Incidental Mutation 'R1897:Adcyap1r1'
ID 212044
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 039917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R1897 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 55428963-55478436 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55456179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 168 (H168L)
Ref Sequence ENSEMBL: ENSMUSP00000127319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070736] [ENSMUST00000070756] [ENSMUST00000165786] [ENSMUST00000165857] [ENSMUST00000166962] [ENSMUST00000167234] [ENSMUST00000172084]
AlphaFold P70205
Predicted Effect probably damaging
Transcript: ENSMUST00000070736
AA Change: H189L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063784
Gene: ENSMUSG00000029778
AA Change: H189L

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 damaging
Transcript: ENSMUST00000070756
AA Change: H189L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066902
Gene: ENSMUSG00000029778
AA Change: H189L

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 damaging
Transcript: ENSMUST00000165786
AA Change: H189L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130923
Gene: ENSMUSG00000029778
AA Change: H189L

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 damaging
Transcript: ENSMUST00000165857
AA Change: H189L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129614
Gene: ENSMUSG00000029778
AA Change: H189L

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
SMART Domains Protein: ENSMUSP00000130742
Gene: ENSMUSG00000029778

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
Pfam:HRM 51 131 2.3e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167234
AA Change: H189L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126994
Gene: ENSMUSG00000029778
AA Change: H189L

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 damaging
Transcript: ENSMUST00000172084
AA Change: H168L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127319
Gene: ENSMUSG00000029778
AA Change: H168L

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 0.9658 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.8%
Validation Efficiency 99% (72/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 A G 1: 155,434,564 (GRCm39) S61G probably damaging Het
Acot12 A G 13: 91,932,516 (GRCm39) N504S probably benign Het
Adcy3 C T 12: 4,223,450 (GRCm39) probably benign Het
Adgrd1 A G 5: 129,206,065 (GRCm39) E213G probably benign Het
Aldh1l2 G T 10: 83,338,389 (GRCm39) T510K probably damaging Het
Apol7e A T 15: 77,602,094 (GRCm39) M231L probably benign Het
Asb1 C A 1: 91,474,647 (GRCm39) probably null Het
Atf7ip2 C T 16: 10,028,948 (GRCm39) P160L probably damaging Het
Atp8a1 A G 5: 67,895,772 (GRCm39) L554P probably damaging Het
Ccdc18 A T 5: 108,343,908 (GRCm39) M884L probably benign Het
Ccdc93 A G 1: 121,418,941 (GRCm39) I499V probably benign Het
Ccl20 A G 1: 83,095,616 (GRCm39) D60G probably damaging Het
Cdhr3 T C 12: 33,095,192 (GRCm39) T626A possibly damaging Het
Cep250 A G 2: 155,818,015 (GRCm39) E789G probably damaging Het
Cmpk2 T C 12: 26,524,046 (GRCm39) L281P probably damaging Het
Col6a6 A T 9: 105,662,943 (GRCm39) M198K possibly damaging Het
Crocc G A 4: 140,746,047 (GRCm39) R1691C probably damaging Het
Csf1 C T 3: 107,655,595 (GRCm39) V90M probably damaging Het
Cul2 T G 18: 3,414,164 (GRCm39) M86R probably benign Het
Dbndd2 T C 2: 164,330,584 (GRCm39) F79S probably damaging Het
Dkk1 G T 19: 30,526,678 (GRCm39) N34K possibly damaging Het
Dnah6 T A 6: 73,158,745 (GRCm39) L619F probably benign Het
Eif2b5 T C 16: 20,325,787 (GRCm39) V588A probably damaging Het
Elf3 A T 1: 135,184,875 (GRCm39) Y104N probably damaging Het
Fahd2a T C 2: 127,278,530 (GRCm39) D272G probably damaging Het
Fbxw15 A T 9: 109,387,271 (GRCm39) C188* probably null Het
Fbxw8 T C 5: 118,266,941 (GRCm39) Y174C probably benign Het
Gnl1 C A 17: 36,299,584 (GRCm39) P585Q possibly damaging Het
Greb1l T C 18: 10,498,992 (GRCm39) S292P probably benign Het
Gsk3b G A 16: 38,037,446 (GRCm39) probably null Het
Hcls1 C T 16: 36,783,005 (GRCm39) P452L probably damaging Het
Hdlbp A T 1: 93,350,007 (GRCm39) probably benign Het
Hecw1 A G 13: 14,552,525 (GRCm39) S25P probably damaging Het
Hells T C 19: 38,928,928 (GRCm39) V100A probably benign Het
Isl1 C T 13: 116,439,866 (GRCm39) E161K probably benign Het
Klra9 G T 6: 130,162,555 (GRCm39) N160K possibly damaging Het
Lama4 T C 10: 38,936,182 (GRCm39) V619A probably damaging Het
Mpc1 G A 17: 8,515,710 (GRCm39) R134Q possibly damaging Het
Myo5c A T 9: 75,199,523 (GRCm39) N1377I probably benign Het
Myrf T C 19: 10,195,596 (GRCm39) I607V probably benign Het
Or2g1 T G 17: 38,107,075 (GRCm39) S247A probably benign Het
Or8g53 A T 9: 39,683,361 (GRCm39) I245K probably damaging Het
Pik3c2b A G 1: 132,994,654 (GRCm39) D206G possibly damaging Het
Pipox A G 11: 77,773,568 (GRCm39) Y228H probably damaging Het
Pitrm1 T A 13: 6,610,131 (GRCm39) V401D possibly damaging Het
Plod1 C T 4: 148,010,657 (GRCm39) E265K probably damaging Het
Ptpn21 A T 12: 98,646,664 (GRCm39) probably null Het
Qars1 C T 9: 108,391,282 (GRCm39) Q7* probably null Het
Rpap2 T A 5: 107,780,961 (GRCm39) V479E possibly damaging Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Rusc2 A G 4: 43,421,749 (GRCm39) Y723C probably damaging Het
Ryr2 A T 13: 11,765,818 (GRCm39) M1306K probably benign Het
Sesn3 A C 9: 14,219,941 (GRCm39) Y110S probably damaging Het
Sgce C T 6: 4,691,511 (GRCm39) V319I probably benign Het
Slc15a5 G T 6: 138,056,762 (GRCm39) F51L possibly damaging Het
Slit2 T A 5: 48,395,765 (GRCm39) C723S probably damaging Het
Sncaip A G 18: 53,027,862 (GRCm39) probably null Het
Snx2 T A 18: 53,330,950 (GRCm39) D138E probably damaging Het
Spef2 A T 15: 9,729,740 (GRCm39) L126* probably null Het
Stam T C 2: 14,133,837 (GRCm39) S195P probably damaging Het
Strn T C 17: 78,990,271 (GRCm39) I82V probably benign Het
Synj2 T A 17: 6,072,412 (GRCm39) C202* probably null Het
Tecpr2 A G 12: 110,899,681 (GRCm39) D683G probably benign Het
Tfec A G 6: 16,835,307 (GRCm39) V157A probably damaging Het
Tff1 T G 17: 31,383,912 (GRCm39) Q28P probably benign Het
Vmn2r86 A G 10: 130,288,314 (GRCm39) Y396H probably damaging Het
Vmn2r87 A T 10: 130,307,829 (GRCm39) M803K probably damaging Het
Vmn2r90 A G 17: 17,953,566 (GRCm39) K577E probably damaging Het
Vrk1 T C 12: 106,002,799 (GRCm39) probably benign Het
Wdr20 A G 12: 110,760,157 (GRCm39) T348A probably benign 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
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
R5341:Adcyap1r1 UTSW 6 55,455,054 (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'- AAGTCTGGCCAGTGGATGAC -3'
(R):5'- ACTTAGGATAAGACCTTCACCTG -3'

Sequencing Primer
(F):5'- TGGATGACCAGGGTGGG -3'
(R):5'- TGCATAAACACATTCCCTGTAGG -3'
Posted On 2014-06-30