Incidental Mutation 'R8067:Adcy7'
| ID |
620064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy7
|
| Ensembl Gene |
ENSMUSG00000031659 |
| Gene Name |
adenylate cyclase 7 |
| Synonyms |
|
| MMRRC Submission |
067502-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.381)
|
| Stock # |
R8067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
88999031-89056590 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89037697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 255
(L255P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098521]
[ENSMUST00000168545]
[ENSMUST00000169037]
[ENSMUST00000171456]
|
| AlphaFold |
P51829 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098521
AA Change: L255P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: L255P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
53 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
113 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
179 |
198 |
N/A |
INTRINSIC |
|
CYCc
|
226 |
434 |
2.99e-64 |
SMART |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
Pfam:DUF1053
|
487 |
594 |
8.8e-27 |
PFAM |
|
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
|
transmembrane domain
|
670 |
692 |
N/A |
INTRINSIC |
|
transmembrane domain
|
719 |
741 |
N/A |
INTRINSIC |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
transmembrane domain
|
816 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
858 |
N/A |
INTRINSIC |
|
CYCc
|
859 |
1071 |
1.54e-43 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168545
AA Change: L255P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: L255P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
53 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
113 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
179 |
198 |
N/A |
INTRINSIC |
|
CYCc
|
226 |
434 |
2.99e-64 |
SMART |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
Pfam:DUF1053
|
487 |
594 |
8.8e-27 |
PFAM |
|
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
|
transmembrane domain
|
670 |
692 |
N/A |
INTRINSIC |
|
transmembrane domain
|
719 |
741 |
N/A |
INTRINSIC |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
transmembrane domain
|
816 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
858 |
N/A |
INTRINSIC |
|
CYCc
|
859 |
1071 |
1.54e-43 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169037
AA Change: L255P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: L255P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
53 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
113 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
179 |
198 |
N/A |
INTRINSIC |
|
CYCc
|
226 |
434 |
2.99e-64 |
SMART |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
Pfam:DUF1053
|
487 |
594 |
8.8e-27 |
PFAM |
|
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
|
transmembrane domain
|
670 |
692 |
N/A |
INTRINSIC |
|
transmembrane domain
|
719 |
741 |
N/A |
INTRINSIC |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
transmembrane domain
|
816 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
858 |
N/A |
INTRINSIC |
|
CYCc
|
859 |
1071 |
1.54e-43 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171456
AA Change: L255P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: L255P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
142 |
N/A |
INTRINSIC |
|
CYCc
|
226 |
434 |
2.99e-64 |
SMART |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
Pfam:DUF1053
|
487 |
594 |
1.2e-35 |
PFAM |
|
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
|
transmembrane domain
|
670 |
692 |
N/A |
INTRINSIC |
|
transmembrane domain
|
719 |
741 |
N/A |
INTRINSIC |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
transmembrane domain
|
816 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
858 |
N/A |
INTRINSIC |
|
CYCc
|
859 |
1071 |
1.54e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210688
|
| Meta Mutation Damage Score |
0.8679 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display some degree of pre- or postnatal lethality. Surviving adults for one allele appear to be normal. Heterozygous females for one allele display decreased depression related behaviors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
A |
T |
8: 13,608,643 (GRCm39) |
D145E |
possibly damaging |
Het |
| Cbx7 |
A |
T |
15: 79,818,099 (GRCm39) |
V1D |
unknown |
Het |
| Cd209c |
A |
C |
8: 3,995,700 (GRCm39) |
M34R |
probably benign |
Het |
| Chodl |
A |
T |
16: 78,743,601 (GRCm39) |
L229F |
probably damaging |
Het |
| Depdc5 |
C |
A |
5: 33,053,252 (GRCm39) |
N197K |
possibly damaging |
Het |
| Dnai1 |
T |
A |
4: 41,614,258 (GRCm39) |
D311E |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,400,392 (GRCm39) |
Y1017C |
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,562,336 (GRCm39) |
L927* |
probably null |
Het |
| Dpp10 |
A |
G |
1: 123,280,389 (GRCm39) |
S646P |
probably benign |
Het |
| Ebf1 |
G |
A |
11: 44,511,374 (GRCm39) |
V90M |
probably benign |
Het |
| Efhd1 |
C |
T |
1: 87,192,313 (GRCm39) |
P48S |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,398,380 (GRCm39) |
T908A |
probably benign |
Het |
| Fbxl16 |
G |
A |
17: 26,036,957 (GRCm39) |
V313I |
probably damaging |
Het |
| Git2 |
C |
T |
5: 114,904,579 (GRCm39) |
M113I |
probably damaging |
Het |
| Gpr87 |
T |
A |
3: 59,087,308 (GRCm39) |
I66F |
probably damaging |
Het |
| H60c |
A |
C |
10: 3,209,338 (GRCm39) |
L217V |
unknown |
Het |
| Iba57 |
T |
C |
11: 59,054,086 (GRCm39) |
|
probably benign |
Het |
| Igkv11-125 |
C |
A |
6: 67,890,814 (GRCm39) |
T44N |
probably benign |
Het |
| Itih2 |
T |
A |
2: 10,128,294 (GRCm39) |
I136F |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,329,836 (GRCm39) |
D1543E |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Mylk |
A |
T |
16: 34,792,389 (GRCm39) |
E1570V |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,964,639 (GRCm39) |
L896H |
probably damaging |
Het |
| Ndc1 |
T |
A |
4: 107,247,595 (GRCm39) |
S468T |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,395,094 (GRCm39) |
N512S |
probably damaging |
Het |
| Or51b6 |
A |
G |
7: 103,555,610 (GRCm39) |
|
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,568,147 (GRCm39) |
I174F |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,312,697 (GRCm39) |
I54V |
possibly damaging |
Het |
| Polr3c |
T |
C |
3: 96,622,968 (GRCm39) |
E350G |
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,390,976 (GRCm39) |
W1342R |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,478,836 (GRCm39) |
V486A |
possibly damaging |
Het |
| Rin2 |
T |
G |
2: 145,702,977 (GRCm39) |
S558A |
probably damaging |
Het |
| Ripk4 |
A |
T |
16: 97,564,737 (GRCm39) |
V58D |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 179,238,028 (GRCm39) |
M113T |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 57,843,984 (GRCm39) |
|
probably null |
Het |
| Srgap3 |
C |
T |
6: 112,716,325 (GRCm39) |
R625H |
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,619,602 (GRCm39) |
V2210I |
probably benign |
Het |
| Tmed2 |
T |
C |
5: 124,684,986 (GRCm39) |
I134T |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,201,464 (GRCm39) |
S353R |
probably damaging |
Het |
| Xdh |
T |
A |
17: 74,207,652 (GRCm39) |
R902W |
probably benign |
Het |
| Zbtb5 |
A |
T |
4: 44,994,972 (GRCm39) |
S137R |
probably benign |
Het |
| Zfp286 |
A |
T |
11: 62,644,345 (GRCm39) |
I192K |
unknown |
Het |
| Zfp942 |
T |
C |
17: 22,149,391 (GRCm39) |
Y38C |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,062,323 (GRCm39) |
S461P |
probably benign |
Het |
|
| Other mutations in Adcy7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:Adcy7
|
APN |
8 |
89,045,418 (GRCm39) |
splice site |
probably benign |
|
|
IGL01434:Adcy7
|
APN |
8 |
89,051,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01784:Adcy7
|
APN |
8 |
89,040,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Adcy7
|
APN |
8 |
89,044,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03184:Adcy7
|
APN |
8 |
89,035,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03406:Adcy7
|
APN |
8 |
89,044,947 (GRCm39) |
nonsense |
probably null |
|
|
Churchill
|
UTSW |
8 |
89,042,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
democracy
|
UTSW |
8 |
89,042,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Dictatorship
|
UTSW |
8 |
89,037,736 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
periphery
|
UTSW |
8 |
89,044,565 (GRCm39) |
missense |
probably benign |
0.01 |
|
republic
|
UTSW |
8 |
89,040,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tyranny
|
UTSW |
8 |
89,038,856 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
PIT4283001:Adcy7
|
UTSW |
8 |
89,042,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Adcy7
|
UTSW |
8 |
89,050,264 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0265:Adcy7
|
UTSW |
8 |
89,051,391 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0963:Adcy7
|
UTSW |
8 |
89,038,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0990:Adcy7
|
UTSW |
8 |
89,052,080 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1055:Adcy7
|
UTSW |
8 |
89,044,685 (GRCm39) |
splice site |
probably benign |
|
|
R1494:Adcy7
|
UTSW |
8 |
89,046,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1764:Adcy7
|
UTSW |
8 |
89,035,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2062:Adcy7
|
UTSW |
8 |
89,038,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Adcy7
|
UTSW |
8 |
89,042,485 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2201:Adcy7
|
UTSW |
8 |
89,044,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2413:Adcy7
|
UTSW |
8 |
89,036,446 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2849:Adcy7
|
UTSW |
8 |
89,054,021 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4020:Adcy7
|
UTSW |
8 |
89,035,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4086:Adcy7
|
UTSW |
8 |
89,042,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4679:Adcy7
|
UTSW |
8 |
89,044,565 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5069:Adcy7
|
UTSW |
8 |
89,054,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5253:Adcy7
|
UTSW |
8 |
89,040,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5286:Adcy7
|
UTSW |
8 |
89,051,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5427:Adcy7
|
UTSW |
8 |
89,052,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5457:Adcy7
|
UTSW |
8 |
89,037,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Adcy7
|
UTSW |
8 |
89,051,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5907:Adcy7
|
UTSW |
8 |
89,038,856 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5909:Adcy7
|
UTSW |
8 |
89,052,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Adcy7
|
UTSW |
8 |
89,053,020 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6038:Adcy7
|
UTSW |
8 |
89,049,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6038:Adcy7
|
UTSW |
8 |
89,049,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6133:Adcy7
|
UTSW |
8 |
89,052,067 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6190:Adcy7
|
UTSW |
8 |
89,052,358 (GRCm39) |
splice site |
probably null |
|
|
R6213:Adcy7
|
UTSW |
8 |
89,040,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6287:Adcy7
|
UTSW |
8 |
89,037,736 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6502:Adcy7
|
UTSW |
8 |
89,052,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6989:Adcy7
|
UTSW |
8 |
89,035,414 (GRCm39) |
missense |
probably benign |
|
|
R7042:Adcy7
|
UTSW |
8 |
89,042,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7829:Adcy7
|
UTSW |
8 |
89,042,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8113:Adcy7
|
UTSW |
8 |
89,048,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8118:Adcy7
|
UTSW |
8 |
89,042,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Adcy7
|
UTSW |
8 |
89,037,666 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8402:Adcy7
|
UTSW |
8 |
89,035,363 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8421:Adcy7
|
UTSW |
8 |
89,048,812 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8549:Adcy7
|
UTSW |
8 |
89,052,818 (GRCm39) |
missense |
probably benign |
|
|
R8827:Adcy7
|
UTSW |
8 |
89,036,327 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9076:Adcy7
|
UTSW |
8 |
89,054,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Adcy7
|
UTSW |
8 |
89,044,675 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9276:Adcy7
|
UTSW |
8 |
89,052,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9465:Adcy7
|
UTSW |
8 |
89,046,778 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9515:Adcy7
|
UTSW |
8 |
89,037,646 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9536:Adcy7
|
UTSW |
8 |
89,053,026 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9564:Adcy7
|
UTSW |
8 |
89,053,053 (GRCm39) |
frame shift |
probably null |
|
|
R9565:Adcy7
|
UTSW |
8 |
89,053,053 (GRCm39) |
frame shift |
probably null |
|
|
R9659:Adcy7
|
UTSW |
8 |
89,045,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9735:Adcy7
|
UTSW |
8 |
89,037,262 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9788:Adcy7
|
UTSW |
8 |
89,045,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0067:Adcy7
|
UTSW |
8 |
89,051,228 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACGTAGATATAAACGCGC -3'
(R):5'- CCTGTATAGACTGAAGCTCCCTAC -3'
Sequencing Primer
(F):5'- CAAAGGCATTGTGGGTAGAACTTG -3'
(R):5'- TGAAGCTCCCTACAGTGAACTATCTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation