Mutagenetix > Incidental Mutation

Incidental Mutation 'R1879:Pphln1'

211434

Institutional Source

Beutler Lab

Gene Symbol

Pphln1

Ensembl Gene

ENSMUSG00000036167

Gene Name

periphilin 1

Synonyms

1110063K05Rik, CR, 1600022A19Rik

MMRRC Submission

039900-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1879 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93296231-93389391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 93321927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 35 (D35E)

Ref Sequence

ENSEMBL: ENSMUSP00000068165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049122] [ENSMUST00000068457] [ENSMUST00000109256] [ENSMUST00000165935] [ENSMUST00000229071] [ENSMUST00000230385]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000049122
AA Change: D104E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042762
Gene: ENSMUSG00000036167
AA Change: D104E

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: D35E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068165
Gene: ENSMUSG00000036167
AA Change: D35E

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: D35E

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104879
Gene: ENSMUSG00000036167
AA Change: D35E

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: D35E

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131121
Gene: ENSMUSG00000036167
AA Change: D35E

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: D35E

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000230385

Coding Region Coverage

1x: 97.3%
3x: 96.6%
10x: 94.9%
20x: 91.6%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,686,488 (GRCm39)	D268G	possibly damaging	Het
Abce1	T	C	8: 80,414,085 (GRCm39)	N542S	probably benign	Het
Abcf1	T	A	17: 36,272,704 (GRCm39)	E260D	probably benign	Het
Ahcy	A	G	2: 154,906,072 (GRCm39)		probably null	Het
Akap13	C	T	7: 75,260,475 (GRCm39)	A1033V	probably benign	Het
Alkbh6	A	G	7: 30,011,320 (GRCm39)	N46S	probably damaging	Het
Ankrd34c	A	C	9: 89,612,126 (GRCm39)	L72V	probably damaging	Het
Arf4	T	A	14: 26,368,076 (GRCm39)	N25K	probably damaging	Het
Arhgef4	A	G	1: 34,761,521 (GRCm39)	D259G	unknown	Het
Cavin1	C	A	11: 100,861,036 (GRCm39)	G86V	probably damaging	Het
Ces1d	G	A	8: 93,916,126 (GRCm39)	T167I	probably benign	Het
Cfb	T	C	17: 35,079,536 (GRCm39)	I754V	probably benign	Het
Clcnkb	C	T	4: 141,135,130 (GRCm39)	R536H	possibly damaging	Het
Clpb	T	G	7: 101,355,690 (GRCm39)	S181R	probably benign	Het
Col1a1	T	C	11: 94,842,051 (GRCm39)	M1366T	unknown	Het
Cped1	T	A	6: 22,085,014 (GRCm39)		probably null	Het
Crip1	G	A	12: 113,116,952 (GRCm39)	C82Y	probably damaging	Het
Csmd3	T	C	15: 47,520,915 (GRCm39)	T2810A	possibly damaging	Het
Cyp2b9	A	T	7: 25,897,994 (GRCm39)	D266V	probably damaging	Het
Cyp46a1	A	G	12: 108,319,385 (GRCm39)	D294G	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dst	A	G	1: 34,227,924 (GRCm39)	E1514G	probably benign	Het
Dync1h1	A	G	12: 110,591,070 (GRCm39)	E1046G	probably benign	Het
Eya2	T	C	2: 165,506,726 (GRCm39)	V4A	probably benign	Het
Frem3	A	T	8: 81,338,567 (GRCm39)	R287*	probably null	Het
Fuca2	T	A	10: 13,383,000 (GRCm39)	C323S	possibly damaging	Het
Ggt7	T	C	2: 155,356,707 (GRCm39)	E4G	possibly damaging	Het
Gli1	C	T	10: 127,169,606 (GRCm39)	R383H	probably damaging	Het
Gm4559	C	A	7: 141,827,998 (GRCm39)	V35F	unknown	Het
Gpm6a	T	A	8: 55,490,365 (GRCm39)	C14S	probably damaging	Het
Hcn2	A	T	10: 79,562,023 (GRCm39)	I340F	probably benign	Het
Hdac9	T	A	12: 34,440,332 (GRCm39)	D349V	probably damaging	Het
Krt34	T	C	11: 99,929,118 (GRCm39)	D364G	possibly damaging	Het
Mon2	C	T	10: 122,838,790 (GRCm39)	R1565H	probably damaging	Het
Myb	T	A	10: 21,017,876 (GRCm39)	M482L	probably benign	Het
Nckap1l	A	T	15: 103,373,028 (GRCm39)	I294F	probably benign	Het
Nr2e1	A	G	10: 42,444,367 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or1r1	T	A	11: 73,875,368 (GRCm39)	D22V	probably benign	Het
Or4k38	A	T	2: 111,165,808 (GRCm39)	I205N	possibly damaging	Het
Or52h7	T	C	7: 104,214,118 (GRCm39)	V230A	possibly damaging	Het
Pde8b	A	T	13: 95,221,723 (GRCm39)	I308N	possibly damaging	Het
Pdzd2	T	C	15: 12,373,986 (GRCm39)	R2050G	possibly damaging	Het
Phc3	C	A	3: 30,968,607 (GRCm39)	S840I	probably damaging	Het
Piezo2	T	A	18: 63,247,031 (GRCm39)	Y327F	probably damaging	Het
Pnliprp1	A	T	19: 58,732,516 (GRCm39)	I460F	probably benign	Het
Prdm6	G	A	18: 53,701,289 (GRCm39)	V360I	probably damaging	Het
Rab35	T	A	5: 115,778,219 (GRCm39)	W62R	probably damaging	Het
Sct	G	T	7: 140,858,612 (GRCm39)	P70Q	probably damaging	Het
Sdf4	A	G	4: 156,094,304 (GRCm39)	N328S	probably damaging	Het
Senp5	A	T	16: 31,802,642 (GRCm39)	S488R	probably damaging	Het
Serpina3n	A	G	12: 104,375,213 (GRCm39)	E95G	probably benign	Het
Sfswap	C	T	5: 129,618,392 (GRCm39)	A442V	probably benign	Het
Sgcd	T	C	11: 47,246,068 (GRCm39)	I45V	probably benign	Het
Sgcg	T	C	14: 61,474,346 (GRCm39)		probably null	Het
Slc39a12	G	T	2: 14,448,868 (GRCm39)	V489L	probably benign	Het
Slc5a11	T	A	7: 122,838,671 (GRCm39)	I96N	possibly damaging	Het
Slc6a12	A	G	6: 121,324,382 (GRCm39)	D2G	probably damaging	Het
Slc8a1	T	C	17: 81,955,442 (GRCm39)	D532G	probably damaging	Het
Smarcd3	C	A	5: 24,798,019 (GRCm39)	C465F	probably damaging	Het
Smc1b	T	A	15: 84,976,268 (GRCm39)	Q813L	probably benign	Het
Spag1	G	A	15: 36,181,916 (GRCm39)	E25K	probably damaging	Het
Sptan1	A	T	2: 29,885,540 (GRCm39)	N715I	probably damaging	Het
Tas1r2	T	A	4: 139,397,006 (GRCm39)	Y782N	probably damaging	Het
Thap3	A	T	4: 152,067,593 (GRCm39)	C162S	probably benign	Het
Topaz1	T	A	9: 122,578,684 (GRCm39)	D531E	possibly damaging	Het
Vmn1r25	C	T	6: 57,955,912 (GRCm39)	A126T	possibly damaging	Het
Zfhx2	A	G	14: 55,303,074 (GRCm39)	F1637L	probably benign	Het
Zfhx2	T	C	14: 55,310,206 (GRCm39)	Y780C	possibly damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp956	A	T	6: 47,940,678 (GRCm39)	T346S	probably benign	Het
Zkscan1	C	T	5: 138,095,410 (GRCm39)	A219V	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
R1936:Pphln1	UTSW	15	93,386,868 (GRCm39)	missense	possibly damaging	0.79
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'- ACAGGTAAGTGGTGCCTCAG -3'
(R):5'- ATCAGTTACTAGCTACATCACAGTC -3'

Sequencing Primer
(F):5'- AAGTGGTGCCTCAGGTTCC -3'
(R):5'- GCAGTTCAGCTGCACTTT -3'

Posted On

2014-06-30