Incidental Mutation 'IGL00861:Adm2'
ID 29017
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 # IGL00861
Quality Score
Status
Chromosome 15
Chromosomal Location 89206923-89208934 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) G to A at 89207488 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 benign
Transcript: ENSMUST00000066991
SMART Domains Protein: ENSMUSP00000064761
Gene: ENSMUSG00000054136

DomainStartEndE-ValueType
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 T A 2: 91,601,271 (GRCm39) D189E possibly damaging Het
Atg16l1 G A 1: 87,702,560 (GRCm39) G274S probably damaging Het
Cdh20 C A 1: 109,988,718 (GRCm39) probably benign Het
Chat T C 14: 32,170,980 (GRCm39) Y173C probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Ctnnd1 T C 2: 84,434,096 (GRCm39) D874G probably damaging Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Depdc5 T C 5: 33,125,158 (GRCm39) probably null Het
Eef1b2 G A 1: 63,217,665 (GRCm39) G91R probably damaging Het
Fut10 G T 8: 31,725,733 (GRCm39) V163F probably damaging Het
Glmn A T 5: 107,718,005 (GRCm39) M304K possibly damaging Het
Klra6 A G 6: 130,000,663 (GRCm39) V47A possibly damaging Het
Lgi2 T C 5: 52,695,463 (GRCm39) K491E probably benign Het
Lrrc72 T A 12: 36,271,507 (GRCm39) Q138L probably benign Het
Nherf4 A G 9: 44,160,933 (GRCm39) L211P possibly damaging Het
Nxph2 T A 2: 23,289,974 (GRCm39) F109I probably damaging Het
Oosp3 A G 19: 11,689,004 (GRCm39) D84G probably benign Het
Poc1b C T 10: 98,965,514 (GRCm39) R106C probably benign Het
Ptk2 A G 15: 73,134,396 (GRCm39) S568P probably damaging Het
Slc4a5 A G 6: 83,276,453 (GRCm39) I1093V probably benign Het
Snx2 G A 18: 53,343,869 (GRCm39) probably null Het
Washc5 G T 15: 59,209,125 (GRCm39) T1033K probably damaging Het
Other mutations in Adm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Adm2 APN 15 89,207,605 (GRCm39) critical splice donor site probably null
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 2013-04-17