Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Pkp2'

68316

Institutional Source

Beutler Lab

Gene Symbol

Pkp2

Ensembl Gene

ENSMUSG00000041957

Gene Name

plakophilin 2

Synonyms

Pkp2l, 1200008D14Rik, 1200012P04Rik

MMRRC Submission

038416-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0131 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16031209-16090576 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 16058577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039408] [ENSMUST00000161342]

AlphaFold

Q9CQ73

Predicted Effect

probably benign
Transcript: ENSMUST00000039408

SMART Domains

Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161342

SMART Domains

Protein: ENSMUSP00000125219
Gene: ENSMUSG00000041957

Domain	Start	End	E-Value	Type
low complexity region	258	271	N/A	INTRINSIC
Pfam:Arm	342	382	3.5e-10	PFAM
Pfam:Arm	384	425	4.7e-9	PFAM
Blast:ARM	426	477	5e-27	BLAST

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Dazap1	T	G	10: 80,114,060 (GRCm39)		probably null	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Fat2	A	T	11: 55,164,037 (GRCm39)	S3073T	probably benign	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
Gm16069	T	C	3: 89,088,232 (GRCm39)		probably benign	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kif3a	A	G	11: 53,477,743 (GRCm39)	K404R	possibly damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Or8u10	T	C	2: 85,915,844 (GRCm39)	I92M	probably damaging	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tbc1d9b	T	C	11: 50,026,751 (GRCm39)	I73T	probably benign	Het
Tgtp1	A	G	11: 48,878,159 (GRCm39)	F182S	probably benign	Het
Tmcc3	T	C	10: 94,381,437 (GRCm39)		probably benign	Het
Tmem116	A	G	5: 121,631,845 (GRCm39)		probably benign	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Tusc1	A	T	4: 93,223,070 (GRCm39)	H196Q	probably benign	Het
Ugt2a1	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Zfp879	C	A	11: 50,724,426 (GRCm39)	G210V	probably damaging	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	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
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
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'- ACGAAGATGTTCAACGGGCTGC -3'
(R):5'- TAATGCATGGACCGCTCCGTTTTCC -3'

Sequencing Primer
(F):5'- CAACGGGCTGCTTGTGG -3'
(R):5'- GGATGCCTGAGATAACATCAAATC -3'

Posted On

2013-09-03