Incidental Mutation 'IGL00338:Pphln1'
ID4053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pphln1
Ensembl Gene ENSMUSG00000036167
Gene Nameperiphilin 1
SynonymsCR, 1600022A19Rik, 1110063K05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00338
Quality Score
Status
Chromosome15
Chromosomal Location93398350-93491510 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93465210 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 306 (K306E)
Ref Sequence ENSEMBL: ENSMUSP00000042762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049122] [ENSMUST00000068457] [ENSMUST00000109256] [ENSMUST00000165935] [ENSMUST00000229071]
Predicted Effect probably damaging
Transcript: ENSMUST00000049122
AA Change: K306E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042762
Gene: ENSMUSG00000036167
AA Change: K306E

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 damaging
Transcript: ENSMUST00000068457
AA Change: K237E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068165
Gene: ENSMUSG00000036167
AA Change: K237E

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 damaging
Transcript: ENSMUST00000109256
AA Change: K218E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104879
Gene: ENSMUSG00000036167
AA Change: K218E

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 damaging
Transcript: ENSMUST00000165935
AA Change: K218E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131121
Gene: ENSMUSG00000036167
AA Change: K218E

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 damaging
Transcript: ENSMUST00000229071
AA Change: K218E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 A G 5: 135,011,985 D217G probably benign Het
Ankar T A 1: 72,690,131 Y285F probably damaging Het
Ano8 C A 8: 71,484,258 probably benign Het
Bche A G 3: 73,701,307 V262A probably benign Het
Car13 T C 3: 14,656,904 probably benign Het
Cd244 T A 1: 171,574,370 probably null Het
Cfap157 T C 2: 32,781,383 D137G probably damaging Het
Cobl T C 11: 12,375,813 R119G possibly damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gp2 A G 7: 119,454,390 M116T probably damaging Het
Gp5 C A 16: 30,308,822 A345S probably benign Het
Gphn A T 12: 78,504,632 I285F probably damaging Het
Heatr5b A G 17: 78,803,434 V995A probably damaging Het
Hecw2 T C 1: 53,827,881 probably benign Het
Hydin C A 8: 110,569,802 N3654K possibly damaging Het
Inpp5b A G 4: 124,784,375 Y440C possibly damaging Het
Olfr1256 A T 2: 89,835,458 Y162* probably null Het
Rnf26 A C 9: 44,112,859 S31A probably benign Het
Ros1 A T 10: 52,125,811 S1072T probably benign Het
Skiv2l A G 17: 34,846,667 W304R probably damaging Het
Slc22a14 A G 9: 119,178,513 F277L possibly damaging Het
Slc22a26 A T 19: 7,782,975 L468I probably benign Het
Tchh C T 3: 93,447,644 L1464F unknown Het
Tmem260 C T 14: 48,477,636 T249M probably damaging Het
Ttn A G 2: 76,974,065 S288P probably damaging Het
Usp17lc A G 7: 103,418,941 H481R possibly damaging Het
Vps50 C T 6: 3,602,670 T929M probably benign Het
Zdhhc8 A G 16: 18,225,196 L380P possibly damaging Het
Other mutations in Pphln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Pphln1 APN 15 93489104 missense probably damaging 1.00
IGL01651:Pphln1 APN 15 93488983 missense probably damaging 1.00
IGL03219:Pphln1 APN 15 93465255 splice site probably benign
ANU22:Pphln1 UTSW 15 93489104 missense probably damaging 1.00
R0294:Pphln1 UTSW 15 93420290 missense probably damaging 1.00
R0309:Pphln1 UTSW 15 93441707 missense possibly damaging 0.55
R0645:Pphln1 UTSW 15 93420311 missense possibly damaging 0.80
R1208:Pphln1 UTSW 15 93459729 missense probably damaging 1.00
R1208:Pphln1 UTSW 15 93459729 missense probably damaging 1.00
R1879:Pphln1 UTSW 15 93424046 missense probably damaging 0.99
R1936:Pphln1 UTSW 15 93488987 missense possibly damaging 0.79
R4049:Pphln1 UTSW 15 93465106 missense probably damaging 0.99
R5034:Pphln1 UTSW 15 93452129 missense probably benign
R5472:Pphln1 UTSW 15 93488975 missense possibly damaging 0.89
R5945:Pphln1 UTSW 15 93455532 critical splice donor site probably null
R7116:Pphln1 UTSW 15 93455525 missense probably benign 0.10
R8239:Pphln1 UTSW 15 93489049 missense probably benign 0.03
Posted On2012-04-20