Incidental Mutation 'R2218:Ramp2'
ID 241280
Institutional Source Beutler Lab
Gene Symbol Ramp2
Ensembl Gene ENSMUSG00000001240
Gene Name receptor (calcitonin) activity modifying protein 2
Synonyms
MMRRC Submission 040220-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2218 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101137160-101139076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101138457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 86 (E86G)
Ref Sequence ENSEMBL: ENSMUSP00000114061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107282] [ENSMUST00000122006] [ENSMUST00000128260] [ENSMUST00000129680] [ENSMUST00000149585] [ENSMUST00000151830]
AlphaFold Q9WUP0
Predicted Effect probably benign
Transcript: ENSMUST00000107282
AA Change: E38G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102903
Gene: ENSMUSG00000001240
AA Change: E38G

DomainStartEndE-ValueType
Pfam:RAMP 29 140 1.5e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122006
AA Change: E86G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000114061
Gene: ENSMUSG00000001240
AA Change: E86G

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
AA Change: E86G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122072
Gene: ENSMUSG00000001240
AA Change: E86G

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 unknown
Transcript: ENSMUST00000151830
AA Change: E80G
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram G T 4: 56,802,693 (GRCm39) V26L probably damaging Het
Acap3 A G 4: 155,988,319 (GRCm39) probably null Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atp13a5 A T 16: 29,140,464 (GRCm39) V319D probably damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Brinp1 A G 4: 68,680,952 (GRCm39) L526P probably damaging Het
Cacna1d C T 14: 29,845,048 (GRCm39) D679N probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Drd2 T C 9: 49,311,094 (GRCm39) V115A probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
F13b G T 1: 139,434,582 (GRCm39) S116I probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gcn1 C A 5: 115,757,720 (GRCm39) S2475Y probably benign Het
Gls2 T C 10: 128,040,583 (GRCm39) L328P probably damaging Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Htr3a T C 9: 48,819,911 (GRCm39) Y73C probably damaging Het
Iapp G A 6: 142,249,096 (GRCm39) A50T probably benign Het
Il10ra T C 9: 45,176,914 (GRCm39) D137G probably benign Het
Krt35 T C 11: 99,986,988 (GRCm39) S9G probably null Het
Lamc2 T A 1: 153,006,525 (GRCm39) R875S probably benign Het
Mcoln1 C A 8: 3,555,813 (GRCm39) T36K possibly damaging Het
Muc6 T C 7: 141,233,227 (GRCm39) H885R probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or10al4 A T 17: 38,037,145 (GRCm39) I77F probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Rag1 T C 2: 101,474,491 (GRCm39) H217R probably benign Het
Rcbtb2 T C 14: 73,416,005 (GRCm39) probably null Het
Sema5a A T 15: 32,631,455 (GRCm39) I613F probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Slc39a11 C A 11: 113,450,376 (GRCm39) probably null Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tkt G T 14: 30,289,018 (GRCm39) probably null Het
Tle1 A T 4: 72,117,556 (GRCm39) F35I possibly damaging Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Ttll13 A G 7: 79,902,250 (GRCm39) K109R probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp608 T C 18: 55,120,756 (GRCm39) N277S probably benign 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
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
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'- TTAGTCACGAGTGTCCTGCTAG -3'
(R):5'- ATTCCAAGCAGTTCTGCAGG -3'

Sequencing Primer
(F):5'- CCTGCTAGGGAACTTTTCAAAGG -3'
(R):5'- CTGCAGGTCGCTGTAATGC -3'
Posted On 2014-10-15