Incidental Mutation 'R2932:Loricrin'
| ID |
254966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loricrin
|
| Ensembl Gene |
ENSMUSG00000043165 |
| Gene Name |
loricrin cornified envelope precursor protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R2932 (G1)
|
| Quality Score |
117 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
91987578-91990447 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
AGCCGCCGCCGCCGCCGCCGCCGCCGCC to AGCCGCCGCCGCCGCCGCCGCCGCC
at 91989185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058150]
|
| AlphaFold |
P18165 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058150
|
| SMART Domains |
Protein: ENSMUSP00000052128
Gene: ENSMUSG00000043165
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Loricrin
|
316 |
438 |
2.7e-11 |
PFAM |
|
Pfam:Loricrin
|
426 |
486 |
1.4e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene are runted at birth, have a translucent skin and skin skin barrier defect. The morphological skin phenotype disappears after 4-5 days. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,597,544 (GRCm39) |
D1259G |
possibly damaging |
Het |
| Arpp21 |
T |
C |
9: 112,008,173 (GRCm39) |
D106G |
probably damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,909,406 (GRCm39) |
S542P |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,612,538 (GRCm39) |
N209S |
probably benign |
Het |
| Ccdc15 |
G |
A |
9: 37,226,954 (GRCm39) |
T327I |
probably benign |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,287,240 (GRCm39) |
S761L |
probably damaging |
Het |
| Lrrc1 |
T |
A |
9: 77,364,721 (GRCm39) |
H153L |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 96,931,935 (GRCm39) |
|
probably benign |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,194 (GRCm39) |
L177S |
probably benign |
Het |
| Mtmr2 |
A |
T |
9: 13,660,413 (GRCm39) |
|
probably benign |
Het |
| Mtnr1b |
A |
T |
9: 15,785,620 (GRCm39) |
V46E |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,103,418 (GRCm39) |
E207G |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,830,430 (GRCm39) |
S137P |
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,824,978 (GRCm39) |
I224V |
possibly damaging |
Het |
| Oas1g |
T |
G |
5: 121,017,206 (GRCm39) |
K283Q |
probably benign |
Het |
| Pex12 |
T |
A |
11: 83,187,049 (GRCm39) |
M300L |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,569,148 (GRCm39) |
V1237A |
possibly damaging |
Het |
| Rc3h2 |
C |
A |
2: 37,268,371 (GRCm39) |
V920F |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
|
| Other mutations in Loricrin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4589:Loricrin
|
UTSW |
3 |
91,989,201 (GRCm39) |
frame shift |
probably null |
|
|
R4677:Loricrin
|
UTSW |
3 |
91,989,050 (GRCm39) |
missense |
unknown |
|
|
R5454:Loricrin
|
UTSW |
3 |
91,988,789 (GRCm39) |
missense |
unknown |
|
|
R5851:Loricrin
|
UTSW |
3 |
91,987,846 (GRCm39) |
missense |
unknown |
|
|
R6267:Loricrin
|
UTSW |
3 |
91,989,119 (GRCm39) |
nonsense |
probably null |
|
|
R7219:Loricrin
|
UTSW |
3 |
91,988,705 (GRCm39) |
missense |
unknown |
|
|
R7430:Loricrin
|
UTSW |
3 |
91,989,206 (GRCm39) |
missense |
unknown |
|
|
R7780:Loricrin
|
UTSW |
3 |
91,988,460 (GRCm39) |
nonsense |
probably null |
|
|
R8983:Loricrin
|
UTSW |
3 |
91,988,446 (GRCm39) |
missense |
unknown |
|
|
RF027:Loricrin
|
UTSW |
3 |
91,989,183 (GRCm39) |
small deletion |
probably benign |
|
|
RF028:Loricrin
|
UTSW |
3 |
91,989,206 (GRCm39) |
frame shift |
probably null |
|
|
RF031:Loricrin
|
UTSW |
3 |
91,989,183 (GRCm39) |
small deletion |
probably benign |
|
|
X0057:Loricrin
|
UTSW |
3 |
91,989,185 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACCTCCGGAGTACTTGAC -3'
(R):5'- ATCTGCCACCTTCACAGCG -3'
Sequencing Primer
(F):5'- GAGTACTTGACGCCCCCAC -3'
(R):5'- AGCGTCCTCTTGCTGCTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation