Mutagenetix > Incidental Mutation

Incidental Mutation 'R8848:Pkp1'

674799

Institutional Source

Beutler Lab

Gene Symbol

Pkp1

Ensembl Gene

ENSMUSG00000026413

Gene Name

plakophilin 1

Synonyms

MMRRC Submission

068671-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.640) question?

Stock #

R8848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135799133-135846945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135807652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 539 (S539G)

Ref Sequence

ENSEMBL: ENSMUSP00000027667 (fasta)

Gene Model

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

AlphaFold

P97350

Predicted Effect

probably damaging
Transcript: ENSMUST00000027667
AA Change: S539G

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

SMART Domains

Protein: ENSMUSP00000027667
Gene: ENSMUSG00000026413
AA Change: S539G

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 damaging
Transcript: ENSMUST00000163260
AA Change: S539G

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

SMART Domains

Protein: ENSMUSP00000128418
Gene: ENSMUSG00000026413
AA Change: S539G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,778,106 (GRCm39)	D46G	probably benign	Het
Abcc8	A	T	7: 45,766,769 (GRCm39)	W1004R	possibly damaging	Het
Acbd3	T	A	1: 180,562,084 (GRCm39)		probably null	Het
Adh1	G	T	3: 137,986,262 (GRCm39)	C83F	probably benign	Het
Arhgef18	T	C	8: 3,477,481 (GRCm39)	V20A	probably benign	Het
Bmal1	T	C	7: 112,905,327 (GRCm39)	I506T	possibly damaging	Het
Brf2	T	C	8: 27,616,140 (GRCm39)	I82V	probably benign	Het
C7	A	G	15: 5,088,911 (GRCm39)	V10A	probably damaging	Het
Cacna1d	C	T	14: 29,845,283 (GRCm39)	V651M	possibly damaging	Het
Cacna2d2	T	C	9: 107,391,855 (GRCm39)	I458T	possibly damaging	Het
Cadps2	C	A	6: 23,344,256 (GRCm39)	W897L	probably damaging	Het
Cdhr1	T	A	14: 36,802,531 (GRCm39)	N644I	probably benign	Het
Cox7c	A	T	13: 86,193,900 (GRCm39)	I55K	possibly damaging	Het
Cox8c	T	A	12: 102,865,577 (GRCm39)		probably benign	Het
Cyp2c40	G	A	19: 39,801,244 (GRCm39)	R4C	unknown	Het
Ehd3	A	T	17: 74,136,911 (GRCm39)		probably null	Het
Eif2b4	A	T	5: 31,348,210 (GRCm39)	C227S	probably damaging	Het
Erlec1	T	C	11: 30,898,411 (GRCm39)	Y213C	probably damaging	Het
F11	G	T	8: 45,695,281 (GRCm39)	Y562*	probably null	Het
Fam186a	A	G	15: 99,838,034 (GRCm39)	S2737P	possibly damaging	Het
Fat3	T	C	9: 15,878,398 (GRCm39)	E3361G	probably damaging	Het
Fbxl7	T	A	15: 26,552,902 (GRCm39)	M122L	probably benign	Het
Fras1	T	A	5: 96,929,207 (GRCm39)	N3870K	probably damaging	Het
Gm12185	T	A	11: 48,806,280 (GRCm39)	T304S	possibly damaging	Het
Grin3b	A	T	10: 79,809,667 (GRCm39)	D391V	probably benign	Het
Hao2	T	A	3: 98,784,528 (GRCm39)	D279V	probably damaging	Het
Il4i1	C	A	7: 44,489,175 (GRCm39)	D313E	probably damaging	Het
Kcnk7	T	A	19: 5,756,743 (GRCm39)	L244Q	probably damaging	Het
Lingo4	A	T	3: 94,310,840 (GRCm39)	M593L	probably benign	Het
Lix1	G	A	17: 17,663,955 (GRCm39)	A98T	probably damaging	Het
Lpo	T	A	11: 87,708,603 (GRCm39)	I132L	probably benign	Het
Mymx	A	T	17: 45,912,935 (GRCm39)		probably null	Het
Nms	T	C	1: 38,978,391 (GRCm39)	S9P	probably benign	Het
Nom1	A	G	5: 29,645,137 (GRCm39)	D535G	probably damaging	Het
Or2t43	T	A	11: 58,457,902 (GRCm39)	I90F	probably damaging	Het
Or5p81	T	A	7: 108,266,929 (GRCm39)	I102N	probably benign	Het
Or8k25	T	C	2: 86,243,821 (GRCm39)	T192A	probably benign	Het
Pgbd1	A	G	13: 21,607,052 (GRCm39)	C381R	probably damaging	Het
Plcd3	C	A	11: 102,971,446 (GRCm39)	R66L	probably benign	Het
Polr3a	A	T	14: 24,500,834 (GRCm39)	L1318Q	probably damaging	Het
Ppara	T	A	15: 85,673,188 (GRCm39)	F126L	possibly damaging	Het
Rab11a	T	C	9: 64,624,264 (GRCm39)	Y173C	probably damaging	Het
Rev3l	T	A	10: 39,722,705 (GRCm39)	M2566K	probably damaging	Het
Rwdd1	A	G	10: 33,884,987 (GRCm39)		probably null	Het
Scn7a	G	A	2: 66,530,393 (GRCm39)	R651*	probably null	Het
Slc15a4	T	G	5: 127,679,021 (GRCm39)	I440L	probably benign	Het
Slc28a2	A	G	2: 122,290,902 (GRCm39)	T623A	probably benign	Het
Snd1	T	A	6: 28,874,962 (GRCm39)	S628T	possibly damaging	Het
Speg	T	C	1: 75,404,082 (GRCm39)		probably null	Het
Spta1	G	A	1: 174,025,310 (GRCm39)	R725K	probably benign	Het
Stag3	A	G	5: 138,288,528 (GRCm39)	E185G	probably null	Het
Svop	G	T	5: 114,183,687 (GRCm39)	T195K		Het
Tbc1d5	A	T	17: 51,226,082 (GRCm39)	F254I	probably damaging	Het
Ulk3	T	C	9: 57,496,890 (GRCm39)	L8P	probably benign	Het
Unc13c	T	C	9: 73,433,263 (GRCm39)	I1973V	probably benign	Het
Upb1	T	A	10: 75,264,178 (GRCm39)		probably null	Het
Usp53	C	T	3: 122,742,825 (GRCm39)	G704S	probably benign	Het
Usp53	T	C	3: 122,743,235 (GRCm39)	D567G	probably benign	Het
Vmn1r72	T	A	7: 11,404,269 (GRCm39)	I60F	probably damaging	Het
Vmn2r34	C	T	7: 7,675,307 (GRCm39)	V694I	probably benign	Het
Vmn2r60	T	C	7: 41,786,169 (GRCm39)	F324S	probably damaging	Het
Vps37d	A	G	5: 135,102,519 (GRCm39)	S238P	probably damaging	Het
Zfp407	T	A	18: 84,578,819 (GRCm39)	I765F	probably damaging	Het
Zfp455	A	G	13: 67,356,089 (GRCm39)	I387M	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
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
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'- ATTACTGCTCTGGTGATCAGC -3'
(R):5'- ACAACCTGAGATTGGGGCAG -3'

Sequencing Primer
(F):5'- TGCTCACACCTGTAGCTCGAAG -3'
(R):5'- CTGAGATTGGGGCAGAGGCAG -3'

Posted On

2021-07-15