Incidental Mutation 'IGL00837:Adcyap1r1'
| ID |
8603 |
| 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 # |
IGL00837
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
55428963-55478436 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 55438605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070736]
[ENSMUST00000070756]
[ENSMUST00000165786]
[ENSMUST00000165857]
[ENSMUST00000166962]
[ENSMUST00000167234]
[ENSMUST00000167484]
[ENSMUST00000172084]
|
| AlphaFold |
P70205 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070736
|
| SMART Domains |
Protein: ENSMUSP00000063784
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 |
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 benign
Transcript: ENSMUST00000165786
|
| SMART Domains |
Protein: ENSMUSP00000130923
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 |
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 benign
Transcript: ENSMUST00000166962
|
| SMART Domains |
Protein: ENSMUSP00000130742
Gene: ENSMUSG00000029778
| 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
|
| SMART Domains |
Protein: ENSMUSP00000126994
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 |
452 |
1.4e-91 |
PFAM |
|
low complexity region
|
502 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167484
|
| 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 |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adig |
T |
A |
2: 158,344,709 (GRCm39) |
F16Y |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,211,880 (GRCm39) |
T210A |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,646,724 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
T |
A |
6: 48,885,598 (GRCm39) |
I701N |
possibly damaging |
Het |
| Armc1 |
A |
C |
3: 19,198,584 (GRCm39) |
N125K |
probably benign |
Het |
| Bcl2a1c |
A |
T |
9: 114,159,560 (GRCm39) |
T113S |
probably benign |
Het |
| Cdh10 |
A |
T |
15: 19,013,490 (GRCm39) |
I697L |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,829,137 (GRCm39) |
S256T |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,883,999 (GRCm39) |
N82S |
probably benign |
Het |
| Gart |
T |
C |
16: 91,435,608 (GRCm39) |
|
probably benign |
Het |
| Gtf3c6 |
A |
G |
10: 40,130,470 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,851,100 (GRCm39) |
|
probably benign |
Het |
| Mtmr6 |
T |
A |
14: 60,517,666 (GRCm39) |
Y92* |
probably null |
Het |
| Muc13 |
A |
T |
16: 33,628,329 (GRCm39) |
K360* |
probably null |
Het |
| Nfyc |
A |
G |
4: 120,638,744 (GRCm39) |
|
probably benign |
Het |
| Pole |
T |
A |
5: 110,449,875 (GRCm39) |
V774E |
possibly damaging |
Het |
| Rnf217 |
A |
G |
10: 31,379,770 (GRCm39) |
L484P |
probably damaging |
Het |
| Slc18a2 |
A |
T |
19: 59,272,816 (GRCm39) |
I373F |
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,750,887 (GRCm39) |
|
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,132,750 (GRCm39) |
I205V |
probably damaging |
Het |
| Tfap2d |
A |
T |
1: 19,189,430 (GRCm39) |
D270V |
probably damaging |
Het |
| Tmem63c |
G |
A |
12: 87,123,971 (GRCm39) |
S483N |
probably benign |
Het |
| Tor1aip1 |
T |
A |
1: 155,882,662 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
A |
C |
1: 37,840,992 (GRCm39) |
|
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,065,915 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
A |
T |
12: 75,679,825 (GRCm39) |
L143* |
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 |
|
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 |
2012-12-06 |
Incidental Mutation