Mutagenetix > Incidental Mutation

Incidental Mutation 'R4670:Pkp3'

348364

Institutional Source

Beutler Lab

Gene Symbol

Pkp3

Ensembl Gene

ENSMUSG00000054065

Gene Name

plakophilin 3

Synonyms

2310056L12Rik

MMRRC Submission

041926-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R4670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140658202-140670424 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140662612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 75 (P75S)

Ref Sequence

ENSEMBL: ENSMUSP00000124434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066873] [ENSMUST00000106039] [ENSMUST00000159375] [ENSMUST00000160869] [ENSMUST00000163041]

AlphaFold

Q9QY23

Predicted Effect

probably benign
Transcript: ENSMUST00000066873
AA Change: P153S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065
AA Change: P153S

Domain	Start	End	E-Value	Type
low complexity region	40	54	N/A	INTRINSIC
low complexity region	139	150	N/A	INTRINSIC
low complexity region	179	194	N/A	INTRINSIC
low complexity region	219	228	N/A	INTRINSIC
ARM	350	390	8.11e-5	SMART
ARM	392	432	3.24e-4	SMART
ARM	489	536	3.85e0	SMART
internal_repeat_1	605	702	2.91e-9	PROSPERO
low complexity region	717	731	N/A	INTRINSIC
low complexity region	757	774	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106039
AA Change: P178S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065
AA Change: P178S

Domain	Start	End	E-Value	Type
low complexity region	65	79	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	204	219	N/A	INTRINSIC
low complexity region	244	253	N/A	INTRINSIC
ARM	375	415	8.11e-5	SMART
ARM	417	457	3.24e-4	SMART
ARM	514	561	3.85e0	SMART
internal_repeat_1	630	727	4.99e-9	PROSPERO
low complexity region	742	756	N/A	INTRINSIC
low complexity region	782	799	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159375

Predicted Effect

probably benign
Transcript: ENSMUST00000160869

SMART Domains

Protein: ENSMUSP00000124013
Gene: ENSMUSG00000054065

Domain	Start	End	E-Value	Type
low complexity region	40	54	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163041
AA Change: P75S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000124434
Gene: ENSMUSG00000054065
AA Change: P75S

Domain	Start	End	E-Value	Type
low complexity region	61	72	N/A	INTRINSIC
low complexity region	101	116	N/A	INTRINSIC
low complexity region	141	150	N/A	INTRINSIC

Meta Mutation Damage Score

0.1189

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (69/71)

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 protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit retarded hair growth, epidermal thickening and abnormal hair follicles that lead to secondary alopecia and acute dermatitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,130,983 (GRCm39)		probably null	Het
Alb	T	A	5: 90,610,665 (GRCm39)	S82T	probably benign	Het
Arf4	A	G	14: 26,374,248 (GRCm39)		probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Arhgap32	A	G	9: 32,081,441 (GRCm39)	E153G	probably benign	Het
Arhgef18	T	A	8: 3,484,897 (GRCm39)	M200K	probably damaging	Het
Atp1a4	T	A	1: 172,062,567 (GRCm39)	N647Y	probably benign	Het
Atp5f1c	A	T	2: 10,064,428 (GRCm39)	L226Q	probably damaging	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cadm3	T	A	1: 173,174,013 (GRCm39)	T67S	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Chst7	C	A	X: 19,927,110 (GRCm39)	R386S	probably damaging	Het
Cyp4f37	A	T	17: 32,844,126 (GRCm39)	M77L	probably benign	Het
Dnah7b	A	T	1: 46,117,684 (GRCm39)	D50V	probably damaging	Het
Galnt4	A	G	10: 98,945,160 (GRCm39)	D295G	possibly damaging	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm6471	G	A	7: 142,385,360 (GRCm39)		noncoding transcript	Het
Gm6818	T	A	7: 38,101,981 (GRCm39)		noncoding transcript	Het
Gm9271	T	A	7: 39,013,734 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,084,551 (GRCm39)		probably null	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Ift140	C	A	17: 25,317,935 (GRCm39)		probably benign	Het
Itih5	A	C	2: 10,195,180 (GRCm39)	I191L	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kank1	T	C	19: 25,387,944 (GRCm39)	M511T	probably benign	Het
Krt74	A	T	15: 101,667,304 (GRCm39)		noncoding transcript	Het
Lrrc37a	A	G	11: 103,395,363 (GRCm39)	S21P	probably benign	Het
Lrrc8c	G	A	5: 105,756,240 (GRCm39)	V672I	probably benign	Het
Lypd4	T	C	7: 24,566,151 (GRCm39)	R58G	probably benign	Het
Magi1	A	T	6: 93,663,624 (GRCm39)		probably null	Het
Mefv	T	A	16: 3,526,071 (GRCm39)	L745F	possibly damaging	Het
Myh13	A	T	11: 67,255,564 (GRCm39)	K1645*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,171,382 (GRCm39)		noncoding transcript	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or51aa2	A	G	7: 103,188,393 (GRCm39)	V16A	possibly damaging	Het
Or6k6	T	A	1: 173,945,427 (GRCm39)	M52L	probably benign	Het
Or8k37	T	C	2: 86,469,512 (GRCm39)	D180G	possibly damaging	Het
P2ry12	T	C	3: 59,125,325 (GRCm39)		probably null	Het
Pcx	T	A	19: 4,669,916 (GRCm39)	V861E	probably damaging	Het
Plscr4	T	C	9: 92,364,920 (GRCm39)		probably null	Het
Pole	A	G	5: 110,454,253 (GRCm39)	T923A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rhot2	A	C	17: 26,060,305 (GRCm39)		probably benign	Het
Rsrp1	A	G	4: 134,651,488 (GRCm39)	Y84C	unknown	Het
Sbf2	T	C	7: 109,934,606 (GRCm39)	K1348E	probably damaging	Het
Sgip1	A	T	4: 102,726,951 (GRCm39)	N53Y	probably damaging	Het
Snapc2	A	G	8: 4,304,998 (GRCm39)	T127A	possibly damaging	Het
Snx8	A	G	5: 140,341,713 (GRCm39)		probably null	Het
Spag8	A	G	4: 43,653,378 (GRCm39)		probably benign	Het
Srebf2	T	C	15: 82,076,503 (GRCm39)	F718L	probably damaging	Het
Szt2	C	G	4: 118,233,026 (GRCm39)		probably benign	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Tubgcp4	T	A	2: 121,004,146 (GRCm39)	Y62*	probably null	Het
Usp29	T	A	7: 6,965,914 (GRCm39)	S586T	possibly damaging	Het
Vasp	T	C	7: 18,998,350 (GRCm39)	N108S	probably benign	Het
Vmn1r214	A	G	13: 23,219,141 (GRCm39)	M212V	probably benign	Het
Wipi2	G	C	5: 142,645,345 (GRCm39)	A194P	probably benign	Het
Zbtb4	T	A	11: 69,667,355 (GRCm39)	I220N	probably damaging	Het
Zcchc2	A	T	1: 105,917,996 (GRCm39)		probably benign	Het
Zfp729a	T	A	13: 67,769,534 (GRCm39)	K232*	probably null	Het
Zfp995	A	T	17: 22,106,320 (GRCm39)	M1K	probably null	Het

Other mutations in Pkp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Pkp3	APN	7	140,664,095 (GRCm39)	nonsense	probably null
IGL01367:Pkp3	APN	7	140,663,989 (GRCm39)	missense	probably damaging	1.00
IGL01793:Pkp3	APN	7	140,668,817 (GRCm39)	missense	probably benign	0.01
IGL02140:Pkp3	APN	7	140,669,249 (GRCm39)	missense	probably damaging	1.00
IGL02231:Pkp3	APN	7	140,664,151 (GRCm39)	missense	probably damaging	1.00
IGL02708:Pkp3	APN	7	140,669,681 (GRCm39)	unclassified	probably benign
IGL02755:Pkp3	APN	7	140,668,318 (GRCm39)	splice site	probably null
IGL03017:Pkp3	APN	7	140,663,283 (GRCm39)	missense	probably benign	0.12
IGL03351:Pkp3	APN	7	140,662,606 (GRCm39)	missense	probably benign
PIT4514001:Pkp3	UTSW	7	140,669,623 (GRCm39)	missense	probably damaging	0.99
R0145:Pkp3	UTSW	7	140,669,676 (GRCm39)	critical splice donor site	probably null
R0153:Pkp3	UTSW	7	140,663,256 (GRCm39)	missense	probably damaging	1.00
R0184:Pkp3	UTSW	7	140,668,280 (GRCm39)	missense	probably benign	0.41
R1014:Pkp3	UTSW	7	140,662,739 (GRCm39)	missense	probably benign	0.03
R1664:Pkp3	UTSW	7	140,667,560 (GRCm39)	missense	probably damaging	1.00
R1844:Pkp3	UTSW	7	140,668,415 (GRCm39)	missense	probably damaging	1.00
R1891:Pkp3	UTSW	7	140,663,969 (GRCm39)	splice site	probably null
R2100:Pkp3	UTSW	7	140,663,205 (GRCm39)	missense	probably damaging	1.00
R3772:Pkp3	UTSW	7	140,662,259 (GRCm39)	start codon destroyed	probably null
R4003:Pkp3	UTSW	7	140,668,650 (GRCm39)	critical splice acceptor site	probably null
R4089:Pkp3	UTSW	7	140,664,056 (GRCm39)	missense	probably damaging	1.00
R5266:Pkp3	UTSW	7	140,663,190 (GRCm39)	missense	probably damaging	1.00
R5619:Pkp3	UTSW	7	140,668,419 (GRCm39)	missense	probably damaging	1.00
R6113:Pkp3	UTSW	7	140,662,569 (GRCm39)	missense	probably damaging	0.97
R6820:Pkp3	UTSW	7	140,659,757 (GRCm39)	critical splice donor site	probably null
R7650:Pkp3	UTSW	7	140,662,283 (GRCm39)	missense	probably benign	0.00
R7662:Pkp3	UTSW	7	140,658,292 (GRCm39)	missense	probably benign	0.03
R8087:Pkp3	UTSW	7	140,667,551 (GRCm39)	missense	possibly damaging	0.56
R8335:Pkp3	UTSW	7	140,667,669 (GRCm39)	missense	probably damaging	1.00
R9525:Pkp3	UTSW	7	140,668,310 (GRCm39)	missense	probably damaging	1.00
X0028:Pkp3	UTSW	7	140,669,861 (GRCm39)	splice site	probably null
Z1177:Pkp3	UTSW	7	140,662,648 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGAGCTCTGGATCAGAAG -3'
(R):5'- AGCATAGGCCCTGTAGGTAG -3'

Sequencing Primer
(F):5'- GGTGCCAGGTAAACCCCAGATAC -3'
(R):5'- TAGGCCCTGTAGGTAGAGGCG -3'

Posted On

2015-10-08