Mutagenetix > Incidental Mutation

Incidental Mutation 'R5898:Pkp1'

457625

Institutional Source

Beutler Lab

Gene Symbol

Pkp1

Ensembl Gene

ENSMUSG00000026413

Gene Name

plakophilin 1

Synonyms

MMRRC Submission

044097-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.640) question?

Stock #

R5898 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

135799133-135846945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135810259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 437 (Y437C)

Ref Sequence

ENSEMBL: ENSMUSP00000128418 (fasta)

Gene Model

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

AlphaFold

P97350

Predicted Effect

probably damaging
Transcript: ENSMUST00000027667
AA Change: Y437C

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

SMART Domains

Protein: ENSMUSP00000027667
Gene: ENSMUSG00000026413
AA Change: Y437C

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

noncoding transcript
Transcript: ENSMUST00000132793

Predicted Effect

probably damaging
Transcript: ENSMUST00000163260
AA Change: Y437C

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

SMART Domains

Protein: ENSMUSP00000128418
Gene: ENSMUSG00000026413
AA Change: Y437C

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: ENSMUST00000189805

SMART Domains

Protein: ENSMUSP00000140883
Gene: ENSMUSG00000026413

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

Meta Mutation Damage Score

0.9021

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (86/90)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	T	10: 100,448,762 (GRCm39)	R158L	possibly damaging	Het
1700017N19Rik	G	A	10: 100,451,070 (GRCm39)	M179I	probably benign	Het
Abhd12	T	C	2: 150,681,698 (GRCm39)	I231V	possibly damaging	Het
Adsl	A	G	15: 80,845,554 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,991,131 (GRCm39)	N4138K	possibly damaging	Het
Ahnak	T	C	19: 8,995,575 (GRCm39)	S5620P	probably damaging	Het
Akap13	C	T	7: 75,378,894 (GRCm39)	T2145I	probably damaging	Het
Alpk2	T	A	18: 65,440,694 (GRCm39)	Q700L	probably damaging	Het
Apobec1	T	C	6: 122,557,732 (GRCm39)	Y159C	probably damaging	Het
Atg9a	T	C	1: 75,162,916 (GRCm39)	T395A	probably damaging	Het
Atp6v1f	A	G	6: 29,467,957 (GRCm39)	I48V	probably benign	Het
BC051665	A	C	13: 60,930,518 (GRCm39)	V278G	probably damaging	Het
Bicd1	A	T	6: 149,415,201 (GRCm39)	H638L	probably damaging	Het
Cacna2d4	A	G	6: 119,251,192 (GRCm39)	Y460C	probably damaging	Het
Ccdc157	C	A	11: 4,094,538 (GRCm39)	R496L	probably benign	Het
Cdcp3	T	G	7: 130,843,696 (GRCm39)		probably null	Het
Cep44	C	G	8: 56,994,056 (GRCm39)	V174L	probably damaging	Het
Clca3a1	G	T	3: 144,722,522 (GRCm39)	F283L	possibly damaging	Het
Csk	T	C	9: 57,537,585 (GRCm39)	T110A	probably benign	Het
Cspg4	T	A	9: 56,792,506 (GRCm39)		probably null	Het
Cutc	A	G	19: 43,748,468 (GRCm39)	I124V	probably benign	Het
Cyp2d9	A	G	15: 82,339,725 (GRCm39)	T104A	probably benign	Het
Cyp2j9	G	T	4: 96,465,951 (GRCm39)	T294K	probably benign	Het
D630003M21Rik	T	A	2: 158,046,577 (GRCm39)		probably null	Het
Dcaf15	G	T	8: 84,825,081 (GRCm39)	F450L	probably damaging	Het
Ddhd1	A	T	14: 45,840,125 (GRCm39)	I723K	probably damaging	Het
Dnah17	C	T	11: 118,005,039 (GRCm39)	A782T	probably benign	Het
Dnah3	T	C	7: 119,677,724 (GRCm39)	D399G	probably benign	Het
Dync2h1	T	C	9: 7,148,717 (GRCm39)	N909S	probably benign	Het
Erbin	A	G	13: 103,975,813 (GRCm39)		probably null	Het
Fanci	G	A	7: 79,083,069 (GRCm39)	V682I	probably benign	Het
Fap	A	T	2: 62,403,847 (GRCm39)	F9L	probably benign	Het
Fat3	T	C	9: 15,849,757 (GRCm39)	I3882V	probably benign	Het
Fkbp15	A	T	4: 62,244,294 (GRCm39)		probably null	Het
Fsd2	T	C	7: 81,186,975 (GRCm39)	Y601C	probably damaging	Het
Gm5900	T	C	7: 104,599,468 (GRCm39)		noncoding transcript	Het
Gramd4	G	T	15: 85,984,985 (GRCm39)	G82V	probably damaging	Het
Hc	C	T	2: 34,887,449 (GRCm39)	V1352I	probably benign	Het
Hsph1	A	T	5: 149,548,623 (GRCm39)	N466K	probably damaging	Het
Ice2	T	A	9: 69,315,544 (GRCm39)	D133E	probably benign	Het
Ifi213	T	C	1: 173,396,545 (GRCm39)	M510V	probably benign	Het
Itpkb	T	G	1: 180,248,880 (GRCm39)	L861R	probably damaging	Het
Kbtbd3	T	A	9: 4,330,476 (GRCm39)	D283E	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Masp1	T	A	16: 23,310,677 (GRCm39)	I252F	probably damaging	Het
Megf11	G	T	9: 64,593,246 (GRCm39)	C586F	probably damaging	Het
Myh2	C	A	11: 67,083,545 (GRCm39)	A1476E	possibly damaging	Het
Myo18b	A	T	5: 112,950,196 (GRCm39)		probably null	Het
Naip6	A	T	13: 100,435,829 (GRCm39)	V898E	possibly damaging	Het
Nav1	T	C	1: 135,512,884 (GRCm39)	M59V	probably benign	Het
Nlrp3	A	T	11: 59,437,678 (GRCm39)	Y119F	probably benign	Het
Oxa1l	T	A	14: 54,600,758 (GRCm39)	I77N	possibly damaging	Het
Pcdhb8	T	A	18: 37,490,537 (GRCm39)	D738E	possibly damaging	Het
Pdia5	A	T	16: 35,243,335 (GRCm39)	W269R	probably damaging	Het
Peak1	T	A	9: 56,114,622 (GRCm39)	T1440S	probably benign	Het
Piezo1	A	G	8: 123,214,682 (GRCm39)	V1547A	probably benign	Het
Pla2r1	T	C	2: 60,253,104 (GRCm39)	D1329G	probably damaging	Het
Ppip5k2	T	C	1: 97,671,887 (GRCm39)		probably benign	Het
Prrg4	C	T	2: 104,675,378 (GRCm39)	S75N	probably benign	Het
Psmb9	T	A	17: 34,401,266 (GRCm39)	I198F	probably damaging	Het
Rcbtb2	T	A	14: 73,399,405 (GRCm39)	L23*	probably null	Het
Sbno1	A	T	5: 124,524,854 (GRCm39)		probably benign	Het
Scn3a	T	C	2: 65,345,039 (GRCm39)	E483G	probably damaging	Het
Sdccag8	T	A	1: 176,652,388 (GRCm39)	D46E	probably benign	Het
Selenov	A	G	7: 27,987,579 (GRCm39)	F293L	probably damaging	Het
Septin2	A	C	1: 93,407,023 (GRCm39)	D20A	probably benign	Het
Shc1	T	A	3: 89,334,274 (GRCm39)	Y313*	probably null	Het
Siglec1	T	A	2: 130,915,553 (GRCm39)	Y1346F	probably damaging	Het
Slc22a5	T	A	11: 53,764,559 (GRCm39)	I296F	probably damaging	Het
Slc9c1	A	G	16: 45,365,123 (GRCm39)	N152S	probably damaging	Het
Smoc1	C	T	12: 81,151,531 (GRCm39)	R83*	probably null	Het
Ssx2ip	A	G	3: 146,133,586 (GRCm39)	D227G	possibly damaging	Het
Tbrg4	T	C	11: 6,567,372 (GRCm39)	D576G	probably damaging	Het
Tbx20	T	A	9: 24,670,155 (GRCm39)	Y226F	probably damaging	Het
Trav10d	G	T	14: 53,048,929 (GRCm39)	A107S	probably damaging	Het
Trim60	A	T	8: 65,453,016 (GRCm39)	L411*	probably null	Het
Ttbk2	A	T	2: 120,575,521 (GRCm39)	V1083D	probably benign	Het
Unc93a	T	A	17: 13,344,464 (GRCm39)	Q26L	probably damaging	Het
Usp14	T	A	18: 10,022,819 (GRCm39)	N65I	possibly damaging	Het
Vip	A	T	10: 5,593,988 (GRCm39)	S114C	probably damaging	Het
Vmn1r237	A	T	17: 21,534,813 (GRCm39)	I179F	probably damaging	Het
Wdr47	T	A	3: 108,545,201 (GRCm39)		probably null	Het
Zfp975	A	T	7: 42,311,963 (GRCm39)	C217S	probably 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
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
R6232:Pkp1	UTSW	1	135,814,599 (GRCm39)	missense	probably benign	0.01
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'- GCACTTGCATGTTTCAGATGTC -3'
(R):5'- TTCACTGTGCATGCCCACTG -3'

Sequencing Primer
(F):5'- AGCTCCTGGGAAGTATAACCCTG -3'
(R):5'- ACTGCACTCTGCCCGTC -3'

Posted On

2017-02-15