Incidental Mutation 'R4086:Adcy7'
| ID |
317369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy7
|
| Ensembl Gene |
ENSMUSG00000031659 |
| Gene Name |
adenylate cyclase 7 |
| Synonyms |
|
| MMRRC Submission |
041625-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.427)
|
| Stock # |
R4086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
88999031-89056590 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89042414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 427
(D427G)
|
| 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: D427G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: D427G
| 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: D427G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: D427G
| 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: D427G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: D427G
| 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: D427G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: D427G
| 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: D127G
|
| Meta Mutation Damage Score |
0.1091 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (58/58) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd7 |
G |
A |
2: 3,341,488 (GRCm39) |
|
probably null |
Het |
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Adrm1 |
A |
G |
2: 179,814,627 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,233,984 (GRCm39) |
I1103M |
probably benign |
Het |
| Arhgap32 |
A |
C |
9: 32,158,362 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,103,712 (GRCm39) |
R767G |
probably damaging |
Het |
| BC046251 |
A |
G |
7: 65,231,896 (GRCm39) |
|
noncoding transcript |
Het |
| Brwd1 |
T |
C |
16: 95,847,572 (GRCm39) |
S683G |
probably benign |
Het |
| Calcoco1 |
C |
G |
15: 102,618,834 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,208,444 (GRCm39) |
P834T |
possibly damaging |
Het |
| Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,167,192 (GRCm39) |
G1090R |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,510,833 (GRCm39) |
D30E |
probably damaging |
Het |
| Fam181b |
T |
C |
7: 92,729,788 (GRCm39) |
V187A |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbxo41 |
C |
T |
6: 85,455,528 (GRCm39) |
R552Q |
possibly damaging |
Het |
| Fstl5 |
G |
T |
3: 76,555,593 (GRCm39) |
C53F |
probably damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,140,395 (GRCm39) |
Y791C |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm15446 |
A |
G |
5: 110,091,121 (GRCm39) |
K458E |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,870,815 (GRCm39) |
I1389V |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,316,428 (GRCm39) |
|
probably benign |
Het |
| Krtap31-1 |
C |
T |
11: 99,799,145 (GRCm39) |
T116I |
possibly damaging |
Het |
| Mafa |
T |
G |
15: 75,618,986 (GRCm39) |
K262N |
probably damaging |
Het |
| Nxph4 |
T |
C |
10: 127,362,555 (GRCm39) |
Y112C |
probably damaging |
Het |
| Or5ak4 |
C |
A |
2: 85,162,170 (GRCm39) |
W24L |
probably benign |
Het |
| Or6c70 |
A |
G |
10: 129,710,167 (GRCm39) |
V153A |
possibly damaging |
Het |
| Pgls |
G |
A |
8: 72,048,734 (GRCm39) |
A142T |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,274,891 (GRCm39) |
I885V |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,288,679 (GRCm39) |
D544G |
probably damaging |
Het |
| Rnf44 |
T |
C |
13: 54,830,148 (GRCm39) |
N254D |
possibly damaging |
Het |
| Septin10 |
A |
T |
10: 59,028,045 (GRCm39) |
L92* |
probably null |
Het |
| Slc14a2 |
A |
T |
18: 78,248,998 (GRCm39) |
I156N |
probably damaging |
Het |
| Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,701 (GRCm39) |
D623G |
possibly damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
| Ube2u |
T |
A |
4: 100,407,039 (GRCm39) |
I187N |
probably benign |
Het |
| Vmn1r90 |
G |
A |
7: 14,297,219 (GRCm39) |
|
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Xpo4 |
C |
T |
14: 57,880,490 (GRCm39) |
|
probably benign |
Het |
| Zbtb21 |
A |
T |
16: 97,753,963 (GRCm39) |
Y135N |
probably damaging |
Het |
| Zbtb22 |
T |
A |
17: 34,137,142 (GRCm39) |
V429D |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,317 (GRCm39) |
E643G |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,765,879 (GRCm39) |
H1469Y |
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 |
|
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'- TGTGGTCCCATGATGTGTCC -3'
(R):5'- CACAGTCTTGAGGGTCAATGAC -3'
Sequencing Primer
(F):5'- ATGATGTGTCCCTGGCCAAC -3'
(R):5'- GTCAATGACCTCAAGTTGGGACC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation