Incidental Mutation 'IGL01950:Adm'
| ID |
181298 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adm
|
| Ensembl Gene |
ENSMUSG00000030790 |
| Gene Name |
adrenomedullin |
| Synonyms |
AM |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
110226868-110229027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110228107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 96
(R96H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033054]
|
| AlphaFold |
P97297 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033054
AA Change: R96H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033054
Gene: ENSMUSG00000030790
AA Change: R96H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calc_CGRP_IAPP
|
1 |
149 |
2.6e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186888
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
C |
T |
11: 5,819,108 (GRCm39) |
T198I |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,702,257 (GRCm39) |
I500N |
probably damaging |
Het |
| Clec1b |
T |
A |
6: 129,377,043 (GRCm39) |
W29R |
probably damaging |
Het |
| Cyp2e1 |
T |
C |
7: 140,344,874 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,290,435 (GRCm39) |
E1275G |
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,067,631 (GRCm39) |
I1171N |
possibly damaging |
Het |
| Dpf3 |
T |
G |
12: 83,371,723 (GRCm39) |
T171P |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
| Kcnc2 |
T |
G |
10: 112,297,980 (GRCm39) |
|
probably benign |
Het |
| Kcnj11 |
A |
T |
7: 45,748,573 (GRCm39) |
F250Y |
probably damaging |
Het |
| Kirrel3 |
C |
T |
9: 34,939,625 (GRCm39) |
|
probably benign |
Het |
| Lmbrd1 |
T |
C |
1: 24,750,683 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
C |
2: 119,772,135 (GRCm39) |
V1665A |
possibly damaging |
Het |
| Ms4a3 |
G |
T |
19: 11,610,199 (GRCm39) |
A121E |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,440,415 (GRCm39) |
*392W |
probably null |
Het |
| Noxred1 |
C |
T |
12: 87,268,190 (GRCm39) |
V314M |
probably damaging |
Het |
| Or2t47 |
A |
T |
11: 58,442,560 (GRCm39) |
C168* |
probably null |
Het |
| Or51aa5 |
T |
A |
7: 103,167,472 (GRCm39) |
T40S |
probably benign |
Het |
| Phospho1 |
A |
G |
11: 95,719,548 (GRCm39) |
|
probably benign |
Het |
| Prr5 |
G |
A |
15: 84,650,550 (GRCm39) |
A237T |
probably benign |
Het |
| Rev3l |
C |
T |
10: 39,697,153 (GRCm39) |
T550M |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,965,032 (GRCm39) |
F955L |
probably benign |
Het |
| Slc38a9 |
C |
T |
13: 112,831,787 (GRCm39) |
T179M |
probably damaging |
Het |
| Trpv5 |
T |
G |
6: 41,652,912 (GRCm39) |
D87A |
probably benign |
Het |
| Tubgcp5 |
A |
G |
7: 55,455,836 (GRCm39) |
Q288R |
possibly damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,700,058 (GRCm39) |
Y172H |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,845 (GRCm39) |
F733L |
possibly damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,264,827 (GRCm39) |
Y53C |
probably damaging |
Het |
| Vwa5a |
T |
A |
9: 38,638,266 (GRCm39) |
M263K |
probably damaging |
Het |
| Zfp503 |
C |
A |
14: 22,036,488 (GRCm39) |
A143S |
probably benign |
Het |
| Zfp958 |
T |
C |
8: 4,678,917 (GRCm39) |
L314P |
probably damaging |
Het |
|
| Other mutations in Adm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00793:Adm
|
APN |
7 |
110,227,788 (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 |
|
R0879:Adm
|
UTSW |
7 |
110,227,559 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation