Incidental Mutation 'R5180:Ramp3'
ID399746
Institutional Source Beutler Lab
Gene Symbol Ramp3
Ensembl Gene ENSMUSG00000041046
Gene Namereceptor (calcitonin) activity modifying protein 3
Synonyms
MMRRC Submission 042760-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #R5180 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location6658521-6677475 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 6658619 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 16 (L16Q)
Ref Sequence ENSEMBL: ENSMUSP00000047518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045374]
Predicted Effect unknown
Transcript: ENSMUST00000045374
AA Change: L16Q
SMART Domains Protein: ENSMUSP00000047518
Gene: ENSMUSG00000041046
AA Change: L16Q

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:RAMP 36 145 1.3e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143152
Meta Mutation Damage Score 0.1048 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (60/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,466,510 T4091A probably benign Het
Adgrv1 G A 13: 81,283,416 probably benign Het
Ago3 C T 4: 126,367,751 V435I probably benign Het
Akap10 C T 11: 61,916,189 A72T probably damaging Het
Ampd2 G T 3: 108,079,042 Q273K probably benign Het
Ankrd35 C A 3: 96,680,473 H109Q probably damaging Het
Atpaf2 A G 11: 60,405,869 L153S possibly damaging Het
C1qtnf7 G A 5: 43,615,814 V152M probably benign Het
Ccnb1 C G 13: 100,781,775 Q121H possibly damaging Het
Cep295 C T 9: 15,332,120 C1680Y probably benign Het
Cyp4f15 A T 17: 32,690,740 I104F probably benign Het
Daam1 A G 12: 71,947,125 N434S unknown Het
Dab2ip C T 2: 35,720,491 P782L possibly damaging Het
Dhx34 C A 7: 16,205,480 G663* probably null Het
Dnah7a T C 1: 53,423,287 D3715G probably damaging Het
Dnajc11 C T 4: 151,969,939 R201C probably damaging Het
Erf A T 7: 25,246,265 I27N probably damaging Het
Fbxl7 T A 15: 26,543,421 Y380F probably damaging Het
Gm3336 A G 8: 70,720,461 probably benign Het
Gm4787 G C 12: 81,377,830 T518S probably benign Het
Gm5134 T C 10: 75,976,366 Y152H probably damaging Het
Gm6899 A G 11: 26,593,795 probably benign Het
Gna11 T C 10: 81,544,873 K19E probably benign Het
Gpr15 C A 16: 58,717,885 L280F probably benign Het
Grhl3 T A 4: 135,559,104 K89* probably null Het
Ino80d C A 1: 63,086,329 probably benign Het
Irak3 T G 10: 120,145,782 K406T probably damaging Het
Kif15 G A 9: 122,999,210 C634Y probably damaging Het
Lin9 T A 1: 180,669,198 L351I probably benign Het
Macrod2 A T 2: 140,395,716 E14V probably damaging Het
Matn3 T A 12: 8,955,374 D261E probably benign Het
Mdga1 A T 17: 29,857,736 probably benign Het
Natd1 G T 11: 60,913,656 R24S probably benign Het
Ncapd3 T A 9: 27,051,645 D415E possibly damaging Het
Olfr1453 A T 19: 13,027,412 S306T probably benign Het
Parp9 T A 16: 35,953,736 Y81* probably null Het
Pde4d A G 13: 109,740,473 N73S probably benign Het
Pigb A T 9: 73,034,590 I129N probably damaging Het
Plxnb1 C A 9: 109,111,693 probably null Het
Ppfibp1 G T 6: 147,027,321 R813L probably damaging Het
Slc35a4 T C 18: 36,682,635 S173P probably benign Het
Slc41a1 T C 1: 131,844,377 V415A probably damaging Het
Smarcc2 CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 10: 128,487,362 probably benign Het
Snph G A 2: 151,600,387 R43W probably benign Het
Sptan1 A T 2: 29,993,724 probably benign Het
Supt20 C A 3: 54,709,085 H254Q probably benign Het
Taar7a A G 10: 23,993,148 C112R probably damaging Het
Tbc1d4 T C 14: 101,507,572 Y206C probably damaging Het
Tecta A G 9: 42,337,208 V1961A probably damaging Het
Tgfbr1 T A 4: 47,383,948 Y30* probably null Het
Tmem71 C T 15: 66,555,214 S44N probably benign Het
Tnfrsf1b C A 4: 145,227,497 C94F probably damaging Het
Ttn A G 2: 76,749,396 Y23718H probably damaging Het
Ube2i T C 17: 25,265,294 probably benign Het
Vmn2r16 G T 5: 109,330,525 V49F probably benign Het
Vps45 A G 3: 96,046,371 I223T possibly damaging Het
Zfp955a T C 17: 33,242,618 Y180C probably benign Het
Zhx1 C G 15: 58,054,074 G259R probably damaging Het
Zscan18 T A 7: 12,775,289 probably benign Het
Other mutations in Ramp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0730:Ramp3 UTSW 11 6676476 splice site probably benign
R1183:Ramp3 UTSW 11 6674867 missense possibly damaging 0.92
R2375:Ramp3 UTSW 11 6676643 missense probably benign 0.43
R4756:Ramp3 UTSW 11 6674843 missense probably benign 0.16
R4836:Ramp3 UTSW 11 6674761 critical splice acceptor site probably null
R5312:Ramp3 UTSW 11 6674888 missense probably damaging 1.00
R6872:Ramp3 UTSW 11 6674768 missense possibly damaging 0.90
R8511:Ramp3 UTSW 11 6676709 missense probably benign 0.00
Z1177:Ramp3 UTSW 11 6676519 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTGAGAATTCTAGGCAACGG -3'
(R):5'- CTCAGCTCTTCTAAGGTTGGAGG -3'

Sequencing Primer
(F):5'- TTCTAGGCAACGGAGGGAGTC -3'
(R):5'- TTGGAGGAGTTATGAAGACCCTCC -3'
Posted On2016-07-06