,819,709 (GRCm39)	T202A	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
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
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'- GTAGTGAGCCACCTGATTGAGAAGC -3'
(R):5'- GCATCTTGTATCGAGCCTCATGCC -3'

Sequencing Primer
(F):5'- AAGCTTCCTGGTAGTGTGGG -3'
(R):5'- TGGCTGGGCTCTGTAAAACATAC -3'

Posted On

2013-04-16