Incidental Mutation 'R7292:Ramp1'
ID 566460
Institutional Source Beutler Lab
Gene Symbol Ramp1
Ensembl Gene ENSMUSG00000034353
Gene Name receptor (calcitonin) activity modifying protein 1
Synonyms 9130218E19Rik
MMRRC Submission 045397-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7292 (G1)
Quality Score 209.009
Status Validated
Chromosome 1
Chromosomal Location 91107544-91152918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 91124499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 20 (H20P)
Ref Sequence ENSEMBL: ENSMUSP00000095253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097648] [ENSMUST00000165855] [ENSMUST00000188475]
AlphaFold Q9WTJ5
Predicted Effect probably benign
Transcript: ENSMUST00000097648
AA Change: H20P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000095253
Gene: ENSMUSG00000034353
AA Change: H20P

DomainStartEndE-ValueType
Pfam:RAMP 37 146 1.1e-49 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000128679
Gene: ENSMUSG00000034353
AA Change: H20P

DomainStartEndE-ValueType
Pfam:RAMP 34 83 8.5e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000188475
AA Change: H20P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139720
Gene: ENSMUSG00000034353
AA Change: H20P

DomainStartEndE-ValueType
Pfam:RAMP 34 83 8.5e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,215,861 (GRCm39) C322* probably null Het
4930553M12Rik G A 4: 88,786,568 (GRCm39) R17C unknown Het
Abcc8 G A 7: 45,784,950 (GRCm39) T726I probably benign Het
Adamts18 T C 8: 114,436,277 (GRCm39) T981A probably benign Het
Adgrb3 A G 1: 25,570,957 (GRCm39) C507R probably damaging Het
Bloc1s6 T A 2: 122,584,615 (GRCm39) D63E probably damaging Het
Cdc25b C T 2: 131,033,093 (GRCm39) R135W probably damaging Het
Cdca2 G T 14: 67,915,326 (GRCm39) Y644* probably null Het
Ceacam10 G T 7: 24,477,775 (GRCm39) G97C probably damaging Het
Cenpf G A 1: 189,382,891 (GRCm39) L2668F probably damaging Het
Cog4 A G 8: 111,608,460 (GRCm39) D774G probably damaging Het
Col11a2 G A 17: 34,270,482 (GRCm39) G511E unknown Het
Col19a1 T A 1: 24,569,089 (GRCm39) I220F unknown Het
Cubn G T 2: 13,429,550 (GRCm39) T1317K probably damaging Het
Dnaaf5 T C 5: 139,136,072 (GRCm39) L24P unknown Het
Eif4a3l2 G A 6: 116,528,438 (GRCm39) R105Q probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Foxn4 C A 5: 114,396,716 (GRCm39) E256* probably null Het
Gm5930 A G 14: 44,574,014 (GRCm39) S108P probably damaging Het
Gnl3 A G 14: 30,735,189 (GRCm39) S468P probably benign Het
Gzmb A T 14: 56,499,576 (GRCm39) S11T probably benign Het
Hmcn1 T C 1: 150,608,880 (GRCm39) probably null Het
Ifi206 A G 1: 173,301,428 (GRCm39) L750P unknown Het
Ifi213 T A 1: 173,422,691 (GRCm39) E58V probably damaging Het
Igkv4-78 A T 6: 69,036,752 (GRCm39) Y94N probably damaging Het
Igsf9 G T 1: 172,319,324 (GRCm39) probably null Het
Itpr2 G T 6: 146,060,447 (GRCm39) L2490M possibly damaging Het
Kdm2b A G 5: 123,018,854 (GRCm39) F862S probably damaging Het
Kif19b A G 5: 140,457,425 (GRCm39) D398G probably benign Het
Meis1 A G 11: 18,961,351 (GRCm39) I174T probably damaging Het
Micu3 A G 8: 40,835,166 (GRCm39) Q507R probably benign Het
Mpp4 C T 1: 59,182,969 (GRCm39) E313K possibly damaging Het
Nfatc4 G A 14: 56,062,512 (GRCm39) E7K probably damaging Het
Or7g16 A T 9: 18,727,486 (GRCm39) Y35N probably damaging Het
Or9s18 T A 13: 65,300,656 (GRCm39) V206D possibly damaging Het
Osbpl5 G A 7: 143,255,015 (GRCm39) P470S probably damaging Het
Pak6 A G 2: 118,524,072 (GRCm39) D409G possibly damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,361,986 (GRCm39) M553K probably benign Het
Ppp2r3d T C 9: 101,089,871 (GRCm39) N151D probably damaging Het
Prdm12 T C 2: 31,533,862 (GRCm39) W160R probably damaging Het
Prdm2 G A 4: 142,859,471 (GRCm39) T1273M possibly damaging Het
Prl2a1 A G 13: 27,991,353 (GRCm39) probably null Het
Prob1 G A 18: 35,787,603 (GRCm39) P217L possibly damaging Het
Rbm47 T A 5: 66,184,093 (GRCm39) E170V possibly damaging Het
Relch G T 1: 105,649,141 (GRCm39) probably null Het
Rpn1 C T 6: 88,067,066 (GRCm39) P142L probably damaging Het
Rsu1 C T 2: 13,174,827 (GRCm39) R238H probably damaging Het
Sh3rf3 C T 10: 58,907,795 (GRCm39) P441L probably damaging Het
Slc1a6 A G 10: 78,650,438 (GRCm39) S559G possibly damaging Het
Slc35f5 C A 1: 125,500,222 (GRCm39) S245R probably damaging Het
Spcs3 T C 8: 54,979,554 (GRCm39) N76D probably benign Het
Spmip5 A T 19: 58,777,539 (GRCm39) Y90* probably null Het
Svep1 T C 4: 58,111,395 (GRCm39) T1075A possibly damaging Het
Sympk A T 7: 18,769,955 (GRCm39) I211F probably benign Het
Tk1 C T 11: 117,716,603 (GRCm39) M1I probably null Het
Tln2 A G 9: 67,253,743 (GRCm39) V776A probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tnk2 T C 16: 32,499,618 (GRCm39) V977A probably benign Het
Toporsl A T 4: 52,611,630 (GRCm39) S508C probably benign Het
Trank1 A C 9: 111,206,938 (GRCm39) R1690S probably benign Het
Trio T A 15: 27,828,437 (GRCm39) Q1409L possibly damaging Het
Vit T C 17: 78,912,927 (GRCm39) F287L probably benign Het
Vmn2r109 G C 17: 20,761,700 (GRCm39) D552E probably benign Het
Zw10 T C 9: 48,972,491 (GRCm39) V186A probably benign 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
R8941:Ramp1 UTSW 1 91,134,137 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTTATCTCCTGATCACACAGAC -3'
(R):5'- TGACTGAGACTCCCTTTCCG -3'

Sequencing Primer
(F):5'- GACACACATTTCTGGGACCCTG -3'
(R):5'- GCCTGATGCCCCAATGTAAAGG -3'
Posted On 2019-06-26