Incidental Mutation 'R1055:Adcy7'
ID |
94275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy7
|
Ensembl Gene |
ENSMUSG00000031659 |
Gene Name |
adenylate cyclase 7 |
Synonyms |
|
MMRRC Submission |
039145-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.381)
|
Stock # |
R1055 (G1)
|
Quality Score |
147 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
88999031-89056590 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 89044685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098521]
[ENSMUST00000168545]
[ENSMUST00000169037]
[ENSMUST00000171456]
|
AlphaFold |
P51829 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098521
|
SMART Domains |
Protein: ENSMUSP00000096122 Gene: ENSMUSG00000031659
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
|
SMART Domains |
Protein: ENSMUSP00000129252 Gene: ENSMUSG00000031659
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
|
SMART Domains |
Protein: ENSMUSP00000130594 Gene: ENSMUSG00000031659
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
|
SMART Domains |
Protein: ENSMUSP00000132528 Gene: ENSMUSG00000031659
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
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.3%
- 20x: 87.5%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
A |
G |
14: 64,210,724 (GRCm39) |
V168A |
possibly damaging |
Het |
A1cf |
C |
A |
19: 31,909,919 (GRCm39) |
T237N |
probably benign |
Het |
Actl10 |
A |
T |
2: 154,394,588 (GRCm39) |
Q180L |
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,059,075 (GRCm39) |
L327P |
probably damaging |
Het |
Ahctf1 |
G |
A |
1: 179,591,051 (GRCm39) |
T1243I |
possibly damaging |
Het |
Akap6 |
C |
T |
12: 52,927,455 (GRCm39) |
Q122* |
probably null |
Het |
Apob |
G |
A |
12: 8,044,963 (GRCm39) |
G861D |
probably damaging |
Het |
Arhgef11 |
A |
C |
3: 87,624,425 (GRCm39) |
T539P |
probably benign |
Het |
Cd244a |
T |
A |
1: 171,404,844 (GRCm39) |
V232E |
probably damaging |
Het |
Chia1 |
A |
C |
3: 106,038,199 (GRCm39) |
D365A |
probably damaging |
Het |
Clpsl2 |
C |
T |
17: 28,768,500 (GRCm39) |
Q5* |
probably null |
Het |
Clrn1 |
T |
A |
3: 58,772,531 (GRCm39) |
I117F |
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,744,933 (GRCm39) |
L1354P |
probably damaging |
Het |
Csn2 |
G |
A |
5: 87,842,596 (GRCm39) |
P144S |
possibly damaging |
Het |
Dcdc2a |
T |
A |
13: 25,286,593 (GRCm39) |
M172K |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 66,050,837 (GRCm39) |
W152R |
probably damaging |
Het |
Dnmt3a |
T |
A |
12: 3,922,864 (GRCm39) |
S82T |
probably benign |
Het |
Ebf1 |
A |
G |
11: 44,523,602 (GRCm39) |
K146E |
probably damaging |
Het |
Gfpt2 |
A |
C |
11: 49,718,038 (GRCm39) |
R504S |
probably damaging |
Het |
Gpank1 |
T |
A |
17: 35,343,284 (GRCm39) |
S255T |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,732,252 (GRCm39) |
M1570V |
probably damaging |
Het |
Gtf2i |
A |
T |
5: 134,292,478 (GRCm39) |
I403K |
probably damaging |
Het |
Hoxc11 |
T |
A |
15: 102,863,270 (GRCm39) |
C104S |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ilrun |
T |
C |
17: 27,986,910 (GRCm39) |
N272S |
probably damaging |
Het |
Khdrbs2 |
A |
T |
1: 32,683,238 (GRCm39) |
|
probably benign |
Het |
Lix1l |
G |
T |
3: 96,528,626 (GRCm39) |
G200V |
probably damaging |
Het |
Lrrc23 |
T |
C |
6: 124,755,114 (GRCm39) |
N141S |
probably damaging |
Het |
Marchf11 |
A |
T |
15: 26,309,748 (GRCm39) |
D134V |
probably damaging |
Het |
Myo9a |
A |
T |
9: 59,762,653 (GRCm39) |
T795S |
probably benign |
Het |
Nhsl1 |
T |
A |
10: 18,401,223 (GRCm39) |
D782E |
probably benign |
Het |
Nptxr |
T |
C |
15: 79,674,456 (GRCm39) |
|
probably benign |
Het |
Nrp1 |
A |
G |
8: 129,195,079 (GRCm39) |
M512V |
possibly damaging |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or12e7 |
ATTGCTACTC |
A |
2: 87,287,781 (GRCm39) |
|
probably benign |
Het |
Or5b3 |
G |
A |
19: 13,388,754 (GRCm39) |
A274T |
probably benign |
Het |
Pard3 |
T |
C |
8: 128,104,761 (GRCm39) |
F267S |
probably benign |
Het |
Pomt2 |
G |
A |
12: 87,194,254 (GRCm39) |
T50M |
possibly damaging |
Het |
Qsox2 |
A |
G |
2: 26,104,137 (GRCm39) |
Y298H |
probably damaging |
Het |
Rabgap1 |
A |
G |
2: 37,382,080 (GRCm39) |
K450E |
possibly damaging |
Het |
Rpa1 |
A |
T |
11: 75,193,558 (GRCm39) |
V591D |
probably damaging |
Het |
Sall3 |
A |
C |
18: 81,013,007 (GRCm39) |
M1143R |
probably benign |
Het |
Scgb1b19 |
G |
T |
7: 32,986,768 (GRCm39) |
A13S |
unknown |
Het |
Scn1a |
T |
C |
2: 66,168,340 (GRCm39) |
T89A |
probably benign |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sdr42e1 |
T |
G |
8: 118,390,323 (GRCm39) |
N106T |
probably damaging |
Het |
Shpk |
A |
T |
11: 73,105,945 (GRCm39) |
M266L |
probably benign |
Het |
Slc34a1 |
G |
T |
13: 55,550,846 (GRCm39) |
R139L |
probably benign |
Het |
Smbd1 |
C |
A |
16: 32,627,088 (GRCm39) |
D67Y |
probably damaging |
Het |
Srd5a3 |
A |
G |
5: 76,301,485 (GRCm39) |
N238S |
probably benign |
Het |
Tmprss2 |
T |
C |
16: 97,377,462 (GRCm39) |
N212D |
probably damaging |
Het |
Uap1 |
G |
T |
1: 169,984,480 (GRCm39) |
|
probably benign |
Het |
Ugt1a6a |
A |
G |
1: 88,066,736 (GRCm39) |
M181V |
probably benign |
Het |
Vmn2r32 |
C |
T |
7: 7,477,326 (GRCm39) |
W355* |
probably null |
Het |
Vmn2r86 |
T |
A |
10: 130,282,226 (GRCm39) |
S797C |
probably damaging |
Het |
Wiz |
A |
G |
17: 32,606,616 (GRCm39) |
S40P |
probably damaging |
Het |
Zfand6 |
A |
G |
7: 84,265,181 (GRCm39) |
|
probably benign |
Het |
Zfp280d |
G |
A |
9: 72,236,449 (GRCm39) |
|
probably null |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TATCTGTGCTTACAGAGCCAGCAGC -3'
(R):5'- CGGTAATCACTCCCTGAACACTGTC -3'
Sequencing Primer
(F):5'- AGCCACCACCTCTCCAAG -3'
(R):5'- TGAACACTGTCCCTCATGCAC -3'
|
Posted On |
2014-01-05 |