|Institutional Source||Beutler Lab|
|Gene Name||receptor (calcitonin) activity modifying protein 3|
|Is this an essential gene?||Probably non essential (E-score: 0.078)|
|Stock #||R1183 (G1)|
|Chromosomal Location||6658521-6677475 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 6674867 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 54 (K54E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047518 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045374]|
|Predicted Effect||possibly damaging
AA Change: K54E
PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: K54E
|Predicted Effect||noncoding transcript
|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 RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) protein, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased body weight at 6 months of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ramp3||
(F):5'- TGGGAGGGGCTATGCTTACATCAG -3'
(R):5'- ACAGCTCTATGTGGCTAAGCCAAAC -3'
(F):5'- GCTATGCTTACATCAGCAAGG -3'
(R):5'- CAGCTCAGAGCAGTGTGTG -3'