Incidental Mutation 'R7989:Pphln1'
| ID |
651656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pphln1
|
| Ensembl Gene |
ENSMUSG00000036167 |
| Gene Name |
periphilin 1 |
| Synonyms |
1110063K05Rik, CR, 1600022A19Rik |
| MMRRC Submission |
046030-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7989 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
93296231-93389391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 93386960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 353
(H353N)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000049122
AA Change: H353N
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042762
Gene: ENSMUSG00000036167
AA Change: H353N
| 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 |
possibly damaging
Transcript: ENSMUST00000068457
AA Change: H284N
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000068165
Gene: ENSMUSG00000036167
AA Change: H284N
| 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
AA Change: H265N
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000104879
Gene: ENSMUSG00000036167
AA Change: H265N
| 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
AA Change: H265N
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000131121
Gene: ENSMUSG00000036167
AA Change: H265N
| 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
AA Change: H265N
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,875,278 (GRCm39) |
E631D |
probably benign |
Het |
| Abcc12 |
T |
C |
8: 87,232,108 (GRCm39) |
T1317A |
probably benign |
Het |
| Abcc4 |
T |
C |
14: 118,836,772 (GRCm39) |
Q663R |
probably benign |
Het |
| Arhgef28 |
G |
A |
13: 98,036,243 (GRCm39) |
T1672I |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,677,012 (GRCm39) |
D496E |
probably benign |
Het |
| Dse |
A |
T |
10: 34,029,454 (GRCm39) |
Y545* |
probably null |
Het |
| Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Fam124b |
A |
T |
1: 80,191,311 (GRCm39) |
L24Q |
probably damaging |
Het |
| Fam180a |
A |
T |
6: 35,292,273 (GRCm39) |
N44K |
probably damaging |
Het |
| Gabrg3 |
G |
T |
7: 56,374,389 (GRCm39) |
N392K |
possibly damaging |
Het |
| Gprin2 |
G |
A |
14: 33,916,661 (GRCm39) |
R370* |
probably null |
Het |
| Grhpr |
C |
T |
4: 44,989,008 (GRCm39) |
P275S |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,526,450 (GRCm39) |
Q374R |
probably benign |
Het |
| Igtp |
A |
C |
11: 58,097,205 (GRCm39) |
K125N |
probably damaging |
Het |
| Il17a |
T |
C |
1: 20,802,438 (GRCm39) |
V49A |
possibly damaging |
Het |
| Klhl12 |
T |
C |
1: 134,417,143 (GRCm39) |
S552P |
probably benign |
Het |
| Or4c15 |
T |
C |
2: 88,759,858 (GRCm39) |
D267G |
probably damaging |
Het |
| Or5d45 |
T |
A |
2: 88,153,164 (GRCm39) |
N295I |
probably damaging |
Het |
| Pkd2l1 |
A |
T |
19: 44,142,507 (GRCm39) |
C512S |
probably benign |
Het |
| Plekha7 |
G |
A |
7: 115,757,558 (GRCm39) |
P464L |
probably benign |
Het |
| Plk5 |
A |
G |
10: 80,199,899 (GRCm39) |
R469G |
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,206,166 (GRCm39) |
N341D |
probably damaging |
Het |
| Skp2 |
C |
T |
15: 9,127,979 (GRCm39) |
R129H |
probably benign |
Het |
| Slc5a6 |
A |
G |
5: 31,199,480 (GRCm39) |
|
probably null |
Het |
| Spata31d1b |
C |
T |
13: 59,866,182 (GRCm39) |
P1110L |
possibly damaging |
Het |
| Speer4a2 |
A |
T |
5: 26,290,643 (GRCm39) |
L176Q |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,226,170 (GRCm39) |
S368P |
|
Het |
| Tiam2 |
G |
T |
17: 3,568,524 (GRCm39) |
E1557* |
probably null |
Het |
| Tmem200a |
C |
A |
10: 25,869,955 (GRCm39) |
V105F |
probably benign |
Het |
| Trbv3 |
A |
T |
6: 41,025,576 (GRCm39) |
K55N |
probably benign |
Het |
| Trio |
A |
G |
15: 27,773,021 (GRCm39) |
L1881P |
probably damaging |
Het |
| Unc13a |
G |
A |
8: 72,104,917 (GRCm39) |
R782W |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,925,126 (GRCm39) |
M117K |
|
Het |
| Zfp655 |
T |
A |
5: 145,181,380 (GRCm39) |
C413S |
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 |
|
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 |
|
R8239:Pphln1
|
UTSW |
15 |
93,386,930 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGCAGCTGAGTTCTACCG -3'
(R):5'- AAATACAGGGAGCTGCTCTC -3'
Sequencing Primer
(F):5'- AGCTGAGTTCTACCGGCTCAG -3'
(R):5'- AACTGAATATTATTTTTGGAGGGAGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation