Incidental Mutation 'R0294:Pphln1'
ID 26315
Institutional Source Beutler Lab
Gene Symbol Pphln1
Ensembl Gene ENSMUSG00000036167
Gene Name periphilin 1
Synonyms 1110063K05Rik, CR, 1600022A19Rik
MMRRC Submission 038511-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0294 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 93296231-93389391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93318171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 57 (Y57H)
Ref Sequence ENSEMBL: ENSMUSP00000155236 (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: Y27H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042762
Gene: ENSMUSG00000036167
AA Change: Y27H

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000068165
Gene: ENSMUSG00000036167

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Predicted Effect probably damaging
Transcript: ENSMUST00000230385
AA Change: Y57H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 95.4%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
Aadat A G 8: 60,987,642 (GRCm39) E319G possibly damaging Het
Abca13 A G 11: 9,219,122 (GRCm39) probably null Het
Actl7b A T 4: 56,740,848 (GRCm39) L170Q possibly damaging Het
Adam29 C A 8: 56,326,311 (GRCm39) V48L probably benign Het
Aknad1 A G 3: 108,682,508 (GRCm39) Y528C probably damaging Het
Alas1 T A 9: 106,118,455 (GRCm39) K222N probably damaging Het
Aplf A G 6: 87,623,227 (GRCm39) V284A probably benign Het
Atp11a G A 8: 12,877,524 (GRCm39) V317M probably benign Het
Bub3 A G 7: 131,169,953 (GRCm39) E206G possibly damaging Het
Cblb T G 16: 51,956,187 (GRCm39) F263L probably damaging Het
Ces2h T A 8: 105,743,236 (GRCm39) M157K probably benign Het
Cfh A G 1: 140,110,999 (GRCm39) F6L probably benign Het
Chst1 G T 2: 92,443,987 (GRCm39) R153L probably damaging Het
Cimap2 T C 4: 106,470,361 (GRCm39) D232G probably damaging Het
Cntnap5a T A 1: 115,843,046 (GRCm39) N121K probably benign Het
Crybg1 A T 10: 43,862,372 (GRCm39) S1467R probably damaging Het
Cyp2d22 A G 15: 82,258,646 (GRCm39) F72L possibly damaging Het
Dmrt2 C T 19: 25,655,435 (GRCm39) P345S probably damaging Het
Dock8 T C 19: 25,165,714 (GRCm39) I1866T probably damaging Het
Egfem1 A G 3: 29,744,270 (GRCm39) N503S probably damaging Het
Ehbp1 T C 11: 22,045,427 (GRCm39) D774G probably benign Het
Foxp2 C A 6: 15,376,773 (GRCm39) probably benign Het
Gins3 T C 8: 96,364,547 (GRCm39) V99A possibly damaging Het
Grm1 A T 10: 10,956,143 (GRCm39) I47N probably damaging Het
H2aj C G 6: 136,785,602 (GRCm39) R89G probably damaging Het
Hsdl2 T A 4: 59,601,408 (GRCm39) S127T probably benign Het
Il5ra A T 6: 106,689,362 (GRCm39) M410K probably benign Het
Ints7 A G 1: 191,344,003 (GRCm39) S548G possibly damaging Het
Kcnt1 A G 2: 25,778,122 (GRCm39) E80G probably damaging Het
Lgr6 A G 1: 134,915,629 (GRCm39) V373A probably damaging Het
Lgr6 T A 1: 135,032,799 (GRCm39) Q27L unknown Het
Map3k14 T C 11: 103,117,963 (GRCm39) I610V possibly damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Metap1d T A 2: 71,352,889 (GRCm39) H239Q probably benign Het
Mgst2 A G 3: 51,589,251 (GRCm39) Y88C probably damaging Het
Mroh4 T C 15: 74,477,998 (GRCm39) N903D probably benign Het
Nbeal2 T G 9: 110,461,927 (GRCm39) D1476A probably damaging Het
Nlgn1 C A 3: 26,187,625 (GRCm39) A87S probably benign Het
Nln C T 13: 104,189,087 (GRCm39) G295S probably damaging Het
Nnt T A 13: 119,472,803 (GRCm39) Y719F probably benign Het
Nnt T G 13: 119,474,953 (GRCm39) I659L possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or51b17 A T 7: 103,542,137 (GRCm39) H268Q probably benign Het
Or52s6 G A 7: 103,092,291 (GRCm39) T13I possibly damaging Het
Or5p78 A T 7: 108,212,357 (GRCm39) Y281F probably damaging Het
Or9g4 A G 2: 85,505,060 (GRCm39) V145A probably damaging Het
Otogl C T 10: 107,613,089 (GRCm39) C2041Y probably damaging Het
Patj G T 4: 98,385,285 (GRCm39) D300Y probably damaging Het
Pkhd1l1 A T 15: 44,423,831 (GRCm39) E3124D probably benign Het
Plbd2 A G 5: 120,625,514 (GRCm39) probably null Het
Ppp1r16b C T 2: 158,588,523 (GRCm39) T78M probably damaging Het
Prss40 T G 1: 34,595,162 (GRCm39) D224A possibly damaging Het
Senp6 A G 9: 80,021,007 (GRCm39) probably null Het
Shank3 A G 15: 89,416,301 (GRCm39) E666G probably damaging Het
Slc13a1 T A 6: 24,090,779 (GRCm39) I547F possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc22a18 G A 7: 143,046,578 (GRCm39) probably null Het
Slc5a4b A G 10: 75,917,161 (GRCm39) C292R probably damaging Het
Spata31e5 T C 1: 28,817,744 (GRCm39) Q96R probably benign Het
Sphkap T A 1: 83,255,966 (GRCm39) E594D possibly damaging Het
Srpra T A 9: 35,126,811 (GRCm39) M61K probably damaging Het
Trmt10c A T 16: 55,855,240 (GRCm39) Y132N possibly damaging Het
Other mutations in Pphln1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GACCGAACTGTCCTCATTGTCATTAGG -3'
(R):5'- TCACATACTCGGCAATCAACATGACTG -3'

Sequencing Primer
(F):5'- cccatccataggggccag -3'
(R):5'- CGGCAATCAACATGACTGTAATATC -3'
Posted On 2013-04-16