Incidental Mutation 'IGL03141:Adm2'
ID 410685
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 # IGL03141
Quality Score
Status
Chromosome 15
Chromosomal Location 89206923-89208934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89207531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 14 (I14T)
Ref Sequence ENSEMBL: ENSMUSP00000064761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066991]
AlphaFold Q7TNK8
Predicted Effect probably benign
Transcript: ENSMUST00000066991
AA Change: I14T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000064761
Gene: ENSMUSG00000054136
AA Change: I14T

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AY761185 G A 8: 21,434,576 (GRCm39) R51C possibly damaging Het
Cenpt T A 8: 106,578,573 (GRCm39) T15S probably damaging Het
Cotl1 T C 8: 120,537,022 (GRCm39) K131E possibly damaging Het
D5Ertd579e T A 5: 36,770,621 (GRCm39) D1258V possibly damaging Het
Decr1 A T 4: 15,932,902 (GRCm39) I88K probably damaging Het
Efcab3 T C 11: 104,986,696 (GRCm39) S5408P probably damaging Het
Gsto2 T C 19: 47,863,312 (GRCm39) Y63H probably damaging Het
Lrp2 A T 2: 69,307,370 (GRCm39) D2896E probably damaging Het
Lrrc3b T G 14: 15,358,390 (GRCm38) D72A probably damaging Het
Npas1 T C 7: 16,199,063 (GRCm39) E164G probably damaging Het
Or6f1 T A 7: 85,970,909 (GRCm39) I84F probably damaging Het
Parp14 C A 16: 35,659,663 (GRCm39) R1653L probably benign Het
Polq A G 16: 36,837,720 (GRCm39) probably benign Het
Sec31b A T 19: 44,514,759 (GRCm39) probably benign Het
Slc7a11 C T 3: 50,336,334 (GRCm39) A337T possibly damaging Het
Snapc3 A G 4: 83,353,523 (GRCm39) I187M probably damaging Het
Sorcs2 T C 5: 36,222,699 (GRCm39) E352G probably benign Het
Spout1 A C 2: 30,065,067 (GRCm39) V311G probably damaging Het
Syne1 T A 10: 5,374,261 (GRCm39) K182M probably damaging Het
Vmn2r110 A G 17: 20,803,976 (GRCm39) S200P possibly damaging Het
Other mutations in Adm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Adm2 APN 15 89,207,488 (GRCm39) utr 5 prime probably benign
IGL01629:Adm2 APN 15 89,207,605 (GRCm39) critical splice donor site probably null
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 2016-08-02