Incidental Mutation 'IGL00497:Adcyap1r1'
ID |
5446 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adcyap1r1
|
Ensembl Gene |
ENSMUSG00000029778 |
Gene Name |
adenylate cyclase activating polypeptide 1 receptor 1 |
Synonyms |
2900024I10Rik, PAC1, PAC1R, PACAP1-R |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.233)
|
Stock # |
IGL00497
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
55428963-55478436 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 55449264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 73
(V73I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130742
(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: V73I
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000063784 Gene: ENSMUSG00000029778 AA Change: V73I
Domain | Start | End | E-Value | Type |
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: V73I
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000066902 Gene: ENSMUSG00000029778 AA Change: V73I
Domain | Start | End | E-Value | Type |
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: V73I
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000130923 Gene: ENSMUSG00000029778 AA Change: V73I
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000165857
AA Change: V73I
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000129614 Gene: ENSMUSG00000029778 AA Change: V73I
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000166962
AA Change: V73I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000130742 Gene: ENSMUSG00000029778 AA Change: V73I
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
Pfam:HRM
|
51 |
131 |
2.3e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167234
AA Change: V73I
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000126994 Gene: ENSMUSG00000029778 AA Change: V73I
Domain | Start | End | E-Value | Type |
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: V73I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000127319 Gene: ENSMUSG00000029778 AA Change: V73I
Domain | Start | End | E-Value | Type |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579G24Rik |
G |
A |
3: 79,538,598 (GRCm39) |
|
probably benign |
Het |
Aatk |
C |
T |
11: 119,901,012 (GRCm39) |
R1128Q |
probably benign |
Het |
Acot6 |
C |
T |
12: 84,156,212 (GRCm39) |
R387C |
probably damaging |
Het |
Adam11 |
A |
G |
11: 102,660,973 (GRCm39) |
E118G |
probably damaging |
Het |
Apol8 |
T |
C |
15: 77,634,214 (GRCm39) |
T121A |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,163,759 (GRCm39) |
N1076D |
probably damaging |
Het |
Ccdc91 |
C |
A |
6: 147,508,485 (GRCm39) |
Q404K |
unknown |
Het |
Cpt1b |
T |
C |
15: 89,306,496 (GRCm39) |
K294R |
probably benign |
Het |
Dnah6 |
A |
C |
6: 73,172,744 (GRCm39) |
V238G |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,663,536 (GRCm39) |
S1920P |
probably damaging |
Het |
Gcfc2 |
A |
T |
6: 81,934,951 (GRCm39) |
I737L |
probably benign |
Het |
Gmeb1 |
A |
G |
4: 131,955,296 (GRCm39) |
V293A |
probably benign |
Het |
Gpi-ps |
T |
C |
8: 5,690,563 (GRCm39) |
|
noncoding transcript |
Het |
Hibch |
A |
G |
1: 52,924,349 (GRCm39) |
|
probably benign |
Het |
Ifnab |
A |
G |
4: 88,609,419 (GRCm39) |
Y16H |
probably benign |
Het |
Il17rc |
T |
C |
6: 113,451,132 (GRCm39) |
V155A |
probably damaging |
Het |
Lrr1 |
A |
G |
12: 69,221,356 (GRCm39) |
H166R |
probably benign |
Het |
Map4k5 |
G |
T |
12: 69,892,506 (GRCm39) |
A141E |
probably damaging |
Het |
Mettl17 |
A |
T |
14: 52,126,292 (GRCm39) |
K233N |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,862,204 (GRCm39) |
L740S |
probably damaging |
Het |
Mpdz |
A |
C |
4: 81,253,979 (GRCm39) |
I1051S |
probably benign |
Het |
Mroh8 |
A |
G |
2: 157,058,834 (GRCm39) |
F944S |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,233,314 (GRCm39) |
Y611C |
probably damaging |
Het |
Npat |
A |
G |
9: 53,478,100 (GRCm39) |
N951D |
possibly damaging |
Het |
Osmr |
T |
C |
15: 6,876,547 (GRCm39) |
S126G |
probably benign |
Het |
Parp14 |
T |
C |
16: 35,655,206 (GRCm39) |
Y1755C |
probably damaging |
Het |
Phf14 |
T |
C |
6: 11,941,423 (GRCm39) |
|
probably benign |
Het |
Prex2 |
T |
A |
1: 11,256,876 (GRCm39) |
M1196K |
possibly damaging |
Het |
Prkd1 |
A |
T |
12: 50,430,264 (GRCm39) |
D614E |
probably damaging |
Het |
Ptprm |
A |
G |
17: 67,124,967 (GRCm39) |
L794P |
probably damaging |
Het |
Rb1 |
C |
T |
14: 73,502,038 (GRCm39) |
R449H |
probably damaging |
Het |
Scfd1 |
A |
G |
12: 51,474,652 (GRCm39) |
D469G |
probably benign |
Het |
Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
Sgo1 |
A |
G |
17: 53,984,130 (GRCm39) |
|
probably benign |
Het |
Slc11a1 |
A |
G |
1: 74,421,057 (GRCm39) |
|
probably null |
Het |
Snw1 |
A |
G |
12: 87,499,350 (GRCm39) |
|
probably null |
Het |
Stac3 |
T |
C |
10: 127,339,533 (GRCm39) |
I143T |
probably damaging |
Het |
Tcta |
A |
T |
9: 108,183,115 (GRCm39) |
L10Q |
probably damaging |
Het |
Tha1 |
T |
C |
11: 117,761,831 (GRCm39) |
|
probably benign |
Het |
Trmt1 |
T |
C |
8: 85,422,138 (GRCm39) |
M254T |
possibly damaging |
Het |
Trps1 |
T |
A |
15: 50,524,703 (GRCm39) |
M887L |
possibly damaging |
Het |
Zfyve28 |
A |
G |
5: 34,400,539 (GRCm39) |
V53A |
probably damaging |
Het |
|
Other mutations in Adcyap1r1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2012-04-20 |