|Institutional Source||Beutler Lab|
|Gene Name||keratin 5|
|Synonyms||Krt2-5, Tfip8, 3300001P10Rik, K5|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4633 (G1)|
|Chromosomal Location||101707070-101712898 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 101711607 bp|
|Amino Acid Change||Aspartic acid to Valine at position 225 (D225V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023709 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023709]|
|Predicted Effect||probably damaging
AA Change: D225V
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: D225V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.8010|
|Coding Region Coverage||
|Validation Efficiency||95% (73/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within the first hour after birth. They have a loose, fragile epidermal layer and abnormal epithelium in parts of the digestive tract. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt5||
(F):5'- GTGTAACGCATGCTGCTAGC -3'
(R):5'- AGCATGTGACAGGTAGCAC -3'
(F):5'- CTGCTAGCCTGTGGAGAAGAC -3'
(R):5'- CATGTGACAGGTAGCACACTAG -3'