Incidental Mutation 'R2375:Ramp3'
ID 248268
Institutional Source Beutler Lab
Gene Symbol Ramp3
Ensembl Gene ENSMUSG00000041046
Gene Name receptor (calcitonin) activity modifying protein 3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R2375 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 6608521-6627475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6626643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 117 (V117L)
Ref Sequence ENSEMBL: ENSMUSP00000047518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045374]
AlphaFold Q9WUP1
Predicted Effect probably benign
Transcript: ENSMUST00000045374
AA Change: V117L

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047518
Gene: ENSMUSG00000041046
AA Change: V117L

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:RAMP 36 145 1.3e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139540
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype 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
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Arhgef7 A G 8: 11,864,995 (GRCm39) N369S probably benign Het
Celsr3 G A 9: 108,719,751 (GRCm39) R2450H probably benign Het
Cps1 G A 1: 67,257,019 (GRCm39) M1312I probably benign Het
Fbn2 A C 18: 58,169,038 (GRCm39) I2247S probably damaging Het
Gtf2ird2 T A 5: 134,245,977 (GRCm39) L745Q probably benign Het
Lrr1 A G 12: 69,221,697 (GRCm39) T280A probably benign Het
Mpig6b C T 17: 35,283,359 (GRCm39) M226I probably benign Het
Myo1a A G 10: 127,541,159 (GRCm39) D12G probably damaging Het
Odr4 A G 1: 150,265,985 (GRCm39) probably null Het
Or6c1 A G 10: 129,518,032 (GRCm39) F192S probably benign Het
Orc5 A G 5: 22,751,550 (GRCm39) L71P probably damaging Het
Phc2 T C 4: 128,616,818 (GRCm39) S364P probably benign Het
Rpap1 C A 2: 119,600,888 (GRCm39) W836L possibly damaging Het
Syt13 G A 2: 92,776,496 (GRCm39) G261D probably benign Het
Taf6 A T 5: 138,180,463 (GRCm39) Y300* probably null Het
Thsd7a T C 6: 12,337,361 (GRCm39) S1219G probably damaging Het
Tmco3 T C 8: 13,342,059 (GRCm39) F111S possibly damaging Het
Upk1b C T 16: 38,607,490 (GRCm39) G79E probably damaging Het
Zc3h7b G A 15: 81,676,703 (GRCm39) V773M probably benign Het
Zfp655 A G 5: 145,181,206 (GRCm39) T355A probably benign Het
Other mutations in Ramp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0730:Ramp3 UTSW 11 6,626,476 (GRCm39) splice site probably benign
R1183:Ramp3 UTSW 11 6,624,867 (GRCm39) missense possibly damaging 0.92
R4756:Ramp3 UTSW 11 6,624,843 (GRCm39) missense probably benign 0.16
R4836:Ramp3 UTSW 11 6,624,761 (GRCm39) critical splice acceptor site probably null
R5180:Ramp3 UTSW 11 6,608,619 (GRCm39) missense unknown
R5312:Ramp3 UTSW 11 6,624,888 (GRCm39) missense probably damaging 1.00
R6872:Ramp3 UTSW 11 6,624,768 (GRCm39) missense possibly damaging 0.90
R8511:Ramp3 UTSW 11 6,626,709 (GRCm39) missense probably benign 0.00
Z1177:Ramp3 UTSW 11 6,626,519 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGGAGAGCTATGTTTCTGCCTC -3'
(R):5'- TCAGGAGGACTTTGGCATGG -3'

Sequencing Primer
(F):5'- GCCTCTGCAGGTATTATGAAAGC -3'
(R):5'- CCAGACAGAAGCCGAGTCTG -3'
Posted On 2014-11-11