Mutagenetix > Incidental Mutation

Incidental Mutation 'R1936:Pphln1'

215844

Institutional Source

Beutler Lab

Gene Symbol

Pphln1

Ensembl Gene

ENSMUSG00000036167

Gene Name

periphilin 1

Synonyms

1110063K05Rik, CR, 1600022A19Rik

MMRRC Submission

039954-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1936 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93296231-93389391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93386868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 234 (D234G)

Ref Sequence

ENSEMBL: ENSMUSP00000154876 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049122
AA Change: D322G

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042762
Gene: ENSMUSG00000036167
AA Change: D322G

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

possibly damaging
Transcript: ENSMUST00000068457
AA Change: D253G

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068165
Gene: ENSMUSG00000036167
AA Change: D253G

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

possibly damaging
Transcript: ENSMUST00000109256
AA Change: D234G

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104879
Gene: ENSMUSG00000036167
AA Change: D234G

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

possibly damaging
Transcript: ENSMUST00000165935
AA Change: D234G

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131121
Gene: ENSMUSG00000036167
AA Change: D234G

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

possibly damaging
Transcript: ENSMUST00000229071
AA Change: D234G

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.7438

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

99% (98/99)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,894,061 (GRCm39)	Q226R	possibly damaging	Het
Abca13	G	A	11: 9,243,595 (GRCm39)	M1819I	probably benign	Het
Abca4	G	A	3: 121,846,572 (GRCm39)	V30M	probably benign	Het
Ablim1	T	A	19: 57,204,397 (GRCm39)		probably null	Het
Adgrf3	A	T	5: 30,407,304 (GRCm39)	N207K	probably benign	Het
Anapc4	T	A	5: 52,997,010 (GRCm39)	D94E	probably damaging	Het
Arfgef2	A	G	2: 166,705,523 (GRCm39)	N918S	probably benign	Het
Arhgap45	A	G	10: 79,866,788 (GRCm39)	N1097S	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
AU016765	G	A	17: 64,826,873 (GRCm39)		noncoding transcript	Het
Brd10	A	G	19: 29,731,077 (GRCm39)	F712S	possibly damaging	Het
Cacna2d2	T	C	9: 107,386,455 (GRCm39)	F194S	probably damaging	Het
Cacna2d4	A	G	6: 119,247,722 (GRCm39)	D341G	possibly damaging	Het
Cdc42bpg	A	G	19: 6,360,339 (GRCm39)	Y175C	probably damaging	Het
Cep170b	G	T	12: 112,702,172 (GRCm39)	D322Y	probably damaging	Het
Cflar	T	A	1: 58,791,784 (GRCm39)	Y362*	probably null	Het
Chml	A	T	1: 175,514,825 (GRCm39)	C365*	probably null	Het
Clrn3	A	C	7: 135,115,753 (GRCm39)	I199S	possibly damaging	Het
Crtam	G	C	9: 40,915,846 (GRCm39)	P13A	probably benign	Het
Defb26	T	A	2: 152,350,195 (GRCm39)	K28N	possibly damaging	Het
Dennd1c	G	A	17: 57,380,889 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,768,323 (GRCm39)	M761K	possibly damaging	Het
Dnhd1	A	T	7: 105,323,183 (GRCm39)	M564L	probably benign	Het
Dusp15	A	G	2: 152,787,341 (GRCm39)		probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Eapp	A	T	12: 54,720,513 (GRCm39)	M234K	probably benign	Het
Epha8	T	C	4: 136,667,554 (GRCm39)	D309G	probably benign	Het
Gfi1b	T	C	2: 28,500,125 (GRCm39)	K302R	possibly damaging	Het
Gimap3	A	T	6: 48,742,683 (GRCm39)	F82L	probably damaging	Het
Gm4862	T	C	3: 138,834,253 (GRCm39)		noncoding transcript	Het
Gpatch1	A	G	7: 34,994,947 (GRCm39)	S440P	probably damaging	Het
Gpr152	A	G	19: 4,192,531 (GRCm39)	D24G	probably damaging	Het
Gpr6	T	C	10: 40,947,477 (GRCm39)	E35G	probably benign	Het
Hip1r	T	A	5: 124,134,134 (GRCm39)	M270K	probably damaging	Het
Hk3	C	T	13: 55,159,204 (GRCm39)	V451I	probably damaging	Het
Itprid1	G	T	6: 55,874,666 (GRCm39)	L205F	probably damaging	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Klf16	G	A	10: 80,412,739 (GRCm39)	A99V	probably benign	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lvrn	A	T	18: 47,011,387 (GRCm39)	Y448F	probably benign	Het
Mark3	A	G	12: 111,584,799 (GRCm39)	M132V	probably damaging	Het
Mast3	A	G	8: 71,237,444 (GRCm39)	Y577H	probably damaging	Het
Med24	A	T	11: 98,609,642 (GRCm39)		probably null	Het
Mif	G	T	10: 75,695,681 (GRCm39)	H41N	possibly damaging	Het
Myo18b	T	C	5: 112,908,222 (GRCm39)	N2017S	probably benign	Het
Neurl4	C	T	11: 69,797,959 (GRCm39)	R740C	probably damaging	Het
Nlgn1	G	T	3: 26,385,939 (GRCm39)		probably benign	Het
Or10ad1c	T	A	15: 98,085,462 (GRCm39)	H72L	probably benign	Het
Or2ak6	T	A	11: 58,593,172 (GRCm39)	L215Q	probably damaging	Het
Or5t15	A	G	2: 86,681,745 (GRCm39)	M99T	probably benign	Het
Or8b12i	A	G	9: 20,082,477 (GRCm39)	L130P	probably damaging	Het
Paip1	T	A	13: 119,593,550 (GRCm39)	M463K	probably damaging	Het
Parp3	T	A	9: 106,351,931 (GRCm39)	Y147F	probably damaging	Het
Pgrmc2	C	A	3: 41,037,473 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,316,832 (GRCm39)	A278T	probably benign	Het
Plxnb1	T	C	9: 108,924,715 (GRCm39)		probably null	Het
Prdm2	T	C	4: 142,861,032 (GRCm39)	S753G	probably benign	Het
Prss32	A	G	17: 24,075,024 (GRCm39)	R125G	possibly damaging	Het
Psg22	A	T	7: 18,453,635 (GRCm39)	N149I	probably damaging	Het
Psmd11	T	C	11: 80,319,570 (GRCm39)	L20P	probably damaging	Het
Recql5	T	C	11: 115,788,017 (GRCm39)	Y434C	probably benign	Het
Rexo1	A	G	10: 80,386,303 (GRCm39)	S252P	probably benign	Het
Sdr9c7	A	G	10: 127,739,503 (GRCm39)	K206R	probably benign	Het
Slc17a8	T	C	10: 89,413,777 (GRCm39)	M484V	probably benign	Het
Slc1a2	A	G	2: 102,607,950 (GRCm39)	N530D	probably benign	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slc25a24	A	T	3: 109,043,581 (GRCm39)	E79D	probably damaging	Het
Smchd1	T	C	17: 71,770,786 (GRCm39)	Y132C	probably damaging	Het
Sorcs1	T	C	19: 50,221,082 (GRCm39)	D545G	probably damaging	Het
Sorcs2	A	G	5: 36,228,731 (GRCm39)	S104P	possibly damaging	Het
Speg	C	T	1: 75,408,052 (GRCm39)	T3249I	possibly damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
Tdrd6	A	G	17: 43,937,358 (GRCm39)	L1230P	probably damaging	Het
Tesk2	A	G	4: 116,599,021 (GRCm39)	Y43C	probably benign	Het
Tex101	A	G	7: 24,367,650 (GRCm39)	V234A	probably benign	Het
Tmem161b	T	A	13: 84,441,585 (GRCm39)	L210Q	probably damaging	Het
Tmprss11f	T	A	5: 86,692,723 (GRCm39)	Q67L	probably benign	Het
Tnfrsf23	A	G	7: 143,222,291 (GRCm39)	F174L	probably benign	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Trdmt1	A	G	2: 13,516,420 (GRCm39)	L386P	probably damaging	Het
Trim25	A	T	11: 88,895,576 (GRCm39)	T206S	probably benign	Het
Trit1	T	C	4: 122,948,033 (GRCm39)	I451T	probably benign	Het
Trpc4	T	A	3: 54,187,311 (GRCm39)	M421K	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttn	A	C	2: 76,715,834 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,577,522 (GRCm39)	D24457V	probably damaging	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Vmn2r94	G	A	17: 18,464,554 (GRCm39)	R579*	probably null	Het
Vps72	T	A	3: 95,029,851 (GRCm39)	V290D	probably benign	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zfp26	A	G	9: 20,348,849 (GRCm39)	Y572H	probably benign	Het
Zfp292	A	G	4: 34,807,452 (GRCm39)	V1864A	probably benign	Het
Zfp952	A	T	17: 33,222,643 (GRCm39)	H374L	possibly damaging	Het
Zfy2	C	A	Y: 2,121,496 (GRCm39)	M132I	probably benign	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
R4049:Pphln1	UTSW	15	93,362,987 (GRCm39)	missense	probably damaging	0.99
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'- CCCAAGTGTAAAGCCCTGTG -3'
(R):5'- CCAAAGTCCTGAGCAGAGTTG -3'

Sequencing Primer
(F):5'- ATTCAGTTGTGAGCTGATACCC -3'
(R):5'- CCTGAGCAGAGTTGTCATACTCAG -3'

Posted On

2014-07-14