|Institutional Source||Beutler Lab|
|Gene Name||Fras1 related extracellular matrix protein 2|
|Synonyms||my, ne, 6030440P17Rik, b2b1562Clo, 8430406N05Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5268 (G1)|
|Chromosomal Location||53513938-53657355 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 53653154 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Phenylalanine at position 1311 (I1311F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000088670 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000091137]|
|AlphaFold||no structure available at present|
AA Change: I1311F
PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: I1311F
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Frem2||
(F):5'- GAATCAAGTTCCTGTCCACTTCG -3'
(R):5'- ACAGTGTTGGTTGAAAGCTTCAC -3'
(F):5'- CGTCCTGGGTAAAATTCATGCCTAG -3'
(R):5'- GTTGAAAGCTTCACCCTGGATCAG -3'