Incidental Mutation 'R2201:Adcy7'
ID |
238666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy7
|
Ensembl Gene |
ENSMUSG00000031659 |
Gene Name |
adenylate cyclase 7 |
Synonyms |
|
MMRRC Submission |
040203-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.427)
|
Stock # |
R2201 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
88999031-89056590 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 89044606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 500
(A500T)
|
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: A500T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000096122 Gene: ENSMUSG00000031659 AA Change: A500T
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: A500T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129252 Gene: ENSMUSG00000031659 AA Change: A500T
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: A500T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000130594 Gene: ENSMUSG00000031659 AA Change: A500T
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: A500T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132528 Gene: ENSMUSG00000031659 AA Change: A500T
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 |
unknown
Transcript: ENSMUST00000210688
AA Change: A200T
|
Meta Mutation Damage Score |
0.5881 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (59/60) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
T |
6: 128,524,268 (GRCm39) |
N1121K |
probably null |
Het |
Actr10 |
A |
G |
12: 71,006,795 (GRCm39) |
N351D |
probably damaging |
Het |
Ankrd35 |
T |
C |
3: 96,586,564 (GRCm39) |
I80T |
possibly damaging |
Het |
Arap2 |
G |
A |
5: 62,864,028 (GRCm39) |
T532I |
probably damaging |
Het |
Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
Cc2d2a |
T |
C |
5: 43,841,375 (GRCm39) |
|
probably benign |
Het |
Cep85l |
A |
T |
10: 53,224,827 (GRCm39) |
M254K |
probably benign |
Het |
Clic4 |
A |
G |
4: 134,950,850 (GRCm39) |
S114P |
probably damaging |
Het |
Ctsj |
T |
C |
13: 61,150,363 (GRCm39) |
Y213C |
probably damaging |
Het |
Ddx28 |
A |
G |
8: 106,737,206 (GRCm39) |
V284A |
probably damaging |
Het |
Dnase2b |
T |
A |
3: 146,290,443 (GRCm39) |
D176V |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,729,111 (GRCm39) |
N663K |
probably damaging |
Het |
Dst |
T |
A |
1: 34,235,002 (GRCm39) |
S3694T |
possibly damaging |
Het |
Emilin1 |
T |
C |
5: 31,073,036 (GRCm39) |
S158P |
probably benign |
Het |
Eng |
T |
C |
2: 32,563,752 (GRCm39) |
|
probably benign |
Het |
Entrep2 |
T |
A |
7: 64,409,141 (GRCm39) |
M418L |
probably benign |
Het |
Fdxr |
C |
A |
11: 115,161,208 (GRCm39) |
V223L |
probably benign |
Het |
Fhip1b |
T |
C |
7: 105,037,398 (GRCm39) |
N395S |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,423,994 (GRCm39) |
M3148L |
probably benign |
Het |
Hip1 |
A |
T |
5: 135,460,584 (GRCm39) |
D114E |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,706,183 (GRCm39) |
|
probably benign |
Het |
Kcnt2 |
T |
A |
1: 140,437,179 (GRCm39) |
N487K |
probably damaging |
Het |
Krt6a |
A |
G |
15: 101,601,606 (GRCm39) |
F172L |
probably benign |
Het |
Megf8 |
C |
T |
7: 25,040,170 (GRCm39) |
R1034W |
probably damaging |
Het |
Muc6 |
C |
T |
7: 141,236,075 (GRCm39) |
D451N |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,125,225 (GRCm39) |
T1838A |
possibly damaging |
Het |
N4bp2l2 |
A |
T |
5: 150,585,073 (GRCm39) |
D302E |
probably damaging |
Het |
Nbeal2 |
T |
A |
9: 110,459,318 (GRCm39) |
I1930F |
probably benign |
Het |
Nhsl3 |
A |
G |
4: 129,116,432 (GRCm39) |
V732A |
probably benign |
Het |
Npas4 |
A |
T |
19: 5,037,392 (GRCm39) |
Y301N |
probably benign |
Het |
Nt5m |
A |
G |
11: 59,766,741 (GRCm39) |
K211E |
probably benign |
Het |
Pfn4 |
A |
G |
12: 4,824,382 (GRCm39) |
|
probably null |
Het |
Pfpl |
A |
C |
19: 12,407,843 (GRCm39) |
D698A |
probably benign |
Het |
Pias1 |
G |
T |
9: 62,859,137 (GRCm39) |
H124N |
possibly damaging |
Het |
Pja2 |
A |
T |
17: 64,618,162 (GRCm39) |
|
probably benign |
Het |
Polr3e |
T |
C |
7: 120,531,465 (GRCm39) |
Y185H |
probably benign |
Het |
Pomc |
T |
C |
12: 4,010,275 (GRCm39) |
L172S |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 71,875,533 (GRCm39) |
T129A |
probably damaging |
Het |
Reep1 |
T |
C |
6: 71,750,278 (GRCm39) |
S97P |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,029,067 (GRCm39) |
I595N |
possibly damaging |
Het |
Sap30 |
T |
C |
8: 57,938,506 (GRCm39) |
|
probably null |
Het |
Slc1a7 |
T |
C |
4: 107,850,203 (GRCm39) |
Y105H |
probably damaging |
Het |
Slc5a5 |
C |
T |
8: 71,345,102 (GRCm39) |
M68I |
probably damaging |
Het |
Stab2 |
T |
A |
10: 86,776,503 (GRCm39) |
Y791F |
probably benign |
Het |
Tdrd1 |
C |
A |
19: 56,847,094 (GRCm39) |
H912N |
probably benign |
Het |
Tdrd1 |
C |
A |
19: 56,847,093 (GRCm39) |
S911R |
probably benign |
Het |
Tgm7 |
A |
T |
2: 120,929,062 (GRCm39) |
F278Y |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,283,039 (GRCm39) |
T310A |
probably damaging |
Het |
Tmem256 |
T |
C |
11: 69,730,271 (GRCm39) |
I93T |
probably benign |
Het |
Trpm2 |
G |
A |
10: 77,756,305 (GRCm39) |
Q1172* |
probably null |
Het |
Ttll8 |
A |
G |
15: 88,818,156 (GRCm39) |
V173A |
possibly damaging |
Het |
Ubr5 |
T |
C |
15: 38,002,543 (GRCm39) |
S1497G |
possibly damaging |
Het |
Ubr7 |
G |
A |
12: 102,727,764 (GRCm39) |
|
probably null |
Het |
Vmn1r37 |
T |
A |
6: 66,708,878 (GRCm39) |
M1K |
probably null |
Het |
Vmn2r14 |
A |
G |
5: 109,366,698 (GRCm39) |
|
probably null |
Het |
Vmn2r72 |
T |
C |
7: 85,387,444 (GRCm39) |
I707V |
probably benign |
Het |
Vps8 |
A |
G |
16: 21,395,507 (GRCm39) |
R1266G |
probably damaging |
Het |
Wdr87-ps |
T |
A |
7: 29,235,950 (GRCm39) |
|
noncoding transcript |
Het |
Zfhx4 |
A |
G |
3: 5,307,349 (GRCm39) |
N192D |
probably damaging |
Het |
Zfp638 |
G |
C |
6: 83,906,500 (GRCm39) |
D222H |
probably damaging |
Het |
Zscan29 |
A |
C |
2: 120,999,883 (GRCm39) |
V106G |
probably damaging |
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 |
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 |
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'- GCCCATGCTCGAAGAATACTATAGG -3'
(R):5'- CACAATGCAGCTAAAGGGGC -3'
Sequencing Primer
(F):5'- TTTCCCAGACCAGCCAGTG -3'
(R):5'- CAGCTAAAGGGGCAAGGCTG -3'
|
Posted On |
2014-10-02 |