Incidental Mutation 'R4330:Ramp1'
ID 324557
Institutional Source Beutler Lab
Gene Symbol Ramp1
Ensembl Gene ENSMUSG00000034353
Gene Name receptor (calcitonin) activity modifying protein 1
Synonyms 9130218E19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4330 (G1)
Quality Score 221
Status Not validated
Chromosome 1
Chromosomal Location 91107544-91152918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91151067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 144 (T144I)
Ref Sequence ENSEMBL: ENSMUSP00000095253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097648]
AlphaFold Q9WTJ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000097648
AA Change: T144I

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095253
Gene: ENSMUSG00000034353
AA Change: T144I

DomainStartEndE-ValueType
Pfam:RAMP 37 146 1.1e-49 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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 (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit high systolic blood pressure due to a disruption in vasodilatory regulation as well as significantly increased serum levels of proinflammatory cytokines following LPS administration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,079,287 (GRCm39) K312N probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Cdh10 G A 15: 19,000,045 (GRCm39) V497I probably damaging Het
Chd4 T C 6: 125,078,565 (GRCm39) V229A probably benign Het
Cnr2 T A 4: 135,644,237 (GRCm39) I105N possibly damaging Het
Dnai1 A G 4: 41,637,966 (GRCm39) T701A probably damaging Het
Eri1 G A 8: 35,936,383 (GRCm39) R313* probably null Het
Hrh3 T C 2: 179,741,665 (GRCm39) probably benign Het
Hs3st5 T A 10: 36,708,726 (GRCm39) V87D probably benign Het
Jmy G C 13: 93,635,390 (GRCm39) P142R probably damaging Het
Jmy C A 13: 93,635,781 (GRCm39) D12Y probably damaging Het
Mfsd4a A C 1: 131,981,291 (GRCm39) M320R possibly damaging Het
Myocd A T 11: 65,114,590 (GRCm39) H49Q probably benign Het
Nlk A G 11: 78,481,774 (GRCm39) I229T possibly damaging Het
Rabl2 T C 15: 89,471,137 (GRCm39) D66G probably benign Het
Rhbdf2 T C 11: 116,492,782 (GRCm39) K413R probably benign Het
Scpep1 G A 11: 88,826,729 (GRCm39) Q236* probably null Het
Stil A G 4: 114,862,176 (GRCm39) R40G probably damaging Het
Syt7 T C 19: 10,399,162 (GRCm39) V86A probably damaging Het
Ubr2 A T 17: 47,278,204 (GRCm39) L711Q probably null Het
Vmn1r78 T A 7: 11,886,386 (GRCm39) probably null Het
Zfp280d C T 9: 72,203,261 (GRCm39) T3I possibly damaging Het
Zscan25 T A 5: 145,227,361 (GRCm39) F342I probably damaging Het
Other mutations in Ramp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01737:Ramp1 APN 1 91,150,821 (GRCm39) splice site probably benign
R0049:Ramp1 UTSW 1 91,124,592 (GRCm39) missense possibly damaging 0.90
R0049:Ramp1 UTSW 1 91,124,592 (GRCm39) missense possibly damaging 0.90
R0256:Ramp1 UTSW 1 91,124,641 (GRCm39) splice site probably benign
R1596:Ramp1 UTSW 1 91,151,022 (GRCm39) missense possibly damaging 0.55
R1812:Ramp1 UTSW 1 91,124,579 (GRCm39) missense probably damaging 0.99
R4331:Ramp1 UTSW 1 91,151,067 (GRCm39) missense possibly damaging 0.75
R4681:Ramp1 UTSW 1 91,124,511 (GRCm39) missense probably benign 0.33
R7292:Ramp1 UTSW 1 91,124,499 (GRCm39) missense probably benign 0.00
R8941:Ramp1 UTSW 1 91,134,137 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCCGGAAGTGGACAGATTCTTC -3'
(R):5'- GAGACCTGGTGCTTAGAACAATC -3'

Sequencing Primer
(F):5'- GAAGTGGACAGATTCTTCATCGC -3'
(R):5'- CCTGGTGCTTAGAACAATCTCAGAG -3'
Posted On 2015-06-24