Incidental Mutation 'R5909:Adcy7'
ID |
460853 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy7
|
Ensembl Gene |
ENSMUSG00000031659 |
Gene Name |
adenylate cyclase 7 |
Synonyms |
|
MMRRC Submission |
044106-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.381)
|
Stock # |
R5909 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
88999031-89056590 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89052124 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 931
(I931F)
|
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: I931F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096122 Gene: ENSMUSG00000031659 AA Change: I931F
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: I931F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129252 Gene: ENSMUSG00000031659 AA Change: I931F
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: I931F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130594 Gene: ENSMUSG00000031659 AA Change: I931F
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: I931F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132528 Gene: ENSMUSG00000031659 AA Change: I931F
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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts8 |
T |
C |
9: 30,873,224 (GRCm39) |
S810P |
probably benign |
Het |
Alcam |
G |
T |
16: 52,111,356 (GRCm39) |
Q248K |
probably benign |
Het |
Astn1 |
A |
C |
1: 158,429,507 (GRCm39) |
R750S |
probably damaging |
Het |
Atp1a2 |
A |
T |
1: 172,114,797 (GRCm39) |
N329K |
probably damaging |
Het |
Bcl6 |
A |
G |
16: 23,791,556 (GRCm39) |
V266A |
probably benign |
Het |
Bdp1 |
A |
G |
13: 100,228,794 (GRCm39) |
V278A |
probably benign |
Het |
Ccdc162 |
T |
C |
10: 41,437,111 (GRCm39) |
E493G |
probably damaging |
Het |
Cpvl |
T |
C |
6: 53,909,413 (GRCm39) |
Y241C |
probably damaging |
Het |
Ddx55 |
T |
C |
5: 124,704,913 (GRCm39) |
M390T |
probably benign |
Het |
Ero1b |
A |
G |
13: 12,594,139 (GRCm39) |
E102G |
probably benign |
Het |
Etnk1 |
A |
G |
6: 143,143,164 (GRCm39) |
D273G |
probably benign |
Het |
Exoc3 |
A |
G |
13: 74,347,643 (GRCm39) |
V109A |
probably damaging |
Het |
F830016B08Rik |
T |
A |
18: 60,433,091 (GRCm39) |
I58N |
probably damaging |
Het |
Fancd2 |
T |
A |
6: 113,538,672 (GRCm39) |
V589E |
probably benign |
Het |
Fbll1 |
G |
A |
11: 35,689,159 (GRCm39) |
R35C |
unknown |
Het |
Fnbp1 |
A |
G |
2: 30,938,211 (GRCm39) |
|
probably null |
Het |
Glce |
G |
T |
9: 61,967,426 (GRCm39) |
A575D |
probably damaging |
Het |
Ift20 |
T |
A |
11: 78,430,867 (GRCm39) |
M70K |
possibly damaging |
Het |
Impg2 |
T |
C |
16: 56,078,499 (GRCm39) |
V487A |
probably damaging |
Het |
Isx |
A |
G |
8: 75,619,426 (GRCm39) |
D206G |
probably benign |
Het |
Jak3 |
A |
G |
8: 72,136,875 (GRCm39) |
I684V |
possibly damaging |
Het |
Kdm5d |
G |
A |
Y: 941,306 (GRCm39) |
S1169N |
probably benign |
Het |
Krt35 |
A |
T |
11: 99,986,639 (GRCm39) |
L125Q |
probably damaging |
Het |
Lama4 |
G |
A |
10: 38,948,855 (GRCm39) |
A873T |
probably benign |
Het |
Lrch4 |
T |
C |
5: 137,632,127 (GRCm39) |
S74P |
possibly damaging |
Het |
Maneal |
A |
T |
4: 124,750,966 (GRCm39) |
Y263* |
probably null |
Het |
Mcat |
C |
T |
15: 83,432,116 (GRCm39) |
A251T |
probably benign |
Het |
Mup3 |
T |
G |
4: 62,004,244 (GRCm39) |
T90P |
probably benign |
Het |
Mybpc2 |
G |
A |
7: 44,156,515 (GRCm39) |
A812V |
probably damaging |
Het |
Naa15 |
T |
C |
3: 51,367,485 (GRCm39) |
F503L |
probably damaging |
Het |
Nudt8 |
T |
C |
19: 4,050,727 (GRCm39) |
L25S |
possibly damaging |
Het |
Oas1e |
A |
T |
5: 120,926,972 (GRCm39) |
V245D |
probably damaging |
Het |
Ofcc1 |
A |
G |
13: 40,417,054 (GRCm39) |
M109T |
possibly damaging |
Het |
Or4c58 |
A |
G |
2: 89,674,735 (GRCm39) |
V194A |
possibly damaging |
Het |
Or4p18 |
A |
T |
2: 88,232,535 (GRCm39) |
F248I |
probably damaging |
Het |
Phkb |
G |
T |
8: 86,748,076 (GRCm39) |
|
probably null |
Het |
Pidd1 |
A |
C |
7: 141,021,183 (GRCm39) |
L365R |
probably damaging |
Het |
Pira12 |
G |
A |
7: 3,900,621 (GRCm39) |
T43I |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,750,795 (GRCm39) |
R1739C |
probably benign |
Het |
Pkdrej |
A |
T |
15: 85,702,497 (GRCm39) |
D1146E |
possibly damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,390,159 (GRCm39) |
W1425L |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,494,181 (GRCm39) |
L145P |
probably damaging |
Het |
Plxnd1 |
G |
T |
6: 115,945,649 (GRCm39) |
D941E |
probably benign |
Het |
Prdm13 |
G |
T |
4: 21,683,894 (GRCm39) |
Q126K |
unknown |
Het |
Rbm25 |
T |
A |
12: 83,728,362 (GRCm39) |
V837E |
probably damaging |
Het |
Rcc2 |
T |
A |
4: 140,444,379 (GRCm39) |
Y357N |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,919,884 (GRCm39) |
N882K |
probably damaging |
Het |
Sox13 |
A |
G |
1: 133,311,627 (GRCm39) |
I535T |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,040,291 (GRCm39) |
S2408P |
probably benign |
Het |
Stat3 |
G |
A |
11: 100,794,556 (GRCm39) |
T251I |
probably benign |
Het |
Sulf1 |
A |
T |
1: 12,929,039 (GRCm39) |
D102V |
possibly damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tmem145 |
G |
T |
7: 25,007,618 (GRCm39) |
L208F |
possibly damaging |
Het |
Trim17 |
A |
T |
11: 58,859,506 (GRCm39) |
E240V |
probably damaging |
Het |
Trim43b |
A |
T |
9: 88,967,451 (GRCm39) |
I395K |
possibly damaging |
Het |
Trmt61a |
C |
A |
12: 111,647,292 (GRCm39) |
H130N |
probably damaging |
Het |
Unc5b |
A |
C |
10: 60,608,138 (GRCm39) |
L654R |
probably damaging |
Het |
Vmn1r66 |
A |
T |
7: 10,008,269 (GRCm39) |
S255T |
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
Zbtb10 |
T |
C |
3: 9,345,109 (GRCm39) |
F677S |
probably benign |
Het |
Zfp493 |
T |
A |
13: 67,934,717 (GRCm39) |
C223* |
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 |
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 |
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'- ACTTGCACCCCTGGTTAGTG -3'
(R):5'- AAGGTTGCTTACTGGATAAGTAGG -3'
Sequencing Primer
(F):5'- GCACCCCTGGTTAGTGGTCTC -3'
(R):5'- AATACAGTTTCCAGCCGGTTG -3'
|
Posted On |
2017-02-28 |