|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5256 (G1)|
|Chromosomal Location||130906495-131030333 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 130946019 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 247 (D247G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028781 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028781]|
|Predicted Effect||probably benign
AA Change: D247G
PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: D247G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0997|
|Coding Region Coverage||
|Validation Efficiency||97% (95/98)|
FUNCTION: This gene encodes a widely expressed transmembrane glycoprotein that plays important roles in diverse physiological processes such as regulation of hair pigmentation, monocyte-T cell interaction and control of energy homeostasis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Certain mutations in this gene are responsible for the mahogany mouse phenotype of dark brown or black coat on a normally agouti background. Mice with loss-of-function mutations in this gene exhibit black coat color, tremor, adiposity, higher basal metabolic rate, juvenile-onset hypomyelination and age-dependent spongiform neurodegeneration of the central nervous system. [provided by RefSeq, Jul 2016]
PHENOTYPE: Some mutant homozygotes exhibit decreases in phaeomelanin synthesis, body weight, and adiposity; increases in locomotion, and abnormal myelination and vacuolation of the central nervous system resulting in tremors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atrn||
(F):5'- TTCATTACTTGAGCCTGGGG -3'
(R):5'- TTTGAAGGGCAGCTCCTACC -3'
(F):5'- GCTCTAGCTACACAGAGCTCTG -3'
(R):5'- CTACCCTGCCAGTGAGGAAAG -3'