Incidental Mutation 'R3621:Gcg'
| ID |
268622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gcg
|
| Ensembl Gene |
ENSMUSG00000000394 |
| Gene Name |
glucagon |
| Synonyms |
Glu, GLP-1, glucagon-like peptide I, PPG |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R3621 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
62304874-62313994 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62307279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 94
(E94G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102733]
[ENSMUST00000136686]
|
| AlphaFold |
P55095 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102733
AA Change: E94G
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099794
Gene: ENSMUSG00000000394
AA Change: E94G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
GLUCA
|
53 |
79 |
7.5e-15 |
SMART |
|
GLUCA
|
98 |
124 |
4.06e-11 |
SMART |
|
GLUCA
|
146 |
172 |
1.97e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136686
AA Change: E94G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115892
Gene: ENSMUSG00000000394
AA Change: E94G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
GLUCA
|
53 |
79 |
7.5e-15 |
SMART |
|
GLUCA
|
98 |
124 |
4.06e-11 |
SMART |
|
GLUCA
|
146 |
172 |
1.97e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155624
|
| Meta Mutation Damage Score |
0.0955 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes glucagon, a pancreatic hormone that counteracts the action of insulin in the bloodstream. The encoded protein is processed to generate glucagon and two other glucagon-like peptides, GLP1 and GLP2. Glucagon stimulates gluconeogenesis, glycogenolysis and lipolysis. GLP1 induces secretion of insulin, suppresses glucagon secretion and inhibits feeding. GLP2 induces intestinal absorption of glucose by stimulating the growth of intestinal cells and preventing apoptosis. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit islet alpha cell hyperplasia and increased body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,140,735 (GRCm39) |
S161P |
probably damaging |
Het |
| Atp8a2 |
C |
A |
14: 60,263,587 (GRCm39) |
|
probably null |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,962,928 (GRCm39) |
V648A |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,042,684 (GRCm39) |
S2350G |
probably benign |
Het |
| Enpp6 |
T |
C |
8: 47,518,540 (GRCm39) |
W223R |
probably benign |
Het |
| Erich3 |
T |
C |
3: 154,454,369 (GRCm39) |
Y515H |
possibly damaging |
Het |
| Fam118a |
T |
C |
15: 84,930,002 (GRCm39) |
F77L |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,810,602 (GRCm39) |
T2307K |
probably benign |
Het |
| Hdc |
T |
A |
2: 126,458,187 (GRCm39) |
Y45F |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspa8 |
A |
T |
9: 40,713,219 (GRCm39) |
M1L |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,413,014 (GRCm39) |
V179M |
probably damaging |
Het |
| Mettl4 |
T |
C |
17: 95,042,936 (GRCm39) |
Y300C |
probably damaging |
Het |
| Or7d10 |
T |
C |
9: 19,832,209 (GRCm39) |
Y235H |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,710,232 (GRCm39) |
D619G |
probably damaging |
Het |
| Pnpla1 |
C |
T |
17: 29,096,362 (GRCm39) |
A147V |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,185,222 (GRCm39) |
F111L |
probably damaging |
Het |
| Tep1 |
G |
A |
14: 51,066,477 (GRCm39) |
R2328C |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,951,640 (GRCm39) |
V820A |
probably benign |
Het |
| Timd2 |
G |
A |
11: 46,569,040 (GRCm39) |
T206I |
probably benign |
Het |
| Zfp445 |
C |
T |
9: 122,681,833 (GRCm39) |
A703T |
probably benign |
Het |
| Zpbp2 |
A |
G |
11: 98,443,382 (GRCm39) |
T18A |
probably benign |
Het |
|
| Other mutations in Gcg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01483:Gcg
|
APN |
2 |
62,310,827 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02582:Gcg
|
APN |
2 |
62,308,922 (GRCm39) |
nonsense |
probably null |
|
|
R0466:Gcg
|
UTSW |
2 |
62,307,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3620:Gcg
|
UTSW |
2 |
62,307,279 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4744:Gcg
|
UTSW |
2 |
62,308,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Gcg
|
UTSW |
2 |
62,307,189 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5807:Gcg
|
UTSW |
2 |
62,306,069 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5971:Gcg
|
UTSW |
2 |
62,306,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6138:Gcg
|
UTSW |
2 |
62,306,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7191:Gcg
|
UTSW |
2 |
62,307,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Gcg
|
UTSW |
2 |
62,306,103 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8188:Gcg
|
UTSW |
2 |
62,309,004 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8746:Gcg
|
UTSW |
2 |
62,305,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Gcg
|
UTSW |
2 |
62,306,408 (GRCm39) |
intron |
probably benign |
|
|
R9273:Gcg
|
UTSW |
2 |
62,306,133 (GRCm39) |
missense |
probably null |
0.44 |
|
U15987:Gcg
|
UTSW |
2 |
62,306,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAACATTGTGTGGCTAGCTC -3'
(R):5'- GTCATTAGCCTTTCCCCACAAAG -3'
Sequencing Primer
(F):5'- CGGTACAGTTTTTCCCATCGGATAG -3'
(R):5'- TTTCCCCACAAAGTTTCAATCCAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation