Incidental Mutation 'R8511:Ramp3'
ID 655884
Institutional Source Beutler Lab
Gene Symbol Ramp3
Ensembl Gene ENSMUSG00000041046
Gene Name receptor (calcitonin) activity modifying protein 3
Synonyms
MMRRC Submission 067888-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R8511 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 6608521-6627475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6626709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 139 (R139C)
Ref Sequence ENSEMBL: ENSMUSP00000047518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045374]
AlphaFold Q9WUP1
Predicted Effect probably benign
Transcript: ENSMUST00000045374
AA Change: R139C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000047518
Gene: ENSMUSG00000041046
AA Change: R139C

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:RAMP 36 145 1.3e-45 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik T C 11: 11,540,056 (GRCm39) H186R unknown Het
6430548M08Rik A G 8: 120,879,301 (GRCm39) N233S probably benign Het
Acan A G 7: 78,747,683 (GRCm39) D818G possibly damaging Het
Adam22 G A 5: 8,184,558 (GRCm39) T478I probably damaging Het
Afg2a A G 3: 37,490,897 (GRCm39) M481V probably damaging Het
Agmo T A 12: 37,294,396 (GRCm39) *115R probably null Het
Ahnak A G 19: 8,989,719 (GRCm39) K3668E unknown Het
Aldh6a1 G A 12: 84,480,745 (GRCm39) T430I possibly damaging Het
Ankrd11 T C 8: 123,626,468 (GRCm39) D17G Het
Apol10b T C 15: 77,469,211 (GRCm39) E322G probably benign Het
Apol10b C G 15: 77,469,210 (GRCm39) E322D probably benign Het
Apol8 C T 15: 77,634,273 (GRCm39) G101E probably benign Het
Arhgef26 A T 3: 62,336,350 (GRCm39) M630L probably damaging Het
Aspm T C 1: 139,385,046 (GRCm39) L230P probably damaging Het
Atg101 T C 15: 101,188,503 (GRCm39) S203P probably damaging Het
Baz2b T A 2: 59,732,158 (GRCm39) T1996S probably benign Het
Brwd1 A T 16: 95,859,938 (GRCm39) M350K probably damaging Het
Cad A G 5: 31,233,165 (GRCm39) K1869R probably benign Het
Caskin1 A T 17: 24,724,910 (GRCm39) I1233F probably benign Het
Ckap5 T A 2: 91,445,492 (GRCm39) L1770I possibly damaging Het
Clip1 T C 5: 123,791,969 (GRCm39) N67S possibly damaging Het
Csmd2 A G 4: 128,262,692 (GRCm39) N626S Het
Cuedc2 C A 19: 46,319,358 (GRCm39) probably null Het
Dmbt1 A T 7: 130,703,742 (GRCm39) N1275Y unknown Het
Dnm3 A G 1: 162,113,611 (GRCm39) V483A possibly damaging Het
Dock9 A T 14: 121,864,801 (GRCm39) H718Q probably benign Het
Dock9 T C 14: 121,918,847 (GRCm39) D50G probably damaging Het
Egfr T G 11: 16,846,949 (GRCm39) I782S probably damaging Het
Elmod1 A T 9: 53,820,095 (GRCm39) F298I probably damaging Het
Enthd1 T C 15: 80,358,428 (GRCm39) Q364R probably damaging Het
Fat2 T A 11: 55,200,063 (GRCm39) S1004C probably damaging Het
Fga A T 3: 82,939,064 (GRCm39) K480* probably null Het
Fhod3 A G 18: 25,265,994 (GRCm39) T1561A probably damaging Het
Foxg1 T A 12: 49,431,868 (GRCm39) Y200* probably null Het
Foxj2 C T 6: 122,808,404 (GRCm39) R115* probably null Het
Ggnbp2 C T 11: 84,728,815 (GRCm39) probably null Het
Gpsm2 A G 3: 108,589,399 (GRCm39) S580P probably benign Het
Hectd1 A G 12: 51,834,654 (GRCm39) S870P probably benign Het
Hic2 T A 16: 17,075,874 (GRCm39) N234K possibly damaging Het
Ica1 A G 6: 8,754,726 (GRCm39) F15L probably benign Het
Immp1l G A 2: 105,761,100 (GRCm39) R3H probably benign Het
Iqca1l T A 5: 24,750,906 (GRCm39) H559L possibly damaging Het
Jak3 T A 8: 72,138,194 (GRCm39) Y882N probably damaging Het
Klk1b1 C T 7: 43,619,767 (GRCm39) R109C possibly damaging Het
Luzp1 A G 4: 136,268,650 (GRCm39) D291G probably damaging Het
Map3k19 C T 1: 127,775,155 (GRCm39) E61K possibly damaging Het
Mical3 A G 6: 121,015,513 (GRCm39) I175T possibly damaging Het
Nectin3 G A 16: 46,284,363 (GRCm39) P107L probably damaging Het
Or10d5 A G 9: 39,861,455 (GRCm39) V204A probably benign Het
Pira1 A G 7: 3,742,347 (GRCm39) L60P probably damaging Het
Polr1a C A 6: 71,897,504 (GRCm39) H207N probably benign Het
Prokr2 A G 2: 132,223,422 (GRCm39) V40A probably benign Het
Prtg T C 9: 72,798,156 (GRCm39) probably null Het
Ptprs G A 17: 56,754,440 (GRCm39) T200I probably damaging Het
Scfd2 A G 5: 74,372,949 (GRCm39) V642A possibly damaging Het
Scn11a T C 9: 119,618,981 (GRCm39) K787R probably damaging Het
Slco3a1 A G 7: 73,952,990 (GRCm39) V523A probably benign Het
Smo A G 6: 29,755,531 (GRCm39) Y401C probably damaging Het
Stmn2 A G 3: 8,574,615 (GRCm39) probably benign Het
Stra6l G T 4: 45,885,347 (GRCm39) G605V probably benign Het
Syne2 A G 12: 76,055,647 (GRCm39) I4170V probably benign Het
Tgm7 T A 2: 120,924,141 (GRCm39) I594F probably damaging Het
Tle2 T C 10: 81,423,830 (GRCm39) L648P probably damaging Het
Tmprss2 G T 16: 97,369,662 (GRCm39) L371I possibly damaging Het
Ttn T C 2: 76,579,866 (GRCm39) R23676G probably damaging Het
Tvp23b T C 11: 62,774,563 (GRCm39) I69T possibly damaging Het
Vmn2r66 A T 7: 84,656,026 (GRCm39) I330N probably damaging Het
Vmn2r99 A T 17: 19,614,443 (GRCm39) D721V probably damaging Het
Zan A T 5: 137,445,108 (GRCm39) V1717E unknown Het
Zmiz2 C T 11: 6,353,190 (GRCm39) H658Y probably damaging 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
R2375:Ramp3 UTSW 11 6,626,643 (GRCm39) missense probably benign 0.43
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
Z1177:Ramp3 UTSW 11 6,626,519 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACATCATGGGCTGCTACTG -3'
(R):5'- TATGGACAATCTGAACCCCAGC -3'

Sequencing Primer
(F):5'- GCTGCTACTGGCCCAAC -3'
(R):5'- ATCTGAACCCCAGCAGGCG -3'
Posted On 2020-10-20