Incidental Mutation 'R9744:Ramp2'
ID 731993
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 # R9744 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 101137160-101139076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101137913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 52 (S52T)
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 unknown
Transcript: ENSMUST00000122006
AA Change: S52T
SMART Domains Protein: ENSMUSP00000114061
Gene: ENSMUSG00000001240
AA Change: S52T

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
PDB:2XVT|F 71 105 3e-6 PDB
Predicted Effect unknown
Transcript: ENSMUST00000128260
AA Change: S52T
SMART Domains Protein: ENSMUSP00000127718
Gene: ENSMUSG00000001240
AA Change: S52T

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000129680
AA Change: S52T
SMART Domains Protein: ENSMUSP00000122072
Gene: ENSMUSG00000001240
AA Change: S52T

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Pfam:RAMP 80 187 6.7e-42 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000149585
AA Change: S52T
SMART Domains Protein: ENSMUSP00000116331
Gene: ENSMUSG00000001240
AA Change: S52T

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000151830
AA Change: S46T
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.5%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,742,583 (GRCm39) M677L probably benign Het
Ankrd24 T G 10: 81,482,951 (GRCm39) D966E possibly damaging Het
Arhgef28 A G 13: 98,094,261 (GRCm39) L961P probably damaging Het
Atxn1 G A 13: 45,721,299 (GRCm39) Q199* probably null Het
Bcl2a1c G A 9: 114,159,341 (GRCm39) V40I probably benign Het
Cep41 A G 6: 30,656,603 (GRCm39) V283A probably benign Het
Cerk A G 15: 86,033,491 (GRCm39) Y311H probably damaging Het
Ciz1 A T 2: 32,253,859 (GRCm39) Q13L unknown Het
Cpeb2 T C 5: 43,391,268 (GRCm39) S155P Het
Dmbx1 T A 4: 115,777,262 (GRCm39) E200D probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Erc1 T C 6: 119,720,360 (GRCm39) Y747C probably damaging Het
Fhad1 T C 4: 141,637,124 (GRCm39) E1114G probably damaging Het
Fndc3a C A 14: 72,777,693 (GRCm39) E1171* probably null Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gys2 A C 6: 142,394,187 (GRCm39) D450E probably benign Het
Hmcn1 A T 1: 150,623,941 (GRCm39) I1120N probably damaging Het
Ints3 G T 3: 90,318,605 (GRCm39) T210K probably damaging Het
Itih5 T C 2: 10,256,221 (GRCm39) Y896H probably damaging Het
Kcna7 A G 7: 45,056,402 (GRCm39) D206G probably benign Het
Klhl10 T A 11: 100,336,396 (GRCm39) C128S probably damaging Het
Klhl5 T C 5: 65,320,255 (GRCm39) V603A probably damaging Het
Mapk15 T A 15: 75,869,912 (GRCm39) I344N possibly damaging Het
Mdn1 T C 4: 32,715,711 (GRCm39) F1993L possibly damaging Het
Myo1c T C 11: 75,562,797 (GRCm39) L959P probably damaging Het
Nectin1 A G 9: 43,715,240 (GRCm39) Q492R probably damaging Het
Nlrp14 A T 7: 106,796,987 (GRCm39) L951F probably damaging Het
Nlrp5 T G 7: 23,120,902 (GRCm39) S705R possibly damaging Het
Nlrp9a A G 7: 26,267,266 (GRCm39) Y787C probably benign Het
Npsr1 A G 9: 24,201,182 (GRCm39) T189A probably benign Het
Nup205 T C 6: 35,209,510 (GRCm39) Y1606H probably damaging Het
Or2w4 A G 13: 21,795,827 (GRCm39) F104S possibly damaging Het
Or4k48 C A 2: 111,475,664 (GRCm39) R226L probably benign Het
Or6z5 A T 7: 6,477,210 (GRCm39) I34L probably benign Het
Pitx2 A T 3: 129,009,467 (GRCm39) T129S probably damaging Het
Pla2g2c T C 4: 138,470,972 (GRCm39) S118P probably damaging Het
Polr1a A G 6: 71,906,372 (GRCm39) N396S probably benign Het
Prl A T 13: 27,248,338 (GRCm39) Q135L probably benign Het
Prrc2c A G 1: 162,505,733 (GRCm39) L2555P possibly damaging Het
Psg29 A T 7: 16,944,495 (GRCm39) D335V probably benign Het
Psme4 T C 11: 30,765,294 (GRCm39) probably null Het
Skint6 C T 4: 112,666,360 (GRCm39) G1155D probably damaging Het
Sorcs1 G A 19: 50,215,275 (GRCm39) R655C probably damaging Het
Syne1 A G 10: 5,274,184 (GRCm39) C1867R probably benign Het
Tcf21 T C 10: 22,695,726 (GRCm39) D26G probably benign Het
Tmem132a G A 19: 10,840,678 (GRCm39) P418L probably damaging Het
Tob1 C T 11: 94,105,054 (GRCm39) R197C probably damaging Het
Vmn2r110 A G 17: 20,794,848 (GRCm39) V607A probably damaging Het
Vmn2r30 A G 7: 7,315,284 (GRCm39) S850P 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
R9705:Ramp2 UTSW 11 101,137,369 (GRCm39) missense possibly damaging 0.96
X0018:Ramp2 UTSW 11 101,137,371 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ATGTGATTGGGACGCAGCTG -3'
(R):5'- CCTTTCCTAGCCCTGAAAGC -3'

Sequencing Primer
(F):5'- CTCAATAGGATAATCCCATGGGG -3'
(R):5'- TTCCTAGCCCTGAAAGCATATC -3'
Posted On 2022-11-14