Mutagenetix > Incidental Mutation

Incidental Mutation 'R8056:Pkp2'

619407

Institutional Source

Beutler Lab

Gene Symbol

Pkp2

Ensembl Gene

ENSMUSG00000041957

Gene Name

plakophilin 2

Synonyms

Pkp2l, 1200008D14Rik, 1200012P04Rik

MMRRC Submission

067493-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16031209-16090576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16031264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 10 (C10R)

Ref Sequence

ENSEMBL: ENSMUSP00000036890 (fasta)

Gene Model

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

AlphaFold

Q9CQ73

Predicted Effect

probably benign
Transcript: ENSMUST00000039408
AA Change: C10R

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957
AA Change: C10R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	C	11: 48,910,909 (GRCm39)	E508G	probably benign	Het
Acsl3	C	T	1: 78,659,611 (GRCm39)	L88F	probably damaging	Het
Adamtsl1	C	T	4: 86,260,269 (GRCm39)	P835S	possibly damaging	Het
Agrn	A	G	4: 156,254,868 (GRCm39)	V1616A	probably benign	Het
Bmerb1	T	A	16: 13,856,180 (GRCm39)		probably benign	Het
Brca2	T	C	5: 150,492,771 (GRCm39)	V3262A	possibly damaging	Het
Bsn	T	C	9: 107,982,506 (GRCm39)	D977G		Het
Cic	G	T	7: 24,990,366 (GRCm39)	A1956S	possibly damaging	Het
Clip4	C	A	17: 72,110,587 (GRCm39)	T189K	probably damaging	Het
Col12a1	T	C	9: 79,507,220 (GRCm39)	E279G		Het
Col24a1	A	C	3: 145,019,925 (GRCm39)	I99L	possibly damaging	Het
Cpne3	A	G	4: 19,532,426 (GRCm39)	V329A	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,030 (GRCm39)	I204V	possibly damaging	Het
Cyp2c66	A	G	19: 39,130,485 (GRCm39)	I107V	probably benign	Het
Dennd4c	A	G	4: 86,763,213 (GRCm39)	R1840G	probably null	Het
Dhx36	A	T	3: 62,396,012 (GRCm39)	L465Q	possibly damaging	Het
Edc4	A	G	8: 106,617,116 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,799,896 (GRCm39)	T2931A	probably damaging	Het
Fam133b	A	T	5: 3,615,744 (GRCm39)	R215S	unknown	Het
Fbh1	G	A	2: 11,748,441 (GRCm39)	T985I	probably benign	Het
Fras1	A	G	5: 96,892,633 (GRCm39)	D2911G	probably damaging	Het
Gm13889	A	T	2: 93,787,020 (GRCm39)	D151E	probably damaging	Het
Gosr2	C	A	11: 103,588,530 (GRCm39)		probably benign	Het
Igkv8-26	T	A	6: 70,170,706 (GRCm39)	L99H	probably damaging	Het
Inhca	A	G	9: 103,143,423 (GRCm39)	C438R	probably damaging	Het
Kif16b	A	G	2: 142,554,762 (GRCm39)	F679L	probably damaging	Het
Kif1a	G	C	1: 92,982,423 (GRCm39)		probably benign	Het
Kif3b	G	C	2: 153,171,979 (GRCm39)	R716S	possibly damaging	Het
Lilra6	A	T	7: 3,915,551 (GRCm39)	C395S	probably damaging	Het
Lrp5	A	G	19: 3,647,337 (GRCm39)	F1302L	probably damaging	Het
Map2	T	G	1: 66,454,779 (GRCm39)	V1223G	probably damaging	Het
Mical1	T	A	10: 41,357,168 (GRCm39)	N324K	probably damaging	Het
Morc3	T	A	16: 93,642,064 (GRCm39)	H94Q	probably benign	Het
Mpped1	T	C	15: 83,720,663 (GRCm39)	V199A	possibly damaging	Het
Msx1	G	A	5: 37,981,544 (GRCm39)	T45I	probably benign	Het
Myh7	G	A	14: 55,210,776 (GRCm39)	Q1714*	probably null	Het
Narf	T	C	11: 121,136,170 (GRCm39)	V182A	possibly damaging	Het
Ncapd2	G	A	6: 125,148,006 (GRCm39)	T1107M	probably damaging	Het
Nek3	A	G	8: 22,619,359 (GRCm39)		probably null	Het
Neurog1	G	T	13: 56,399,223 (GRCm39)	P175T	probably damaging	Het
Nlrp9c	T	C	7: 26,085,112 (GRCm39)	T156A	probably damaging	Het
Or1ad1	T	A	11: 50,876,368 (GRCm39)	V280E	probably damaging	Het
Or2a20	A	T	6: 43,193,978 (GRCm39)	I44F	probably damaging	Het
Or6c3	G	A	10: 129,309,061 (GRCm39)	A167T	probably benign	Het
Orm3	A	G	4: 63,277,594 (GRCm39)	E194G	probably benign	Het
Pga5	A	C	19: 10,654,161 (GRCm39)		probably benign	Het
Pik3r2	G	T	8: 71,225,011 (GRCm39)	P151T	probably benign	Het
Plxdc1	T	A	11: 97,869,343 (GRCm39)	R82W	probably damaging	Het
Polr2c	G	A	8: 95,586,895 (GRCm39)	A54T	probably benign	Het
Rab31	T	C	17: 66,024,503 (GRCm39)	I59V	probably benign	Het
Rasgrf2	T	C	13: 92,167,321 (GRCm39)	M251V	probably damaging	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rfc1	A	C	5: 65,451,436 (GRCm39)		probably benign	Het
Rhag	T	C	17: 41,139,679 (GRCm39)	I137T	probably damaging	Het
Rnf216	T	C	5: 142,978,616 (GRCm39)	M841V	probably benign	Het
Scaf11	C	A	15: 96,312,698 (GRCm39)	E1448*	probably null	Het
Septin11	T	C	5: 93,315,435 (GRCm39)	L388P	unknown	Het
Serpina1b	A	T	12: 103,784,137 (GRCm39)		probably benign	Het
Skint10	A	G	4: 112,573,010 (GRCm39)	I262T	probably benign	Het
Slc13a4	C	T	6: 35,245,887 (GRCm39)	G586E	probably damaging	Het
Slc8a1	C	T	17: 81,955,352 (GRCm39)	G562E	probably damaging	Het
Slc8b1	T	A	5: 120,658,682 (GRCm39)	L126Q	probably damaging	Het
Smg1	A	G	7: 117,759,589 (GRCm39)	Y2086H	unknown	Het
Spmip10	A	G	18: 56,727,763 (GRCm39)	N79S		Het
Taf1c	A	T	8: 120,330,202 (GRCm39)	D47E	probably benign	Het
Tbx5	A	C	5: 119,991,678 (GRCm39)	M250L	probably benign	Het
Tekt3	T	C	11: 62,974,785 (GRCm39)		probably null	Het
Topors	T	C	4: 40,262,221 (GRCm39)	I354M	probably benign	Het
Ttn	C	A	2: 76,778,574 (GRCm39)	G1309V	unknown	Het
Ttyh1	C	T	7: 4,127,622 (GRCm39)		probably benign	Het
Ubac1	A	G	2: 25,897,909 (GRCm39)	I237T	probably benign	Het
Vmn1r197	T	A	13: 22,512,388 (GRCm39)	V103D	probably damaging	Het
Zfp184	T	C	13: 22,143,008 (GRCm39)	F238S	probably damaging	Het
Zfp445	A	G	9: 122,681,032 (GRCm39)	F970L	possibly damaging	Het
Zfp90	A	T	8: 107,151,112 (GRCm39)	E275V	probably damaging	Het
Zscan12	C	G	13: 21,553,492 (GRCm39)	Q439E	probably benign	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
R5162:Pkp2	UTSW	16	16,078,200 (GRCm39)	missense	probably damaging	1.00
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
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'- TCACAGCAGAAGTTCCCAGC -3'
(R):5'- AAGGGTGAAACCGATCGAATTC -3'

Sequencing Primer
(F):5'- AGAAGTTCCCAGCTGCACCTG -3'
(R):5'- AGCGTGTCCAAAGCGAC -3'

Posted On

2020-01-23