Incidental Mutation 'R8941:Ramp1'
ID 680960
Institutional Source Beutler Lab
Gene Symbol Ramp1
Ensembl Gene ENSMUSG00000034353
Gene Name receptor (calcitonin) activity modifying protein 1
Synonyms 9130218E19Rik
MMRRC Submission 068781-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8941 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 91107544-91152918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 91134137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 97 (P97A)
Ref Sequence ENSEMBL: ENSMUSP00000139720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097648] [ENSMUST00000165855] [ENSMUST00000188475]
AlphaFold Q9WTJ5
Predicted Effect probably benign
Transcript: ENSMUST00000097648
SMART Domains Protein: ENSMUSP00000095253
Gene: ENSMUSG00000034353

DomainStartEndE-ValueType
Pfam:RAMP 37 146 1.1e-49 PFAM
Predicted Effect silent
Transcript: ENSMUST00000165855
SMART Domains Protein: ENSMUSP00000128679
Gene: ENSMUSG00000034353

DomainStartEndE-ValueType
Pfam:RAMP 34 83 8.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188475
AA Change: P97A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139720
Gene: ENSMUSG00000034353
AA Change: P97A

DomainStartEndE-ValueType
Pfam:RAMP 34 83 8.5e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,679 (GRCm39) T103S probably benign Het
Aadacl2fm3 A G 3: 59,784,400 (GRCm39) Y291C probably damaging Het
Aass A T 6: 23,075,261 (GRCm39) probably benign Het
Adgrb3 A T 1: 25,133,235 (GRCm39) C1284S probably damaging Het
Adora2a G A 10: 75,169,559 (GRCm39) W341* probably null Het
Afg2a T A 3: 37,486,142 (GRCm39) L288H probably damaging Het
Arap1 G A 7: 101,057,324 (GRCm39) R1355Q possibly damaging Het
Asic5 A T 3: 81,913,915 (GRCm39) probably benign Het
Canx T C 11: 50,195,270 (GRCm39) D266G possibly damaging Het
Cfap57 A T 4: 118,426,799 (GRCm39) Y1080N probably damaging Het
Chat C T 14: 32,130,963 (GRCm39) M559I probably benign Het
Chd5 G A 4: 152,463,305 (GRCm39) S1425N possibly damaging Het
Cog8 T C 8: 107,783,202 (GRCm39) D29G probably damaging Het
Cox15 A G 19: 43,732,172 (GRCm39) S215P probably benign Het
Cramp1 C T 17: 25,202,114 (GRCm39) G456D probably damaging Het
Dbt T C 3: 116,339,698 (GRCm39) V362A probably damaging Het
Dio1 C A 4: 107,164,147 (GRCm39) A57S probably benign Het
F5 C A 1: 164,026,440 (GRCm39) H1671N probably benign Het
Gm6309 A G 5: 146,107,155 (GRCm39) Y64H probably damaging Het
Hipk1 A G 3: 103,660,743 (GRCm39) C731R probably damaging Het
Hmgcl G A 4: 135,683,015 (GRCm39) A156T probably damaging Het
Il15ra A T 2: 11,737,995 (GRCm39) T210S possibly damaging Het
Kat8 T C 7: 127,524,400 (GRCm39) L426P probably damaging Het
Lrrc39 G T 3: 116,359,496 (GRCm39) V14L probably damaging Het
Lrrc7 T C 3: 157,869,593 (GRCm39) M709V probably benign Het
Mdm4 T C 1: 132,919,671 (GRCm39) H398R probably benign Het
Mroh2b A T 15: 4,991,606 (GRCm39) Q1568L possibly damaging Het
Myo18b G A 5: 113,022,795 (GRCm39) probably benign Het
Nr4a3 C A 4: 48,051,756 (GRCm39) P170Q possibly damaging Het
Ntrk2 A G 13: 59,208,109 (GRCm39) M652V probably damaging Het
Or10n7-ps1 A T 9: 39,597,812 (GRCm39) *143K probably null Het
Or5b95 G A 19: 12,657,471 (GRCm39) probably benign Het
Paxbp1 T C 16: 90,832,815 (GRCm39) I325V possibly damaging Het
Pcare T C 17: 72,059,137 (GRCm39) H180R probably benign Het
Pi4ka G T 16: 17,114,807 (GRCm39) probably benign Het
Pira13 A G 7: 3,825,380 (GRCm39) S421P probably damaging Het
Pou6f1 T A 15: 100,489,742 (GRCm39) D74V probably damaging Het
Prpsap2 C A 11: 61,627,870 (GRCm39) R202L probably damaging Het
Ptprn A T 1: 75,228,407 (GRCm39) L890Q probably damaging Het
Rapgefl1 A G 11: 98,731,101 (GRCm39) D179G probably damaging Het
Rbp3 T A 14: 33,678,486 (GRCm39) F811L possibly damaging Het
Rnf213 C A 11: 119,305,250 (GRCm39) L494M probably damaging Het
Rpl4 A G 9: 64,082,245 (GRCm39) N48S probably benign Het
Rsbn1l A G 5: 21,110,841 (GRCm39) V499A probably damaging Het
Sacs A G 14: 61,430,022 (GRCm39) T691A probably benign Het
Sass6 T C 3: 116,407,709 (GRCm39) V275A probably benign Het
Sdcbp T C 4: 6,393,661 (GRCm39) S259P probably benign Het
Sephs2 A G 7: 126,872,206 (GRCm39) F296L probably benign Het
Slc12a4 C T 8: 106,673,322 (GRCm39) probably null Het
Snrk G A 9: 121,989,597 (GRCm39) V314I probably benign Het
Tas1r3 C T 4: 155,947,600 (GRCm39) probably null Het
Tle3 T A 9: 61,320,195 (GRCm39) V560E probably damaging Het
Trdmt1 A G 2: 13,526,918 (GRCm39) Y144H probably benign Het
Trim42 T C 9: 97,245,100 (GRCm39) T567A probably benign Het
Tsbp1 A C 17: 34,678,973 (GRCm39) R228S possibly damaging Het
Tuba4a T C 1: 75,193,945 (GRCm39) D74G probably benign Het
Ube3c G A 5: 29,842,769 (GRCm39) probably null Het
Vwa3a A G 7: 120,375,311 (GRCm39) D375G probably benign Het
Zfp729b A G 13: 67,741,218 (GRCm39) M349T possibly 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
R4330:Ramp1 UTSW 1 91,151,067 (GRCm39) missense possibly damaging 0.75
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
Predicted Primers PCR Primer
(F):5'- TCCCTGGGTATATTTTGAAGCTTC -3'
(R):5'- GGTGAATCCCAGCAATCGTG -3'

Sequencing Primer
(F):5'- GAAGCTTCATTTTTCTCTTAAGGAAC -3'
(R):5'- TCGTGCAGGAGAAATACTGAC -3'
Posted On 2021-08-31