Incidental Mutation 'R4334:Adcyap1'
ID 323719
Institutional Source Beutler Lab
Gene Symbol Adcyap1
Ensembl Gene ENSMUSG00000024256
Gene Name adenylate cyclase activating polypeptide 1
Synonyms PACAP
MMRRC Submission 041664-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R4334 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 93506448-93513967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93509696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 49 (L49P)
Ref Sequence ENSEMBL: ENSMUSP00000067057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064775]
AlphaFold O70176
Predicted Effect probably benign
Transcript: ENSMUST00000064775
AA Change: L49P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000067057
Gene: ENSMUSG00000024256
AA Change: L49P

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,537,242 (GRCm39) V447E probably damaging Het
B4galt4 T C 16: 38,572,621 (GRCm39) I102T probably damaging Het
Cc2d2a A G 5: 43,840,476 (GRCm39) D110G probably benign Het
Ccdc141 C T 2: 77,000,776 (GRCm39) V19I probably damaging Het
Ccdc39 A G 3: 33,892,031 (GRCm39) L147P probably damaging Het
Cdc5l A T 17: 45,721,712 (GRCm39) D519E probably benign Het
Cdh23 G T 10: 60,220,838 (GRCm39) T1305K probably damaging Het
Cfi T A 3: 129,644,478 (GRCm39) V158D possibly damaging Het
Clstn2 T G 9: 97,345,581 (GRCm39) Y589S probably damaging Het
Dsp A G 13: 38,380,640 (GRCm39) K1863E possibly damaging Het
Enpp3 A T 10: 24,669,487 (GRCm39) M491K probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fkbp15 G A 4: 62,221,456 (GRCm39) A1170V possibly damaging Het
Foxa2 T C 2: 147,886,623 (GRCm39) N64S possibly damaging Het
Foxm1 T C 6: 128,342,930 (GRCm39) I88T probably damaging Het
Gm3173 A T 14: 15,728,364 (GRCm39) I8L possibly damaging Het
Gpatch3 A G 4: 133,309,792 (GRCm39) D375G probably damaging Het
Herc2 T C 7: 55,876,402 (GRCm39) F4436L probably damaging Het
Htr3b G A 9: 48,856,809 (GRCm39) A223V probably damaging Het
Iars2 T A 1: 185,035,591 (GRCm39) T550S probably benign Het
Igsf9 A T 1: 172,321,779 (GRCm39) K149* probably null Het
Khnyn A G 14: 56,131,499 (GRCm39) D536G probably damaging Het
Kng1 T C 16: 22,898,370 (GRCm39) V409A possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Madd C T 2: 90,970,917 (GRCm39) V1508I probably benign Het
Micall2 T C 5: 139,699,105 (GRCm39) E527G probably damaging Het
Myo7b A G 18: 32,110,040 (GRCm39) S1141P probably damaging Het
Ncoa2 G A 1: 13,245,187 (GRCm39) P504S possibly damaging Het
Notch1 G A 2: 26,350,048 (GRCm39) T2364I probably benign Het
Pde4c T A 8: 71,202,475 (GRCm39) probably null Het
Pik3cb A G 9: 98,943,904 (GRCm39) L633P probably damaging Het
Ranbp2 T A 10: 58,299,816 (GRCm39) D483E probably damaging Het
Sh3tc2 A G 18: 62,123,392 (GRCm39) N718D probably damaging Het
Spast G A 17: 74,659,010 (GRCm39) A126T probably damaging Het
Ssc5d T C 7: 4,946,663 (GRCm39) S1006P probably benign Het
Tmprss6 T A 15: 78,343,627 (GRCm39) probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Unc79 C T 12: 103,045,233 (GRCm39) T803M probably benign Het
Vmn2r118 A T 17: 55,917,347 (GRCm39) F388L possibly damaging Het
Vmn2r71 T C 7: 85,269,042 (GRCm39) V415A probably benign Het
Wdr4 A T 17: 31,718,126 (GRCm39) F316Y possibly damaging Het
Zfp810 T C 9: 22,190,080 (GRCm39) Y276C probably benign Het
Other mutations in Adcyap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Adcyap1 APN 17 93,511,392 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- TTGTTCCCGGGACCATTCTG -3'
(R):5'- TCTGTAGCTCTCATGGGAAGG -3'

Sequencing Primer
(F):5'- TCTGGAAGTAAGGGCAATTCTCC -3'
(R):5'- GGGAGGCTTAAAGACCCTTC -3'
Posted On 2015-06-24