Mutagenetix > Incidental Mutation

Incidental Mutation 'R5945:Pphln1'

460580

Institutional Source

Beutler Lab

Gene Symbol

Pphln1

Ensembl Gene

ENSMUSG00000036167

Gene Name

periphilin 1

Synonyms

1110063K05Rik, CR, 1600022A19Rik

MMRRC Submission

044137-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93296231-93389391 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 93353413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably null
Transcript: ENSMUST00000049122

SMART Domains

Protein: ENSMUSP00000042762
Gene: ENSMUSG00000036167

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 null
Transcript: ENSMUST00000068457

SMART Domains

Protein: ENSMUSP00000068165
Gene: ENSMUSG00000036167

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 null
Transcript: ENSMUST00000109256

SMART Domains

Protein: ENSMUSP00000104879
Gene: ENSMUSG00000036167

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 null
Transcript: ENSMUST00000165935

SMART Domains

Protein: ENSMUSP00000131121
Gene: ENSMUSG00000036167

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 null
Transcript: ENSMUST00000229071

Meta Mutation Damage Score

0.9502

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (101/101)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,601 (GRCm39)		noncoding transcript	Het
Abca13	C	T	11: 9,243,398 (GRCm39)	H1754Y	probably benign	Het
Abi1	T	C	2: 22,929,977 (GRCm39)	E34G	probably damaging	Het
Apobec3	C	T	15: 79,782,047 (GRCm39)	T19I	probably damaging	Het
Arel1	C	A	12: 84,973,121 (GRCm39)	V559L	probably benign	Het
Arhgef10	T	C	8: 15,030,028 (GRCm39)		probably null	Het
Asb6	T	C	2: 30,718,215 (GRCm39)		probably benign	Het
Asxl2	T	C	12: 3,550,439 (GRCm39)	V727A	possibly damaging	Het
Atp13a5	C	A	16: 29,055,995 (GRCm39)	R1100L	probably benign	Het
Atp6v1a	A	G	16: 43,920,309 (GRCm39)	V429A	probably damaging	Het
Caml	A	G	13: 55,776,445 (GRCm39)	Y228C	probably damaging	Het
Ccdc14	A	G	16: 34,543,958 (GRCm39)	E772G	probably damaging	Het
Ccdc96	A	G	5: 36,643,194 (GRCm39)	E400G	probably damaging	Het
Ces1h	T	A	8: 94,090,254 (GRCm39)	E266V	probably benign	Het
Chd5	G	T	4: 152,464,408 (GRCm39)	Q1522H	probably benign	Het
CN725425	T	A	15: 91,129,980 (GRCm39)	I281N	possibly damaging	Het
Cngb3	A	T	4: 19,283,579 (GRCm39)	E62V	probably null	Het
Cops5	T	A	1: 10,108,235 (GRCm39)		probably benign	Het
Crhr2	T	A	6: 55,077,667 (GRCm39)	I232F	possibly damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Ddx31	T	A	2: 28,749,902 (GRCm39)	I308N	probably damaging	Het
Efcab14	T	A	4: 115,613,664 (GRCm39)	V204D	probably damaging	Het
Emsy	T	C	7: 98,268,590 (GRCm39)	T484A	probably damaging	Het
Ep400	A	T	5: 110,830,732 (GRCm39)	I2257N	unknown	Het
Epb41l4a	T	A	18: 33,961,783 (GRCm39)	Q420L	possibly damaging	Het
Fat4	A	G	3: 39,037,355 (GRCm39)	D3669G	probably benign	Het
Fmnl2	C	A	2: 53,004,211 (GRCm39)	T607K	probably damaging	Het
Glod4	T	C	11: 76,125,297 (GRCm39)	Y135C	probably damaging	Het
Gm10912	A	G	2: 103,896,961 (GRCm39)	I33M	possibly damaging	Het
Gm5592	T	C	7: 40,865,036 (GRCm39)		probably benign	Het
Gria4	A	G	9: 4,456,122 (GRCm39)	L726P	probably damaging	Het
H2-M10.4	T	C	17: 36,771,518 (GRCm39)	E220G	probably benign	Het
Itga1	T	G	13: 115,103,126 (GRCm39)	N1102H	probably benign	Het
Itpk1	A	G	12: 102,554,812 (GRCm39)	I6T	probably damaging	Het
Kcnh4	T	C	11: 100,636,148 (GRCm39)	D833G	probably damaging	Het
Kdm1a	T	C	4: 136,296,012 (GRCm39)		probably null	Het
Kif24	G	A	4: 41,428,670 (GRCm39)	Q97*	probably null	Het
Klhl2	T	C	8: 65,202,762 (GRCm39)	I479V	probably benign	Het
Large1	T	C	8: 73,578,828 (GRCm39)	Y459C	probably damaging	Het
Lcn8	T	G	2: 25,545,509 (GRCm39)	L169R	probably damaging	Het
Loxl3	T	G	6: 83,014,492 (GRCm39)	S133R	probably damaging	Het
Lyzl4	A	G	9: 121,413,529 (GRCm39)	Y4H	unknown	Het
Marchf7	A	G	2: 60,071,331 (GRCm39)	K612E	probably damaging	Het
Mreg	C	T	1: 72,231,359 (GRCm39)	G33D	probably benign	Het
Ms4a6c	A	C	19: 11,457,863 (GRCm39)		probably benign	Het
Nrbf2	G	A	10: 67,103,299 (GRCm39)	S268F	possibly damaging	Het
Oog4	T	A	4: 143,164,293 (GRCm39)	I341F	probably benign	Het
Or4k5	A	G	14: 50,386,220 (GRCm39)	V37A	probably benign	Het
Or5h26	A	G	16: 58,988,482 (GRCm39)	L8P	probably benign	Het
Or5h27	C	T	16: 59,006,091 (GRCm39)	V252I	unknown	Het
Or5l14	A	T	2: 87,792,946 (GRCm39)	C97S	probably damaging	Het
Pcdhb5	G	A	18: 37,454,523 (GRCm39)	R301Q	probably benign	Het
Podn	T	C	4: 107,878,910 (GRCm39)	K174R	possibly damaging	Het
Ppp2r1a	C	G	17: 21,179,675 (GRCm39)	H112D	possibly damaging	Het
Prmt5	A	G	14: 54,752,344 (GRCm39)	F151L	possibly damaging	Het
Ptch1	A	T	13: 63,721,233 (GRCm39)		probably benign	Het
Rgl2	A	G	17: 34,151,012 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,675,008 (GRCm39)	I3373N	probably damaging	Het
Scap	A	G	9: 110,213,664 (GRCm39)	N1209S	probably benign	Het
Sin3b	T	C	8: 73,457,793 (GRCm39)	S170P	probably damaging	Het
Slc22a4	A	T	11: 53,886,854 (GRCm39)	I296N	probably damaging	Het
Slco1a8	T	A	6: 141,940,008 (GRCm39)	N145I	probably damaging	Het
Slco2a1	T	C	9: 102,923,989 (GRCm39)	S68P	probably damaging	Het
Snx8	A	G	5: 140,339,235 (GRCm39)	C161R	probably benign	Het
Spryd3	C	T	15: 102,026,630 (GRCm39)	C347Y	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Strn3	T	C	12: 51,676,279 (GRCm39)	T333A	probably benign	Het
Swt1	T	A	1: 151,286,921 (GRCm39)	E190D	probably benign	Het
Tchh	A	T	3: 93,352,644 (GRCm39)	I695F	unknown	Het
Tfap4	G	A	16: 4,363,493 (GRCm39)	S314L	possibly damaging	Het
Tigd3	G	T	19: 5,941,894 (GRCm39)	T412K	probably benign	Het
Tmem184b	T	A	15: 79,249,681 (GRCm39)		probably null	Het
Trpa1	T	C	1: 14,968,359 (GRCm39)	D469G	probably benign	Het
Tssk1	T	C	16: 17,712,565 (GRCm39)	F117L	probably damaging	Het
Tuba3b	T	A	6: 145,565,471 (GRCm39)	M313K	probably damaging	Het
Tubgcp6	T	C	15: 88,993,420 (GRCm39)		probably null	Het
Vav1	A	G	17: 57,608,870 (GRCm39)	K345E	possibly damaging	Het
Zdhhc4	G	A	5: 143,310,641 (GRCm39)	R64C	probably damaging	Het
Zfp280d	T	A	9: 72,269,614 (GRCm39)	L892*	probably null	Het
Zfp46	T	A	4: 136,014,528 (GRCm39)	M3K	probably damaging	Het
Zfp607b	C	A	7: 27,401,841 (GRCm39)	P99Q	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp990	T	A	4: 145,264,613 (GRCm39)	I537N	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
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
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'- TGAAGAACACATCTAGCTCTCC -3'
(R):5'- CCCATTTGGTTATTGGAGAGGAGC -3'

Sequencing Primer
(F):5'- CCCATTAATTCAGCTACAGAATTAGG -3'
(R):5'- GCAAAGGCTACATAGAAACTTACAG -3'

Posted On

2017-02-28