Mutagenetix > Incidental Mutation

Incidental Mutation 'R5034:Pphln1'

389469

Institutional Source

Beutler Lab

Gene Symbol

Pphln1

Ensembl Gene

ENSMUSG00000036167

Gene Name

periphilin 1

Synonyms

1110063K05Rik, CR, 1600022A19Rik

MMRRC Submission

042625-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93296231-93389391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93350010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 120 (V120A)

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: V189A

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

SMART Domains

Protein: ENSMUSP00000042762
Gene: ENSMUSG00000036167
AA Change: V189A

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 benign
Transcript: ENSMUST00000068457
AA Change: V120A

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

SMART Domains

Protein: ENSMUSP00000068165
Gene: ENSMUSG00000036167
AA Change: V120A

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

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 benign
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 benign
Transcript: ENSMUST00000229071

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,136,090 (GRCm39)	S482T	probably benign	Het
Adam6b	G	T	12: 113,454,547 (GRCm39)	G455C	probably damaging	Het
Ahsg	C	A	16: 22,717,650 (GRCm39)	P237Q	probably damaging	Het
Asxl2	A	G	12: 3,552,193 (GRCm39)	S1312G	probably damaging	Het
Brinp3	C	T	1: 146,603,458 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,564,649 (GRCm39)	H1677R	probably damaging	Het
Cops7a	A	G	6: 124,939,583 (GRCm39)		probably null	Het
Csmd2	G	A	4: 127,952,901 (GRCm39)	A117T	probably damaging	Het
Csmd3	T	C	15: 47,492,683 (GRCm39)	R3153G	possibly damaging	Het
Dctn4	A	G	18: 60,685,956 (GRCm39)	N342D	probably benign	Het
Dennd5a	A	T	7: 109,499,004 (GRCm39)	I953N	probably damaging	Het
Dmwd	T	C	7: 18,814,219 (GRCm39)	S290P	probably damaging	Het
Dsc1	T	A	18: 20,228,084 (GRCm39)	Y424F	possibly damaging	Het
Far2	C	A	6: 148,074,939 (GRCm39)	L391M	probably benign	Het
Foxd3	G	A	4: 99,545,327 (GRCm39)	G156S	probably damaging	Het
Galk2	A	T	2: 125,771,495 (GRCm39)	E173D	probably benign	Het
Hcar1	T	C	5: 124,017,732 (GRCm39)		probably benign	Het
Hsd17b11	C	T	5: 104,166,087 (GRCm39)	V91M	possibly damaging	Het
Ighv1-77	C	T	12: 115,825,494 (GRCm39)	C115Y	probably damaging	Het
Ighv9-2	A	G	12: 114,073,025 (GRCm39)	F9S	probably damaging	Het
Kdm6b	A	G	11: 69,292,736 (GRCm39)		probably benign	Het
Kif21a	T	A	15: 90,852,561 (GRCm39)	R890W	probably null	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Magel2	A	T	7: 62,029,616 (GRCm39)	H840L	unknown	Het
Mrgpra4	A	G	7: 47,631,317 (GRCm39)	F95L	probably benign	Het
Myo7b	A	G	18: 32,104,440 (GRCm39)	L1436P	probably damaging	Het
Nf1	C	T	11: 79,334,976 (GRCm39)	P943S	probably damaging	Het
Obscn	T	A	11: 58,952,502 (GRCm39)	R4153*	probably null	Het
Oosp2	T	C	19: 11,628,899 (GRCm39)	I67M	probably damaging	Het
Or5m13b	C	A	2: 85,753,891 (GRCm39)	S93Y	probably damaging	Het
Pcdh9	T	A	14: 93,564,285 (GRCm39)	D1023V	probably benign	Het
Pcdhb14	T	C	18: 37,581,859 (GRCm39)	S322P	probably damaging	Het
Pde2a	A	G	7: 101,151,231 (GRCm39)	D285G	probably benign	Het
Pde5a	G	C	3: 122,646,235 (GRCm39)	G809R	probably damaging	Het
Pde5a	G	T	3: 122,646,236 (GRCm39)	G809V	probably damaging	Het
Rictor	T	C	15: 6,797,576 (GRCm39)	S311P	probably damaging	Het
Rilpl1	T	C	5: 124,631,887 (GRCm39)	D153G	probably damaging	Het
Rmdn3	G	T	2: 118,978,058 (GRCm39)	A181E	probably damaging	Het
Rnf213	G	A	11: 119,301,633 (GRCm39)	V369M	probably damaging	Het
Scyl1	T	A	19: 5,810,022 (GRCm39)	R601S	probably benign	Het
Sdcbp	G	A	4: 6,393,118 (GRCm39)		probably null	Het
Septin8	A	G	11: 53,425,265 (GRCm39)	T53A	probably damaging	Het
Sfpq	A	G	4: 126,917,462 (GRCm39)		probably benign	Het
Slc35b3	A	G	13: 39,127,134 (GRCm39)	Y163H	probably damaging	Het
Sra1	A	G	18: 36,812,048 (GRCm39)		probably null	Het
Sspo	A	T	6: 48,457,757 (GRCm39)	N3231Y	possibly damaging	Het
Tcf3	A	G	10: 80,253,377 (GRCm39)	V218A	possibly damaging	Het
Tgm3	T	C	2: 129,879,404 (GRCm39)	V332A	possibly damaging	Het
Tmprss11f	C	T	5: 86,739,243 (GRCm39)		probably benign	Het
Trbv4	A	G	6: 41,036,624 (GRCm39)	T50A	probably benign	Het
Trdv2-2	C	A	14: 54,198,882 (GRCm39)	Y57*	probably null	Het
Trim50	T	C	5: 135,396,147 (GRCm39)	V365A	possibly damaging	Het
Ubash3b	T	C	9: 40,941,036 (GRCm39)	Q245R	probably benign	Het
Ulk3	T	A	9: 57,501,047 (GRCm39)	V338E	possibly damaging	Het
Usf3	A	C	16: 44,036,762 (GRCm39)	K414T	probably damaging	Het
Usp48	C	T	4: 137,334,068 (GRCm39)	R161*	probably null	Het
Vps18	A	T	2: 119,123,787 (GRCm39)	D238V	probably benign	Het
Vps35l	T	C	7: 118,390,611 (GRCm39)	V368A	probably damaging	Het
Zfp354c	T	C	11: 50,705,866 (GRCm39)	E403G	probably benign	Het
Zscan18	A	G	7: 12,508,072 (GRCm39)	V476A	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
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'- GGAGCCAGTGCAGTATGTTC -3'
(R):5'- GACAGCTGTATTGCTATCCAACC -3'

Sequencing Primer
(F):5'- AGCCAGTGCAGTATGTTCTGTCC -3'
(R):5'- TATCCAACCTTGCCGACAGTGG -3'

Posted On

2016-06-06