Incidental Mutation 'IGL03229:Adcyap1r1'
ID413819
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adcyap1r1
Ensembl Gene ENSMUSG00000029778
Gene Nameadenylate cyclase activating polypeptide 1 receptor 1
SynonymsPAC1R, PAC1, PACAP1-R, 2900024I10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.192) question?
Stock #IGL03229
Quality Score
Status
Chromosome6
Chromosomal Location55451978-55501451 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55478123 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 124 (S124P)
Ref Sequence ENSEMBL: ENSMUSP00000126994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070736] [ENSMUST00000070756] [ENSMUST00000165786] [ENSMUST00000165857] [ENSMUST00000166962] [ENSMUST00000167234] [ENSMUST00000172084]
Predicted Effect probably damaging
Transcript: ENSMUST00000070736
AA Change: S124P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063784
Gene: ENSMUSG00000029778
AA Change: S124P

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: S124P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066902
Gene: ENSMUSG00000029778
AA Change: S124P

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: S124P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130923
Gene: ENSMUSG00000029778
AA Change: S124P

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: S124P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129614
Gene: ENSMUSG00000029778
AA Change: S124P

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 silent
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: S124P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126994
Gene: ENSMUSG00000029778
AA Change: S124P

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: S103P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127319
Gene: ENSMUSG00000029778
AA Change: S103P

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
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,940,936 I832T probably damaging Het
Coq4 A G 2: 29,788,485 D41G probably benign Het
Cpb1 A T 3: 20,249,837 Y354* probably null Het
Dip2b T C 15: 100,207,838 probably benign Het
Dmxl2 C T 9: 54,404,172 R1755H probably damaging Het
Dyrk4 G T 6: 126,886,642 probably benign Het
E2f7 T C 10: 110,754,346 V120A probably benign Het
Fsip2 A T 2: 82,978,076 I1580F possibly damaging Het
Gm7030 C T 17: 36,127,722 G259E probably damaging Het
Gm9755 C A 8: 67,514,672 noncoding transcript Het
Gprc6a T G 10: 51,616,603 N480T probably damaging Het
Hdlbp T C 1: 93,430,187 I331V probably benign Het
Heatr6 G T 11: 83,781,445 G1093V probably benign Het
Hist2h2ac C T 3: 96,220,637 A70T probably damaging Het
Kri1 T C 9: 21,282,070 E162G probably damaging Het
Nckipsd T C 9: 108,811,614 V116A probably benign Het
Nek10 A G 14: 14,986,686 H997R probably benign Het
Nov A G 15: 54,749,308 T238A probably benign Het
Nxph1 A G 6: 9,247,830 Y267C probably damaging Het
Olfr1090 A T 2: 86,754,016 C241S probably damaging Het
Olfr294 T C 7: 86,616,078 D189G probably benign Het
Ppip5k2 A T 1: 97,728,961 V829E probably damaging Het
Prkcz A C 4: 155,262,506 S573A probably benign Het
Prl2c1 T A 13: 27,856,629 probably benign Het
Rgs22 T A 15: 36,015,779 probably benign Het
Scn1a T A 2: 66,299,713 I1253F probably damaging Het
Tarm1 A G 7: 3,496,897 C146R probably damaging Het
Tor2a A T 2: 32,759,692 I189F probably damaging Het
Trappc9 A T 15: 73,058,456 L17Q probably damaging Het
Trim45 T A 3: 100,923,069 L53Q probably damaging Het
Ubr7 T C 12: 102,769,155 L291P probably damaging Het
Unc79 T C 12: 103,134,539 V1878A probably damaging Het
Wdr90 T C 17: 25,845,463 probably benign Het
Xpnpep1 T C 19: 53,025,380 H42R probably benign Het
Zfp750 G A 11: 121,512,952 H366Y possibly damaging Het
Zmynd11 A G 13: 9,689,565 C462R probably damaging Het
Other mutations in Adcyap1r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Adcyap1r1 APN 6 55472279 missense probably damaging 1.00
IGL00837:Adcyap1r1 APN 6 55461620 splice site probably benign
IGL02686:Adcyap1r1 APN 6 55481125 missense probably benign 0.37
PIT4458001:Adcyap1r1 UTSW 6 55478082 missense probably benign 0.00
R0360:Adcyap1r1 UTSW 6 55475523 intron probably benign
R0517:Adcyap1r1 UTSW 6 55491297 missense probably damaging 0.99
R1169:Adcyap1r1 UTSW 6 55494116 missense probably damaging 1.00
R1897:Adcyap1r1 UTSW 6 55479194 missense probably damaging 1.00
R2113:Adcyap1r1 UTSW 6 55481115 missense probably damaging 0.99
R4462:Adcyap1r1 UTSW 6 55480099 missense possibly damaging 0.90
R4871:Adcyap1r1 UTSW 6 55480093 missense probably null 0.34
R5146:Adcyap1r1 UTSW 6 55484972 missense probably benign 0.00
R5341:Adcyap1r1 UTSW 6 55478069 missense probably benign 0.00
R6426:Adcyap1r1 UTSW 6 55494187 missense probably damaging 1.00
R6599:Adcyap1r1 UTSW 6 55479994 missense probably damaging 1.00
R6928:Adcyap1r1 UTSW 6 55479272 missense possibly damaging 0.92
R7059:Adcyap1r1 UTSW 6 55491310 missense probably damaging 0.98
R8383:Adcyap1r1 UTSW 6 55480000 missense probably damaging 1.00
R8784:Adcyap1r1 UTSW 6 55481115 missense probably damaging 0.99
R8882:Adcyap1r1 UTSW 6 55491234 missense possibly damaging 0.81
R8919:Adcyap1r1 UTSW 6 55497095 missense probably damaging 0.96
Posted On2016-08-02