Incidental Mutation 'IGL01651:Pphln1'
| ID |
102843 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pphln1
|
| Ensembl Gene |
ENSMUSG00000036167 |
| Gene Name |
periphilin 1 |
| Synonyms |
1110063K05Rik, CR, 1600022A19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01651
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
93296231-93389391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 93386864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 321
(Q321K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049122]
[ENSMUST00000068457]
[ENSMUST00000109256]
[ENSMUST00000165935]
[ENSMUST00000229071]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049122
AA Change: Q321K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000042762
Gene: ENSMUSG00000036167
AA Change: Q321K
| 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: Q252K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068165
Gene: ENSMUSG00000036167
AA Change: Q252K
| 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 damaging
Transcript: ENSMUST00000109256
AA Change: Q233K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104879
Gene: ENSMUSG00000036167
AA Change: Q233K
| 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 damaging
Transcript: ENSMUST00000165935
AA Change: Q233K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131121
Gene: ENSMUSG00000036167
AA Change: Q233K
| 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 damaging
Transcript: ENSMUST00000229071
AA Change: Q233K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
T |
C |
2: 181,136,531 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,633,458 (GRCm39) |
V2980E |
probably benign |
Het |
| Anxa7 |
A |
G |
14: 20,506,569 (GRCm39) |
L457P |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,784,856 (GRCm39) |
D310G |
probably damaging |
Het |
| Btbd9 |
T |
C |
17: 30,439,391 (GRCm39) |
S599G |
unknown |
Het |
| Col25a1 |
G |
A |
3: 130,360,134 (GRCm39) |
M487I |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,138,855 (GRCm39) |
F885I |
probably benign |
Het |
| Foxi3 |
T |
C |
6: 70,933,975 (GRCm39) |
V154A |
probably damaging |
Het |
| Golga3 |
A |
C |
5: 110,340,771 (GRCm39) |
|
probably null |
Het |
| Igdcc4 |
T |
C |
9: 65,031,394 (GRCm39) |
V491A |
possibly damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,564,628 (GRCm39) |
D877V |
possibly damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,351,123 (GRCm39) |
D162G |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,608,727 (GRCm39) |
|
probably null |
Het |
| Ndufv2 |
T |
C |
17: 66,396,466 (GRCm39) |
N47S |
possibly damaging |
Het |
| Npepl1 |
T |
A |
2: 173,956,181 (GRCm39) |
|
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,907 (GRCm39) |
D199V |
probably damaging |
Het |
| Otud7b |
C |
T |
3: 96,060,807 (GRCm39) |
Q441* |
probably null |
Het |
| Pard3b |
A |
C |
1: 62,518,963 (GRCm39) |
|
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,494,495 (GRCm39) |
E143G |
probably damaging |
Het |
| Rnf121 |
A |
G |
7: 101,691,862 (GRCm39) |
S2P |
probably damaging |
Het |
| Slc25a42 |
G |
A |
8: 70,639,250 (GRCm39) |
R276C |
possibly damaging |
Het |
| Smgc |
T |
C |
15: 91,743,986 (GRCm39) |
|
probably benign |
Het |
| Tdrd5 |
C |
T |
1: 156,129,397 (GRCm39) |
M104I |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,027,632 (GRCm39) |
N457K |
probably benign |
Het |
| Zfp474 |
T |
C |
18: 52,771,655 (GRCm39) |
S103P |
probably damaging |
Het |
| Zfp53 |
A |
G |
17: 21,728,348 (GRCm39) |
N127S |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation