Mutagenetix > Incidental Mutation

Incidental Mutation 'R1518:Ramp2'

167211

Institutional Source

Beutler Lab

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 #

R1518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101137160-101139076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101138408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 22 (T22A)

Ref Sequence

ENSEMBL: ENSMUSP00000102903 (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: T22A

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102903
Gene: ENSMUSG00000001240
AA Change: T22A

Domain	Start	End	E-Value	Type
Pfam:RAMP	29	140	1.5e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122006

SMART Domains

Protein: ENSMUSP00000114061
Gene: ENSMUSG00000001240

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129680

SMART Domains

Protein: ENSMUSP00000122072
Gene: ENSMUSG00000001240

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151830

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,186,666 (GRCm39)	M493L	probably benign	Het
Abtb2	G	A	2: 103,539,629 (GRCm39)	V665I	probably benign	Het
Adamtsl1	C	G	4: 86,260,840 (GRCm39)	S1017W	probably damaging	Het
Aebp1	A	G	11: 5,821,469 (GRCm39)	T623A	possibly damaging	Het
Alox5	A	G	6: 116,390,741 (GRCm39)	F470S	probably damaging	Het
Angpt2	T	C	8: 18,755,855 (GRCm39)	E204G	probably benign	Het
Apip	A	G	2: 102,919,838 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,039,207 (GRCm39)	T466M	probably benign	Het
Atp2b3	GACAACA	GACA	X: 72,588,729 (GRCm39)		probably benign	Het
Atxn7l3	A	T	11: 102,185,340 (GRCm39)	D56E	probably benign	Het
Cacna1s	C	T	1: 136,026,289 (GRCm39)	A1092V	probably damaging	Het
Calr3	A	G	8: 73,181,044 (GRCm39)	F183L	probably damaging	Het
Cd300lb	T	A	11: 114,816,877 (GRCm39)	D55V	probably benign	Het
Chid1	A	C	7: 141,108,384 (GRCm39)	V145G	probably damaging	Het
Chst15	T	C	7: 131,871,855 (GRCm39)	N142S	probably damaging	Het
Cnot4	C	T	6: 35,028,389 (GRCm39)	R409Q	probably damaging	Het
Cope	T	G	8: 70,765,411 (GRCm39)	I287S	possibly damaging	Het
Cpd	A	T	11: 76,731,212 (GRCm39)		probably null	Het
Cux1	G	T	5: 136,337,133 (GRCm39)	T785K	probably benign	Het
Dennd2b	A	G	7: 109,156,562 (GRCm39)	S63P	probably damaging	Het
Dthd1	T	C	5: 62,979,383 (GRCm39)	S348P	probably damaging	Het
Eno3	G	T	11: 70,551,903 (GRCm39)	E64*	probably null	Het
Entpd1	T	A	19: 40,713,507 (GRCm39)	Y184*	probably null	Het
Erv3	A	T	2: 131,698,083 (GRCm39)	M92K	probably benign	Het
Flg2	T	A	3: 93,110,445 (GRCm39)	H824Q	unknown	Het
Fndc9	G	A	11: 46,128,930 (GRCm39)	G150S	probably benign	Het
Gdap1	G	A	1: 17,217,169 (GRCm39)	V43I	possibly damaging	Het
Ifi213	C	A	1: 173,417,229 (GRCm39)	L394F	probably damaging	Het
Ift88	A	G	14: 57,668,085 (GRCm39)	T29A	possibly damaging	Het
Kdm4c	A	T	4: 74,252,063 (GRCm39)	I437L	probably benign	Het
Kras	T	A	6: 145,177,977 (GRCm39)	E98D	probably benign	Het
Lcorl	C	A	5: 45,891,543 (GRCm39)	R353I	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,921 (GRCm39)	I516V	probably benign	Het
Lrrc51	T	C	7: 101,564,803 (GRCm39)	D85G	probably damaging	Het
Lypd6b	G	A	2: 49,837,504 (GRCm39)	A159T	probably damaging	Het
Magel2	G	A	7: 62,030,188 (GRCm39)	V1031I	unknown	Het
Man1c1	A	T	4: 134,308,100 (GRCm39)	N338K	probably benign	Het
Mdn1	C	A	4: 32,739,977 (GRCm39)	Q3744K	probably damaging	Het
Micu3	G	T	8: 40,788,893 (GRCm39)	A135S	possibly damaging	Het
Muc4	T	C	16: 32,569,167 (GRCm39)	S76P	possibly damaging	Het
Nin	T	G	12: 70,061,547 (GRCm39)	T2106P	probably benign	Het
Nlrp4e	T	C	7: 23,021,268 (GRCm39)	I585T	probably benign	Het
Npy1r	C	T	8: 67,156,847 (GRCm39)	A89V	probably benign	Het
Or11g27	T	C	14: 50,771,622 (GRCm39)	V251A	probably damaging	Het
Or4c115	G	A	2: 88,927,944 (GRCm39)	A109V	probably benign	Het
Or52ae7	T	A	7: 103,119,249 (GRCm39)	M1K	probably null	Het
Or52n3	T	A	7: 104,530,515 (GRCm39)	Y200*	probably null	Het
Or5w13	A	T	2: 87,523,872 (GRCm39)	M118K	probably damaging	Het
Parp14	T	G	16: 35,677,008 (GRCm39)	T987P	possibly damaging	Het
Pde7b	A	T	10: 20,423,867 (GRCm39)	V3E	probably damaging	Het
Pdlim7	G	T	13: 55,656,107 (GRCm39)	Y104*	probably null	Het
Pgm2l1	A	G	7: 99,910,932 (GRCm39)	K292R	probably benign	Het
Plec	T	C	15: 76,072,401 (GRCm39)	E728G	probably damaging	Het
Plppr4	T	C	3: 117,129,152 (GRCm39)	Y105C	probably damaging	Het
Polr1c	A	T	17: 46,558,821 (GRCm39)	N23K	possibly damaging	Het
Ppp5c	A	T	7: 16,743,861 (GRCm39)	M191K	probably damaging	Het
Prkca	T	C	11: 107,869,142 (GRCm39)	D57G	probably damaging	Het
Prkcb	A	G	7: 122,143,854 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,911 (GRCm39)	Q169L	probably null	Het
Prl6a1	C	A	13: 27,502,910 (GRCm39)	Q169K	possibly damaging	Het
Psmd14	G	A	2: 61,591,335 (GRCm39)	R46H	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,278,345 (GRCm39)		probably benign	Het
Rbm25	A	T	12: 83,715,219 (GRCm39)	E463D	possibly damaging	Het
Retnlb	A	G	16: 48,637,678 (GRCm39)	I35V	probably benign	Het
Sestd1	A	G	2: 77,071,976 (GRCm39)	Y49H	probably damaging	Het
Setd2	T	A	9: 110,431,306 (GRCm39)	I2378N	probably damaging	Het
Slc26a1	A	T	5: 108,819,740 (GRCm39)	C486*	probably null	Het
Spef2	T	A	15: 9,667,316 (GRCm39)	I791F	probably damaging	Het
Sptb	T	C	12: 76,650,798 (GRCm39)	T1726A	possibly damaging	Het
Stk38l	T	A	6: 146,673,129 (GRCm39)	M296K	probably benign	Het
Taf5	T	C	19: 47,070,285 (GRCm39)	F624L	probably damaging	Het
Tmem30c	G	T	16: 57,086,855 (GRCm39)	T316K	probably damaging	Het
Trpm2	A	G	10: 77,778,839 (GRCm39)	S376P	possibly damaging	Het
Vmn2r82	A	T	10: 79,214,702 (GRCm39)	L228F	probably damaging	Het
Zfp607b	G	A	7: 27,398,087 (GRCm39)	C57Y	possibly damaging	Het
Zfp983	A	G	17: 21,881,269 (GRCm39)	H399R	probably damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	probably benign	Het

Other mutations in Ramp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Ramp2	APN	11	101,138,453 (GRCm39)	missense	probably benign	0.37
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

Predicted Primers

PCR Primer
(F):5'- TGAGGACCAACTGATGCCCTCTAAC -3'
(R):5'- AAGCCCAGCCCAAACTTGTCTG -3'

Sequencing Primer
(F):5'- GCACATGATTGCCATTACAGG -3'
(R):5'- GCATTGTATTCCAAGCAGTTCTG -3'

Posted On

2014-04-13