Mutagenetix > Incidental Mutation

Incidental Mutation 'R4049:Pphln1'

314068

Institutional Source

Beutler Lab

Gene Symbol

Pphln1

Ensembl Gene

ENSMUSG00000036167

Gene Name

periphilin 1

Synonyms

1110063K05Rik, CR, 1600022A19Rik

MMRRC Submission

041616-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93296231-93389391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93362987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 202 (A202E)

Ref Sequence

ENSEMBL: ENSMUSP00000068165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049122] [ENSMUST00000068457] [ENSMUST00000109256] [ENSMUST00000165935] [ENSMUST00000229071]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000049122
AA Change: A271E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042762
Gene: ENSMUSG00000036167
AA Change: A271E

Domain	Start	End	E-Value	Type
low complexity region	35	59	N/A	INTRINSIC
low complexity region	154	174	N/A	INTRINSIC
low complexity region	215	231	N/A	INTRINSIC
Pfam:Lge1	275	365	2.4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000068457
AA Change: A202E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068165
Gene: ENSMUSG00000036167
AA Change: A202E

Domain	Start	End	E-Value	Type
low complexity region	85	105	N/A	INTRINSIC
low complexity region	146	162	N/A	INTRINSIC
Pfam:Lge1	179	297	8.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109256
AA Change: A183E

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104879
Gene: ENSMUSG00000036167
AA Change: A183E

Domain	Start	End	E-Value	Type
low complexity region	85	105	N/A	INTRINSIC
low complexity region	127	143	N/A	INTRINSIC
Pfam:Lge1	160	278	7.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165935
AA Change: A183E

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131121
Gene: ENSMUSG00000036167
AA Change: A183E

Domain	Start	End	E-Value	Type
low complexity region	85	105	N/A	INTRINSIC
low complexity region	127	143	N/A	INTRINSIC
Pfam:Lge1	160	278	7.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229071
AA Change: A183E

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0944

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E7.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,832,404 (GRCm39)	E1190V	probably damaging	Het
Arhgef10	A	G	8: 15,029,998 (GRCm39)	T928A	probably benign	Het
Arhgef10l	T	A	4: 140,242,762 (GRCm39)	I836F	probably benign	Het
Blm	T	A	7: 80,152,610 (GRCm39)	T446S	probably benign	Het
Ccdc63	T	A	5: 122,260,813 (GRCm39)	Q237L	probably damaging	Het
Ccn5	A	G	2: 163,670,904 (GRCm39)	D137G	probably damaging	Het
Cep57l1	G	T	10: 41,605,356 (GRCm39)	R130S	probably damaging	Het
Clstn2	T	G	9: 97,339,613 (GRCm39)	E786A	possibly damaging	Het
Col16a1	C	T	4: 129,962,545 (GRCm39)	P540L	probably damaging	Het
Csf2	A	G	11: 54,140,159 (GRCm39)	F61L	probably damaging	Het
Ctr9	C	T	7: 110,654,750 (GRCm39)	R1094C	unknown	Het
Cyp3a41a	A	G	5: 145,650,350 (GRCm39)	C98R	probably damaging	Het
Dthd1	T	A	5: 62,984,508 (GRCm39)	C404*	probably null	Het
Egfem1	A	C	3: 29,740,880 (GRCm39)	H518P	probably benign	Het
Elf3	T	C	1: 135,182,015 (GRCm39)	S369G	probably benign	Het
Eml6	C	T	11: 29,788,577 (GRCm39)	V503M	probably damaging	Het
Enthd1	T	C	15: 80,444,240 (GRCm39)	D105G	probably damaging	Het
Eral1	A	G	11: 77,966,428 (GRCm39)	L250P	probably damaging	Het
Gdf15	A	T	8: 71,082,605 (GRCm39)	M167K	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
Herc3	A	G	6: 58,853,822 (GRCm39)	I623V	probably damaging	Het
Mad1l1	A	G	5: 140,118,571 (GRCm39)	S457P	probably damaging	Het
Map1lc3a	G	T	2: 155,119,462 (GRCm39)	V91F	possibly damaging	Het
Map4k3	A	G	17: 80,913,394 (GRCm39)	V617A	probably benign	Het
Mov10l1	T	A	15: 88,879,235 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Ncor1	G	T	11: 62,220,494 (GRCm39)		probably null	Het
Nfe2	C	T	15: 103,159,364 (GRCm39)	E36K	possibly damaging	Het
Oprm1	G	A	10: 6,779,087 (GRCm39)	V95I	probably benign	Het
Or4a78	T	C	2: 89,498,006 (GRCm39)	I75V	probably benign	Het
Or4c107	A	G	2: 88,789,617 (GRCm39)	K269R	probably benign	Het
Or52d3	T	C	7: 104,229,575 (GRCm39)	F241L	probably benign	Het
Or5d46	T	C	2: 88,174,144 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,130,995 (GRCm39)	H21Q	probably benign	Het
Pcolce2	A	T	9: 95,520,808 (GRCm39)	I62F	probably damaging	Het
Pfpl	T	A	19: 12,407,053 (GRCm39)	C435S	probably damaging	Het
Pkhd1l1	G	A	15: 44,361,953 (GRCm39)	C542Y	probably damaging	Het
Plekha5	T	C	6: 140,529,597 (GRCm39)	S75P	probably damaging	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Prokr2	T	C	2: 132,223,414 (GRCm39)	T43A	probably benign	Het
Rai14	T	C	15: 10,592,298 (GRCm39)	N199S	probably benign	Het
Rasgrp2	T	C	19: 6,454,757 (GRCm39)	L199P	probably damaging	Het
Rnf213	A	C	11: 119,373,274 (GRCm39)	M4939L	possibly damaging	Het
Slc23a2	C	T	2: 131,902,603 (GRCm39)	R533Q	probably benign	Het
Slc7a7	T	C	14: 54,610,548 (GRCm39)		probably null	Het
Snrpd2	T	A	7: 18,885,232 (GRCm39)	V31E	probably damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Srsf4	T	C	4: 131,627,854 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,737,630 (GRCm39)	S1274P	probably damaging	Het
Tcof1	C	A	18: 60,965,975 (GRCm39)	A376S	possibly damaging	Het
Thsd1	T	A	8: 22,733,180 (GRCm39)	Y76N	possibly damaging	Het
Timm44	A	G	8: 4,310,561 (GRCm39)	V397A	probably benign	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Trbv31	C	A	6: 41,534,639 (GRCm39)	C107F	probably damaging	Het
Trim37	T	A	11: 87,031,429 (GRCm39)		probably null	Het
Ttll5	T	C	12: 86,059,573 (GRCm39)	V1226A	probably benign	Het
Ube3b	T	C	5: 114,550,931 (GRCm39)	V865A	probably benign	Het
Vmn2r86	A	T	10: 130,282,966 (GRCm39)	M550K	probably damaging	Het
Vps54	C	A	11: 21,250,183 (GRCm39)	T373N	probably benign	Het
Wdr64	T	G	1: 175,633,422 (GRCm39)	I891S	probably benign	Het
Zfhx4	C	T	3: 5,463,919 (GRCm39)	S1384L	probably damaging	Het
Zfp703	A	G	8: 27,469,113 (GRCm39)	E259G	possibly damaging	Het
Zfp933	T	C	4: 147,910,969 (GRCm39)	H209R	probably damaging	Het
Zfp980	A	G	4: 145,429,170 (GRCm39)	H633R	probably damaging	Het

Other mutations in Pphln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Pphln1	APN	15	93,363,091 (GRCm39)	missense	probably damaging	1.00
IGL01305:Pphln1	APN	15	93,386,985 (GRCm39)	missense	probably damaging	1.00
IGL01651:Pphln1	APN	15	93,386,864 (GRCm39)	missense	probably damaging	1.00
IGL03219:Pphln1	APN	15	93,363,136 (GRCm39)	splice site	probably benign
ANU22:Pphln1	UTSW	15	93,386,985 (GRCm39)	missense	probably damaging	1.00
R0294:Pphln1	UTSW	15	93,318,171 (GRCm39)	missense	probably damaging	1.00
R0309:Pphln1	UTSW	15	93,339,588 (GRCm39)	missense	possibly damaging	0.55
R0645:Pphln1	UTSW	15	93,318,192 (GRCm39)	missense	possibly damaging	0.80
R1208:Pphln1	UTSW	15	93,357,610 (GRCm39)	missense	probably damaging	1.00
R1208:Pphln1	UTSW	15	93,357,610 (GRCm39)	missense	probably damaging	1.00
R1879:Pphln1	UTSW	15	93,321,927 (GRCm39)	missense	probably damaging	0.99
R1936:Pphln1	UTSW	15	93,386,868 (GRCm39)	missense	possibly damaging	0.79
R5034:Pphln1	UTSW	15	93,350,010 (GRCm39)	missense	probably benign
R5472:Pphln1	UTSW	15	93,386,856 (GRCm39)	missense	possibly damaging	0.89
R5945:Pphln1	UTSW	15	93,353,413 (GRCm39)	critical splice donor site	probably null
R7116:Pphln1	UTSW	15	93,353,406 (GRCm39)	missense	probably benign	0.10
R7989:Pphln1	UTSW	15	93,386,960 (GRCm39)	missense	possibly damaging	0.82
R8239:Pphln1	UTSW	15	93,386,930 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AAAGTAGCAGTCATGTCCTCTG -3'
(R):5'- CTGGAGTTTCAAGTGGAAAAGACAATC -3'

Sequencing Primer
(F):5'- GGCCTTCCTCATACACGC -3'
(R):5'- TTCAGTGCAAACATTCACGTC -3'

Posted On

2015-04-30