Incidental Mutation 'RF027:Loricrin'
ID 604185
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) question?
Stock # RF027 (G1)
Quality Score 129.467
Status Not validated
Chromosome 3
Chromosomal Location 91987578-91990447 bp(-) (GRCm39)
Type of Mutation small deletion (2 aa in frame mutation)
DNA Base Change (assembly) ATAGCCG to A at 91989183 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

DomainStartEndE-ValueType
Pfam:Loricrin 316 438 2.7e-11 PFAM
Pfam:Loricrin 426 486 1.4e-14 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm CCTCCTCCTCCTC CCTCCTCCTCCTCTCCTCCTCCTC 7: 80,162,662 (GRCm39) probably null Het
Cacna1f GAG GAGTAG X: 7,486,293 (GRCm39) probably null Het
Ccdc170 ACC ACCTCC 10: 4,511,026 (GRCm39) probably benign Het
Cul9 CTTC CTTCTTC 17: 46,811,774 (GRCm39) probably benign Het
Cyb5r4 AGACACACTGCCCAGG AGACACACTGCCCAGGTATGTGACCGACACACTGCCCAGG 9: 86,922,484 (GRCm39) probably benign Het
Dmkn GTGGA GTGGACGTGGTGGAAGTGGTGGAAGTGTTGGA 7: 30,466,619 (GRCm39) probably benign Het
Dnaaf9 CTC CTCGTC 2: 130,612,664 (GRCm39) probably benign Het
Dnah8 CCCTCCCG C 17: 30,854,450 (GRCm39) probably null Het
Fam171b AGCAGC AGCAGCTGCAGC 2: 83,643,220 (GRCm39) probably benign Het
Flywch1 TCACTCACCCACTCCTGGTGT TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT 17: 23,981,132 (GRCm39) probably null Het
Ifi208 AGATG AG 1: 173,505,262 (GRCm39) probably benign Het
Irag2 TG TGAGCACATGG 6: 145,119,516 (GRCm39) probably benign Het
Kri1 CTCCTCCT C 9: 21,192,364 (GRCm39) probably null Het
Krtap28-10 CACAGC CACAGCCACAGCCACAACAGC 1: 83,020,006 (GRCm39) probably benign Het
Med12l AGC AGCGGC 3: 59,183,388 (GRCm39) probably benign Het
Med12l CAG CAGAAG 3: 59,183,402 (GRCm39) probably benign Het
Mn1 CAG CAGAAG 5: 111,567,571 (GRCm39) probably benign Het
Mnd1 G A 3: 84,041,366 (GRCm39) L79F possibly damaging Het
Nolc1 AGCAGCAGC AGCAGCAGCGGCAGCAGC 19: 46,069,802 (GRCm39) probably benign Het
Pdcd11 GGAGGAG GG 19: 47,101,888 (GRCm39) probably null Het
Rbfox2 G T 15: 77,016,973 (GRCm39) Q134K possibly damaging Het
Tcof1 AGC AGCTGC 18: 60,968,808 (GRCm39) probably benign Het
Tent4a GACA G 13: 69,681,973 (GRCm39) probably benign Het
Ttf2 TTCT TTCTTCT 3: 100,870,473 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null Het
Zfhx3 CAGCAGCA CAGCAGCAAGAGCAGCA 8: 109,682,730 (GRCm39) probably benign Het
Zfp384 CCCAGGC CCCAGGCCCAGGACCAGGC 6: 125,013,453 (GRCm39) probably benign Het
Other mutations in Loricrin
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4589:Loricrin UTSW 3 91,989,201 (GRCm39) frame shift probably null
R2932:Loricrin UTSW 3 91,989,185 (GRCm39) small deletion probably benign
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
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'- ACCTCCGGAGTACTTGACG -3'
(R):5'- GCATCTGCCACCTTCACAGC -3'

Sequencing Primer
(F):5'- GAGTACTTGACGCCCCCAC -3'
(R):5'- AGCGTCCTCTTGCTGCTG -3'
Posted On 2019-12-04