Mutagenetix > Incidental Mutation

Incidental Mutation 'R5162:Pkp2'

397075

Institutional Source

Beutler Lab

Gene Symbol

Pkp2

Ensembl Gene

ENSMUSG00000041957

Gene Name

plakophilin 2

Synonyms

Pkp2l, 1200008D14Rik, 1200012P04Rik

MMRRC Submission

042744-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16031209-16090576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16078200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 481 (S481P)

Ref Sequence

ENSEMBL: ENSMUSP00000036890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039408]

AlphaFold

Q9CQ73

Predicted Effect

probably damaging
Transcript: ENSMUST00000039408
AA Change: S481P

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

SMART Domains

Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957
AA Change: S481P

Domain	Start	End	E-Value	Type
low complexity region	258	271	N/A	INTRINSIC
ARM	342	382	7.5e-9	SMART
ARM	384	425	5.14e-7	SMART
Blast:ARM	426	481	2e-29	BLAST
ARM	484	530	8.76e-1	SMART
ARM	631	672	2.98e-3	SMART
Blast:ARM	677	718	2e-11	BLAST
Blast:ARM	720	763	5e-17	BLAST

Meta Mutation Damage Score

0.6235

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (61/62)

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 gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(4)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,301 (GRCm39)	T229S	probably benign	Het
Adrb3	T	C	8: 27,717,348 (GRCm39)	E367G	probably benign	Het
Ak9	T	A	10: 41,233,653 (GRCm39)	N630K	probably damaging	Het
Atp8b1	T	C	18: 64,694,733 (GRCm39)	I516M	possibly damaging	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Cry1	T	A	10: 84,969,150 (GRCm39)	H558L	probably benign	Het
Cstdc3	A	T	16: 36,132,918 (GRCm39)	H65L	probably damaging	Het
Cyp3a57	T	A	5: 145,305,893 (GRCm39)	W126R	probably damaging	Het
Dhx36	A	T	3: 62,401,201 (GRCm39)	V355E	probably damaging	Het
Dpp6	A	G	5: 27,604,013 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	T	C	15: 54,710,692 (GRCm39)	D694G	probably benign	Het
Esrp2	T	C	8: 106,859,930 (GRCm39)	E336G	probably damaging	Het
Faah	A	T	4: 115,857,938 (GRCm39)		probably benign	Het
Fat1	G	A	8: 45,478,846 (GRCm39)	G2608R	probably benign	Het
Fbxo8	A	T	8: 57,022,354 (GRCm39)	Y122F	probably damaging	Het
Fgd5	A	G	6: 92,051,215 (GRCm39)	D1497G	probably damaging	Het
Fn3krp	T	C	11: 121,320,410 (GRCm39)	F252L	probably damaging	Het
Fnip2	T	C	3: 79,389,084 (GRCm39)	Y549C	probably damaging	Het
Gcm2	T	C	13: 41,257,131 (GRCm39)	N206S	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
H2-T10	T	A	17: 36,429,843 (GRCm39)		probably null	Het
Henmt1	T	C	3: 108,847,366 (GRCm39)		probably null	Het
Man1b1	T	A	2: 25,233,365 (GRCm39)	L246Q	probably damaging	Het
Mdh2	T	C	5: 135,812,329 (GRCm39)		probably null	Het
Mocos	T	C	18: 24,787,109 (GRCm39)	F43L	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Naip5	T	A	13: 100,359,914 (GRCm39)	I441F	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nars2	T	C	7: 96,709,027 (GRCm39)		probably benign	Het
Ncoa2	A	T	1: 13,245,396 (GRCm39)	M434K	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,394 (GRCm38)		noncoding transcript	Het
Or14j8	T	A	17: 38,263,255 (GRCm39)	Q220L	probably benign	Het
Or9a2	G	T	6: 41,748,706 (GRCm39)	H176N	possibly damaging	Het
Pals2	T	A	6: 50,155,495 (GRCm39)	W259R	probably damaging	Het
Pars2	A	G	4: 106,511,735 (GRCm39)	T506A	probably benign	Het
Plod3	T	C	5: 137,020,161 (GRCm39)	W459R	probably damaging	Het
Pramel13	A	T	4: 144,121,482 (GRCm39)	L181M	probably damaging	Het
Prdm10	A	T	9: 31,251,714 (GRCm39)	I361F	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Raver2	T	C	4: 100,959,921 (GRCm39)	C134R	probably damaging	Het
Rnf130	G	C	11: 49,943,722 (GRCm39)	A123P	probably damaging	Het
Slc29a4	G	A	5: 142,707,207 (GRCm39)	A517T	possibly damaging	Het
Slc38a6	T	A	12: 73,376,759 (GRCm39)	S138T	possibly damaging	Het
Spred1	T	C	2: 117,008,102 (GRCm39)	V336A	possibly damaging	Het
Sptlc3	T	A	2: 139,473,263 (GRCm39)	M504K	probably benign	Het
Syt11	T	C	3: 88,655,149 (GRCm39)	D78G	probably damaging	Het
Trim23	C	T	13: 104,317,682 (GRCm39)	T61I	probably damaging	Het
Tsg101	T	C	7: 46,542,174 (GRCm39)	T260A	probably damaging	Het
Tyw5	T	C	1: 57,440,618 (GRCm39)	Y48C	probably damaging	Het
Utp25	G	T	1: 192,796,089 (GRCm39)	T192K	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Vmn2r89	C	A	14: 51,693,620 (GRCm39)	H323Q	possibly damaging	Het
Vps18	A	G	2: 119,123,423 (GRCm39)	S117G	probably benign	Het
Zfp93	C	G	7: 23,975,757 (GRCm39)	Q581E	probably damaging	Het

Other mutations in Pkp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P0014:Pkp2	UTSW	16	16,058,386 (GRCm39)	missense	probably benign	0.08
R0131:Pkp2	UTSW	16	16,058,577 (GRCm39)	splice site	probably benign
R0581:Pkp2	UTSW	16	16,087,647 (GRCm39)	splice site	probably benign
R0722:Pkp2	UTSW	16	16,064,892 (GRCm39)	missense	probably benign
R0882:Pkp2	UTSW	16	16,087,575 (GRCm39)	missense	probably damaging	1.00
R0942:Pkp2	UTSW	16	16,043,894 (GRCm39)	missense	probably benign
R1236:Pkp2	UTSW	16	16,043,766 (GRCm39)	missense	probably benign
R1265:Pkp2	UTSW	16	16,043,168 (GRCm39)	missense	probably benign	0.00
R1674:Pkp2	UTSW	16	16,058,422 (GRCm39)	missense	possibly damaging	0.50
R1687:Pkp2	UTSW	16	16,086,573 (GRCm39)	critical splice donor site	probably null
R1769:Pkp2	UTSW	16	16,080,561 (GRCm39)	missense	probably damaging	1.00
R2094:Pkp2	UTSW	16	16,064,831 (GRCm39)	missense	probably damaging	1.00
R4360:Pkp2	UTSW	16	16,086,546 (GRCm39)	missense	probably benign	0.03
R4739:Pkp2	UTSW	16	16,048,588 (GRCm39)	missense	probably damaging	0.99
R5607:Pkp2	UTSW	16	16,078,239 (GRCm39)	missense	probably damaging	0.98
R6334:Pkp2	UTSW	16	16,043,933 (GRCm39)	missense	probably damaging	0.99
R6918:Pkp2	UTSW	16	16,090,082 (GRCm39)	missense	probably damaging	1.00
R7274:Pkp2	UTSW	16	16,064,793 (GRCm39)	missense	possibly damaging	0.92
R7408:Pkp2	UTSW	16	16,079,537 (GRCm39)	missense	possibly damaging	0.50
R7698:Pkp2	UTSW	16	16,058,523 (GRCm39)	missense	probably benign	0.01
R7788:Pkp2	UTSW	16	16,043,272 (GRCm39)	missense	probably benign	0.01
R8030:Pkp2	UTSW	16	16,064,774 (GRCm39)	missense	probably benign
R8056:Pkp2	UTSW	16	16,031,264 (GRCm39)	missense	probably benign	0.28
R8161:Pkp2	UTSW	16	16,031,313 (GRCm39)	missense	probably damaging	0.99
R8253:Pkp2	UTSW	16	16,086,406 (GRCm39)	missense	probably damaging	1.00
R8681:Pkp2	UTSW	16	16,048,545 (GRCm39)	missense	probably benign
R9259:Pkp2	UTSW	16	16,043,714 (GRCm39)	missense	probably damaging	1.00
R9570:Pkp2	UTSW	16	16,078,278 (GRCm39)	missense	possibly damaging	0.71
R9720:Pkp2	UTSW	16	16,087,584 (GRCm39)	missense	probably benign	0.18
Z1176:Pkp2	UTSW	16	16,048,564 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGATGTCTCCCTGGACTGATG -3'
(R):5'- TGGCTTTAGCAAGTAAGTCAAGG -3'

Sequencing Primer
(F):5'- CCTGGACTGATGATAAGCTCTGAC -3'
(R):5'- GCAAGTAAGTCAAGGAACAAAACTAC -3'

Posted On

2016-06-21