Incidental Mutation 'IGL02506:Adcy7'
ID |
296355 |
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: 0.427)
|
Stock # |
IGL02506
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
88999031-89056590 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 89044571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 488
(R488L)
|
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: R488L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096122 Gene: ENSMUSG00000031659 AA Change: R488L
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: R488L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129252 Gene: ENSMUSG00000031659 AA Change: R488L
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: R488L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130594 Gene: ENSMUSG00000031659 AA Change: R488L
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: R488L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132528 Gene: ENSMUSG00000031659 AA Change: R488L
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: R188L
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
A |
G |
17: 84,999,916 (GRCm39) |
E189G |
possibly damaging |
Het |
Acad11 |
T |
C |
9: 103,968,931 (GRCm39) |
|
probably null |
Het |
Akt1 |
C |
T |
12: 112,625,714 (GRCm39) |
|
probably benign |
Het |
Ano9 |
C |
T |
7: 140,682,167 (GRCm39) |
|
probably benign |
Het |
Arhgap15 |
A |
G |
2: 43,953,820 (GRCm39) |
D182G |
possibly damaging |
Het |
Asxl3 |
T |
A |
18: 22,585,456 (GRCm39) |
V127D |
probably benign |
Het |
Cacna1g |
A |
G |
11: 94,319,955 (GRCm39) |
M1407T |
probably damaging |
Het |
Card9 |
A |
C |
2: 26,244,427 (GRCm39) |
|
probably benign |
Het |
Cdh5 |
A |
G |
8: 104,864,454 (GRCm39) |
N472D |
probably damaging |
Het |
Ceacam2 |
T |
A |
7: 25,227,379 (GRCm39) |
T343S |
probably benign |
Het |
Cic |
T |
A |
7: 24,990,282 (GRCm39) |
C1928S |
probably benign |
Het |
Clk3 |
C |
T |
9: 57,661,927 (GRCm39) |
W31* |
probably null |
Het |
Cntn4 |
A |
G |
6: 106,595,349 (GRCm39) |
T489A |
probably benign |
Het |
Crispld1 |
G |
A |
1: 17,826,529 (GRCm39) |
R431H |
probably damaging |
Het |
Crmp1 |
T |
A |
5: 37,436,199 (GRCm39) |
|
probably benign |
Het |
Cyld |
A |
G |
8: 89,456,218 (GRCm39) |
T423A |
possibly damaging |
Het |
Cyp3a44 |
A |
T |
5: 145,736,198 (GRCm39) |
I84N |
probably damaging |
Het |
D2hgdh |
A |
G |
1: 93,757,507 (GRCm39) |
N141D |
probably damaging |
Het |
Dip2b |
T |
A |
15: 100,055,162 (GRCm39) |
L341Q |
probably damaging |
Het |
F3 |
C |
T |
3: 121,525,323 (GRCm39) |
T53I |
possibly damaging |
Het |
Fam227b |
T |
A |
2: 125,845,831 (GRCm39) |
Y386F |
probably benign |
Het |
Fmn1 |
A |
T |
2: 113,355,640 (GRCm39) |
T694S |
unknown |
Het |
Gcnt2 |
T |
A |
13: 41,040,856 (GRCm39) |
V5E |
probably benign |
Het |
Herpud1 |
G |
T |
8: 95,121,270 (GRCm39) |
E355* |
probably null |
Het |
Igf1r |
T |
C |
7: 67,843,144 (GRCm39) |
S752P |
probably benign |
Het |
Iqsec1 |
T |
C |
6: 90,649,057 (GRCm39) |
I687V |
possibly damaging |
Het |
Kdm5a |
T |
C |
6: 120,409,110 (GRCm39) |
S1598P |
probably damaging |
Het |
Klk1b9 |
A |
G |
7: 43,445,063 (GRCm39) |
E185G |
probably benign |
Het |
Myo16 |
G |
T |
8: 10,440,217 (GRCm39) |
R423L |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,100,207 (GRCm39) |
E1609G |
probably damaging |
Het |
Nom1 |
T |
A |
5: 29,644,814 (GRCm39) |
|
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,727,480 (GRCm39) |
I1040V |
possibly damaging |
Het |
Or8b39 |
G |
A |
9: 37,996,741 (GRCm39) |
G203D |
probably damaging |
Het |
Paqr9 |
T |
C |
9: 95,442,748 (GRCm39) |
V246A |
probably benign |
Het |
Pfkfb4 |
A |
T |
9: 108,859,404 (GRCm39) |
D437V |
probably benign |
Het |
Phldb1 |
G |
T |
9: 44,622,223 (GRCm39) |
D797E |
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 110,374,132 (GRCm39) |
E1399G |
probably damaging |
Het |
Plekhs1 |
G |
A |
19: 56,460,198 (GRCm39) |
C97Y |
probably damaging |
Het |
Plscr4 |
A |
T |
9: 92,372,044 (GRCm39) |
I272L |
possibly damaging |
Het |
Prlhr |
A |
C |
19: 60,456,366 (GRCm39) |
Y67D |
probably damaging |
Het |
Rab3gap2 |
A |
G |
1: 184,984,221 (GRCm39) |
|
probably benign |
Het |
Rad23b |
T |
C |
4: 55,382,511 (GRCm39) |
V238A |
probably benign |
Het |
Sel1l2 |
T |
C |
2: 140,117,380 (GRCm39) |
T164A |
possibly damaging |
Het |
Serpinh1 |
T |
A |
7: 98,996,199 (GRCm39) |
K295M |
probably damaging |
Het |
Slc45a4 |
T |
C |
15: 73,453,687 (GRCm39) |
E770G |
probably benign |
Het |
Spag4 |
T |
C |
2: 155,911,142 (GRCm39) |
L390P |
probably damaging |
Het |
Stip1 |
A |
G |
19: 7,012,857 (GRCm39) |
|
probably benign |
Het |
Tacr1 |
A |
G |
6: 82,380,739 (GRCm39) |
N50S |
probably damaging |
Het |
Tg |
T |
C |
15: 66,613,443 (GRCm39) |
V433A |
possibly damaging |
Het |
Ubap1l |
T |
A |
9: 65,276,493 (GRCm39) |
|
probably benign |
Het |
Usp40 |
A |
T |
1: 87,909,738 (GRCm39) |
I572K |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,917,308 (GRCm39) |
E3717D |
probably damaging |
Het |
Wdr81 |
T |
C |
11: 75,335,232 (GRCm39) |
N1778S |
probably benign |
Het |
Ylpm1 |
T |
A |
12: 85,095,965 (GRCm39) |
F1162Y |
probably damaging |
Het |
Zbtb10 |
T |
A |
3: 9,330,297 (GRCm39) |
F552I |
probably damaging |
Het |
Zfp507 |
T |
C |
7: 35,475,891 (GRCm39) |
I811V |
probably damaging |
Het |
Zfp663 |
A |
T |
2: 165,195,871 (GRCm39) |
V116D |
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 |
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 |
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 |
2015-04-16 |