Incidental Mutation 'R6928:Adcyap1r1'
ID 539834
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 045045-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R6928 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 55428963-55478436 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55456257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 215 (D215G)
Ref Sequence ENSEMBL: ENSMUSP00000126994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070736] [ENSMUST00000070756] [ENSMUST00000165786] [ENSMUST00000165857] [ENSMUST00000166962] [ENSMUST00000167234] [ENSMUST00000172084]
AlphaFold P70205
Predicted Effect possibly damaging
Transcript: ENSMUST00000070736
AA Change: D215G

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063784
Gene: ENSMUSG00000029778
AA Change: D215G

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
AA Change: D215G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000066902
Gene: ENSMUSG00000029778
AA Change: D215G

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
AA Change: D215G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130923
Gene: ENSMUSG00000029778
AA Change: D215G

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
AA Change: D215G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129614
Gene: ENSMUSG00000029778
AA Change: D215G

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 possibly damaging
Transcript: ENSMUST00000167234
AA Change: D215G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126994
Gene: ENSMUSG00000029778
AA Change: D215G

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
AA Change: D194G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000127319
Gene: ENSMUSG00000029778
AA Change: D194G

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 0.1339 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.5%
Validation Efficiency 98% (62/63)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb3 A T 11: 30,948,326 (GRCm39) M40L probably damaging Het
Aspg G A 12: 112,093,123 (GRCm39) V547M possibly damaging Het
Aspm T A 1: 139,407,944 (GRCm39) L2277* probably null Het
Atp7b A G 8: 22,484,828 (GRCm39) S1295P probably benign Het
Cdca2 A G 14: 67,943,193 (GRCm39) S199P probably damaging Het
Cdh1 A G 8: 107,387,642 (GRCm39) E514G possibly damaging Het
Cenpk G T 13: 104,365,500 (GRCm39) probably benign Het
Col6a5 C A 9: 105,817,118 (GRCm39) V398L unknown Het
Colec10 A T 15: 54,326,002 (GRCm39) K277N probably damaging Het
Cryzl2 T G 1: 157,298,357 (GRCm39) S249A probably benign Het
Cspg4 T A 9: 56,805,164 (GRCm39) Y1992N possibly damaging Het
Drd3 G T 16: 43,641,683 (GRCm39) R333L probably benign Het
Espl1 C T 15: 102,207,342 (GRCm39) R269C probably benign Het
Esr2 C T 12: 76,212,252 (GRCm39) C188Y probably damaging Het
Focad A G 4: 88,267,112 (GRCm39) D1041G unknown Het
Frem3 T C 8: 81,337,911 (GRCm39) F68S possibly damaging Het
Gapdh A G 6: 125,139,634 (GRCm39) V212A probably damaging Het
Gzmb T C 14: 56,497,734 (GRCm39) K169E probably benign Het
Hexd T A 11: 121,102,880 (GRCm39) F33I possibly damaging Het
Hsd3b6 T C 3: 98,718,269 (GRCm39) I32V probably benign Het
Jcad T C 18: 4,673,372 (GRCm39) V378A probably benign Het
Kcnmb2 T C 3: 32,253,190 (GRCm39) S177P probably benign Het
Lrriq1 A T 10: 103,050,800 (GRCm39) S651T possibly damaging Het
Map3k2 T C 18: 32,340,593 (GRCm39) probably null Het
Mib1 T G 18: 10,802,282 (GRCm39) S870A probably benign Het
Moap1 T A 12: 102,708,871 (GRCm39) N226I probably damaging Het
Moxd1 T A 10: 24,176,186 (GRCm39) N547K probably damaging Het
Mtmr9 A G 14: 63,781,042 (GRCm39) V16A probably benign Het
Nme1 T C 11: 93,850,229 (GRCm39) Y151C probably damaging Het
Nwd1 T C 8: 73,408,653 (GRCm39) F879L probably benign Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or52ac1 A T 7: 104,245,796 (GRCm39) Y197* probably null Het
Or5ac25 C A 16: 59,181,826 (GRCm39) G252C probably damaging Het
Or5b102 A T 19: 13,041,348 (GRCm39) H191L probably benign Het
Or5b99 A G 19: 12,977,202 (GRCm39) N284S probably damaging Het
Or8d23 T C 9: 38,841,862 (GRCm39) Y132H probably damaging Het
Or8g21 T C 9: 38,905,928 (GRCm39) M268V probably benign Het
Pcdhb21 A G 18: 37,647,474 (GRCm39) E201G probably damaging Het
Plscr1 T C 9: 92,152,004 (GRCm39) V301A possibly damaging Het
Psg28 A T 7: 18,157,003 (GRCm39) S411T possibly damaging Het
Rif1 T C 2: 51,985,973 (GRCm39) W653R probably damaging Het
Rnd3 T A 2: 51,022,518 (GRCm39) I175L probably benign Het
Rtn4 A G 11: 29,656,791 (GRCm39) E199G possibly damaging Het
Sgpp1 T C 12: 75,763,344 (GRCm39) Y279C probably damaging Het
Slc2a13 A G 15: 91,160,382 (GRCm39) I524T probably damaging Het
Speer4a2 A G 5: 26,290,586 (GRCm39) probably null Het
Spg11 C T 2: 121,900,385 (GRCm39) V1556I probably benign Het
Spopfm1 T A 3: 94,173,855 (GRCm39) C288S probably benign Het
Srebf2 C T 15: 82,087,924 (GRCm39) R215* probably null Het
Tdpoz8 G A 3: 92,981,267 (GRCm39) C95Y probably damaging Het
Tmem19 T C 10: 115,183,179 (GRCm39) N147S possibly damaging Het
Tpr T C 1: 150,284,536 (GRCm39) S408P possibly damaging Het
Trav13d-4 C T 14: 53,310,618 (GRCm39) T53I probably damaging Het
Trf T A 9: 103,099,307 (GRCm39) R168W possibly damaging Het
Trim11 A G 11: 58,879,669 (GRCm39) K273R probably damaging Het
Tsacc T A 3: 88,190,247 (GRCm39) M68L probably benign Het
Ttn T A 2: 76,584,869 (GRCm39) M22110L probably benign Het
Zfp160 G T 17: 21,261,724 (GRCm39) G104V probably benign Het
Zfp582 T C 7: 6,357,266 (GRCm39) Y360H probably damaging Het
Zranb1 G A 7: 132,568,323 (GRCm39) R301H possibly 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
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
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'- AACCATGAGTAGGCCCAGAC -3'
(R):5'- GCCAAGGGACTAGCTTATCC -3'

Sequencing Primer
(F):5'- GACCAGCCCCACCCTGAG -3'
(R):5'- AGGGACTAGCTTATCCCTATCTGAG -3'
Posted On 2018-11-06