Incidental Mutation 'R8882:Adcyap1r1'
ID 676974
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 068750-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R8882 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 55428963-55478436 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55468219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 352 (V352M)
Ref Sequence ENSEMBL: ENSMUSP00000063784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070736] [ENSMUST00000070756] [ENSMUST00000165786] [ENSMUST00000165857] [ENSMUST00000167234] [ENSMUST00000172084]
AlphaFold P70205
Predicted Effect possibly damaging
Transcript: ENSMUST00000070736
AA Change: V352M

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000063784
Gene: ENSMUSG00000029778
AA Change: V352M

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 damaging
Transcript: ENSMUST00000165786
AA Change: V351M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130923
Gene: ENSMUSG00000029778
AA Change: V351M

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 possibly damaging
Transcript: ENSMUST00000167234
AA Change: V380M

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126994
Gene: ENSMUSG00000029778
AA Change: V380M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (55/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 A T 13: 111,392,033 (GRCm39) I123L probably benign Het
Adam18 T C 8: 25,136,438 (GRCm39) D361G probably benign Het
Ahnak T C 19: 8,978,106 (GRCm39) L75P probably damaging Het
Arhgap23 T C 11: 97,355,949 (GRCm39) S856P probably benign Het
Asprv1 G T 6: 86,605,349 (GRCm39) C65F probably benign Het
Atp2b4 A T 1: 133,654,193 (GRCm39) probably null Het
Cd55 A G 1: 130,387,501 (GRCm39) V99A probably benign Het
Cit G A 5: 116,001,089 (GRCm39) A163T probably benign Het
Dnah6 A T 6: 73,155,481 (GRCm39) D711E probably benign Het
Dnajc15 A T 14: 78,094,411 (GRCm39) V41E probably damaging Het
Dock2 GCACACACACA GCACACACACACA 11: 34,595,436 (GRCm39) 453 probably null Het
Dst T C 1: 34,240,005 (GRCm39) S1785P probably damaging Het
Efhb A G 17: 53,769,712 (GRCm39) V199A probably damaging Het
Esyt3 C T 9: 99,202,909 (GRCm39) G498D probably damaging Het
Fbxo11 A G 17: 88,304,957 (GRCm39) I562T Het
Fh1 C T 1: 175,437,353 (GRCm39) V249I possibly damaging Het
Gdpgp1 T C 7: 79,888,704 (GRCm39) I245T possibly damaging Het
Hinfp A G 9: 44,209,629 (GRCm39) probably null Het
Hip1r A G 5: 124,140,025 (GRCm39) K1043E probably damaging Het
Htt G A 5: 34,979,061 (GRCm39) V815I probably benign Het
Jrk A G 15: 74,579,004 (GRCm39) Y94H probably damaging Het
Krit1 T A 5: 3,886,864 (GRCm39) N704K possibly damaging Het
Mmp17 A G 5: 129,679,008 (GRCm39) D331G probably benign Het
Nlrp9a T A 7: 26,257,703 (GRCm39) Y440* probably null Het
Nphp3 A G 9: 103,882,793 (GRCm39) T216A possibly damaging Het
Or1e1f T G 11: 73,855,940 (GRCm39) C169G probably damaging Het
Or4a79 G T 2: 89,551,740 (GRCm39) C238* probably null Het
Or5ae2 T C 7: 84,505,681 (GRCm39) Y37H probably damaging Het
Or7e176 T C 9: 20,171,256 (GRCm39) F40S probably benign Het
Or8c15 T A 9: 38,120,461 (GRCm39) Y35* probably null Het
Parva T C 7: 112,027,211 (GRCm39) S14P probably benign Het
Pax6 A C 2: 105,521,963 (GRCm39) N207H possibly damaging Het
Pde6a A G 18: 61,378,619 (GRCm39) N314S Het
Phlpp1 T A 1: 106,320,372 (GRCm39) S1456T probably benign Het
Plxnc1 A G 10: 94,677,428 (GRCm39) V933A probably damaging Het
Rasgef1b A G 5: 99,524,860 (GRCm39) S100P probably benign Het
Rpn2 A G 2: 157,136,102 (GRCm39) H170R probably benign Het
Sbds A G 5: 130,282,778 (GRCm39) probably null Het
Scube2 G C 7: 109,451,680 (GRCm39) L158V probably damaging Het
Slc16a12 C A 19: 34,649,854 (GRCm39) V394L probably benign Het
Slc23a2 A T 2: 131,933,159 (GRCm39) Y100N possibly damaging Het
Slc30a9 G T 5: 67,473,044 (GRCm39) E43* probably null Het
Specc1l A T 10: 75,065,689 (GRCm39) M1L unknown Het
Sspo T A 6: 48,452,390 (GRCm39) C2785S probably damaging Het
Star T C 8: 26,302,897 (GRCm39) S280P probably benign Het
Strip1 A T 3: 107,534,341 (GRCm39) M127K probably benign Het
Tbx19 C T 1: 164,966,780 (GRCm39) V365M probably benign Het
Tex2 T C 11: 106,435,062 (GRCm39) D788G unknown Het
Tspyl1 A G 10: 34,158,494 (GRCm39) E73G possibly damaging Het
Ulk2 C T 11: 61,698,887 (GRCm39) probably null Het
Vmn2r120 A T 17: 57,852,229 (GRCm39) M29K probably benign Het
Vmn2r60 C A 7: 41,790,518 (GRCm39) Q502K probably benign Het
Xpo5 A G 17: 46,538,666 (GRCm39) D624G possibly damaging Het
Zfp119b T C 17: 56,246,923 (GRCm39) R88G possibly damaging Het
Zfp879 C A 11: 50,724,763 (GRCm39) E98* probably null 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
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
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'- TCCCTTGTCCAAAGCTGACTG -3'
(R):5'- CATGCAACAGCCAGGAATTG -3'

Sequencing Primer
(F):5'- AAAGCTGACTGTTTTATTCCTTGGC -3'
(R):5'- CCAGGAATTGGGTAGGCTG -3'
Posted On 2021-07-15