Incidental Mutation 'R0879:Adm'
ID 81924
Institutional Source Beutler Lab
Gene Symbol Adm
Ensembl Gene ENSMUSG00000030790
Gene Name adrenomedullin
Synonyms AM
MMRRC Submission 039046-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0879 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 110226868-110229027 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110227559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 25 (D25G)
Ref Sequence ENSEMBL: ENSMUSP00000033054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033054]
AlphaFold P97297
Predicted Effect possibly damaging
Transcript: ENSMUST00000033054
AA Change: D25G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033054
Gene: ENSMUSG00000030790
AA Change: D25G

DomainStartEndE-ValueType
Pfam:Calc_CGRP_IAPP 1 149 2.6e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186888
Meta Mutation Damage Score 0.7355 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.3%
Validation Efficiency 100% (41/41)
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 preprohormone which is cleaved to form two biologically active peptides, adrenomedullin and proadrenomedullin N-terminal 20 peptide. Adrenomedullin is a 52 aa peptide with several functions, including vasodilation, regulation of hormone secretion, promotion of angiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit cardiovascular defects, hyrdops fetalis, and lethality at midgestation with defects in placental defects, impaired fetal blood vessel and materal spiral artery remodeling, and decreased uterine NK cell numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T A 9: 63,524,892 (GRCm39) probably benign Het
Adprs C T 4: 126,210,410 (GRCm39) V357I probably benign Het
Akap6 G T 12: 52,927,582 (GRCm39) R164L probably damaging Het
Baz2a A G 10: 127,957,173 (GRCm39) N972S probably damaging Het
Brd2 A T 17: 34,332,420 (GRCm39) V232D probably benign Het
C6 A G 15: 4,792,818 (GRCm39) probably benign Het
Ceacam5 A C 7: 17,491,627 (GRCm39) I666L probably benign Het
Col7a1 T C 9: 108,805,159 (GRCm39) probably benign Het
Dnah17 C T 11: 117,947,661 (GRCm39) probably benign Het
Dnah7a A T 1: 53,467,019 (GRCm39) V3615E possibly damaging Het
Eml6 A G 11: 29,800,816 (GRCm39) probably null Het
Enpp2 T C 15: 54,741,326 (GRCm39) E324G probably damaging Het
Fgd4 A G 16: 16,295,313 (GRCm39) V222A probably damaging Het
Gm4076 A G 13: 85,275,326 (GRCm39) noncoding transcript Het
Gm4775 T C 14: 106,338,227 (GRCm39) noncoding transcript Het
Igsf9b T C 9: 27,245,038 (GRCm39) S1002P probably damaging Het
Jag1 A G 2: 136,942,001 (GRCm39) S244P possibly damaging Het
Klhl41 A T 2: 69,513,827 (GRCm39) probably benign Het
Ltbr A G 6: 125,290,338 (GRCm39) probably benign Het
Megf8 A G 7: 25,037,896 (GRCm39) E804G possibly damaging Het
Mybpc1 G A 10: 88,407,378 (GRCm39) probably benign Het
Npas4 T C 19: 5,036,944 (GRCm39) R407G probably benign Het
Oxnad1 T A 14: 31,821,553 (GRCm39) Y213N probably damaging Het
Pde6d A G 1: 86,473,523 (GRCm39) F91S probably benign Het
Pelp1 A G 11: 70,286,123 (GRCm39) probably benign Het
Plscr2 T C 9: 92,169,846 (GRCm39) Y99H probably damaging Het
Rft1 T C 14: 30,404,705 (GRCm39) probably benign Het
Ryr3 T C 2: 112,860,588 (GRCm39) Y30C probably benign Het
Selenbp2 A G 3: 94,606,863 (GRCm39) T108A possibly damaging Het
Stk32b A G 5: 37,616,940 (GRCm39) probably benign Het
Stra6 T C 9: 58,042,487 (GRCm39) probably null Het
Usp17le A T 7: 104,418,854 (GRCm39) L96Q probably damaging Het
Usp17le G T 7: 104,418,855 (GRCm39) L96M possibly damaging Het
Vmn1r76 A T 7: 11,664,662 (GRCm39) I184N probably benign Het
Vmn2r102 T C 17: 19,914,454 (GRCm39) V673A probably damaging Het
Wdr17 T G 8: 55,114,516 (GRCm39) I667L probably benign Het
Zfp292 T C 4: 34,811,218 (GRCm39) T609A probably benign Het
Zfp821 T C 8: 110,448,474 (GRCm39) I135T possibly damaging Het
Zfp865 A G 7: 5,034,342 (GRCm39) T776A probably benign Het
Zp2 G T 7: 119,734,757 (GRCm39) P477Q probably damaging Het
Other mutations in Adm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Adm APN 7 110,227,788 (GRCm39) missense probably damaging 1.00
IGL01950:Adm APN 7 110,228,107 (GRCm39) missense probably damaging 1.00
IGL01965:Adm APN 7 110,227,832 (GRCm39) missense probably benign 0.04
PIT4696001:Adm UTSW 7 110,227,496 (GRCm39) missense probably benign 0.36
R0497:Adm UTSW 7 110,228,328 (GRCm39) missense probably benign
R0630:Adm UTSW 7 110,227,755 (GRCm39) missense probably damaging 1.00
R1116:Adm UTSW 7 110,227,501 (GRCm39) missense probably benign 0.00
R1595:Adm UTSW 7 110,228,298 (GRCm39) missense probably damaging 1.00
R4880:Adm UTSW 7 110,228,326 (GRCm39) missense probably benign 0.01
R5992:Adm UTSW 7 110,226,903 (GRCm39) start gained probably benign
R6296:Adm UTSW 7 110,227,561 (GRCm39) missense probably benign 0.00
R6387:Adm UTSW 7 110,227,502 (GRCm39) missense possibly damaging 0.74
R7181:Adm UTSW 7 110,228,236 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTGGCACTTCTCAATGGCTTC -3'
(R):5'- AACTGTCGTCTCATCAGCGAGTCC -3'

Sequencing Primer
(F):5'- GCGCAAAAATCTCCGGTG -3'
(R):5'- TCATCAGCGAGTCCCGTAG -3'
Posted On 2013-11-08