Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01629:Adm2'

92884

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adm2

Ensembl Gene

ENSMUSG00000054136

Gene Name

adrenomedullin 2

Synonyms

IMD, intermedin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01629

Quality Score

Status

Chromosome

Chromosomal Location

89206923-89208934 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 89207605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000064761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066991]

AlphaFold

Q7TNK8

Predicted Effect

probably null
Transcript: ENSMUST00000066991

SMART Domains

Protein: ENSMUSP00000064761
Gene: ENSMUSG00000054136

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Calc_CGRP_IAPP	61	150	7.4e-9	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the calcitonin gene-related peptide (CGRP)/calcitonin family of hormones that play a role in the regulation of cardiovascular homeostasis, prolactin release, anti-diuresis, anti-natriuresis, and regulation of food and water intake. The encoded protein is proteolytically processed to generate one or more biologically active peptides. Intravenous injection of the active peptide was found to protect mouse lungs from ischemia/reperfusion injury. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Alox12	G	A	11: 70,133,660 (GRCm39)	P555S	probably damaging	Het
Alpk2	A	G	18: 65,433,113 (GRCm39)	S1798P	probably damaging	Het
Amfr	T	A	8: 94,714,136 (GRCm39)		probably null	Het
Arhgef18	T	A	8: 3,431,942 (GRCm39)	C168S	possibly damaging	Het
Atxn7l3	A	T	11: 102,183,320 (GRCm39)		probably benign	Het
Ccdc191	A	G	16: 43,779,663 (GRCm39)	K707E	possibly damaging	Het
Cdc5l	G	T	17: 45,724,116 (GRCm39)	D391E	probably benign	Het
Cmtm2b	T	C	8: 105,056,420 (GRCm39)	S110P	possibly damaging	Het
Cyp2j8	T	C	4: 96,387,840 (GRCm39)	D207G	probably damaging	Het
Ddhd2	A	G	8: 26,225,855 (GRCm39)	F501L	possibly damaging	Het
Dnaaf6rt	T	A	1: 31,262,014 (GRCm39)		probably null	Het
Dnah1	C	T	14: 31,014,277 (GRCm39)	V1823M	probably damaging	Het
Gjb4	T	C	4: 127,245,419 (GRCm39)	D174G	possibly damaging	Het
Gm45213	A	G	7: 65,711,962 (GRCm39)	D58G	probably damaging	Het
Hes1	C	T	16: 29,884,976 (GRCm39)		probably benign	Het
Krt33b	T	A	11: 99,920,386 (GRCm39)	Q89L	probably benign	Het
Llcfc1	C	A	6: 41,661,459 (GRCm39)	S3Y	possibly damaging	Het
Ltf	A	G	9: 110,864,874 (GRCm39)	N569S	probably damaging	Het
Mknk1	T	A	4: 115,732,731 (GRCm39)	W320R	probably damaging	Het
Mrgprx3-ps	T	A	7: 46,959,353 (GRCm39)	K213*	probably null	Het
Mslnl	T	G	17: 25,963,749 (GRCm39)	V388G	possibly damaging	Het
Nfkb1	T	C	3: 135,307,228 (GRCm39)	I566V	probably benign	Het
Npy1r	G	A	8: 67,156,873 (GRCm39)	V98I	probably benign	Het
Phf1	G	T	17: 27,153,247 (GRCm39)	A22S	probably benign	Het
Plcg1	T	G	2: 160,599,930 (GRCm39)	F897V	possibly damaging	Het
Ric1	A	T	19: 29,581,381 (GRCm39)	E1367D	probably benign	Het
Slc24a3	T	C	2: 145,482,130 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,968,565 (GRCm39)		probably null	Het
Speer4a2	C	T	5: 26,290,700 (GRCm39)	S157N	probably damaging	Het
Spink5	T	C	18: 44,129,677 (GRCm39)		probably benign	Het
Syne2	A	G	12: 76,051,377 (GRCm39)	I4036V	possibly damaging	Het
Taok1	A	T	11: 77,429,030 (GRCm39)	M890K	possibly damaging	Het
Tenm2	A	T	11: 36,755,711 (GRCm39)	Y96N	probably damaging	Het
Ttll10	T	A	4: 156,131,351 (GRCm39)	T233S	probably benign	Het
Vps39	G	T	2: 120,154,079 (GRCm39)	L628M	probably benign	Het
Zfp563	G	A	17: 33,323,600 (GRCm39)	R105H	probably damaging	Het

Other mutations in Adm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Adm2	APN	15	89,207,488 (GRCm39)	utr 5 prime	probably benign
IGL03141:Adm2	APN	15	89,207,531 (GRCm39)	missense	probably benign	0.33
R0627:Adm2	UTSW	15	89,208,508 (GRCm39)	nonsense	probably null
R1543:Adm2	UTSW	15	89,208,282 (GRCm39)	missense	probably damaging	0.98
R7812:Adm2	UTSW	15	89,208,367 (GRCm39)	missense	possibly damaging	0.71

Posted On

2013-12-09