Incidental Mutation 'R3412:Ramp2'
ID 267778
Institutional Source Beutler Lab
Gene Symbol Ramp2
Ensembl Gene ENSMUSG00000001240
Gene Name receptor (calcitonin) activity modifying protein 2
Synonyms
MMRRC Submission 040630-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3412 (G1)
Quality Score 107
Status Validated
Chromosome 11
Chromosomal Location 101137160-101139076 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) TTGCTGCTGCTGCTGCTGCTGCTG to TTGCTGCTGCTGCTGCTGCTG at 101137371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123150 (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 probably benign
Transcript: ENSMUST00000122006
SMART Domains Protein: ENSMUSP00000114061
Gene: ENSMUSG00000001240

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

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129680
SMART Domains Protein: ENSMUSP00000122072
Gene: ENSMUSG00000001240

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Pfam:RAMP 80 187 6.7e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149006
Predicted Effect probably benign
Transcript: ENSMUST00000149585
SMART Domains Protein: ENSMUSP00000116331
Gene: ENSMUSG00000001240

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151830
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (40/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 T C 13: 8,802,654 (GRCm39) F643S probably damaging Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Arhgef5 A G 6: 43,250,724 (GRCm39) I492V probably benign Het
Atp8b4 C A 2: 126,217,677 (GRCm39) W613L probably damaging Het
Ccdc162 T C 10: 41,415,545 (GRCm39) probably benign Het
Duxf4 G A 10: 58,072,175 (GRCm39) T13I possibly damaging Het
Esp24 T A 17: 39,349,207 (GRCm39) I11N possibly damaging Het
Exoc4 A G 6: 33,242,910 (GRCm39) E41G probably damaging Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Gria4 T A 9: 4,513,278 (GRCm39) D277V probably benign Het
Il18r1 A T 1: 40,530,227 (GRCm39) D318V probably damaging Het
Il4i1 T C 7: 44,486,082 (GRCm39) L22P probably damaging Het
Inpp5d C A 1: 87,595,779 (GRCm39) T175N possibly damaging Het
Krt90 T A 15: 101,469,028 (GRCm39) L171F probably damaging Het
Mthfd1 A G 12: 76,350,523 (GRCm39) probably null Het
Or51f5 T C 7: 102,423,962 (GRCm39) L77P possibly damaging Het
Or51q1 T C 7: 103,628,609 (GRCm39) L76P probably damaging Het
Or5an1c T C 19: 12,218,954 (GRCm39) I24V probably benign Het
Or6c1b A T 10: 129,273,176 (GRCm39) D165V probably damaging Het
Pla2g4f T C 2: 120,133,587 (GRCm39) S579G probably benign Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Prss43 G C 9: 110,658,532 (GRCm39) Q277H probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc12a5 A G 2: 164,810,351 (GRCm39) D10G probably benign Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Sos1 T C 17: 80,714,146 (GRCm39) D1108G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Tacc2 A G 7: 130,336,724 (GRCm39) T2369A probably benign Het
Taok2 T C 7: 126,470,030 (GRCm39) I933V possibly damaging Het
Tex9 C A 9: 72,385,040 (GRCm39) Q265H possibly damaging Het
Trim69 T C 2: 122,009,125 (GRCm39) V395A probably benign Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Ubr5 T C 15: 38,004,479 (GRCm39) probably benign Het
Utp25 A C 1: 192,810,810 (GRCm39) S64R possibly damaging Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K probably 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
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
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'- AAGTGGATCGCAGTTCACGG -3'
(R):5'- ATTCAGGACCCATCTGCAGTTC -3'

Sequencing Primer
(F):5'- ATCGCAGTTCACGGGGTACAG -3'
(R):5'- TCTGCAGTTCAGAGGTGCTCC -3'
Posted On 2015-02-18