Incidental Mutation 'R2517:Adcy4'
ID |
253978 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy4
|
Ensembl Gene |
ENSMUSG00000022220 |
Gene Name |
adenylate cyclase 4 |
Synonyms |
|
MMRRC Submission |
040421-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2517 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
56006514-56021552 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 56019403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 82
(E82D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002398]
[ENSMUST00000022830]
[ENSMUST00000168716]
[ENSMUST00000170223]
[ENSMUST00000178399]
[ENSMUST00000227031]
[ENSMUST00000228476]
|
AlphaFold |
Q91WF3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002398
AA Change: E82D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002398 Gene: ENSMUSG00000022220 AA Change: E82D
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 |
probably benign
Transcript: ENSMUST00000022830
|
SMART Domains |
Protein: ENSMUSP00000022830 Gene: ENSMUSG00000022221
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
22 |
288 |
2.8e-38 |
PFAM |
Pfam:Pkinase_Tyr
|
22 |
288 |
3e-34 |
PFAM |
Pfam:RHIM
|
408 |
458 |
2.4e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168716
|
SMART Domains |
Protein: ENSMUSP00000126306 Gene: ENSMUSG00000022221
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
1 |
223 |
1.2e-30 |
PFAM |
Pfam:Pkinase_Tyr
|
1 |
224 |
3.1e-27 |
PFAM |
Pfam:RHIM
|
344 |
395 |
2.4e-14 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170223
AA Change: E82D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130530 Gene: ENSMUSG00000022220 AA Change: E82D
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 |
probably benign
Transcript: ENSMUST00000178399
|
SMART Domains |
Protein: ENSMUSP00000137278 Gene: ENSMUSG00000022221
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
1 |
223 |
1.2e-30 |
PFAM |
Pfam:Pkinase_Tyr
|
1 |
224 |
3.1e-27 |
PFAM |
Pfam:RHIM
|
344 |
395 |
2.4e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226361
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227031
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227072
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228077
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228476
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228175
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago1 |
G |
A |
4: 126,333,732 (GRCm39) |
R486* |
probably null |
Het |
Ago2 |
T |
A |
15: 72,996,091 (GRCm39) |
N346I |
possibly damaging |
Het |
Apol11a |
A |
T |
15: 77,401,395 (GRCm39) |
D294V |
probably benign |
Het |
Atp13a5 |
A |
G |
16: 29,116,215 (GRCm39) |
F634L |
possibly damaging |
Het |
Atp2a2 |
G |
A |
5: 122,595,576 (GRCm39) |
P953L |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,463,137 (GRCm39) |
D967G |
probably benign |
Het |
Bud13 |
A |
T |
9: 46,199,446 (GRCm39) |
H269L |
probably benign |
Het |
Cachd1 |
A |
T |
4: 100,838,079 (GRCm39) |
|
probably null |
Het |
Cog3 |
T |
C |
14: 75,979,182 (GRCm39) |
D188G |
probably benign |
Het |
Col15a1 |
T |
C |
4: 47,208,492 (GRCm39) |
S20P |
probably damaging |
Het |
Col4a3 |
A |
G |
1: 82,658,431 (GRCm39) |
D838G |
unknown |
Het |
Cwh43 |
A |
T |
5: 73,578,886 (GRCm39) |
T298S |
probably benign |
Het |
Dip2c |
A |
G |
13: 9,659,041 (GRCm39) |
R847G |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,407,470 (GRCm39) |
D438N |
probably damaging |
Het |
Drg2 |
T |
C |
11: 60,358,954 (GRCm39) |
V358A |
probably damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,171,168 (GRCm39) |
W220R |
probably damaging |
Het |
Enpp2 |
A |
T |
15: 54,783,090 (GRCm39) |
I75K |
probably damaging |
Het |
Fam110c |
T |
C |
12: 31,125,238 (GRCm39) |
I400T |
probably damaging |
Het |
Fam193b |
C |
A |
13: 55,690,629 (GRCm39) |
R711L |
probably damaging |
Het |
Fgfr1 |
T |
C |
8: 26,053,462 (GRCm39) |
Y246H |
probably damaging |
Het |
Frs3 |
G |
A |
17: 48,013,997 (GRCm39) |
R230Q |
probably benign |
Het |
Galnt5 |
A |
G |
2: 57,889,425 (GRCm39) |
K342E |
probably benign |
Het |
Glrb |
A |
T |
3: 80,769,054 (GRCm39) |
L189Q |
probably damaging |
Het |
Gmeb2 |
T |
C |
2: 180,900,819 (GRCm39) |
T193A |
probably benign |
Het |
Gnl3 |
A |
G |
14: 30,736,120 (GRCm39) |
S307P |
probably damaging |
Het |
Golim4 |
A |
T |
3: 75,800,166 (GRCm39) |
F443I |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Klf10 |
A |
C |
15: 38,297,357 (GRCm39) |
Y228D |
probably benign |
Het |
Klrc3 |
A |
T |
6: 129,616,520 (GRCm39) |
W166R |
probably damaging |
Het |
Kng2 |
A |
T |
16: 22,807,065 (GRCm39) |
I378N |
probably benign |
Het |
Map3k10 |
T |
C |
7: 27,362,688 (GRCm39) |
K466R |
possibly damaging |
Het |
Mrrf |
C |
T |
2: 36,079,109 (GRCm39) |
T245M |
probably benign |
Het |
Msi1 |
A |
G |
5: 115,583,517 (GRCm39) |
Y239C |
probably damaging |
Het |
Nfasc |
A |
G |
1: 132,525,501 (GRCm39) |
|
probably null |
Het |
Or1x6 |
T |
A |
11: 50,939,300 (GRCm39) |
L122Q |
probably damaging |
Het |
Or7g25 |
A |
T |
9: 19,160,357 (GRCm39) |
C113S |
probably benign |
Het |
P3r3urf |
A |
G |
4: 116,030,791 (GRCm39) |
D65G |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,908,900 (GRCm39) |
E368G |
unknown |
Het |
Polq |
G |
A |
16: 36,909,687 (GRCm39) |
G2078D |
probably damaging |
Het |
Ppfibp1 |
A |
C |
6: 146,893,942 (GRCm39) |
I134L |
probably damaging |
Het |
Rasip1 |
A |
T |
7: 45,284,247 (GRCm39) |
I608F |
probably damaging |
Het |
Ripk3 |
A |
T |
14: 56,025,492 (GRCm39) |
V24E |
probably damaging |
Het |
Rtkn |
T |
A |
6: 83,124,526 (GRCm39) |
I110N |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,104,176 (GRCm39) |
V1695I |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,606,042 (GRCm39) |
N75S |
possibly damaging |
Het |
Snu13 |
C |
A |
15: 81,928,182 (GRCm39) |
A14S |
probably benign |
Het |
Snx27 |
A |
C |
3: 94,438,541 (GRCm39) |
D231E |
probably damaging |
Het |
Spef2 |
A |
G |
15: 9,725,283 (GRCm39) |
I158T |
possibly damaging |
Het |
Sptb |
A |
G |
12: 76,696,643 (GRCm39) |
I19T |
possibly damaging |
Het |
Ssu72 |
T |
C |
4: 155,817,970 (GRCm39) |
L175P |
probably damaging |
Het |
Tcstv2a |
T |
A |
13: 120,725,475 (GRCm39) |
C46* |
probably null |
Het |
Tecr |
C |
T |
8: 84,299,204 (GRCm39) |
V248I |
probably benign |
Het |
Tnfrsf13b |
T |
G |
11: 61,032,302 (GRCm39) |
S59A |
probably benign |
Het |
Tom1l1 |
T |
C |
11: 90,561,951 (GRCm39) |
T150A |
possibly damaging |
Het |
Ubr3 |
A |
T |
2: 69,766,362 (GRCm39) |
Y410F |
probably damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,692,577 (GRCm39) |
I93T |
probably damaging |
Het |
Vmn2r19 |
A |
G |
6: 123,306,937 (GRCm39) |
T482A |
probably benign |
Het |
Vstm4 |
T |
A |
14: 32,585,664 (GRCm39) |
M77K |
probably benign |
Het |
Zbtb17 |
C |
T |
4: 141,191,896 (GRCm39) |
T309I |
probably damaging |
Het |
Zfp957 |
T |
C |
14: 79,451,494 (GRCm39) |
T102A |
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 |
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 |
|
R4704:Adcy4
|
UTSW |
14 |
56,012,482 (GRCm39) |
missense |
possibly damaging |
0.91 |
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'- TGGCGTACACGGTGAAGATG -3'
(R):5'- AGGACACCTAACTTGCTCTTTC -3'
Sequencing Primer
(F):5'- AGCTGAATGCCCGTGATG -3'
(R):5'- AACTTGCTCTTTCTCACCTTGAG -3'
|
Posted On |
2014-12-04 |