Incidental Mutation 'R7042:Adcy7'
| ID |
547111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy7
|
| Ensembl Gene |
ENSMUSG00000031659 |
| Gene Name |
adenylate cyclase 7 |
| Synonyms |
|
| MMRRC Submission |
045141-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.381)
|
| Stock # |
R7042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
88999031-89056590 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89042378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 415
(R415L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098521]
[ENSMUST00000168545]
[ENSMUST00000169037]
[ENSMUST00000171456]
|
| AlphaFold |
P51829 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098521
AA Change: R415L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: R415L
| 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: R415L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: R415L
| 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: R415L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: R415L
| 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: R415L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: R415L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (54/54) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,192,098 (GRCm39) |
S554G |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,141,759 (GRCm39) |
I1182F |
probably damaging |
Het |
| Ccdc7b |
T |
A |
8: 129,811,730 (GRCm39) |
Y147N |
probably benign |
Het |
| Clcnka |
A |
G |
4: 141,118,691 (GRCm39) |
I398T |
probably damaging |
Het |
| Cst8 |
T |
A |
2: 148,641,796 (GRCm39) |
|
probably null |
Het |
| Dcxr |
T |
C |
11: 120,617,841 (GRCm39) |
D45G |
possibly damaging |
Het |
| Dhx38 |
A |
T |
8: 110,283,617 (GRCm39) |
M510K |
possibly damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,218,061 (GRCm39) |
I182M |
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,882,338 (GRCm39) |
H431Q |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,768,999 (GRCm39) |
I681T |
probably damaging |
Het |
| Etf1 |
T |
C |
18: 35,043,219 (GRCm39) |
N164S |
probably benign |
Het |
| Fmo2 |
A |
G |
1: 162,708,226 (GRCm39) |
V303A |
probably damaging |
Het |
| Foxl2 |
T |
A |
9: 98,837,715 (GRCm39) |
M1K |
probably null |
Het |
| Gm3404 |
A |
T |
5: 146,462,969 (GRCm39) |
E50D |
probably benign |
Het |
| Gpr61 |
G |
A |
3: 108,058,647 (GRCm39) |
P5S |
possibly damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,024,653 (GRCm39) |
|
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,017,828 (GRCm39) |
F3I |
possibly damaging |
Het |
| Ifi206 |
G |
A |
1: 173,308,808 (GRCm39) |
P396L |
|
Het |
| Ifi209 |
G |
A |
1: 173,470,236 (GRCm39) |
V275I |
probably benign |
Het |
| Ighv1-69 |
T |
C |
12: 115,586,909 (GRCm39) |
S75G |
probably benign |
Het |
| Kcnj3 |
A |
T |
2: 55,484,877 (GRCm39) |
H325L |
possibly damaging |
Het |
| Klrk1 |
A |
T |
6: 129,593,734 (GRCm39) |
S50T |
possibly damaging |
Het |
| Mfsd4b4 |
T |
A |
10: 39,768,514 (GRCm39) |
Y193F |
probably damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,116,905 (GRCm39) |
I210V |
possibly damaging |
Het |
| Or4p20 |
T |
A |
2: 88,253,746 (GRCm39) |
I208F |
possibly damaging |
Het |
| Or5w12 |
A |
T |
2: 87,501,935 (GRCm39) |
Y259N |
possibly damaging |
Het |
| Or8b3 |
G |
T |
9: 38,314,196 (GRCm39) |
G6C |
probably damaging |
Het |
| Or8d23 |
A |
G |
9: 38,841,622 (GRCm39) |
S52G |
possibly damaging |
Het |
| Pax6 |
A |
T |
2: 105,526,718 (GRCm39) |
H208L |
probably benign |
Het |
| Pgc |
C |
A |
17: 48,044,745 (GRCm39) |
Q331K |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,605,721 (GRCm39) |
S370P |
probably damaging |
Het |
| Pi4k2a |
T |
C |
19: 42,093,337 (GRCm39) |
I226T |
probably benign |
Het |
| Pick1 |
T |
C |
15: 79,132,965 (GRCm39) |
S342P |
probably damaging |
Het |
| Plscr1 |
A |
G |
9: 92,153,588 (GRCm39) |
M312V |
probably damaging |
Het |
| Ppp3cc |
T |
G |
14: 70,462,468 (GRCm39) |
K399Q |
probably benign |
Het |
| Qpctl |
T |
C |
7: 18,880,943 (GRCm39) |
H163R |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,351,110 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rasal1 |
T |
A |
5: 120,802,025 (GRCm39) |
|
probably null |
Het |
| Rem2 |
T |
A |
14: 54,715,548 (GRCm39) |
I171N |
probably damaging |
Het |
| Sec22a |
T |
A |
16: 35,149,885 (GRCm39) |
I214L |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 79,130,070 (GRCm39) |
D54G |
probably damaging |
Het |
| Slc27a2 |
C |
T |
2: 126,409,700 (GRCm39) |
A294V |
probably damaging |
Het |
| Slfn14 |
T |
A |
11: 83,167,430 (GRCm39) |
D695V |
probably damaging |
Het |
| Smc6 |
T |
A |
12: 11,359,301 (GRCm39) |
I975K |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,206,043 (GRCm39) |
F835L |
probably benign |
Het |
| Tars2 |
A |
T |
3: 95,658,057 (GRCm39) |
H222Q |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,206,477 (GRCm39) |
F273I |
probably damaging |
Het |
| Ttc39d |
C |
A |
17: 80,523,891 (GRCm39) |
D183E |
probably benign |
Het |
| Vasp |
A |
G |
7: 18,995,946 (GRCm39) |
S128P |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,818,378 (GRCm39) |
S2P |
unknown |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,184 (GRCm39) |
Y729H |
probably benign |
Het |
| Wdr18 |
A |
T |
10: 79,801,944 (GRCm39) |
D243V |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,343,633 (GRCm39) |
V1958A |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,474 (GRCm39) |
M492K |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,820,042 (GRCm39) |
I1007T |
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 |
|
|
R7829:Adcy7
|
UTSW |
8 |
89,042,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8067:Adcy7
|
UTSW |
8 |
89,037,697 (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'- TGTGGTCCCATGATGTGTCC -3'
(R):5'- CACAGTCTTGAGGGTCAATGAC -3'
Sequencing Primer
(F):5'- ATGATGTGTCCCTGGCCAAC -3'
(R):5'- GTCAATGACCTCAAGTTGGGACC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation