Incidental Mutation 'IGL00861:Adm2'
ID29017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adm2
Ensembl Gene ENSMUSG00000054136
Gene Nameadrenomedullin 2
SynonymsIMD, intermedin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00861
Quality Score
Status
Chromosome15
Chromosomal Location89322720-89324731 bp(+) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) G to A at 89323285 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000064761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066991]
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: 91,770,926 D189E possibly damaging Het
Atg16l1 G A 1: 87,774,838 G274S probably damaging Het
Cdh7 C A 1: 110,060,988 probably benign Het
Chat T C 14: 32,449,023 Y173C probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Ctnnd1 T C 2: 84,603,752 D874G probably damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Depdc5 T C 5: 32,967,814 probably null Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fut10 G T 8: 31,235,705 V163F probably damaging Het
Glmn A T 5: 107,570,139 M304K possibly damaging Het
Klra6 A G 6: 130,023,700 V47A possibly damaging Het
Lgi2 T C 5: 52,538,121 K491E probably benign Het
Lrrc72 T A 12: 36,221,508 Q138L probably benign Het
Nxph2 T A 2: 23,399,962 F109I probably damaging Het
Oosp3 A G 19: 11,711,640 D84G probably benign Het
Pdzd3 A G 9: 44,249,636 L211P possibly damaging Het
Poc1b C T 10: 99,129,652 R106C probably benign Het
Ptk2 A G 15: 73,262,547 S568P probably damaging Het
Slc4a5 A G 6: 83,299,471 I1093V probably benign Het
Snx2 G A 18: 53,210,797 probably null Het
Washc5 G T 15: 59,337,276 T1033K probably damaging Het
Other mutations in Adm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Adm2 APN 15 89323402 critical splice donor site probably null
IGL03141:Adm2 APN 15 89323328 missense probably benign 0.33
R0627:Adm2 UTSW 15 89324305 nonsense probably null
R1543:Adm2 UTSW 15 89324079 missense probably damaging 0.98
R7812:Adm2 UTSW 15 89324164 missense possibly damaging 0.71
Posted On2013-04-17