Incidental Mutation 'IGL01102:Ramp2'
ID 52300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ramp2
Ensembl Gene ENSMUSG00000001240
Gene Name receptor (calcitonin) activity modifying protein 2
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01102
Quality Score
Status
Chromosome 11
Chromosomal Location 101137160-101139076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101138453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 85 (Y85N)
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: Y37N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102903
Gene: ENSMUSG00000001240
AA Change: Y37N

DomainStartEndE-ValueType
Pfam:RAMP 29 140 1.5e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122006
AA Change: Y85N

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114061
Gene: ENSMUSG00000001240
AA Change: Y85N

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: Y85N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122072
Gene: ENSMUSG00000001240
AA Change: Y85N

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: Y79N
Coding Region Coverage
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
Abca2 C T 2: 25,323,968 (GRCm39) probably benign Het
Bloc1s2-ps C T 2: 52,509,914 (GRCm39) A50V probably benign Het
Bltp3b T C 10: 89,627,240 (GRCm39) L435P probably benign Het
Col4a3 A G 1: 82,647,441 (GRCm39) D455G unknown Het
Col4a3 A G 1: 82,647,976 (GRCm39) I496V unknown Het
Coro1c A T 5: 113,987,675 (GRCm39) M222K probably benign Het
Dnah5 T A 15: 28,410,149 (GRCm39) probably null Het
Emc4 C A 2: 112,197,871 (GRCm39) probably benign Het
Fcer2a T C 8: 3,738,842 (GRCm39) D32G possibly damaging Het
Fhip1a A G 3: 85,572,808 (GRCm39) probably benign Het
Garnl3 T C 2: 32,896,828 (GRCm39) K559E probably damaging Het
Gckr T C 5: 31,466,381 (GRCm39) L452P probably damaging Het
Gm4841 A G 18: 60,403,124 (GRCm39) V323A probably damaging Het
Gm6902 T A 7: 22,973,087 (GRCm39) I147L probably benign Het
Gpr75 T C 11: 30,841,755 (GRCm39) V220A probably benign Het
Hdac6 A G X: 7,813,237 (GRCm39) S42P probably benign Het
Hdhd2 A G 18: 77,044,607 (GRCm39) N128S probably damaging Het
Hsd3b2 G T 3: 98,618,995 (GRCm39) R317S probably damaging Het
Il23r T A 6: 67,400,909 (GRCm39) I474F probably damaging Het
Itga5 T C 15: 103,255,102 (GRCm39) Y954C probably benign Het
Itgam T C 7: 127,679,445 (GRCm39) F196L possibly damaging Het
Mapkbp1 T C 2: 119,852,339 (GRCm39) V957A possibly damaging Het
Mblac2 T C 13: 81,898,125 (GRCm39) M167T probably damaging Het
Mterf4 C T 1: 93,232,812 (GRCm39) R13H possibly damaging Het
Npffr1 T G 10: 61,449,987 (GRCm39) V87G probably damaging Het
Or5h18 G A 16: 58,848,192 (GRCm39) P26L probably benign Het
Or6c76b A G 10: 129,692,497 (GRCm39) I37V probably benign Het
Phldb2 A G 16: 45,645,423 (GRCm39) L386P probably damaging Het
Ppp1r13b A G 12: 111,799,653 (GRCm39) I708T probably benign Het
Pramel31 A G 4: 144,090,195 (GRCm39) I412V probably benign Het
Rnf217 A G 10: 31,484,499 (GRCm39) Y228H probably damaging Het
Rock1 T G 18: 10,080,502 (GRCm39) D1014A probably benign Het
Scyl3 T A 1: 163,762,338 (GRCm39) C101* probably null Het
Sema6b G T 17: 56,439,761 (GRCm39) L27I possibly damaging Het
Slc10a5 A G 3: 10,400,369 (GRCm39) V97A probably benign Het
Strc C A 2: 121,195,541 (GRCm39) R1636L probably benign Het
Tm9sf1 T A 14: 55,880,224 (GRCm39) T58S probably damaging Het
Tmem106c T C 15: 97,864,825 (GRCm39) Y85H probably damaging Het
Vmn2r9 A G 5: 108,990,811 (GRCm39) probably null Het
Vps13a A G 19: 16,628,781 (GRCm39) probably null Het
Zfp976 A T 7: 42,263,333 (GRCm39) L168* probably null Het
Other mutations in Ramp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1518:Ramp2 UTSW 11 101,138,408 (GRCm39) missense probably benign 0.22
R2218:Ramp2 UTSW 11 101,138,457 (GRCm39) missense probably benign 0.00
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
Posted On 2013-06-21