Incidental Mutation 'R9705:Ramp2'
ID 729763
Institutional Source Beutler Lab
Gene Symbol Ramp2
Ensembl Gene ENSMUSG00000001240
Gene Name receptor (calcitonin) activity modifying protein 2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9705 (G1)
Quality Score 188.009
Status Not validated
Chromosome 11
Chromosomal Location 101137160-101139076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101137369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 31 (L31Q)
Ref Sequence ENSEMBL: ENSMUSP00000122072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107282] [ENSMUST00000122006] [ENSMUST00000128260] [ENSMUST00000129680] [ENSMUST00000149585] [ENSMUST00000151830]
AlphaFold Q9WUP0
Predicted Effect probably benign
Transcript: ENSMUST00000107282
SMART Domains Protein: ENSMUSP00000102903
Gene: ENSMUSG00000001240

DomainStartEndE-ValueType
Pfam:RAMP 29 140 1.5e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122006
AA Change: L31Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114061
Gene: ENSMUSG00000001240
AA Change: L31Q

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
PDB:2XVT|F 71 105 3e-6 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000128260
AA Change: L31Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127718
Gene: ENSMUSG00000001240
AA Change: L31Q

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000129680
AA Change: L31Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122072
Gene: ENSMUSG00000001240
AA Change: L31Q

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Pfam:RAMP 80 187 6.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149585
AA Change: L31Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116331
Gene: ENSMUSG00000001240
AA Change: L31Q

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151830
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
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 (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality. Mice heterozygous for the null allele exhibit decreased litter size beyond the loss of homozygous embryos. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C T 1: 11,588,913 (GRCm39) P110L probably damaging Het
Aff1 T G 5: 103,932,276 (GRCm39) L298R possibly damaging Het
B4galt1 T C 4: 40,853,474 (GRCm39) K111R probably benign Het
Brap A G 5: 121,801,373 (GRCm39) T87A probably benign Het
C1qtnf6 T A 15: 78,411,493 (GRCm39) Q61L probably benign Het
Ccar2 C A 14: 70,380,383 (GRCm39) C399F probably damaging Het
Cdh15 C A 8: 123,591,024 (GRCm39) D424E probably damaging Het
Cemip2 G A 19: 21,784,788 (GRCm39) V424I probably damaging Het
Col4a4 G A 1: 82,465,313 (GRCm39) A954V unknown Het
Cul9 T G 17: 46,854,226 (GRCm39) T159P probably damaging Het
Cyp3a59 A G 5: 146,033,120 (GRCm39) E164G probably benign Het
Dnah11 A C 12: 118,094,770 (GRCm39) L766R probably damaging Het
Drd5 T C 5: 38,478,027 (GRCm39) V340A probably damaging Het
Ephb6 G A 6: 41,596,715 (GRCm39) E921K probably benign Het
Fam83e G A 7: 45,371,921 (GRCm39) R106K probably benign Het
Fsip2 A G 2: 82,823,634 (GRCm39) T6456A probably benign Het
H2ac1 A G 13: 24,118,728 (GRCm39) N95S probably benign Het
H2-M10.6 A G 17: 37,123,642 (GRCm39) N112S probably benign Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Hoxc9 T A 15: 102,890,362 (GRCm39) M93K possibly damaging Het
Hsd17b4 A C 18: 50,324,791 (GRCm39) K668T probably benign Het
Inpp4b T C 8: 82,772,890 (GRCm39) V728A probably benign Het
Jph3 C T 8: 122,508,913 (GRCm39) R392W probably damaging Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Mphosph10 T C 7: 64,027,031 (GRCm39) E594G possibly damaging Het
Mrm2 G A 5: 140,316,990 (GRCm39) R15W probably damaging Het
Neurl4 A T 11: 69,799,679 (GRCm39) D994V probably damaging Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Odam T A 5: 88,037,228 (GRCm39) F141I probably benign Het
Or1j10 A G 2: 36,266,962 (GRCm39) Y58C probably damaging Het
Or56a3b T A 7: 104,770,841 (GRCm39) L59Q probably damaging Het
Pck1 T A 2: 173,000,170 (GRCm39) S534T possibly damaging Het
Pgm3 A G 9: 86,437,414 (GRCm39) F528L probably benign Het
Pi4ka A T 16: 17,099,815 (GRCm39) I1936N Het
Ptpn13 T C 5: 103,681,221 (GRCm39) L807S possibly damaging Het
Rars2 A T 4: 34,646,561 (GRCm39) K275N possibly damaging Het
Rusc2 A C 4: 43,424,936 (GRCm39) N1131T probably benign Het
Snapc1 G T 12: 74,015,150 (GRCm39) K161N probably damaging Het
Spag8 G A 4: 43,652,366 (GRCm39) H325Y possibly damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Synpo2l C T 14: 20,710,989 (GRCm39) V773M probably damaging Het
Syt3 A G 7: 44,045,225 (GRCm39) D519G probably damaging Het
Tacc2 A G 7: 130,361,018 (GRCm39) Y459C probably damaging Het
Trp53tg5 T C 2: 164,313,208 (GRCm39) S156G probably benign Het
Ubb A G 11: 62,443,375 (GRCm39) Y135C possibly damaging Het
Vmn2r90 A G 17: 17,933,039 (GRCm39) I200V possibly damaging Het
Zfp27 C A 7: 29,595,342 (GRCm39) V208F possibly damaging Het
Other mutations in Ramp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Ramp2 APN 11 101,138,453 (GRCm39) missense probably benign 0.37
R1518:Ramp2 UTSW 11 101,138,408 (GRCm39) missense probably benign 0.22
R2218:Ramp2 UTSW 11 101,138,457 (GRCm39) missense probably benign 0.00
R2566:Ramp2 UTSW 11 101,137,371 (GRCm39) unclassified probably benign
R3412:Ramp2 UTSW 11 101,137,371 (GRCm39) unclassified probably benign
R4967:Ramp2 UTSW 11 101,138,383 (GRCm39) splice site probably null
R4998:Ramp2 UTSW 11 101,138,247 (GRCm39) intron probably benign
R7436:Ramp2 UTSW 11 101,138,765 (GRCm39) missense possibly damaging 0.94
R8086:Ramp2 UTSW 11 101,138,762 (GRCm39) missense probably damaging 1.00
R9744:Ramp2 UTSW 11 101,137,913 (GRCm39) missense unknown
X0018:Ramp2 UTSW 11 101,137,371 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GAAGTGGATCGCAGTTCACG -3'
(R):5'- TTCAGGACCCATCTGCAGTTC -3'

Sequencing Primer
(F):5'- ATCGCAGTTCACGGGGTACAG -3'
(R):5'- TCTGCAGTTCAGAGGTGCTCC -3'
Posted On 2022-10-06