Incidental Mutation 'R4704:Adcy4'
ID |
356321 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy4
|
Ensembl Gene |
ENSMUSG00000022220 |
Gene Name |
adenylate cyclase 4 |
Synonyms |
|
MMRRC Submission |
041952-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4704 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
56006514-56021552 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56012482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 554
(S554P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002398]
[ENSMUST00000170223]
|
AlphaFold |
Q91WF3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002398
AA Change: S554P
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000002398 Gene: ENSMUSG00000022220 AA Change: S554P
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
48 |
N/A |
INTRINSIC |
low complexity region
|
66 |
80 |
N/A |
INTRINSIC |
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
CYCc
|
218 |
426 |
1.56e-62 |
SMART |
Pfam:DUF1053
|
479 |
581 |
2.4e-35 |
PFAM |
transmembrane domain
|
607 |
629 |
N/A |
INTRINSIC |
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
transmembrane domain
|
717 |
739 |
N/A |
INTRINSIC |
transmembrane domain
|
746 |
768 |
N/A |
INTRINSIC |
transmembrane domain
|
792 |
809 |
N/A |
INTRINSIC |
CYCc
|
835 |
1057 |
4.46e-40 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170223
AA Change: S554P
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130530 Gene: ENSMUSG00000022220 AA Change: S554P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
transmembrane domain
|
61 |
80 |
N/A |
INTRINSIC |
transmembrane domain
|
92 |
114 |
N/A |
INTRINSIC |
transmembrane domain
|
119 |
138 |
N/A |
INTRINSIC |
transmembrane domain
|
145 |
162 |
N/A |
INTRINSIC |
transmembrane domain
|
172 |
194 |
N/A |
INTRINSIC |
CYCc
|
218 |
426 |
1.56e-62 |
SMART |
Pfam:DUF1053
|
479 |
581 |
1.6e-24 |
PFAM |
transmembrane domain
|
607 |
629 |
N/A |
INTRINSIC |
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
transmembrane domain
|
717 |
739 |
N/A |
INTRINSIC |
transmembrane domain
|
746 |
768 |
N/A |
INTRINSIC |
transmembrane domain
|
792 |
809 |
N/A |
INTRINSIC |
CYCc
|
835 |
1057 |
4.46e-40 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226361
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226575
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228933
|
Meta Mutation Damage Score |
0.4077 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
97% (89/92) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] PHENOTYPE: Mice homozygous for disruptions of this gene display a normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
A |
T |
7: 130,959,259 (GRCm39) |
M147K |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,226,990 (GRCm39) |
D582G |
possibly damaging |
Het |
Abca2 |
T |
C |
2: 25,333,424 (GRCm39) |
L1683P |
probably damaging |
Het |
Adam39 |
A |
G |
8: 41,278,833 (GRCm39) |
H408R |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,990,545 (GRCm39) |
I3943T |
probably damaging |
Het |
Ahnak |
T |
G |
19: 8,989,622 (GRCm39) |
|
probably benign |
Het |
Alkal2 |
T |
A |
12: 30,937,195 (GRCm39) |
S109R |
probably damaging |
Het |
Apobec4 |
A |
G |
1: 152,632,001 (GRCm39) |
T10A |
probably benign |
Het |
Arhgef40 |
A |
G |
14: 52,239,767 (GRCm39) |
N1327S |
probably damaging |
Het |
Arpc3 |
A |
G |
5: 122,538,471 (GRCm39) |
M1V |
probably null |
Het |
Ascc1 |
A |
G |
10: 59,885,624 (GRCm39) |
Y225C |
probably damaging |
Het |
Ascc3 |
A |
G |
10: 50,535,110 (GRCm39) |
I668V |
probably benign |
Het |
Bdnf |
T |
A |
2: 109,554,037 (GRCm39) |
M137K |
possibly damaging |
Het |
Cacna1b |
T |
C |
2: 24,544,475 (GRCm39) |
D1231G |
probably damaging |
Het |
Cds2 |
T |
A |
2: 132,142,522 (GRCm39) |
Y239* |
probably null |
Het |
Cpped1 |
G |
A |
16: 11,703,493 (GRCm39) |
|
probably benign |
Het |
Ctu2 |
G |
A |
8: 123,206,042 (GRCm39) |
R261Q |
probably damaging |
Het |
Cux1 |
A |
G |
5: 136,278,055 (GRCm39) |
V645A |
probably benign |
Het |
Cyp4f13 |
A |
G |
17: 33,144,709 (GRCm39) |
C401R |
probably damaging |
Het |
Dpt |
T |
G |
1: 164,646,518 (GRCm39) |
Y162* |
probably null |
Het |
Ednra |
A |
G |
8: 78,394,592 (GRCm39) |
|
probably benign |
Het |
Eepd1 |
A |
G |
9: 25,394,122 (GRCm39) |
T129A |
probably benign |
Het |
Eif2s1 |
A |
G |
12: 78,923,944 (GRCm39) |
T134A |
probably benign |
Het |
Eloa |
A |
G |
4: 135,738,525 (GRCm39) |
V145A |
probably benign |
Het |
Enam |
T |
A |
5: 88,651,650 (GRCm39) |
L1053* |
probably null |
Het |
Eng |
T |
C |
2: 32,568,924 (GRCm39) |
S484P |
probably benign |
Het |
Eogt |
A |
T |
6: 97,090,813 (GRCm39) |
V442E |
probably damaging |
Het |
Fam185a |
C |
T |
5: 21,685,471 (GRCm39) |
|
probably benign |
Het |
Gm4922 |
C |
T |
10: 18,660,567 (GRCm39) |
V52I |
probably benign |
Het |
Gnao1 |
A |
G |
8: 94,538,004 (GRCm39) |
E14G |
probably benign |
Het |
Gpr75 |
C |
A |
11: 30,841,110 (GRCm39) |
A5D |
probably benign |
Het |
Hbq1b |
T |
A |
11: 32,237,448 (GRCm39) |
|
probably benign |
Het |
Hdac7 |
G |
A |
15: 97,694,097 (GRCm39) |
T724M |
probably damaging |
Het |
Ifi204 |
C |
A |
1: 173,587,927 (GRCm39) |
|
probably benign |
Het |
Ift88 |
A |
G |
14: 57,718,307 (GRCm39) |
|
probably benign |
Het |
Irak4 |
A |
G |
15: 94,464,781 (GRCm39) |
|
probably null |
Het |
Kalrn |
T |
C |
16: 34,024,327 (GRCm39) |
D610G |
probably damaging |
Het |
Kifc2 |
T |
C |
15: 76,547,177 (GRCm39) |
|
probably null |
Het |
Kmt2c |
G |
A |
5: 25,519,025 (GRCm39) |
Q2362* |
probably null |
Het |
Kntc1 |
G |
A |
5: 123,949,496 (GRCm39) |
E1956K |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,686,280 (GRCm39) |
V2781A |
probably benign |
Het |
Lipt2 |
A |
G |
7: 99,809,534 (GRCm39) |
E207G |
probably damaging |
Het |
Mag |
A |
T |
7: 30,608,598 (GRCm39) |
L172Q |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,566,983 (GRCm39) |
C1913S |
unknown |
Het |
Mical3 |
A |
G |
6: 120,935,649 (GRCm39) |
S1626P |
probably benign |
Het |
Mslnl |
G |
T |
17: 25,957,952 (GRCm39) |
W65L |
possibly damaging |
Het |
Muc20 |
G |
T |
16: 32,599,448 (GRCm39) |
A3332S |
possibly damaging |
Het |
Nadk |
C |
A |
4: 155,669,684 (GRCm39) |
P157T |
probably benign |
Het |
Nkx2-3 |
G |
A |
19: 43,601,123 (GRCm39) |
E62K |
probably damaging |
Het |
Or6c2 |
T |
C |
10: 129,362,171 (GRCm39) |
L25P |
possibly damaging |
Het |
Pclo |
A |
G |
5: 14,726,494 (GRCm39) |
|
probably benign |
Het |
Pcna-ps2 |
T |
A |
19: 9,260,786 (GRCm39) |
V15E |
possibly damaging |
Het |
Plekhg3 |
G |
T |
12: 76,625,012 (GRCm39) |
G1285W |
probably damaging |
Het |
Pramel29 |
A |
T |
4: 143,935,162 (GRCm39) |
I193N |
probably damaging |
Het |
Procr |
A |
G |
2: 155,596,258 (GRCm39) |
S142G |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,270,119 (GRCm39) |
N14K |
possibly damaging |
Het |
Rin1 |
C |
A |
19: 5,105,018 (GRCm39) |
L693I |
probably damaging |
Het |
Ripk4 |
C |
A |
16: 97,547,204 (GRCm39) |
E290* |
probably null |
Het |
Rnf213 |
A |
G |
11: 119,331,175 (GRCm39) |
Y2128C |
probably damaging |
Het |
Saal1 |
T |
C |
7: 46,349,164 (GRCm39) |
|
probably benign |
Het |
Selplg |
T |
C |
5: 113,957,094 (GRCm39) |
D404G |
probably benign |
Het |
Serpinf1 |
C |
A |
11: 75,301,867 (GRCm39) |
A263S |
probably damaging |
Het |
Sgo2b |
A |
T |
8: 64,380,824 (GRCm39) |
D669E |
probably damaging |
Het |
Slc30a9 |
T |
C |
5: 67,499,616 (GRCm39) |
|
probably benign |
Het |
Sri |
A |
T |
5: 8,112,430 (GRCm39) |
|
probably null |
Het |
Sspo |
G |
A |
6: 48,475,638 (GRCm39) |
C4918Y |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,251,026 (GRCm39) |
Y361H |
probably damaging |
Het |
Tbc1d12 |
T |
A |
19: 38,889,781 (GRCm39) |
W404R |
probably damaging |
Het |
Tcf20 |
T |
C |
15: 82,735,928 (GRCm39) |
E1841G |
possibly damaging |
Het |
Tep1 |
T |
C |
14: 51,074,530 (GRCm39) |
T1832A |
probably benign |
Het |
Tmem132e |
G |
A |
11: 82,334,357 (GRCm39) |
A623T |
probably damaging |
Het |
Tmem201 |
A |
T |
4: 149,811,774 (GRCm39) |
F357Y |
possibly damaging |
Het |
Trappc13 |
T |
G |
13: 104,303,329 (GRCm39) |
|
probably benign |
Het |
Trav6-5 |
C |
T |
14: 53,728,883 (GRCm39) |
Q47* |
probably null |
Het |
Ubxn1 |
T |
A |
19: 8,849,399 (GRCm39) |
D47E |
probably benign |
Het |
Vmn2r45 |
G |
T |
7: 8,486,535 (GRCm39) |
S251* |
probably null |
Het |
Wnk1 |
A |
G |
6: 119,942,705 (GRCm39) |
L774S |
possibly damaging |
Het |
Zfp189 |
T |
C |
4: 49,530,081 (GRCm39) |
S395P |
probably damaging |
Het |
|
Other mutations in Adcy4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00917:Adcy4
|
APN |
14 |
56,011,120 (GRCm39) |
splice site |
probably null |
|
IGL02406:Adcy4
|
APN |
14 |
56,007,504 (GRCm39) |
missense |
possibly damaging |
0.45 |
IGL02503:Adcy4
|
APN |
14 |
56,008,962 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02543:Adcy4
|
APN |
14 |
56,006,627 (GRCm39) |
missense |
probably benign |
|
IGL02616:Adcy4
|
APN |
14 |
56,020,971 (GRCm39) |
splice site |
probably null |
|
IGL03002:Adcy4
|
APN |
14 |
56,011,013 (GRCm39) |
missense |
probably benign |
0.31 |
IGL03026:Adcy4
|
APN |
14 |
56,015,467 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03190:Adcy4
|
APN |
14 |
56,016,510 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03247:Adcy4
|
APN |
14 |
56,007,553 (GRCm39) |
missense |
probably damaging |
1.00 |
stressed
|
UTSW |
14 |
56,016,556 (GRCm39) |
splice site |
probably null |
|
IGL03098:Adcy4
|
UTSW |
14 |
56,019,038 (GRCm39) |
missense |
probably null |
0.82 |
R0098:Adcy4
|
UTSW |
14 |
56,007,284 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0102:Adcy4
|
UTSW |
14 |
56,008,990 (GRCm39) |
missense |
probably benign |
0.29 |
R0396:Adcy4
|
UTSW |
14 |
56,009,745 (GRCm39) |
missense |
probably benign |
0.00 |
R0482:Adcy4
|
UTSW |
14 |
56,012,029 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0634:Adcy4
|
UTSW |
14 |
56,019,054 (GRCm39) |
missense |
probably benign |
|
R0691:Adcy4
|
UTSW |
14 |
56,010,104 (GRCm39) |
splice site |
probably benign |
|
R0704:Adcy4
|
UTSW |
14 |
56,010,213 (GRCm39) |
missense |
probably benign |
|
R0815:Adcy4
|
UTSW |
14 |
56,021,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R0863:Adcy4
|
UTSW |
14 |
56,021,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R1446:Adcy4
|
UTSW |
14 |
56,007,480 (GRCm39) |
critical splice donor site |
probably null |
|
R1462:Adcy4
|
UTSW |
14 |
56,015,765 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1462:Adcy4
|
UTSW |
14 |
56,015,765 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1463:Adcy4
|
UTSW |
14 |
56,016,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R1624:Adcy4
|
UTSW |
14 |
56,019,384 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1799:Adcy4
|
UTSW |
14 |
56,008,929 (GRCm39) |
missense |
probably benign |
0.01 |
R1878:Adcy4
|
UTSW |
14 |
56,007,362 (GRCm39) |
missense |
probably damaging |
0.96 |
R2007:Adcy4
|
UTSW |
14 |
56,015,770 (GRCm39) |
missense |
possibly damaging |
0.45 |
R2156:Adcy4
|
UTSW |
14 |
56,006,627 (GRCm39) |
missense |
probably benign |
0.09 |
R2425:Adcy4
|
UTSW |
14 |
56,015,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R2517:Adcy4
|
UTSW |
14 |
56,019,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R3882:Adcy4
|
UTSW |
14 |
56,012,003 (GRCm39) |
missense |
probably benign |
0.27 |
R4021:Adcy4
|
UTSW |
14 |
56,012,635 (GRCm39) |
splice site |
probably null |
|
R4022:Adcy4
|
UTSW |
14 |
56,012,635 (GRCm39) |
splice site |
probably null |
|
R4411:Adcy4
|
UTSW |
14 |
56,006,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R4530:Adcy4
|
UTSW |
14 |
56,016,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R4560:Adcy4
|
UTSW |
14 |
56,016,407 (GRCm39) |
splice site |
probably null |
|
R4780:Adcy4
|
UTSW |
14 |
56,012,493 (GRCm39) |
missense |
probably benign |
0.07 |
R4860:Adcy4
|
UTSW |
14 |
56,019,384 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4860:Adcy4
|
UTSW |
14 |
56,019,384 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4868:Adcy4
|
UTSW |
14 |
56,011,179 (GRCm39) |
missense |
probably benign |
|
R4890:Adcy4
|
UTSW |
14 |
56,016,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R4920:Adcy4
|
UTSW |
14 |
56,016,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R4948:Adcy4
|
UTSW |
14 |
56,016,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R4952:Adcy4
|
UTSW |
14 |
56,016,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R4953:Adcy4
|
UTSW |
14 |
56,016,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R4987:Adcy4
|
UTSW |
14 |
56,010,934 (GRCm39) |
missense |
probably benign |
0.01 |
R4991:Adcy4
|
UTSW |
14 |
56,010,922 (GRCm39) |
missense |
probably benign |
0.03 |
R5080:Adcy4
|
UTSW |
14 |
56,009,832 (GRCm39) |
missense |
probably damaging |
0.98 |
R5620:Adcy4
|
UTSW |
14 |
56,009,824 (GRCm39) |
nonsense |
probably null |
|
R5652:Adcy4
|
UTSW |
14 |
56,010,900 (GRCm39) |
missense |
probably benign |
|
R5726:Adcy4
|
UTSW |
14 |
56,021,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R5910:Adcy4
|
UTSW |
14 |
56,016,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R5958:Adcy4
|
UTSW |
14 |
56,016,556 (GRCm39) |
splice site |
probably null |
|
R6280:Adcy4
|
UTSW |
14 |
56,016,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R6318:Adcy4
|
UTSW |
14 |
56,006,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R6598:Adcy4
|
UTSW |
14 |
56,007,502 (GRCm39) |
missense |
probably benign |
0.03 |
R6947:Adcy4
|
UTSW |
14 |
56,015,848 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7012:Adcy4
|
UTSW |
14 |
56,017,376 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7147:Adcy4
|
UTSW |
14 |
56,017,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R7386:Adcy4
|
UTSW |
14 |
56,015,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R7414:Adcy4
|
UTSW |
14 |
56,019,090 (GRCm39) |
missense |
probably benign |
0.15 |
R7431:Adcy4
|
UTSW |
14 |
56,010,129 (GRCm39) |
missense |
probably benign |
0.01 |
R7490:Adcy4
|
UTSW |
14 |
56,007,890 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7552:Adcy4
|
UTSW |
14 |
56,010,922 (GRCm39) |
missense |
probably benign |
0.00 |
R7672:Adcy4
|
UTSW |
14 |
56,018,362 (GRCm39) |
missense |
probably benign |
0.14 |
R8003:Adcy4
|
UTSW |
14 |
56,019,092 (GRCm39) |
missense |
probably benign |
0.00 |
R8042:Adcy4
|
UTSW |
14 |
56,012,696 (GRCm39) |
missense |
probably benign |
0.01 |
R8100:Adcy4
|
UTSW |
14 |
56,009,722 (GRCm39) |
nonsense |
probably null |
|
R8343:Adcy4
|
UTSW |
14 |
56,012,697 (GRCm39) |
missense |
probably benign |
0.02 |
R8801:Adcy4
|
UTSW |
14 |
56,009,452 (GRCm39) |
missense |
probably benign |
0.05 |
R8811:Adcy4
|
UTSW |
14 |
56,010,221 (GRCm39) |
missense |
probably benign |
|
R8993:Adcy4
|
UTSW |
14 |
56,016,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R8993:Adcy4
|
UTSW |
14 |
56,008,835 (GRCm39) |
missense |
probably null |
1.00 |
R9026:Adcy4
|
UTSW |
14 |
56,016,426 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Adcy4
|
UTSW |
14 |
56,007,848 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Adcy4
|
UTSW |
14 |
56,018,413 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- CACGACTTTCCTGCAAGAGG -3'
(R):5'- TTCCAGGTCATCGAACAACTC -3'
Sequencing Primer
(F):5'- GGCACAATCCCCTCATCCTAGG -3'
(R):5'- ACTCTCAGAAGTATGAAAGCCAG -3'
|
Posted On |
2015-10-21 |