Incidental Mutation 'IGL01665:Adcyap1'
ID103287
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? Possibly non essential (E-score: 0.429) question?
Stock #IGL01665
Quality Score
Status
Chromosome17
Chromosomal Location93199422-93205485 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 93200078 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 22 (V22D)
Ref Sequence ENSEMBL: ENSMUSP00000067057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064775]
Predicted Effect probably damaging
Transcript: ENSMUST00000064775
AA Change: V22D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067057
Gene: ENSMUSG00000024256
AA Change: V22D

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik G T 7: 131,246,657 G847* probably null Het
Acsbg1 T A 9: 54,622,720 I231L probably benign Het
Adgra3 T C 5: 50,006,930 T236A possibly damaging Het
Adipor2 A T 6: 119,361,926 L122H probably benign Het
Atp1a4 T C 1: 172,246,724 I321V probably benign Het
Bhmt2 A T 13: 93,663,153 Y258* probably null Het
C230029F24Rik T A 1: 49,338,094 noncoding transcript Het
Ccpg1 T A 9: 73,005,877 F232I probably damaging Het
Cd83 A T 13: 43,801,677 T195S probably benign Het
Cfap70 G A 14: 20,403,118 T897M probably damaging Het
Cyp3a11 T A 5: 145,868,665 M181L probably benign Het
Frem2 C T 3: 53,549,662 V2090I probably benign Het
Gm45234 A G 6: 124,746,608 probably benign Het
Gm7964 T A 7: 83,757,133 noncoding transcript Het
Igsf9 T A 1: 172,492,171 C39* probably null Het
Il1rap A T 16: 26,722,713 D568V probably damaging Het
Ints7 C T 1: 191,613,219 probably benign Het
Lsamp C T 16: 42,144,012 R250* probably null Het
Oit3 T A 10: 59,438,909 D23V probably damaging Het
Pcdh17 T A 14: 84,447,002 L303Q probably damaging Het
Pcdhb1 T A 18: 37,267,397 N800K probably benign Het
Plce1 A G 19: 38,524,887 D210G probably benign Het
Plekhb2 T A 1: 34,869,330 Y152N probably damaging Het
Rbp3 T C 14: 33,956,131 S679P probably benign Het
Rps6kc1 T C 1: 190,911,657 T2A possibly damaging Het
Tmem167 T A 13: 90,098,385 S9R probably damaging Het
Xpnpep1 A T 19: 52,997,032 S522T probably benign Het
Other mutations in Adcyap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Adcyap1 APN 17 93203964 missense probably benign 0.05
IGL01551:Adcyap1 APN 17 93204018 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
Posted On2014-01-21