Incidental Mutation 'R5341:Adcyap1r1'
ID 422328
Institutional Source Beutler Lab
Gene Symbol Adcyap1r1
Ensembl Gene ENSMUSG00000029778
Gene Name adenylate cyclase activating polypeptide 1 receptor 1
Synonyms 2900024I10Rik, PAC1, PAC1R, PACAP1-R
MMRRC Submission 042920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R5341 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 55428963-55478436 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 55455054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 111 (F111L)
Ref Sequence ENSEMBL: ENSMUSP00000130742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070736] [ENSMUST00000070756] [ENSMUST00000165786] [ENSMUST00000165857] [ENSMUST00000166962] [ENSMUST00000167234] [ENSMUST00000172084]
AlphaFold P70205
Predicted Effect probably benign
Transcript: ENSMUST00000070736
SMART Domains Protein: ENSMUSP00000063784
Gene: ENSMUSG00000029778

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
HormR 50 143 7.2e-29 SMART
Pfam:7tm_2 150 424 3.6e-92 PFAM
low complexity region 474 489 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070756
SMART Domains Protein: ENSMUSP00000066902
Gene: ENSMUSG00000029778

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
HormR 50 143 7.2e-29 SMART
Pfam:7tm_2 150 396 2.6e-93 PFAM
low complexity region 446 461 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165786
SMART Domains Protein: ENSMUSP00000130923
Gene: ENSMUSG00000029778

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
HormR 50 143 7.2e-29 SMART
Pfam:7tm_2 150 423 2.6e-92 PFAM
low complexity region 473 488 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165857
SMART Domains Protein: ENSMUSP00000129614
Gene: ENSMUSG00000029778

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
HormR 50 143 7.2e-29 SMART
Pfam:7tm_2 150 424 1.4e-94 PFAM
low complexity region 474 489 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166962
AA Change: F111L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000130742
Gene: ENSMUSG00000029778
AA Change: F111L

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
Pfam:HRM 51 131 2.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167234
SMART Domains Protein: ENSMUSP00000126994
Gene: ENSMUSG00000029778

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
HormR 50 143 7.2e-29 SMART
Pfam:7tm_2 150 452 1.4e-91 PFAM
low complexity region 502 517 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172084
SMART Domains Protein: ENSMUSP00000127319
Gene: ENSMUSG00000029778

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
HormR 50 122 2.15e-27 SMART
Pfam:7tm_2 129 375 9e-94 PFAM
low complexity region 425 440 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 97% (64/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygotes for targeted mutations affect contextual fear conditioning, elevated locomotor activity, anxiety-like behavior, susceptibility to endotoxic shock, circadian responses to a photic stimulus, and glucose tolerance. Some alleles affect female fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 A G 10: 85,223,236 (GRCm39) D15G unknown Het
Actr5 C A 2: 158,467,144 (GRCm39) S28* probably null Het
Adcy1 A C 11: 7,080,375 (GRCm39) M373L probably damaging Het
Arid5b A T 10: 68,113,957 (GRCm39) F27I possibly damaging Het
Art5 C A 7: 101,747,306 (GRCm39) V158L probably benign Het
Bora T A 14: 99,305,530 (GRCm39) Y300N probably damaging Het
Cd300a A G 11: 114,784,288 (GRCm39) T99A probably damaging Het
Cdon A G 9: 35,381,431 (GRCm39) Y607C probably damaging Het
Cenatac A G 9: 44,328,406 (GRCm39) probably null Het
Cpxm2 T A 7: 131,756,342 (GRCm39) probably benign Het
Cstdc7 A G 18: 42,306,496 (GRCm39) D21G possibly damaging Het
Dhx8 AGACCGGGACCGGGACCGGGACCGGGAC AGACCGGGACCGGGACCGGGAC 11: 101,629,016 (GRCm39) probably benign Het
Dync2i1 T C 12: 116,219,534 (GRCm39) E136G possibly damaging Het
Enox1 A C 14: 77,815,096 (GRCm39) T85P possibly damaging Het
Fanci T C 7: 79,055,926 (GRCm39) L158P probably damaging Het
Gbgt1 C A 2: 28,395,019 (GRCm39) T219N probably damaging Het
Gulo T C 14: 66,225,707 (GRCm39) D373G probably benign Het
Hivep2 C A 10: 14,008,336 (GRCm39) Q1645K possibly damaging Het
Iqce A C 5: 140,675,814 (GRCm39) M114R possibly damaging Het
Lmbrd1 A T 1: 24,785,892 (GRCm39) K396* probably null Het
Lrrk2 A T 15: 91,657,061 (GRCm39) D1785V probably damaging Het
Matcap1 A T 8: 106,011,687 (GRCm39) M226K probably damaging Het
Mcmdc2 ATAAAAAAAAAGGAAAAATTACCTT AT 1: 10,011,142 (GRCm39) probably null Het
Mepce A G 5: 137,781,522 (GRCm39) V564A probably damaging Het
Mmp17 A T 5: 129,679,193 (GRCm39) D364V possibly damaging Het
Mrgpre T C 7: 143,335,246 (GRCm39) N86D probably benign Het
Ms4a20 T C 19: 11,087,745 (GRCm39) probably benign Het
Or2r11 A T 6: 42,437,098 (GRCm39) L285Q probably damaging Het
Or4f53 T A 2: 111,087,982 (GRCm39) I174K probably damaging Het
Pate11 A T 9: 36,388,357 (GRCm39) K61* probably null Het
Pax5 T C 4: 44,697,630 (GRCm39) D35G probably damaging Het
Pip5k1b T A 19: 24,281,440 (GRCm39) T473S probably benign Het
Pkd2l2 A G 18: 34,542,987 (GRCm39) probably null Het
Pygo2 C A 3: 89,340,067 (GRCm39) P155Q probably damaging Het
Rb1cc1 G T 1: 6,285,266 (GRCm39) probably benign Het
Rbpj A G 5: 53,799,425 (GRCm39) E80G possibly damaging Het
Sbno1 A C 5: 124,546,538 (GRCm39) probably null Het
Slc1a1 T A 19: 28,874,968 (GRCm39) V182E probably benign Het
Slc34a3 A T 2: 25,120,671 (GRCm39) F419I probably benign Het
Snx8 A G 5: 140,343,886 (GRCm39) V62A probably damaging Het
Sp9 T C 2: 73,104,858 (GRCm39) S471P possibly damaging Het
Sspo A T 6: 48,436,549 (GRCm39) S1270C probably damaging Het
Stk11 A T 10: 79,962,094 (GRCm39) T83S probably benign Het
Syt13 A G 2: 92,783,897 (GRCm39) E389G probably benign Het
Taf10 T C 7: 105,390,139 (GRCm39) probably benign Het
Tgm1 A T 14: 55,937,705 (GRCm39) S801R possibly damaging Het
Thoc2l A T 5: 104,665,942 (GRCm39) T155S probably damaging Het
Timeless T C 10: 128,083,047 (GRCm39) F628L possibly damaging Het
Tmem171 G T 13: 98,824,956 (GRCm39) P225T probably damaging Het
Tspan12 A T 6: 21,835,458 (GRCm39) C72S possibly damaging Het
Txk T C 5: 72,853,964 (GRCm39) T458A probably benign Het
Txndc9 A G 1: 38,026,704 (GRCm39) probably benign Het
Uap1 C A 1: 169,971,000 (GRCm39) C464F probably damaging Het
Ugt2b36 A T 5: 87,240,087 (GRCm39) Y99* probably null Het
Usp35 T C 7: 96,975,134 (GRCm39) Y13C probably damaging Het
Vmn1r6 T G 6: 56,979,789 (GRCm39) N128K probably damaging Het
Vmn2r106 T A 17: 20,497,788 (GRCm39) I484L probably benign Het
Zdbf2 T A 1: 63,347,092 (GRCm39) S1824T probably benign Het
Zdhhc4 A G 5: 143,311,915 (GRCm39) V19A probably benign Het
Zfp955b C T 17: 33,524,095 (GRCm39) probably benign Het
Zfp97 T A 17: 17,365,472 (GRCm39) C324S probably damaging Het
Zswim8 G A 14: 20,766,122 (GRCm39) D803N probably damaging Het
Other mutations in Adcyap1r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Adcyap1r1 APN 6 55,449,264 (GRCm39) missense probably damaging 1.00
IGL00837:Adcyap1r1 APN 6 55,438,605 (GRCm39) splice site probably benign
IGL02686:Adcyap1r1 APN 6 55,458,110 (GRCm39) missense probably benign 0.37
IGL03229:Adcyap1r1 APN 6 55,455,108 (GRCm39) missense probably damaging 1.00
PIT4458001:Adcyap1r1 UTSW 6 55,455,067 (GRCm39) missense probably benign 0.00
R0360:Adcyap1r1 UTSW 6 55,452,508 (GRCm39) intron probably benign
R0517:Adcyap1r1 UTSW 6 55,468,282 (GRCm39) missense probably damaging 0.99
R1169:Adcyap1r1 UTSW 6 55,471,101 (GRCm39) missense probably damaging 1.00
R1897:Adcyap1r1 UTSW 6 55,456,179 (GRCm39) missense probably damaging 1.00
R2113:Adcyap1r1 UTSW 6 55,458,100 (GRCm39) missense probably damaging 0.99
R4462:Adcyap1r1 UTSW 6 55,457,084 (GRCm39) missense possibly damaging 0.90
R4871:Adcyap1r1 UTSW 6 55,457,078 (GRCm39) missense probably null 0.34
R5146:Adcyap1r1 UTSW 6 55,461,957 (GRCm39) missense probably benign 0.00
R6426:Adcyap1r1 UTSW 6 55,471,172 (GRCm39) missense probably damaging 1.00
R6599:Adcyap1r1 UTSW 6 55,456,979 (GRCm39) missense probably damaging 1.00
R6928:Adcyap1r1 UTSW 6 55,456,257 (GRCm39) missense possibly damaging 0.92
R7059:Adcyap1r1 UTSW 6 55,468,295 (GRCm39) missense probably damaging 0.98
R8383:Adcyap1r1 UTSW 6 55,456,985 (GRCm39) missense probably damaging 1.00
R8784:Adcyap1r1 UTSW 6 55,458,100 (GRCm39) missense probably damaging 0.99
R8882:Adcyap1r1 UTSW 6 55,468,219 (GRCm39) missense possibly damaging 0.81
R8919:Adcyap1r1 UTSW 6 55,474,080 (GRCm39) missense probably damaging 0.96
R9026:Adcyap1r1 UTSW 6 55,458,107 (GRCm39) missense probably benign 0.07
R9625:Adcyap1r1 UTSW 6 55,457,055 (GRCm39) missense probably damaging 0.98
R9699:Adcyap1r1 UTSW 6 55,474,140 (GRCm39) missense probably damaging 0.96
R9786:Adcyap1r1 UTSW 6 55,456,182 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGATCAGGTCGCTCATTCAC -3'
(R):5'- AGGCTCAGTATACAGCAGGCAG -3'

Sequencing Primer
(F):5'- GATCAGGTCGCTCATTCACCTACTC -3'
(R):5'- TATACAGCAGGCAGGCACTCATG -3'
Posted On 2016-08-04