Incidental Mutation 'IGL02281:Agrp'
| ID |
289819 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agrp
|
| Ensembl Gene |
ENSMUSG00000005705 |
| Gene Name |
agouti related neuropeptide |
| Synonyms |
Agrt, agouti related protein |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02281
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106293327-106306477 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106293786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 60
(E60G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005849]
[ENSMUST00000013304]
[ENSMUST00000194091]
[ENSMUST00000194654]
|
| AlphaFold |
P56473 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005849
AA Change: E60G
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000005849
Gene: ENSMUSG00000005705
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
Agouti
|
1 |
121 |
2.01e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013304
|
| SMART Domains |
Protein: ENSMUSP00000013304
Gene: ENSMUSG00000013160
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:vATP-synt_AC39
|
16 |
347 |
2.4e-116 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192691
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194091
AA Change: E60G
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000142044
Gene: ENSMUSG00000005705
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
Agouti
|
1 |
121 |
2.01e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194654
AA Change: E60G
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000141783
Gene: ENSMUSG00000005705
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
Agouti
|
1 |
118 |
1.2e-54 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195108
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein that regulates feeding behavior and plays a key role in the control of body weight. The encoded protein acts as an antagonist of melanocortin receptor signaling. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a null mutation do not exhibit any detectable abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
T |
G |
11: 61,107,949 (GRCm39) |
|
probably null |
Het |
| Bach2 |
T |
C |
4: 32,562,513 (GRCm39) |
C327R |
possibly damaging |
Het |
| Bcam |
C |
T |
7: 19,492,616 (GRCm39) |
G523D |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
| Calm1 |
A |
T |
12: 100,171,883 (GRCm39) |
I112F |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,895,656 (GRCm39) |
V542A |
probably benign |
Het |
| Clec5a |
A |
T |
6: 40,561,336 (GRCm39) |
D36E |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,459,563 (GRCm39) |
C321S |
possibly damaging |
Het |
| Cmtr1 |
T |
A |
17: 29,910,255 (GRCm39) |
D453E |
probably benign |
Het |
| Cntnap1 |
T |
A |
11: 101,073,080 (GRCm39) |
D561E |
possibly damaging |
Het |
| Cul5 |
A |
G |
9: 53,546,349 (GRCm39) |
V137A |
possibly damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,529 (GRCm39) |
Y389C |
probably damaging |
Het |
| Ddi2 |
A |
G |
4: 141,419,730 (GRCm39) |
V340A |
probably benign |
Het |
| Etv4 |
T |
C |
11: 101,664,545 (GRCm39) |
Y235C |
probably damaging |
Het |
| Gm3099 |
G |
A |
14: 15,347,225 (GRCm39) |
|
probably benign |
Het |
| Gpsm1 |
T |
A |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
A |
G |
7: 79,745,550 (GRCm39) |
|
probably null |
Het |
| Kit |
G |
A |
5: 75,815,194 (GRCm39) |
E973K |
possibly damaging |
Het |
| Lilra5 |
A |
G |
7: 4,241,782 (GRCm39) |
I194V |
probably benign |
Het |
| Lrp6 |
A |
C |
6: 134,434,697 (GRCm39) |
N1335K |
probably benign |
Het |
| Map9 |
G |
A |
3: 82,298,453 (GRCm39) |
E613K |
possibly damaging |
Het |
| Mroh2b |
G |
A |
15: 4,981,745 (GRCm39) |
A1519T |
probably benign |
Het |
| Nefm |
A |
G |
14: 68,361,913 (GRCm39) |
V117A |
probably damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,131,495 (GRCm39) |
S186T |
probably benign |
Het |
| Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
| Plcd1 |
A |
T |
9: 118,903,841 (GRCm39) |
C334S |
probably benign |
Het |
| Pomt1 |
T |
C |
2: 32,138,658 (GRCm39) |
S425P |
possibly damaging |
Het |
| Pspc1 |
G |
T |
14: 56,960,635 (GRCm39) |
P497T |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,948,651 (GRCm39) |
P58L |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,086,896 (GRCm39) |
T435A |
probably damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,869,777 (GRCm39) |
L746P |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,680,446 (GRCm39) |
E202G |
possibly damaging |
Het |
| Slc25a38 |
T |
C |
9: 119,946,598 (GRCm39) |
S111P |
probably damaging |
Het |
| Tfcp2l1 |
T |
C |
1: 118,597,110 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
A |
T |
15: 76,518,274 (GRCm39) |
L566H |
probably damaging |
Het |
| Tsc1 |
C |
A |
2: 28,553,607 (GRCm39) |
D153E |
probably damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,220,881 (GRCm39) |
H327Q |
possibly damaging |
Het |
|
| Other mutations in Agrp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01818:Agrp
|
APN |
8 |
106,294,018 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02186:Agrp
|
APN |
8 |
106,293,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1613:Agrp
|
UTSW |
8 |
106,293,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Agrp
|
UTSW |
8 |
106,293,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Agrp
|
UTSW |
8 |
106,293,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1745:Agrp
|
UTSW |
8 |
106,293,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1746:Agrp
|
UTSW |
8 |
106,293,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Agrp
|
UTSW |
8 |
106,293,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Agrp
|
UTSW |
8 |
106,293,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Agrp
|
UTSW |
8 |
106,293,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2495:Agrp
|
UTSW |
8 |
106,293,408 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4860:Agrp
|
UTSW |
8 |
106,294,000 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4860:Agrp
|
UTSW |
8 |
106,294,000 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5777:Agrp
|
UTSW |
8 |
106,294,000 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation