Mutagenetix > Incidental Mutation

Incidental Mutation 'R6232:Pkp1'

504650

Institutional Source

Beutler Lab

Gene Symbol

Pkp1

Ensembl Gene

ENSMUSG00000026413

Gene Name

plakophilin 1

Synonyms

MMRRC Submission

044360-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.618) question?

Stock #

R6232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135799133-135846945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135814599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 241 (I241F)

Ref Sequence

ENSEMBL: ENSMUSP00000128418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027667] [ENSMUST00000163260] [ENSMUST00000189805]

AlphaFold

P97350

Predicted Effect

probably benign
Transcript: ENSMUST00000027667
AA Change: I241F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000027667
Gene: ENSMUSG00000026413
AA Change: I241F

Domain	Start	End	E-Value	Type
low complexity region	52	60	N/A	INTRINSIC
ARM	277	317	2.65e-9	SMART
ARM	319	360	3.47e-4	SMART
ARM	361	416	1.3e1	SMART
ARM	417	464	5.59e1	SMART
ARM	516	557	8.48e1	SMART
ARM	565	604	3.85e0	SMART
ARM	605	650	5.76e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163260
AA Change: I241F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000128418
Gene: ENSMUSG00000026413
AA Change: I241F

Domain	Start	End	E-Value	Type
low complexity region	52	60	N/A	INTRINSIC
ARM	277	317	2.65e-9	SMART
ARM	319	360	3.47e-4	SMART
ARM	361	416	1.3e1	SMART
ARM	417	464	5.59e1	SMART
ARM	516	557	8.48e1	SMART
ARM	565	604	3.85e0	SMART
ARM	605	650	5.76e1	SMART

Predicted Effect

silent
Transcript: ENSMUST00000189805

SMART Domains

Protein: ENSMUSP00000140883
Gene: ENSMUSG00000026413

Domain	Start	End	E-Value	Type
low complexity region	52	60	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

94% (64/68)

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 be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced birth weight, absent whiskers, and neonatal lethality associated with skin fragility, skin lesions, loss of desmosomal adhesion, and impaired skin barrier function due to abnormal tight junction formation. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,268,933 (GRCm39)	V198A	possibly damaging	Het
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adgra2	A	T	8: 27,609,193 (GRCm39)	M805L	probably benign	Het
Arhgap39	T	C	15: 76,620,712 (GRCm39)	S630G	probably damaging	Het
Bcl3	T	A	7: 19,546,409 (GRCm39)	N142I	probably damaging	Het
Cfap210	C	T	2: 69,602,398 (GRCm39)	E338K	possibly damaging	Het
Chuk	A	T	19: 44,085,431 (GRCm39)	D238E	probably benign	Het
Cnga4	T	G	7: 105,056,906 (GRCm39)	Y336*	probably null	Het
Cyp2j8	A	T	4: 96,395,427 (GRCm39)	L66Q	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dst	T	A	1: 34,227,253 (GRCm39)	D1290E	probably damaging	Het
Dysf	T	C	6: 84,075,235 (GRCm39)	I583T	probably benign	Het
Eif1ad13	A	T	12: 87,762,351 (GRCm39)	R24*	probably null	Het
Fbxl2	T	A	9: 113,815,516 (GRCm39)	D249V	probably damaging	Het
Fbxo30	A	T	10: 11,165,602 (GRCm39)	Y108F	possibly damaging	Het
Fibin	G	T	2: 110,193,041 (GRCm39)	H34N	probably damaging	Het
Gabrr1	A	G	4: 33,161,632 (GRCm39)	I319V	probably benign	Het
Gfm1	G	T	3: 67,375,215 (GRCm39)	L559F	possibly damaging	Het
Gm5134	T	A	10: 75,821,859 (GRCm39)	L231Q	possibly damaging	Het
Grm5	A	G	7: 87,251,638 (GRCm39)		probably benign	Het
Hbs1l	T	A	10: 21,183,657 (GRCm39)		probably null	Het
Hsf5	C	G	11: 87,508,120 (GRCm39)	T8S	probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Inpp4b	A	G	8: 82,678,813 (GRCm39)	Q281R	probably damaging	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Ldlrap1	C	T	4: 134,486,345 (GRCm39)	R38Q	possibly damaging	Het
Lepr	A	G	4: 101,671,588 (GRCm39)		probably null	Het
Map3k12	A	G	15: 102,412,081 (GRCm39)	S328P	probably damaging	Het
Mrpl2	T	C	17: 46,958,356 (GRCm39)	V46A	probably benign	Het
Muc16	A	T	9: 18,568,294 (GRCm39)	N1408K	unknown	Het
Myh7	T	A	14: 55,226,753 (GRCm39)	Q366L	probably benign	Het
Nbeal2	A	G	9: 110,467,802 (GRCm39)	V462A	probably damaging	Het
Nradd	G	T	9: 110,450,655 (GRCm39)	T174N	probably damaging	Het
Nup155	T	C	15: 8,138,963 (GRCm39)	S12P	probably benign	Het
Obscn	C	A	11: 58,943,337 (GRCm39)	E4832*	probably null	Het
Opn3	G	A	1: 175,490,669 (GRCm39)	R331W	probably damaging	Het
Or2ag15	A	T	7: 106,340,761 (GRCm39)	C127S	probably damaging	Het
Or2w3	T	A	11: 58,556,757 (GRCm39)	V124E	possibly damaging	Het
Or4a66	G	T	2: 88,531,161 (GRCm39)	H171N	probably benign	Het
Or52ae9	T	A	7: 103,389,661 (GRCm39)	H262L	probably damaging	Het
Or5b120	G	A	19: 13,480,427 (GRCm39)	C240Y	probably damaging	Het
Or6b2	T	C	1: 92,408,305 (GRCm39)	I13V	probably benign	Het
Phip	A	G	9: 82,785,234 (GRCm39)	V827A	probably benign	Het
Phldb1	G	A	9: 44,607,414 (GRCm39)	R1264W	probably damaging	Het
Pibf1	T	G	14: 99,424,014 (GRCm39)	I529S	probably benign	Het
Pla2g4f	G	T	2: 120,132,702 (GRCm39)	D711E	possibly damaging	Het
Pold1	A	G	7: 44,190,266 (GRCm39)		probably null	Het
Pold2	T	C	11: 5,823,691 (GRCm39)	S287G	probably benign	Het
Prg4	T	C	1: 150,331,567 (GRCm39)		probably benign	Het
Prl8a1	T	C	13: 27,759,557 (GRCm39)	E160G	possibly damaging	Het
Rfc4	C	T	16: 22,932,840 (GRCm39)		probably benign	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph14	G	A	10: 74,797,520 (GRCm39)	R156W	probably benign	Het
Sec61a1	T	C	6: 88,482,150 (GRCm39)	Y457C	probably benign	Het
Sec63	T	A	10: 42,704,861 (GRCm39)		probably null	Het
Spen	T	C	4: 141,244,333 (GRCm39)	E234G	unknown	Het
Sphkap	T	A	1: 83,258,200 (GRCm39)	E181V	probably damaging	Het
Stau2	C	T	1: 16,445,035 (GRCm39)	A298T	probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbc1d23	T	C	16: 56,990,796 (GRCm39)	I661V	probably benign	Het
Thoc6	A	C	17: 23,889,295 (GRCm39)		probably null	Het
Trpv1	T	A	11: 73,141,636 (GRCm39)	M553K	possibly damaging	Het
Ttn	T	C	2: 76,641,579 (GRCm39)	I11760V	probably benign	Het
Vmn1r61	G	A	7: 5,613,850 (GRCm39)	H155Y	probably damaging	Het
Vmn2r41	A	G	7: 8,153,214 (GRCm39)		probably null	Het
Vmn2r74	A	G	7: 85,607,498 (GRCm39)	I75T	possibly damaging	Het
Wwp2	C	A	8: 108,232,977 (GRCm39)	T205K	probably benign	Het
Zfp1003	A	T	2: 177,546,195 (GRCm39)	T40S	probably benign	Het
Zfp747	C	T	7: 126,973,306 (GRCm39)	G288D	probably damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		probably null	Het
Zfp953	G	A	13: 67,491,161 (GRCm39)	L264F	possibly damaging	Het

Other mutations in Pkp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Pkp1	APN	1	135,805,922 (GRCm39)	missense	probably damaging	0.96
IGL02113:Pkp1	APN	1	135,811,652 (GRCm39)	missense	possibly damaging	0.92
IGL02149:Pkp1	APN	1	135,814,485 (GRCm39)	missense	probably benign	0.00
IGL02582:Pkp1	APN	1	135,817,664 (GRCm39)	missense	probably damaging	0.99
IGL02655:Pkp1	APN	1	135,817,511 (GRCm39)	missense	probably benign	0.14
IGL03166:Pkp1	APN	1	135,805,862 (GRCm39)	missense	probably damaging	1.00
P0008:Pkp1	UTSW	1	135,803,421 (GRCm39)	missense	probably benign	0.00
R0180:Pkp1	UTSW	1	135,814,538 (GRCm39)	missense	probably benign	0.00
R0368:Pkp1	UTSW	1	135,814,590 (GRCm39)	missense	probably benign	0.00
R0368:Pkp1	UTSW	1	135,803,421 (GRCm39)	missense	probably benign
R0601:Pkp1	UTSW	1	135,805,920 (GRCm39)	missense	probably damaging	1.00
R0725:Pkp1	UTSW	1	135,808,478 (GRCm39)	missense	probably benign	0.02
R1414:Pkp1	UTSW	1	135,811,823 (GRCm39)	splice site	probably benign
R1926:Pkp1	UTSW	1	135,805,411 (GRCm39)	missense	probably benign
R2082:Pkp1	UTSW	1	135,812,714 (GRCm39)	missense	possibly damaging	0.48
R2190:Pkp1	UTSW	1	135,807,709 (GRCm39)	missense	probably benign	0.02
R2249:Pkp1	UTSW	1	135,808,545 (GRCm39)	missense	probably damaging	1.00
R4457:Pkp1	UTSW	1	135,803,362 (GRCm39)	makesense	probably null
R4838:Pkp1	UTSW	1	135,810,326 (GRCm39)	missense	probably damaging	1.00
R4885:Pkp1	UTSW	1	135,846,690 (GRCm39)	missense	possibly damaging	0.92
R4995:Pkp1	UTSW	1	135,808,593 (GRCm39)	missense	possibly damaging	0.91
R5436:Pkp1	UTSW	1	135,846,656 (GRCm39)	missense	probably damaging	1.00
R5440:Pkp1	UTSW	1	135,810,230 (GRCm39)	missense	probably benign	0.41
R5652:Pkp1	UTSW	1	135,810,335 (GRCm39)	critical splice acceptor site	probably null
R5898:Pkp1	UTSW	1	135,810,259 (GRCm39)	missense	probably damaging	1.00
R5908:Pkp1	UTSW	1	135,846,621 (GRCm39)	nonsense	probably null
R6006:Pkp1	UTSW	1	135,805,406 (GRCm39)	splice site	probably null
R6013:Pkp1	UTSW	1	135,811,648 (GRCm39)	missense	probably damaging	1.00
R6218:Pkp1	UTSW	1	135,807,646 (GRCm39)	missense	probably damaging	0.96
R7000:Pkp1	UTSW	1	135,817,692 (GRCm39)	missense	probably benign	0.41
R7799:Pkp1	UTSW	1	135,817,695 (GRCm39)	missense	possibly damaging	0.94
R7883:Pkp1	UTSW	1	135,812,641 (GRCm39)	critical splice donor site	probably null
R8486:Pkp1	UTSW	1	135,846,714 (GRCm39)	missense	probably damaging	1.00
R8822:Pkp1	UTSW	1	135,807,661 (GRCm39)	missense	probably benign	0.00
R8848:Pkp1	UTSW	1	135,807,652 (GRCm39)	missense	probably damaging	1.00
R9099:Pkp1	UTSW	1	135,805,429 (GRCm39)	missense	probably benign
R9498:Pkp1	UTSW	1	135,817,820 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAACTACGCAGTGCTTCCAC -3'
(R):5'- TGTAGGGAGCTGTTCACAAG -3'

Sequencing Primer
(F):5'- CACTCTTCTCCAAAGGTGGG -3'
(R):5'- AGATTTTCTCCAAGACAGCCTG -3'

Posted On

2018-02-28