Incidental Mutation 'IGL01336:Adcyap1'
ID74642
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adcyap1
Ensembl Gene ENSMUSG00000024256
Gene Nameadenylate cyclase activating polypeptide 1
SynonymsPACAP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.173) question?
Stock #IGL01336
Quality Score
Status
Chromosome17
Chromosomal Location93199422-93205485 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93203964 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly G T 11: 100,495,910 L599I probably benign Het
Ahr A G 12: 35,503,840 V760A probably benign Het
Ankrd7 T C 6: 18,868,278 V133A probably benign Het
Bsn A G 9: 108,111,785 V2256A probably damaging Het
Cblb A G 16: 52,186,229 K765E probably benign Het
Clmp A G 9: 40,782,610 *374W probably null Het
Ddc A G 11: 11,846,630 probably null Het
Dnah10 A G 5: 124,775,512 Y1878C probably damaging Het
Ei24 A G 9: 36,786,481 probably null Het
Gm12394 T A 4: 42,793,784 Q116L possibly damaging Het
Gm8394 T C 10: 85,314,164 noncoding transcript Het
Ikbke A G 1: 131,273,756 M118T probably damaging Het
Il6st T C 13: 112,480,239 S107P possibly damaging Het
Map2k6 A G 11: 110,496,411 Y203C probably damaging Het
Mettl27 C T 5: 134,935,880 probably benign Het
Mrps14 G A 1: 160,196,995 W32* probably null Het
Naaa A C 5: 92,265,133 M208R probably benign Het
Nat2 A G 8: 67,501,541 Y101C probably damaging Het
Ncoa3 A G 2: 166,054,523 S449G probably benign Het
Olfr1507 A G 14: 52,490,748 I72T probably damaging Het
Olfr5 T C 7: 6,480,998 I53V probably benign Het
Phykpl G A 11: 51,599,456 probably benign Het
Rasgrf1 A T 9: 89,991,530 M631L probably benign Het
Rgma G A 7: 73,409,318 V57M possibly damaging Het
Samd4b G T 7: 28,413,963 D192E probably benign Het
Sesn2 T C 4: 132,499,367 T139A probably benign Het
Slc30a6 A G 17: 74,408,839 probably benign Het
Stra8 T C 6: 34,933,188 Y182H possibly damaging Het
Trim31 C A 17: 36,909,377 A395E probably damaging Het
Trp53bp2 G T 1: 182,431,583 R67L probably damaging Het
Trpa1 A C 1: 14,886,880 probably benign Het
Wdr91 G A 6: 34,909,543 probably benign Het
Other mutations in Adcyap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:Adcyap1 APN 17 93204018 missense probably damaging 1.00
IGL01665:Adcyap1 APN 17 93200078 missense probably damaging 1.00
R0325:Adcyap1 UTSW 17 93202832 missense probably benign 0.00
R1459:Adcyap1 UTSW 17 93200122 critical splice donor site probably null
R2191:Adcyap1 UTSW 17 93200026 missense possibly damaging 0.88
R2348:Adcyap1 UTSW 17 93202274 missense possibly damaging 0.92
R4334:Adcyap1 UTSW 17 93202268 missense probably benign 0.10
R4935:Adcyap1 UTSW 17 93204113 missense probably benign 0.01
R6329:Adcyap1 UTSW 17 93202799 missense probably benign
R6337:Adcyap1 UTSW 17 93202281 nonsense probably null
R7414:Adcyap1 UTSW 17 93202828 missense probably damaging 1.00
R7527:Adcyap1 UTSW 17 93202829 nonsense probably null
R7839:Adcyap1 UTSW 17 93203985 missense probably benign 0.17
Posted On2013-10-07