Incidental Mutation 'IGL03184:Adcy7'
ID |
412399 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adcy7
|
Ensembl Gene |
ENSMUSG00000031659 |
Gene Name |
adenylate cyclase 7 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.381)
|
Stock # |
IGL03184
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
88999031-89056590 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89035271 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 58
(D58E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132528
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098521]
[ENSMUST00000168545]
[ENSMUST00000169037]
[ENSMUST00000171456]
|
AlphaFold |
P51829 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098521
AA Change: D58E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000096122 Gene: ENSMUSG00000031659 AA Change: D58E
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 benign
Transcript: ENSMUST00000168545
AA Change: D58E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000129252 Gene: ENSMUSG00000031659 AA Change: D58E
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 benign
Transcript: ENSMUST00000169037
AA Change: D58E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000130594 Gene: ENSMUSG00000031659 AA Change: D58E
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 benign
Transcript: ENSMUST00000171456
AA Change: D58E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000132528 Gene: ENSMUSG00000031659 AA Change: D58E
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211311
|
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 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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,471,570 (GRCm39) |
Y992H |
possibly damaging |
Het |
Actmap |
A |
G |
7: 26,896,432 (GRCm39) |
|
probably benign |
Het |
Aff2 |
G |
A |
X: 68,810,840 (GRCm39) |
V404M |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,780,830 (GRCm39) |
L1961M |
probably damaging |
Het |
Brms1l |
T |
C |
12: 55,915,062 (GRCm39) |
*324Q |
probably null |
Het |
Bub1b |
T |
C |
2: 118,440,258 (GRCm39) |
|
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,548,501 (GRCm39) |
|
probably null |
Het |
Clrn1 |
T |
A |
3: 58,753,645 (GRCm39) |
T239S |
probably benign |
Het |
Clta |
T |
C |
4: 44,025,514 (GRCm39) |
Y145H |
probably benign |
Het |
Coro6 |
T |
C |
11: 77,354,779 (GRCm39) |
V14A |
probably damaging |
Het |
Cyp4a30b |
A |
G |
4: 115,316,216 (GRCm39) |
D314G |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,648,656 (GRCm39) |
N1418D |
probably benign |
Het |
Fshr |
A |
C |
17: 89,354,068 (GRCm39) |
L97V |
possibly damaging |
Het |
Gcm2 |
T |
C |
13: 41,258,888 (GRCm39) |
Q152R |
probably damaging |
Het |
Gcnt2 |
A |
G |
13: 41,041,660 (GRCm39) |
N273S |
probably benign |
Het |
Gm11437 |
A |
T |
11: 84,047,090 (GRCm39) |
|
probably benign |
Het |
Gm4559 |
A |
G |
7: 141,828,046 (GRCm39) |
S19P |
unknown |
Het |
Igsf8 |
T |
G |
1: 172,146,199 (GRCm39) |
I462R |
probably damaging |
Het |
Kirrel3 |
T |
C |
9: 34,919,052 (GRCm39) |
F243S |
probably damaging |
Het |
Krt80 |
C |
T |
15: 101,250,135 (GRCm39) |
V37M |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,954,839 (GRCm39) |
Y1131H |
probably damaging |
Het |
Mrpl21 |
T |
C |
19: 3,342,529 (GRCm39) |
|
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,661,209 (GRCm39) |
N923S |
probably benign |
Het |
Nectin2 |
G |
A |
7: 19,472,231 (GRCm39) |
P53S |
possibly damaging |
Het |
Nup98 |
G |
A |
7: 101,832,752 (GRCm39) |
T335I |
probably damaging |
Het |
Or2y1e |
C |
A |
11: 49,218,568 (GRCm39) |
T110K |
probably damaging |
Het |
Or4a74 |
T |
C |
2: 89,439,912 (GRCm39) |
D178G |
probably damaging |
Het |
Or4e5 |
A |
G |
14: 52,728,380 (GRCm39) |
S14P |
probably benign |
Het |
Or51a42 |
T |
A |
7: 103,708,054 (GRCm39) |
I252F |
probably damaging |
Het |
Or6c69c |
T |
C |
10: 129,910,627 (GRCm39) |
M116T |
possibly damaging |
Het |
Pcdhb14 |
A |
G |
18: 37,582,085 (GRCm39) |
E397G |
probably benign |
Het |
Pcgf5 |
T |
G |
19: 36,412,076 (GRCm39) |
|
probably benign |
Het |
Pclo |
C |
T |
5: 14,764,457 (GRCm39) |
P1025L |
probably damaging |
Het |
Pdcd1lg2 |
C |
A |
19: 29,431,911 (GRCm39) |
F226L |
probably benign |
Het |
Pik3ca |
T |
A |
3: 32,494,035 (GRCm39) |
S332R |
probably benign |
Het |
Plek |
A |
T |
11: 16,931,887 (GRCm39) |
D321E |
probably benign |
Het |
Pm20d2 |
A |
G |
4: 33,179,241 (GRCm39) |
F333L |
probably damaging |
Het |
Polk |
T |
C |
13: 96,620,491 (GRCm39) |
T570A |
probably benign |
Het |
Rpgrip1l |
G |
A |
8: 92,027,437 (GRCm39) |
L201F |
probably damaging |
Het |
Serpinb2 |
T |
A |
1: 107,452,607 (GRCm39) |
L395H |
probably damaging |
Het |
Slc9c1 |
T |
G |
16: 45,368,003 (GRCm39) |
S197R |
probably damaging |
Het |
Smg1 |
T |
A |
7: 117,779,603 (GRCm39) |
E1264V |
possibly damaging |
Het |
Sned1 |
A |
G |
1: 93,202,390 (GRCm39) |
D678G |
probably benign |
Het |
Sorcs2 |
A |
G |
5: 36,188,556 (GRCm39) |
S851P |
probably benign |
Het |
Srcap |
A |
G |
7: 127,129,674 (GRCm39) |
|
probably benign |
Het |
Tbck |
T |
C |
3: 132,441,864 (GRCm39) |
Y557H |
probably damaging |
Het |
Tfap2d |
T |
C |
1: 19,189,110 (GRCm39) |
S219P |
probably damaging |
Het |
Trim9 |
T |
C |
12: 70,297,995 (GRCm39) |
D570G |
probably damaging |
Het |
Usp25 |
A |
G |
16: 76,878,541 (GRCm39) |
Y655C |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,585,910 (GRCm39) |
T956S |
probably benign |
Het |
Vmn1r68 |
T |
A |
7: 10,261,799 (GRCm39) |
I100F |
probably benign |
Het |
Vps13a |
A |
T |
19: 16,631,734 (GRCm39) |
S2634T |
probably benign |
Het |
Zfp472 |
T |
A |
17: 33,196,390 (GRCm39) |
L155* |
probably null |
Het |
Zfp808 |
A |
G |
13: 62,317,381 (GRCm39) |
I43M |
possibly 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 |
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 |
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 |
|
|
Posted On |
2016-08-02 |