Incidental Mutation 'IGL01336:Adcyap1'
| ID |
74642 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adcyap1
|
| Ensembl Gene |
ENSMUSG00000024256 |
| Gene Name |
adenylate cyclase activating polypeptide 1 |
| Synonyms |
PACAP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
IGL01336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
93506448-93513967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93511392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 122
(D122G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064775]
|
| AlphaFold |
O70176 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064775
AA Change: D122G
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000067057
Gene: ENSMUSG00000024256
AA Change: D122G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GLUCA
|
82 |
108 |
3.4e-4 |
SMART |
|
GLUCA
|
131 |
157 |
3.99e-10 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the glucagon superfamily of hormones that have important roles in growth and metabolism. The encoded protein undergoes proteolytic processing to generate mature peptides that function as hypophysiotropic hormones, neurotransmitters, neuromodulators and vasoregulators. Mice lacking the encoded protein exhibit a high rate of early mortality. The surviving adult animals lacking the encoded protein exhibit decreased anxiety, hyperactive behavior and impaired steroidogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit high postnatal mortality, impaired thermoregulation, and loss of white fat. Survivors show ketosis, microvesicular fat accumulation, elevated serum lipids, and behavioral abnormalities. [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 |
|---|
| Acly |
G |
T |
11: 100,386,736 (GRCm39) |
L599I |
probably benign |
Het |
| Ahr |
A |
G |
12: 35,553,839 (GRCm39) |
V760A |
probably benign |
Het |
| Ankrd7 |
T |
C |
6: 18,868,277 (GRCm39) |
V133A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,984 (GRCm39) |
V2256A |
probably damaging |
Het |
| Cblb |
A |
G |
16: 52,006,592 (GRCm39) |
K765E |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,693,906 (GRCm39) |
*374W |
probably null |
Het |
| Ddc |
A |
G |
11: 11,796,630 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,852,576 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Ei24 |
A |
G |
9: 36,697,777 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,201,493 (GRCm39) |
M118T |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,616,773 (GRCm39) |
S107P |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,387,237 (GRCm39) |
Y203C |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,964,734 (GRCm39) |
|
probably benign |
Het |
| Mrps14 |
G |
A |
1: 160,024,565 (GRCm39) |
W32* |
probably null |
Het |
| Naaa |
A |
C |
5: 92,412,992 (GRCm39) |
M208R |
probably benign |
Het |
| Nat2 |
A |
G |
8: 67,954,193 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,896,443 (GRCm39) |
S449G |
probably benign |
Het |
| Or4e5 |
A |
G |
14: 52,728,205 (GRCm39) |
I72T |
probably damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,997 (GRCm39) |
I53V |
probably benign |
Het |
| Phykpl |
G |
A |
11: 51,490,283 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,150,028 (GRCm39) |
|
noncoding transcript |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,583 (GRCm39) |
M631L |
probably benign |
Het |
| Rgma |
G |
A |
7: 73,059,066 (GRCm39) |
V57M |
possibly damaging |
Het |
| Samd4b |
G |
T |
7: 28,113,388 (GRCm39) |
D192E |
probably benign |
Het |
| Sesn2 |
T |
C |
4: 132,226,678 (GRCm39) |
T139A |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,715,834 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,793,784 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Stra8 |
T |
C |
6: 34,910,123 (GRCm39) |
Y182H |
possibly damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,269 (GRCm39) |
A395E |
probably damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,259,148 (GRCm39) |
R67L |
probably damaging |
Het |
| Trpa1 |
A |
C |
1: 14,957,104 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
G |
A |
6: 34,886,478 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Adcyap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01551:Adcyap1
|
APN |
17 |
93,511,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01665:Adcyap1
|
APN |
17 |
93,507,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Adcyap1
|
UTSW |
17 |
93,510,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1459:Adcyap1
|
UTSW |
17 |
93,507,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2191:Adcyap1
|
UTSW |
17 |
93,507,454 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2348:Adcyap1
|
UTSW |
17 |
93,509,702 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4334:Adcyap1
|
UTSW |
17 |
93,509,696 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4935:Adcyap1
|
UTSW |
17 |
93,511,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6329:Adcyap1
|
UTSW |
17 |
93,510,227 (GRCm39) |
missense |
probably benign |
|
|
R6337:Adcyap1
|
UTSW |
17 |
93,509,709 (GRCm39) |
nonsense |
probably null |
|
|
R7414:Adcyap1
|
UTSW |
17 |
93,510,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7527:Adcyap1
|
UTSW |
17 |
93,510,257 (GRCm39) |
nonsense |
probably null |
|
|
R7839:Adcyap1
|
UTSW |
17 |
93,511,413 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Posted On |
2013-10-07 |
Incidental Mutation