|Institutional Source||Beutler Lab|
|Gene Name||fatty acid desaturase 2|
|Is this an essential gene?||Probably essential (E-score: 0.759)|
|Stock #||R5872 (G1)|
|Chromosomal Location||10064164-10101503 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 10082633 bp|
|Amino Acid Change||Isoleucine to Valine at position 226 (I226V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025567 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025567]|
|Predicted Effect||probably benign
AA Change: I226V
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: I226V
|Coding Region Coverage||
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 fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele display absence of long-chain polyunsaturated fatty acids, infertility, arrest of spermiogenesis and folliculogenesis, and impaired platelet function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fads2||
(F):5'- AGCTGGGATAACTTGAGACGAC -3'
(R):5'- ATAGTCTGAGTTCCAGGGACTCC -3'
(F):5'- CGACTAGGAAAGGATTCTTCTGG -3'
(R):5'- CACAAACCCCATGTGTGATG -3'