Incidental Mutation 'R6426:Adcyap1r1'
| ID |
518324 |
| 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 |
044565-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R6426 (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 G
at 55471172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 365
(L365R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070736]
[ENSMUST00000070756]
[ENSMUST00000165786]
[ENSMUST00000165857]
[ENSMUST00000167234]
[ENSMUST00000172084]
|
| AlphaFold |
P70205 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070736
AA Change: L414R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063784
Gene: ENSMUSG00000029778
AA Change: L414R
| 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: L386R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066902
Gene: ENSMUSG00000029778
AA Change: L386R
| 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: L413R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130923
Gene: ENSMUSG00000029778
AA Change: L413R
| 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: L414R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129614
Gene: ENSMUSG00000029778
AA Change: L414R
| 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: L442R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126994
Gene: ENSMUSG00000029778
AA Change: L442R
| 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: L365R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127319
Gene: ENSMUSG00000029778
AA Change: L365R
| 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 |
0.9668 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.5%
|
| Validation Efficiency |
100% (34/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Adgre4 |
A |
G |
17: 56,109,196 (GRCm39) |
N401S |
probably benign |
Het |
| Adgrl3 |
A |
T |
5: 81,874,717 (GRCm39) |
S1073C |
probably damaging |
Het |
| Bicral |
G |
A |
17: 47,141,005 (GRCm39) |
P26S |
probably benign |
Het |
| Cst3 |
G |
T |
2: 148,713,917 (GRCm39) |
T129K |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,753 (GRCm39) |
M287T |
probably benign |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,645 (GRCm39) |
V611A |
probably damaging |
Het |
| Fam149a |
C |
A |
8: 45,834,611 (GRCm39) |
A63S |
probably benign |
Het |
| Fhip2a |
T |
G |
19: 57,371,610 (GRCm39) |
L574R |
probably damaging |
Het |
| Foxred2 |
C |
G |
15: 77,837,508 (GRCm39) |
A243P |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,436 (GRCm39) |
D307E |
probably damaging |
Het |
| Lca5 |
G |
A |
9: 83,277,707 (GRCm39) |
Q546* |
probably null |
Het |
| Mfsd4b1 |
T |
C |
10: 39,882,073 (GRCm39) |
T71A |
possibly damaging |
Het |
| Onecut1 |
A |
G |
9: 74,769,631 (GRCm39) |
H18R |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,212 (GRCm39) |
V288A |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,595,093 (GRCm39) |
Q414K |
probably damaging |
Het |
| Ppp4r2 |
T |
C |
6: 100,829,558 (GRCm39) |
Y77H |
probably damaging |
Het |
| Prr19 |
A |
G |
7: 25,003,262 (GRCm39) |
D292G |
probably damaging |
Het |
| Pum1 |
G |
A |
4: 130,481,283 (GRCm39) |
R464H |
probably damaging |
Het |
| Rhoq |
G |
T |
17: 87,302,442 (GRCm39) |
R126L |
probably damaging |
Het |
| Sdhb |
A |
G |
4: 140,701,029 (GRCm39) |
K162E |
probably benign |
Het |
| Sema3d |
G |
A |
5: 12,613,231 (GRCm39) |
G436E |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,038,814 (GRCm39) |
M823K |
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,969,857 (GRCm39) |
E977D |
probably null |
Het |
| Tns2 |
A |
T |
15: 102,015,472 (GRCm39) |
M125L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,542,313 (GRCm39) |
K31812* |
probably null |
Het |
| Ube4b |
G |
A |
4: 149,510,453 (GRCm39) |
|
probably benign |
Het |
| Vmn2r91 |
G |
A |
17: 18,355,865 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
G |
A |
5: 38,360,431 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
T |
A |
14: 20,768,594 (GRCm39) |
S1035T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCTAGGACCAACGTCAGG -3'
(R):5'- GTGACAGGCAAACTTCATTACATC -3'
Sequencing Primer
(F):5'- ACCAACGTCAGGCCCTCTG -3'
(R):5'- ACATCTTCTTACAGTAGCAGACAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation