Incidental Mutation 'R7527:Adcyap1'
ID 583100
Institutional Source Beutler Lab
Gene Symbol Adcyap1
Ensembl Gene ENSMUSG00000024256
Gene Name adenylate cyclase activating polypeptide 1
Synonyms PACAP
MMRRC Submission 045599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R7527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 93506448-93513967 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 93510257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 95 (L95*)
Ref Sequence ENSEMBL: ENSMUSP00000067057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064775]
AlphaFold O70176
Predicted Effect probably null
Transcript: ENSMUST00000064775
AA Change: L95*
SMART Domains Protein: ENSMUSP00000067057
Gene: ENSMUSG00000024256
AA Change: L95*

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,218,556 (GRCm39) probably null Het
Abcc10 A G 17: 46,623,830 (GRCm39) S810P possibly damaging Het
Adam22 T C 5: 8,132,239 (GRCm39) H138R possibly damaging Het
Adgrl4 C A 3: 151,144,887 (GRCm39) T12N probably benign Het
Alpi T C 1: 87,026,677 (GRCm39) N438S probably benign Het
Ankrd44 T C 1: 54,687,483 (GRCm39) N979D probably benign Het
Ankrd60 A C 2: 173,419,966 (GRCm39) S57A probably benign Het
Arfgef3 G A 10: 18,522,377 (GRCm39) P550S probably benign Het
Btbd16 A T 7: 130,422,202 (GRCm39) D390V probably damaging Het
Cacna2d4 T C 6: 119,248,208 (GRCm39) V374A probably benign Het
Cdcp1 A T 9: 123,014,172 (GRCm39) F201I probably benign Het
Cdh15 A T 8: 123,588,865 (GRCm39) D313V probably damaging Het
Cfap157 A G 2: 32,669,890 (GRCm39) L231P possibly damaging Het
Chl1 T G 6: 103,688,162 (GRCm39) C1001G probably damaging Het
Cmtr2 A G 8: 110,948,770 (GRCm39) H360R probably damaging Het
Csmd1 C T 8: 16,261,732 (GRCm39) A922T probably damaging Het
Fancg C T 4: 43,010,116 (GRCm39) probably benign Het
Glt8d2 A T 10: 82,488,403 (GRCm39) S356T unknown Het
Gm19410 T A 8: 36,269,386 (GRCm39) C1074S probably damaging Het
Gm9195 C T 14: 72,711,310 (GRCm39) C376Y possibly damaging Het
Gnai3 G A 3: 108,025,693 (GRCm39) R129C Het
Golph3 T G 15: 12,343,404 (GRCm39) probably null Het
H2bc18 T A 3: 96,177,186 (GRCm39) V40D possibly damaging Het
Hk1 C A 10: 62,140,561 (GRCm39) V105F probably damaging Het
Hoxd8 A G 2: 74,536,001 (GRCm39) Y37C probably damaging Het
Inava T A 1: 136,142,122 (GRCm39) D659V possibly damaging Het
Jun G T 4: 94,939,234 (GRCm39) P92Q probably damaging Het
Klhl14 C T 18: 21,784,597 (GRCm39) V277I probably damaging Het
Lrrc51 C T 7: 101,569,843 (GRCm39) probably null Het
Man2c1 T A 9: 57,045,100 (GRCm39) Y429* probably null Het
Myo18a T A 11: 77,734,406 (GRCm39) C1476S probably benign Het
Neb G C 2: 52,066,635 (GRCm39) T6155R probably damaging Het
Niban3 C G 8: 72,059,342 (GRCm39) C568W probably damaging Het
Nuf2 T C 1: 169,326,422 (GRCm39) E443G possibly damaging Het
Or10j5 C T 1: 172,784,511 (GRCm39) H50Y probably benign Het
Or4c15 A G 2: 88,760,434 (GRCm39) V75A probably benign Het
Or5d37 A T 2: 87,923,954 (GRCm39) C109S probably damaging Het
Or7g32 A G 9: 19,408,685 (GRCm39) I214V probably damaging Het
Osmr A G 15: 6,856,603 (GRCm39) S515P probably damaging Het
Pik3r5 T C 11: 68,367,177 (GRCm39) L84P probably damaging Het
Plcl1 T C 1: 55,736,273 (GRCm39) I538T probably damaging Het
Plxnb1 G T 9: 108,929,929 (GRCm39) V262L probably damaging Het
Pprc1 T C 19: 46,057,804 (GRCm39) S1320P unknown Het
Pramel47 A G 5: 95,490,409 (GRCm39) D347G probably benign Het
Prap1 G A 7: 139,676,120 (GRCm39) probably null Het
Psg23 A T 7: 18,348,699 (GRCm39) V36D probably damaging Het
Ptgr1 A G 4: 58,982,887 (GRCm39) Y49H probably damaging Het
Ptprr A G 10: 116,087,104 (GRCm39) T528A probably benign Het
Rapgef6 T C 11: 54,525,787 (GRCm39) S541P unknown Het
Rnf17 A T 14: 56,753,895 (GRCm39) D1534V probably damaging Het
Sdk1 T G 5: 141,778,731 (GRCm39) S236R possibly damaging Het
Sepsecs A G 5: 52,801,393 (GRCm39) M423T possibly damaging Het
Serpina1f T G 12: 103,658,167 (GRCm39) Y246S probably benign Het
Sftpb T A 6: 72,282,048 (GRCm39) V46E possibly damaging Het
Slc4a1ap G A 5: 31,691,475 (GRCm39) V424I probably benign Het
Slc5a4b G A 10: 75,946,742 (GRCm39) T10M probably benign Het
Slc6a16 T C 7: 44,922,063 (GRCm39) W664R probably damaging Het
Snx8 T C 5: 140,341,827 (GRCm39) E138G probably benign Het
Sox6 T C 7: 115,376,408 (GRCm39) E108G probably benign Het
Sptan1 A T 2: 29,870,209 (GRCm39) I120F probably damaging Het
Sptbn4 T C 7: 27,075,015 (GRCm39) E1452G possibly damaging Het
Stac2 T A 11: 97,930,452 (GRCm39) E372V probably damaging Het
Taco1 A T 11: 105,962,795 (GRCm39) I161F probably damaging Het
Taf1d C A 9: 15,220,133 (GRCm39) D127E possibly damaging Het
Tenm2 T A 11: 36,097,803 (GRCm39) N482Y probably damaging Het
Tenm3 A G 8: 48,729,635 (GRCm39) V1457A possibly damaging Het
Tmem200c A T 17: 69,148,671 (GRCm39) H418L probably benign Het
Tmem81 T C 1: 132,435,884 (GRCm39) V230A probably benign Het
Tnn C T 1: 159,946,074 (GRCm39) V915I possibly damaging Het
Trav8d-2 A T 14: 53,280,154 (GRCm39) Y48F possibly damaging Het
Trpm2 T C 10: 77,801,894 (GRCm39) N57S probably benign Het
Ttn G A 2: 76,598,383 (GRCm39) T19510M probably damaging Het
Ubl7 T C 9: 57,820,167 (GRCm39) L73P unknown Het
Uso1 A G 5: 92,347,734 (GRCm39) D845G possibly damaging Het
Utrn G T 10: 12,277,126 (GRCm39) P3397Q possibly damaging Het
Vmn2r60 AG A 7: 41,845,158 (GRCm39) probably null 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
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
R7839:Adcyap1 UTSW 17 93,511,413 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TAAGTTACTCCCAGGTCCCGTG -3'
(R):5'- CCCAAGGCTTGTAGTATCCACC -3'

Sequencing Primer
(F):5'- AGGTCCCGTGTCACTAGTG -3'
(R):5'- AAGGCTTGTAGTATCCACCTCCTTG -3'
Posted On 2019-10-17