Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Pkp2'

194733

Institutional Source

Beutler Lab

Gene Symbol

Pkp2

Ensembl Gene

ENSMUSG00000041957

Gene Name

plakophilin 2

Synonyms

1200008D14Rik, Pkp2l, 1200012P04Rik

MMRRC Submission

039800-MU

Accession Numbers

NCBI RefSeq: NM_026163.2; MGI: 1914701

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16213318-16272712 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16262697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 616 (S616P)

Ref Sequence

ENSEMBL: ENSMUSP00000036890 (fasta)

Gene Model

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

AlphaFold

Q9CQ73

Predicted Effect

probably damaging
Transcript: ENSMUST00000039408
AA Change: S616P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957
AA Change: S616P

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

0.2782

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

MGI Phenotype

Strain: 3487374
Lethality: E11-E12
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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	G	6: 50,591,821		probably benign	Het
A430033K04Rik	A	G	5: 138,646,257	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325	K1119N	probably damaging	Het
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Abcc9	T	C	6: 142,627,468		probably benign	Het
Akap3	A	G	6: 126,865,846	E476G	possibly damaging	Het
Aldh3b1	A	G	19: 3,918,740	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ascc3	T	C	10: 50,700,490	V847A	probably damaging	Het
Best3	A	G	10: 117,023,978	N381S	probably benign	Het
Blm	A	T	7: 80,513,370	S78T	probably benign	Het
Bmpr2	T	A	1: 59,868,361	L871Q	probably damaging	Het
Car13	T	A	3: 14,650,735	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 50,792,111	M165V	probably benign	Het
Cd4	A	T	6: 124,866,655	M431K	possibly damaging	Het
Cdh7	C	T	1: 110,052,876	T178I	probably damaging	Het
Ceacam3	C	T	7: 17,158,376	T348I	probably damaging	Het
Cfap54	C	T	10: 92,904,263		probably null	Het
Clcn6	A	T	4: 148,014,301		probably null	Het
Csf3	A	G	11: 98,702,420	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,704,109		probably benign	Het
Cyp2c69	A	G	19: 39,876,371	I221T	probably benign	Het
Dgcr2	T	C	16: 17,857,251		probably benign	Het
Dhcr7	T	C	7: 143,847,513	F474S	probably damaging	Het
Dnah1	T	C	14: 31,310,882	I399V	probably null	Het
Efcab14	T	A	4: 115,752,991	L183Q	probably damaging	Het
Elmsan1	G	A	12: 84,158,350		probably benign	Het
Evx2	A	G	2: 74,659,157	V88A	probably benign	Het
Exph5	A	G	9: 53,373,809	N730S	probably benign	Het
Farsb	T	A	1: 78,466,983	K196I	probably benign	Het
Fbln7	C	T	2: 128,893,762		probably benign	Het
Fhdc1	A	G	3: 84,448,778	F453S	probably damaging	Het
Gast	T	A	11: 100,336,858	W89R	probably damaging	Het
Gata2	A	G	6: 88,205,255	S402G	probably benign	Het
Gin1	T	A	1: 97,792,437	S386T	probably benign	Het
Golgb1	A	G	16: 36,916,001	E1870G	probably damaging	Het
Hivep3	T	A	4: 120,097,571	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,928,760	R486*	probably null	Het
Ifi209	G	A	1: 173,641,162	S186N	probably benign	Het
Ifih1	C	T	2: 62,606,394	A562T	probably damaging	Het
Itch	T	C	2: 155,172,561	L106S	probably damaging	Het
Itga4	T	A	2: 79,315,706		probably null	Het
Kdm4c	A	G	4: 74,280,997	S141G	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klra3	T	C	6: 130,330,263		probably null	Het
Lama2	A	T	10: 27,208,406	S923T	probably damaging	Het
Lama2	G	C	10: 27,208,407	F922L	probably benign	Het
Llgl1	G	A	11: 60,707,047	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,631,681	*301W	probably null	Het
Map1lc3b	C	T	8: 121,593,487		probably benign	Het
Mbd2	A	G	18: 70,616,619	I302V	probably benign	Het
Med27	A	G	2: 29,500,295	Y78C	probably damaging	Het
Mei1	C	T	15: 82,112,570		probably null	Het
Miga1	T	C	3: 152,287,554	E346G	probably damaging	Het
Myef2	A	G	2: 125,115,443	S131P	probably damaging	Het
Myocd	T	C	11: 65,178,701	H899R	probably benign	Het
Ncam1	A	G	9: 49,545,256		probably benign	Het
Ngf	T	A	3: 102,520,197	N87K	possibly damaging	Het
Nol10	T	A	12: 17,416,708		probably benign	Het
Nrip2	A	G	6: 128,408,268	I221V	probably benign	Het
Nup205	G	A	6: 35,205,431	G777D	probably damaging	Het
Olfr1446	A	G	19: 12,889,683	V298A	probably damaging	Het
Olfr199	A	G	16: 59,215,981	F211L	probably benign	Het
Olfr802	T	A	10: 129,682,212	T176S	probably benign	Het
Olfr855	A	T	9: 19,585,386	Q283L	probably damaging	Het
Olfr974	G	T	9: 39,942,955	D232Y	probably benign	Het
Oxt	A	T	2: 130,576,300	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,695,930	S2248P	probably benign	Het
Pias1	A	G	9: 62,952,178	V16A	probably damaging	Het
Plch2	T	C	4: 155,000,083	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,154,159	N540D	probably benign	Het
Ptpn23	G	A	9: 110,391,678	H255Y	possibly damaging	Het
Rad21	T	C	15: 51,972,307	N237D	probably benign	Het
Ryr3	A	C	2: 112,751,768		probably null	Het
Sgk1	C	A	10: 21,997,108		probably benign	Het
Slc1a5	G	T	7: 16,797,539	A490S	probably damaging	Het
Slc5a8	T	C	10: 88,919,464	Y478H	probably benign	Het
Slc5a8	T	A	10: 88,919,466	Y478*	probably null	Het
Slc9a3	A	T	13: 74,163,071	M562L	probably benign	Het
Thsd7a	G	A	6: 12,555,715	R57*	probably null	Het
Tiam1	T	C	16: 89,860,279	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,724,366	S47P	probably damaging	Het
Trim39	C	T	17: 36,263,940	R190Q	probably damaging	Het
Ttc32	A	T	12: 9,035,073	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,965,721	T3304A	probably benign	Het
Wdr35	A	C	12: 9,012,728	D638A	probably damaging	Het
Wwc1	G	T	11: 35,861,844	P797T	probably benign	Het
Zan	T	A	5: 137,464,518	T800S	unknown	Het
Zbbx	A	G	3: 75,083,619		probably benign	Het
Zufsp	T	C	10: 33,935,176	M291V	probably damaging	Het

Other mutations in Pkp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P0014:Pkp2	UTSW	16	16240522	missense	probably benign	0.08
R0131:Pkp2	UTSW	16	16240713	splice site	probably benign
R0581:Pkp2	UTSW	16	16269783	splice site	probably benign
R0722:Pkp2	UTSW	16	16247028	missense	probably benign
R0882:Pkp2	UTSW	16	16269711	missense	probably damaging	1.00
R0942:Pkp2	UTSW	16	16226030	missense	probably benign
R1236:Pkp2	UTSW	16	16225902	missense	probably benign
R1265:Pkp2	UTSW	16	16225304	missense	probably benign	0.00
R1674:Pkp2	UTSW	16	16240558	missense	possibly damaging	0.50
R1687:Pkp2	UTSW	16	16268709	critical splice donor site	probably null
R2094:Pkp2	UTSW	16	16246967	missense	probably damaging	1.00
R4360:Pkp2	UTSW	16	16268682	missense	probably benign	0.03
R4739:Pkp2	UTSW	16	16230724	missense	probably damaging	0.99
R5162:Pkp2	UTSW	16	16260336	missense	probably damaging	1.00
R5607:Pkp2	UTSW	16	16260375	missense	probably damaging	0.98
R6334:Pkp2	UTSW	16	16226069	missense	probably damaging	0.99
R6918:Pkp2	UTSW	16	16272218	missense	probably damaging	1.00
R7274:Pkp2	UTSW	16	16246929	missense	possibly damaging	0.92
R7408:Pkp2	UTSW	16	16261673	missense	possibly damaging	0.50
R7698:Pkp2	UTSW	16	16240659	missense	probably benign	0.01
R7788:Pkp2	UTSW	16	16225408	missense	probably benign	0.01
R8030:Pkp2	UTSW	16	16246910	missense	probably benign
R8056:Pkp2	UTSW	16	16213400	missense	probably benign	0.28
R8161:Pkp2	UTSW	16	16213449	missense	probably damaging	0.99
R8253:Pkp2	UTSW	16	16268542	missense	probably damaging	1.00
R8681:Pkp2	UTSW	16	16230681	missense	probably benign
R9259:Pkp2	UTSW	16	16225850	missense	probably damaging	1.00
R9570:Pkp2	UTSW	16	16260414	missense	possibly damaging	0.71
R9720:Pkp2	UTSW	16	16269720	missense	probably benign	0.18
Z1176:Pkp2	UTSW	16	16230700	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGTGCAGAGTTATAGGCATCACTTG -3'
(R):5'- GCTGTTCAGACACTGAGGCTGAAG -3'

Sequencing Primer
(F):5'- TGGCTGTGGCATTCCATT -3'
(R):5'- AAAAGCCCTCGTGGTGTCTG -3'

Posted On

2014-05-23