Incidental Mutation 'R4935:Adcyap1'
ID 380331
Institutional Source Beutler Lab
Gene Symbol Adcyap1
Ensembl Gene ENSMUSG00000024256
Gene Name adenylate cyclase activating polypeptide 1
Synonyms PACAP
MMRRC Submission 042535-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R4935 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 93506448-93513967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93511541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 172 (I172L)
Ref Sequence ENSEMBL: ENSMUSP00000067057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064775]
AlphaFold O70176
Predicted Effect probably benign
Transcript: ENSMUST00000064775
AA Change: I172L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000067057
Gene: ENSMUSG00000024256
AA Change: I172L

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: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 86.9%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A G 11: 6,150,442 (GRCm39) *138W probably null Het
Abcb1a T A 5: 8,787,773 (GRCm39) probably null Het
Acp6 T C 3: 97,079,060 (GRCm39) probably null Het
Adgrf1 A C 17: 43,606,130 (GRCm39) I85L probably benign Het
Afdn A T 17: 14,111,228 (GRCm39) T1604S probably benign Het
Angpt2 T C 8: 18,742,131 (GRCm39) Y475C probably damaging Het
Ank2 A G 3: 126,749,713 (GRCm39) S439P probably damaging Het
Ank3 T A 10: 69,812,033 (GRCm39) N366K probably damaging Het
Ankrd11 A G 8: 123,626,922 (GRCm39) S87P probably benign Het
Ano7 T A 1: 93,323,036 (GRCm39) S459T possibly damaging Het
Asxl3 G A 18: 22,656,369 (GRCm39) V1460M probably benign Het
Atg16l1 A C 1: 87,694,764 (GRCm39) N147T possibly damaging Het
Atp10a T C 7: 58,463,512 (GRCm39) V1015A probably damaging Het
Atxn7 T A 14: 14,100,401 (GRCm38) S696T probably benign Het
Babam1 C T 8: 71,852,446 (GRCm39) T184I probably benign Het
Blk A G 14: 63,618,711 (GRCm39) S175P possibly damaging Het
Col5a1 T A 2: 27,914,754 (GRCm39) F123L probably damaging Het
Csmd3 T C 15: 48,024,480 (GRCm39) Y496C probably damaging Het
Dnah3 A T 7: 119,615,700 (GRCm39) Y1676* probably null Het
Fdxacb1 T A 9: 50,683,243 (GRCm39) M402K probably benign Het
Frmd5 A G 2: 121,393,405 (GRCm39) V141A possibly damaging Het
Gapvd1 G A 2: 34,594,504 (GRCm39) R685* probably null Het
Grik2 A G 10: 49,116,826 (GRCm39) L645P probably damaging Het
H2aj T A 6: 136,785,681 (GRCm39) V115E possibly damaging Het
Hrh3 T C 2: 179,743,061 (GRCm39) Y189C probably damaging Het
Kcnc2 A G 10: 112,108,133 (GRCm39) T175A probably benign Het
Kcnv2 A G 19: 27,300,332 (GRCm39) Y61C probably damaging Het
Kif24 T C 4: 41,394,939 (GRCm39) R645G probably damaging Het
Knl1 A G 2: 118,899,438 (GRCm39) I380V possibly damaging Het
Lamb2 A G 9: 108,364,700 (GRCm39) I1151M possibly damaging Het
Leo1 A G 9: 75,353,159 (GRCm39) D234G probably benign Het
Lrp1b T G 2: 41,388,405 (GRCm39) N407H probably benign Het
Matn2 T C 15: 34,428,831 (GRCm39) S732P probably damaging Het
Mrps30 A T 13: 118,523,431 (GRCm39) F114I possibly damaging Het
Or1l8 T C 2: 36,817,713 (GRCm39) N138D probably benign Het
Or4f17-ps1 G A 2: 111,357,793 (GRCm39) V45I probably damaging Het
Or5b123 T C 19: 13,597,066 (GRCm39) I180T probably benign Het
Oxr1 T C 15: 41,676,980 (GRCm39) V179A probably benign Het
Plaur A T 7: 24,166,141 (GRCm39) S71C possibly damaging Het
Plbd2 T C 5: 120,624,786 (GRCm39) N461D possibly damaging Het
Plcb2 T A 2: 118,549,396 (GRCm39) Y322F probably damaging Het
Prkab2 T C 3: 97,569,671 (GRCm39) V79A probably damaging Het
Ptpn3 A T 4: 57,197,568 (GRCm39) C774S probably damaging Het
Ring1 A C 17: 34,242,016 (GRCm39) L131R probably benign Het
Rxfp2 G A 5: 149,975,097 (GRCm39) probably null Het
Selenbp1 A T 3: 94,845,269 (GRCm39) I122F probably benign Het
Septin7 A G 9: 25,217,468 (GRCm39) H394R probably benign Het
Slc1a7 G A 4: 107,864,758 (GRCm39) V266I probably damaging Het
Slc2a10 A G 2: 165,359,578 (GRCm39) T481A probably benign Het
Spmap2l T C 5: 77,185,200 (GRCm39) probably null Het
Tapbp A G 17: 34,144,596 (GRCm39) M231V probably benign Het
Tbxas1 A T 6: 38,999,981 (GRCm39) N256I probably benign Het
Uimc1 A G 13: 55,240,998 (GRCm39) I30T probably damaging Het
Usp48 C A 4: 137,377,669 (GRCm39) N231K probably benign Het
Zfhx3 T G 8: 109,674,482 (GRCm39) V1844G possibly damaging Het
Znrf3 A T 11: 5,233,422 (GRCm39) C212S probably damaging 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
R4334:Adcyap1 UTSW 17 93,509,696 (GRCm39) missense probably benign 0.10
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'- AGCGACTCAATGTGTCTCCC -3'
(R):5'- GGTCCACAAAGTATATCTGTGCATTC -3'

Sequencing Primer
(F):5'- AATGTGTCTCCCGCCCCG -3'
(R):5'- AGTATATCTGTGCATTCTCTAGTGC -3'
Posted On 2016-04-15