Incidental Mutation 'R8421:Adcy7'
| ID |
653203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy7
|
| Ensembl Gene |
ENSMUSG00000031659 |
| Gene Name |
adenylate cyclase 7 |
| Synonyms |
|
| MMRRC Submission |
067898-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.381)
|
| Stock # |
R8421 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
88999031-89056590 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89048812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 676
(T676A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098521]
[ENSMUST00000168545]
[ENSMUST00000169037]
[ENSMUST00000171456]
|
| AlphaFold |
P51829 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098521
AA Change: T676A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: T676A
| 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: T676A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: T676A
| 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: T676A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: T676A
| 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: T676A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: T676A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,880,486 (GRCm39) |
E1239G |
unknown |
Het |
| Actn3 |
T |
C |
19: 4,911,741 (GRCm39) |
M806V |
probably benign |
Het |
| Ankef1 |
C |
A |
2: 136,379,085 (GRCm39) |
Q12K |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 79,985,384 (GRCm39) |
V157D |
probably damaging |
Het |
| Atp6v1b1 |
T |
A |
6: 83,730,791 (GRCm39) |
M163K |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,518,487 (GRCm39) |
M117K |
probably benign |
Het |
| Ccdc87 |
T |
C |
19: 4,891,313 (GRCm39) |
Y602H |
possibly damaging |
Het |
| Cdh16 |
C |
T |
8: 105,348,602 (GRCm39) |
R142K |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,886,718 (GRCm39) |
V431I |
probably damaging |
Het |
| Csf1r |
A |
G |
18: 61,260,966 (GRCm39) |
D719G |
probably damaging |
Het |
| Ctsll3 |
A |
G |
13: 60,948,595 (GRCm39) |
F88S |
probably damaging |
Het |
| Dglucy |
A |
G |
12: 100,808,938 (GRCm39) |
Y212C |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,968,122 (GRCm38) |
D261G |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,102,477 (GRCm39) |
D2641G |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,909,480 (GRCm39) |
V2174D |
probably damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,298,142 (GRCm39) |
L244P |
probably damaging |
Het |
| Hcn4 |
T |
A |
9: 58,765,379 (GRCm39) |
D620E |
unknown |
Het |
| Ide |
A |
G |
19: 37,255,403 (GRCm39) |
V800A |
|
Het |
| Ikbkb |
A |
T |
8: 23,168,804 (GRCm39) |
|
probably null |
Het |
| Lin9 |
T |
A |
1: 180,493,365 (GRCm39) |
F197Y |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,615,435 (GRCm39) |
Y3656F |
|
Het |
| Mapkbp1 |
C |
A |
2: 119,849,431 (GRCm39) |
N708K |
probably damaging |
Het |
| Marveld3 |
A |
G |
8: 110,675,279 (GRCm39) |
M179T |
probably benign |
Het |
| Mrpl1 |
C |
G |
5: 96,374,226 (GRCm39) |
A167G |
probably benign |
Het |
| Mrpl35 |
T |
C |
6: 71,793,151 (GRCm39) |
K167E |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,366,935 (GRCm39) |
V594A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,102,269 (GRCm39) |
T356A |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,111,174 (GRCm39) |
Y1692C |
probably damaging |
Het |
| Or8k22 |
T |
A |
2: 86,163,247 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Otoa |
G |
A |
7: 120,698,491 (GRCm39) |
|
probably null |
Het |
| Oxnad1 |
T |
G |
14: 31,821,431 (GRCm39) |
I172S |
probably benign |
Het |
| Padi4 |
C |
A |
4: 140,475,533 (GRCm39) |
C544F |
probably damaging |
Het |
| Pard3 |
A |
C |
8: 127,867,158 (GRCm39) |
|
probably benign |
Het |
| Plvap |
G |
A |
8: 71,964,176 (GRCm39) |
T62M |
probably damaging |
Het |
| Potefam1 |
T |
A |
2: 111,048,955 (GRCm39) |
K275* |
probably null |
Het |
| Prdm8 |
C |
T |
5: 98,333,822 (GRCm39) |
A463V |
probably damaging |
Het |
| Prss21 |
T |
A |
17: 24,088,342 (GRCm39) |
D102E |
possibly damaging |
Het |
| Psmb10 |
G |
T |
8: 106,663,342 (GRCm39) |
Q182K |
probably benign |
Het |
| Rasgrf1 |
C |
T |
9: 89,849,968 (GRCm39) |
P319S |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,072,863 (GRCm39) |
Q1161* |
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,826,929 (GRCm39) |
E112G |
probably benign |
Het |
| Samm50 |
A |
G |
15: 84,094,786 (GRCm39) |
T393A |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,413,734 (GRCm39) |
E954G |
probably damaging |
Het |
| Sulf2 |
T |
A |
2: 165,958,972 (GRCm39) |
I79F |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,561 (GRCm39) |
K135E |
probably benign |
Het |
| Ube2q2l |
T |
C |
6: 136,378,350 (GRCm39) |
E160G |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,178,304 (GRCm39) |
E3044G |
unknown |
Het |
| Usf3 |
A |
T |
16: 44,037,572 (GRCm39) |
Q684L |
possibly damaging |
Het |
| Vmn1r114 |
A |
T |
7: 20,545,459 (GRCm39) |
M218K |
possibly damaging |
Het |
| Vmn1r203 |
T |
G |
13: 22,709,154 (GRCm39) |
*312G |
probably null |
Het |
| Vmn2r67 |
A |
C |
7: 84,785,893 (GRCm39) |
L704R |
probably damaging |
Het |
| Zfp618 |
A |
G |
4: 63,051,483 (GRCm39) |
T755A |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 136,017,331 (GRCm39) |
T381A |
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,479,620 (GRCm39) |
D957G |
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 |
|
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 |
|
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'- TGCTGTCTCACCTTCAGGATAAC -3'
(R):5'- CAGATGGAGCTGTTCAGGTAAC -3'
Sequencing Primer
(F):5'- ATAACTGAGTCCCTGCAGGCTG -3'
(R):5'- TTCAGGTAACAAGACTGGGATTCTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation