Incidental Mutation 'IGL03229:Adcyap1r1'
| ID |
413819 |
| 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 # |
IGL03229
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
55428963-55478436 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55455108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
P70205 |
| 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
| 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 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
| 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: S124P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130923
Gene: ENSMUSG00000029778
AA Change: S124P
| 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 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
| 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 |
silent
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 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
| 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 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
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,990,936 (GRCm39) |
I832T |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,612,704 (GRCm39) |
T238A |
probably benign |
Het |
| Coq4 |
A |
G |
2: 29,678,497 (GRCm39) |
D41G |
probably benign |
Het |
| Cpb1 |
A |
T |
3: 20,304,001 (GRCm39) |
Y354* |
probably null |
Het |
| Dip2b |
T |
C |
15: 100,105,719 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
C |
T |
9: 54,311,456 (GRCm39) |
R1755H |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,863,605 (GRCm39) |
|
probably benign |
Het |
| E2f7 |
T |
C |
10: 110,590,207 (GRCm39) |
V120A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,420 (GRCm39) |
I1580F |
possibly damaging |
Het |
| Gm9755 |
C |
A |
8: 67,967,324 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc6a |
T |
G |
10: 51,492,699 (GRCm39) |
N480T |
probably damaging |
Het |
| H2ac20 |
C |
T |
3: 96,127,953 (GRCm39) |
A70T |
probably damaging |
Het |
| H2-T9 |
C |
T |
17: 36,438,614 (GRCm39) |
G259E |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,357,909 (GRCm39) |
I331V |
probably benign |
Het |
| Heatr6 |
G |
T |
11: 83,672,271 (GRCm39) |
G1093V |
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,193,366 (GRCm39) |
E162G |
probably damaging |
Het |
| Nckipsd |
T |
C |
9: 108,688,813 (GRCm39) |
V116A |
probably benign |
Het |
| Nek10 |
A |
G |
14: 14,986,686 (GRCm38) |
H997R |
probably benign |
Het |
| Nxph1 |
A |
G |
6: 9,247,830 (GRCm39) |
Y267C |
probably damaging |
Het |
| Or14a256 |
T |
C |
7: 86,265,286 (GRCm39) |
D189G |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,360 (GRCm39) |
C241S |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,656,686 (GRCm39) |
V829E |
probably damaging |
Het |
| Prkcz |
A |
C |
4: 155,346,963 (GRCm39) |
S573A |
probably benign |
Het |
| Prl2c1 |
T |
A |
13: 28,040,612 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
A |
15: 36,015,925 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,130,057 (GRCm39) |
I1253F |
probably damaging |
Het |
| Tarm1 |
A |
G |
7: 3,545,413 (GRCm39) |
C146R |
probably damaging |
Het |
| Tor2a |
A |
T |
2: 32,649,704 (GRCm39) |
I189F |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,930,305 (GRCm39) |
L17Q |
probably damaging |
Het |
| Trim45 |
T |
A |
3: 100,830,385 (GRCm39) |
L53Q |
probably damaging |
Het |
| Ubr7 |
T |
C |
12: 102,735,414 (GRCm39) |
L291P |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,100,798 (GRCm39) |
V1878A |
probably damaging |
Het |
| Wdr90 |
T |
C |
17: 26,064,437 (GRCm39) |
|
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 53,013,811 (GRCm39) |
H42R |
probably benign |
Het |
| Zfp750 |
G |
A |
11: 121,403,778 (GRCm39) |
H366Y |
possibly damaging |
Het |
| Zmynd11 |
A |
G |
13: 9,739,601 (GRCm39) |
C462R |
probably damaging |
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 |
|
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 |
2016-08-02 |
Incidental Mutation