Mutagenetix > Incidental Mutation

Incidental Mutation 'R9720:Pkp2'

730752

Institutional Source

Beutler Lab

Gene Symbol

Pkp2

Ensembl Gene

ENSMUSG00000041957

Gene Name

plakophilin 2

Synonyms

Pkp2l, 1200008D14Rik, 1200012P04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9720 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16031209-16090576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16087584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 756 (V756A)

Ref Sequence

ENSEMBL: ENSMUSP00000036890 (fasta)

Gene Model

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

AlphaFold

Q9CQ73

Predicted Effect

probably benign
Transcript: ENSMUST00000039408
AA Change: V756A

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957
AA Change: V756A

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: 99.8%
20x: 99.3%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,154,183 (GRCm39)	V968G	probably damaging	Het
Adam33	A	G	2: 130,900,236 (GRCm39)	V110A		Het
Adamts2	T	C	11: 50,666,954 (GRCm39)	M417T	probably damaging	Het
Adgrv1	A	G	13: 81,740,693 (GRCm39)	I145T	probably damaging	Het
Ampd3	C	A	7: 110,377,056 (GRCm39)	H16N	probably benign	Het
Ank3	A	T	10: 69,825,335 (GRCm39)	S1335C		Het
Ankrd26	G	A	6: 118,498,902 (GRCm39)	S1208L	probably damaging	Het
Atmin	G	A	8: 117,681,653 (GRCm39)		probably null	Het
AU018091	T	C	7: 3,209,272 (GRCm39)	T323A	probably benign	Het
Barx2	A	G	9: 31,765,407 (GRCm39)		probably null	Het
Bltp3b	T	A	10: 89,641,219 (GRCm39)	S797T	probably benign	Het
Brpf3	A	G	17: 29,026,330 (GRCm39)	I468V	probably benign	Het
Cacna1g	T	A	11: 94,302,297 (GRCm39)	H1985L	probably benign	Het
Cass4	T	C	2: 172,269,568 (GRCm39)	V550A	probably benign	Het
Ccdc88a	A	G	11: 29,413,813 (GRCm39)	S784G	probably benign	Het
Cd300ld2	C	T	11: 114,903,118 (GRCm39)		probably null	Het
Cgn	G	A	3: 94,686,621 (GRCm39)	A227V	probably benign	Het
Clcn7	G	T	17: 25,374,471 (GRCm39)	R524L	probably damaging	Het
Cldn22	G	A	8: 48,277,786 (GRCm39)	A75T	probably benign	Het
Ddb1	A	G	19: 10,585,724 (GRCm39)	D146G	probably benign	Het
Dhx32	C	A	7: 133,324,857 (GRCm39)	E607*	probably null	Het
Egfem1	A	G	3: 29,716,580 (GRCm39)	Y350C	probably damaging	Het
Eri2	T	A	7: 119,386,976 (GRCm39)	D181V	probably damaging	Het
Gabrg2	T	C	11: 41,862,673 (GRCm39)	N137S	probably damaging	Het
Gar1	C	T	3: 129,620,497 (GRCm39)	G197S	unknown	Het
Ggta1	G	T	2: 35,303,418 (GRCm39)	D91E	probably benign	Het
Hap1	T	A	11: 100,246,696 (GRCm39)	I70F	probably benign	Het
Hars2	A	G	18: 36,920,607 (GRCm39)	Y150C	probably damaging	Het
Igsf9b	G	A	9: 27,220,810 (GRCm39)	V59I	probably damaging	Het
Il15	T	G	8: 83,058,608 (GRCm39)	K142Q	probably damaging	Het
Klhl23	T	C	2: 69,654,804 (GRCm39)	Y225H	possibly damaging	Het
Krt6b	T	A	15: 101,588,226 (GRCm39)	I145F	probably benign	Het
Lgals3bp	T	A	11: 118,284,083 (GRCm39)	T499S	probably benign	Het
Lrriq4	A	G	3: 30,714,077 (GRCm39)	N490S	probably damaging	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Mical3	A	G	6: 120,935,238 (GRCm39)	S1763P	probably damaging	Het
Ncoa6	A	G	2: 155,250,304 (GRCm39)	V1000A	probably damaging	Het
Nefm	A	G	14: 68,358,793 (GRCm39)	S414P	probably benign	Het
Nphs1	T	C	7: 30,165,499 (GRCm39)	V622A	possibly damaging	Het
Or6c76	T	C	10: 129,612,581 (GRCm39)	V281A	probably benign	Het
Or6d14	T	C	6: 116,534,016 (GRCm39)	V210A	possibly damaging	Het
Pde4dip	T	C	3: 97,603,287 (GRCm39)	D2234G	probably damaging	Het
Pde6c	A	T	19: 38,157,887 (GRCm39)	Y637F	probably benign	Het
Pigg	T	A	5: 108,467,800 (GRCm39)	C266*	probably null	Het
Pkdrej	A	T	15: 85,702,497 (GRCm39)	D1146E	possibly damaging	Het
Pole	C	T	5: 110,484,909 (GRCm39)	T2245I	probably benign	Het
Ppm1g	A	C	5: 31,360,914 (GRCm39)		probably null	Het
Ppp1r36	A	G	12: 76,485,298 (GRCm39)	I340M	possibly damaging	Het
Pvr	G	A	7: 19,643,121 (GRCm39)	R371*	probably null	Het
Rassf9	G	A	10: 102,348,369 (GRCm39)		probably benign	Het
Rtl1	A	C	12: 109,559,882 (GRCm39)	N652K	possibly damaging	Het
Sall4	G	C	2: 168,592,160 (GRCm39)	S998C	probably damaging	Het
Sdk1	T	C	5: 142,197,796 (GRCm39)	Y2150H	probably damaging	Het
Serpinb3b	A	T	1: 107,083,669 (GRCm39)	I170K	probably benign	Het
Shank2	A	T	7: 143,682,137 (GRCm39)	D390V	probably damaging	Het
Slc39a4	A	G	15: 76,500,930 (GRCm39)	V11A	probably benign	Het
Synj2	C	T	17: 6,040,584 (GRCm39)	T220I	probably benign	Het
Taar7a	A	G	10: 23,868,733 (GRCm39)	I216T	probably benign	Het
Tas2r122	G	T	6: 132,688,634 (GRCm39)	D86E	probably benign	Het
Tbxa2r	T	A	10: 81,169,018 (GRCm39)	C236S	probably benign	Het
Trav13d-4	C	A	14: 53,995,286 (GRCm39)	T80K	probably benign	Het
Trav6d-5	T	A	14: 53,033,077 (GRCm39)	C109S	probably damaging	Het
Trio	A	G	15: 27,847,495 (GRCm39)	M982T	probably benign	Het
Unc80	A	T	1: 66,683,485 (GRCm39)	T2176S	possibly damaging	Het
Ypel1	T	C	16: 16,910,890 (GRCm39)	T259A	probably damaging	Het
Zfp120	A	T	2: 149,959,197 (GRCm39)	I397K	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
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
Z1176:Pkp2	UTSW	16	16,048,564 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGAGGCAAGAACATTTTCAGTTG -3'
(R):5'- GGCTTGTCACAGATATAGTGCTC -3'

Sequencing Primer
(F):5'- GGCAAGAACATTTTCAGTTGTTTTC -3'
(R):5'- TGTCACAGATATAGTGCTCATATACG -3'

Posted On

2022-10-06