|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2336 (G1)|
|Chromosomal Location||130906495-131030333 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 130957954 bp|
|Amino Acid Change||Threonine to Isoleucine at position 417 (T417I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028781 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028781]|
|Predicted Effect||probably damaging
AA Change: T417I
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: T417I
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1581|
|Coding Region Coverage||
|Validation Efficiency||100% (38/38)|
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'- GAGATTGTGAACCACTCATTGTTG -3'
(R):5'- AGTCATATTCCTGCACAACGC -3'
(F):5'- CATCAGAACTGGTGGCTGTTAGC -3'
(R):5'- GCACAACGCTTATATATCCATAGAG -3'