Incidental Mutation 'R4681:Ramp1'
ID 350010
Institutional Source Beutler Lab
Gene Symbol Ramp1
Ensembl Gene ENSMUSG00000034353
Gene Name receptor (calcitonin) activity modifying protein 1
Synonyms 9130218E19Rik
MMRRC Submission 042015-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4681 (G1)
Quality Score 158
Status Validated
Chromosome 1
Chromosomal Location 91107544-91152918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91124511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 24 (V24A)
Ref Sequence ENSEMBL: ENSMUSP00000139720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097648] [ENSMUST00000165855] [ENSMUST00000188475]
AlphaFold Q9WTJ5
Predicted Effect probably benign
Transcript: ENSMUST00000097648
AA Change: V24A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095253
Gene: ENSMUSG00000034353
AA Change: V24A

DomainStartEndE-ValueType
Pfam:RAMP 37 146 1.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165855
AA Change: V24A

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128679
Gene: ENSMUSG00000034353
AA Change: V24A

DomainStartEndE-ValueType
Pfam:RAMP 34 83 8.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188475
AA Change: V24A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139720
Gene: ENSMUSG00000034353
AA Change: V24A

DomainStartEndE-ValueType
Pfam:RAMP 34 83 8.5e-11 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 G T 1: 179,580,361 (GRCm39) T1947K probably benign Het
Ak9 A C 10: 41,303,234 (GRCm39) K1669T unknown Het
Atp4b T C 8: 13,439,700 (GRCm39) E174G probably benign Het
Bcl6 A G 16: 23,787,203 (GRCm39) probably benign Het
Brca2 C G 5: 150,475,863 (GRCm39) probably null Het
Btnl4 A T 17: 34,689,075 (GRCm39) probably null Het
C4a G T 17: 35,036,075 (GRCm39) noncoding transcript Het
Cab39l A G 14: 59,737,054 (GRCm39) D58G probably benign Het
Cacna2d3 A T 14: 29,015,092 (GRCm39) M100K probably damaging Het
Car2 T A 3: 14,960,624 (GRCm39) Y127* probably null Het
Cdhr1 T C 14: 36,818,194 (GRCm39) N86S probably benign Het
Celsr3 A G 9: 108,704,953 (GRCm39) I479V possibly damaging Het
Cfhr1 A T 1: 139,478,667 (GRCm39) Y53* probably null Het
Cgrrf1 A G 14: 47,091,283 (GRCm39) E269G probably benign Het
Cimap3 C A 3: 105,905,701 (GRCm39) G148C probably damaging Het
Clcn7 A T 17: 25,376,935 (GRCm39) H636L probably damaging Het
Cox10 T G 11: 63,867,277 (GRCm39) T240P possibly damaging Het
Crybg2 CTTCCAGAGCCATGGACCCATCTTTTCCA CTTCCA 4: 133,800,029 (GRCm39) probably null Het
Dbt A G 3: 116,326,963 (GRCm39) D104G probably damaging Het
F730035P03Rik T C 7: 99,429,425 (GRCm39) noncoding transcript Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam186b T C 15: 99,178,771 (GRCm39) K185R probably benign Het
Fat4 T C 3: 38,941,491 (GRCm39) L128P probably damaging Het
Gbf1 A T 19: 46,268,989 (GRCm39) Q1381L probably benign Het
Glp2r C T 11: 67,621,453 (GRCm39) probably null Het
Gm18025 A G 12: 34,340,884 (GRCm39) S70P probably benign Het
Gpr45 A G 1: 43,072,068 (GRCm39) D237G probably benign Het
Hectd4 A T 5: 121,441,678 (GRCm39) L1213F possibly damaging Het
Hydin T C 8: 111,233,103 (GRCm39) V1734A possibly damaging Het
Kcnh5 A T 12: 75,054,397 (GRCm39) S516T probably benign Het
Liph A C 16: 21,802,777 (GRCm39) S97R probably benign Het
Mtcl1 T C 17: 66,756,139 (GRCm39) T68A unknown Het
Nsun7 T A 5: 66,418,542 (GRCm39) S91T probably benign Het
Or5an10 T C 19: 12,276,413 (GRCm39) T28A probably benign Het
Or6c75 A G 10: 129,337,433 (GRCm39) I227V probably damaging Het
Pcdh20 A T 14: 88,705,052 (GRCm39) N749K probably damaging Het
Pot1b A T 17: 55,961,831 (GRCm39) D582E probably benign Het
Pxdn T C 12: 30,062,325 (GRCm39) I1212T probably benign Het
S100a8 T A 3: 90,576,890 (GRCm39) D14E probably benign Het
Stk31 A G 6: 49,414,369 (GRCm39) D501G probably benign Het
Tbc1d19 G A 5: 54,029,595 (GRCm39) V319M probably damaging Het
Tbcel G T 9: 42,361,268 (GRCm39) H93Q probably damaging Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Trpm8 A T 1: 88,312,427 (GRCm39) I1103F possibly damaging Het
Ttc19 T A 11: 62,199,917 (GRCm39) C112* probably null Het
Unc5c T G 3: 141,474,374 (GRCm39) probably null Het
Urb1 A T 16: 90,601,425 (GRCm39) H115Q probably damaging Het
Vmn2r15 T A 5: 109,434,488 (GRCm39) I739F probably damaging Het
Zcchc14 G T 8: 122,335,339 (GRCm39) probably benign Het
Zfp408 G A 2: 91,476,131 (GRCm39) P341L probably damaging Het
Zfp638 G A 6: 83,958,719 (GRCm39) V1166M 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
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'- ACACAGACACACATTTCTGGG -3'
(R):5'- CAATGACTGAGACTCCCTTTCCG -3'

Sequencing Primer
(F):5'- GACACACATTTCTGGGACCCTG -3'
(R):5'- GCCTGATGCCCCAATGTAAAGG -3'
Posted On 2015-10-08