Incidental Mutation 'R7059:Adcyap1r1'
ID |
548119 |
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 |
045156-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.233)
|
Stock # |
R7059 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
55428963-55478436 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55468295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 405
(L405Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126994
(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: L377Q
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000063784 Gene: ENSMUSG00000029778 AA Change: L377Q
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
|
SMART Domains |
Protein: ENSMUSP00000066902 Gene: ENSMUSG00000029778
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 damaging
Transcript: ENSMUST00000165786
AA Change: L376Q
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130923 Gene: ENSMUSG00000029778 AA Change: L376Q
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 |
probably benign
Transcript: ENSMUST00000165857
|
SMART Domains |
Protein: ENSMUSP00000129614 Gene: ENSMUSG00000029778
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: ENSMUST00000167234
AA Change: L405Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126994 Gene: ENSMUSG00000029778 AA Change: L405Q
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
|
SMART Domains |
Protein: ENSMUSP00000127319 Gene: ENSMUSG00000029778
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 |
|
Meta Mutation Damage Score |
0.3939 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (54/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
T |
C |
2: 32,464,509 (GRCm39) |
|
probably benign |
Het |
Abca16 |
A |
G |
7: 120,020,971 (GRCm39) |
T5A |
probably benign |
Het |
Abraxas1 |
T |
C |
5: 100,954,103 (GRCm39) |
D349G |
probably benign |
Het |
Aqp5 |
A |
T |
15: 99,492,127 (GRCm39) |
T125S |
probably benign |
Het |
Asah1 |
A |
T |
8: 41,800,106 (GRCm39) |
N169K |
probably damaging |
Het |
Atl3 |
A |
G |
19: 7,511,333 (GRCm39) |
N515D |
probably benign |
Het |
Atl3 |
A |
C |
19: 7,511,334 (GRCm39) |
N520T |
probably benign |
Het |
Atp6v1c2 |
C |
A |
12: 17,339,005 (GRCm39) |
E249* |
probably null |
Het |
Bcl2a1b |
T |
A |
9: 89,081,813 (GRCm39) |
I134K |
probably damaging |
Het |
Brd10 |
T |
A |
19: 29,696,945 (GRCm39) |
E849D |
probably benign |
Het |
Btbd10 |
C |
T |
7: 112,929,129 (GRCm39) |
R159H |
probably damaging |
Het |
Chmp6 |
T |
C |
11: 119,806,866 (GRCm39) |
F7L |
probably damaging |
Het |
Colq |
C |
A |
14: 31,247,991 (GRCm39) |
C409F |
probably damaging |
Het |
Cpox |
T |
A |
16: 58,491,290 (GRCm39) |
V167E |
probably damaging |
Het |
Cul3 |
T |
C |
1: 80,254,141 (GRCm39) |
Y545C |
probably benign |
Het |
Dqx1 |
C |
T |
6: 83,041,790 (GRCm39) |
A544V |
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,801,305 (GRCm39) |
I73T |
probably benign |
Het |
Epha3 |
T |
A |
16: 63,388,818 (GRCm39) |
Y810F |
probably damaging |
Het |
Esp36 |
A |
T |
17: 38,727,942 (GRCm39) |
I113N |
unknown |
Het |
Fbxw17 |
T |
A |
13: 50,586,584 (GRCm39) |
W429R |
probably damaging |
Het |
Fcrl2 |
A |
T |
3: 87,164,647 (GRCm39) |
I293N |
possibly damaging |
Het |
Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
Gm8126 |
T |
A |
14: 43,118,975 (GRCm39) |
L148H |
probably benign |
Het |
Gpr39 |
C |
A |
1: 125,605,696 (GRCm39) |
S208Y |
probably damaging |
Het |
Heatr5a |
T |
C |
12: 51,935,017 (GRCm39) |
E1662G |
probably damaging |
Het |
Hgfac |
T |
A |
5: 35,201,773 (GRCm39) |
L302Q |
possibly damaging |
Het |
Itih1 |
G |
A |
14: 30,653,266 (GRCm39) |
H721Y |
possibly damaging |
Het |
Kat8 |
A |
G |
7: 127,524,075 (GRCm39) |
I372V |
probably benign |
Het |
Kcnk1 |
T |
A |
8: 126,756,466 (GRCm39) |
Y329* |
probably null |
Het |
Kcns2 |
A |
T |
15: 34,838,981 (GRCm39) |
I115F |
probably damaging |
Het |
Kif1a |
C |
T |
1: 92,974,551 (GRCm39) |
|
probably benign |
Het |
Lcn2 |
T |
A |
2: 32,277,608 (GRCm39) |
D127V |
possibly damaging |
Het |
Lrfn1 |
T |
C |
7: 28,166,355 (GRCm39) |
V583A |
possibly damaging |
Het |
Map3k1 |
T |
C |
13: 111,909,312 (GRCm39) |
I55V |
probably benign |
Het |
Mapk9 |
T |
C |
11: 49,757,874 (GRCm39) |
|
probably null |
Het |
Mrpl18 |
A |
G |
17: 13,132,668 (GRCm39) |
S154P |
possibly damaging |
Het |
Mst1 |
C |
A |
9: 107,961,263 (GRCm39) |
H524Q |
probably benign |
Het |
Mtpap |
T |
C |
18: 4,396,202 (GRCm39) |
L498P |
probably damaging |
Het |
Myl3 |
C |
T |
9: 110,571,105 (GRCm39) |
|
probably benign |
Het |
Myrfl |
T |
C |
10: 116,685,111 (GRCm39) |
T90A |
probably benign |
Het |
Mzf1 |
G |
T |
7: 12,786,985 (GRCm39) |
S28R |
probably damaging |
Het |
Olfm1 |
T |
C |
2: 28,112,628 (GRCm39) |
S205P |
probably damaging |
Het |
Or52e8 |
A |
T |
7: 104,625,224 (GRCm39) |
|
probably null |
Het |
Prrc2a |
G |
A |
17: 35,376,364 (GRCm39) |
P809S |
probably damaging |
Het |
Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
Rbm48 |
A |
T |
5: 3,640,625 (GRCm39) |
C251* |
probably null |
Het |
Rxfp1 |
A |
T |
3: 79,559,576 (GRCm39) |
V415E |
probably damaging |
Het |
Slc12a6 |
T |
A |
2: 112,183,257 (GRCm39) |
L748Q |
probably damaging |
Het |
Slc19a3 |
T |
A |
1: 83,000,090 (GRCm39) |
Y309F |
probably damaging |
Het |
Slc36a1 |
A |
G |
11: 55,114,498 (GRCm39) |
D192G |
probably damaging |
Het |
Slc38a4 |
G |
T |
15: 96,906,895 (GRCm39) |
S281* |
probably null |
Het |
Syne1 |
A |
T |
10: 5,296,859 (GRCm39) |
S1201T |
probably damaging |
Het |
Tex15 |
C |
A |
8: 34,064,758 (GRCm39) |
T1396K |
possibly damaging |
Het |
Zswim8 |
G |
T |
14: 20,764,641 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Adcyap1r1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- TGACGTCCTTAGCTTGTCAC -3'
(R):5'- CTGCAAGGAACTCACAAGGC -3'
Sequencing Primer
(F):5'- CCCCATGCCCTGTGAATTGAG -3'
(R):5'- GCAAGGAACTCACAAGGCACATATC -3'
|
Posted On |
2019-05-13 |