Incidental Mutation 'R7386:Adcy4'
| ID |
573120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy4
|
| Ensembl Gene |
ENSMUSG00000022220 |
| Gene Name |
adenylate cyclase 4 |
| Synonyms |
|
| MMRRC Submission |
045468-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56006514-56021552 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56015784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 435
(Y435C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002398]
[ENSMUST00000170223]
|
| AlphaFold |
Q91WF3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002398
AA Change: Y435C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: Y435C
| 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 damaging
Transcript: ENSMUST00000170223
AA Change: Y435C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: Y435C
| 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 |
|
| Meta Mutation Damage Score |
0.6059 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (66/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
T |
18: 69,083,208 (GRCm39) |
M2K |
unknown |
Het |
| Ablim3 |
T |
C |
18: 61,955,065 (GRCm39) |
D308G |
probably damaging |
Het |
| Adamts17 |
A |
T |
7: 66,618,597 (GRCm39) |
K370N |
probably benign |
Het |
| Adgb |
A |
T |
10: 10,253,693 (GRCm39) |
F1216I |
possibly damaging |
Het |
| Akr1a1 |
G |
A |
4: 116,498,251 (GRCm39) |
T98I |
probably damaging |
Het |
| Alyref2 |
G |
T |
1: 171,331,101 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,658,079 (GRCm39) |
H168Q |
unknown |
Het |
| Bnc1 |
A |
C |
7: 81,624,240 (GRCm39) |
L329R |
possibly damaging |
Het |
| Btaf1 |
G |
A |
19: 36,935,782 (GRCm39) |
A191T |
probably benign |
Het |
| Carmil3 |
T |
G |
14: 55,735,204 (GRCm39) |
|
probably null |
Het |
| Cd200r1 |
C |
A |
16: 44,610,211 (GRCm39) |
D143E |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,699,507 (GRCm39) |
H98R |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,205,831 (GRCm39) |
Q3346L |
probably damaging |
Het |
| Cpne4 |
T |
A |
9: 104,749,939 (GRCm39) |
V81E |
possibly damaging |
Het |
| Ctnnd2 |
T |
A |
15: 30,966,914 (GRCm39) |
M955K |
probably damaging |
Het |
| Ctsj |
A |
T |
13: 61,148,373 (GRCm39) |
M307K |
possibly damaging |
Het |
| Ddhd2 |
G |
T |
8: 26,244,318 (GRCm39) |
R103S |
possibly damaging |
Het |
| Depdc5 |
A |
G |
5: 33,085,280 (GRCm39) |
T700A |
probably benign |
Het |
| Dhx57 |
A |
C |
17: 80,575,006 (GRCm39) |
D657E |
possibly damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,713,965 (GRCm39) |
G1678S |
unknown |
Het |
| Dnajb1 |
A |
G |
8: 84,336,932 (GRCm39) |
D234G |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,174,983 (GRCm39) |
V431M |
possibly damaging |
Het |
| Evi5 |
C |
A |
5: 107,957,689 (GRCm39) |
|
probably null |
Het |
| Exoc2 |
T |
C |
13: 31,090,646 (GRCm39) |
|
probably null |
Het |
| Foxo3 |
T |
C |
10: 42,073,356 (GRCm39) |
D387G |
probably benign |
Het |
| Gda |
A |
G |
19: 21,387,250 (GRCm39) |
I325T |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,375,790 (GRCm39) |
S1362P |
probably damaging |
Het |
| Klf10 |
G |
T |
15: 38,297,193 (GRCm39) |
N282K |
possibly damaging |
Het |
| Mettl13 |
A |
G |
1: 162,375,723 (GRCm39) |
Y35H |
probably damaging |
Het |
| Mill2 |
A |
G |
7: 18,592,215 (GRCm39) |
T279A |
probably benign |
Het |
| Ncaph2 |
G |
A |
15: 89,254,459 (GRCm39) |
W386* |
probably null |
Het |
| Nploc4 |
A |
T |
11: 120,299,707 (GRCm39) |
S338T |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,090,775 (GRCm39) |
S261G |
probably damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,227 (GRCm39) |
F183S |
possibly damaging |
Het |
| Or5al1 |
A |
G |
2: 85,989,874 (GRCm39) |
V280A |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,677 (GRCm39) |
M1K |
probably null |
Het |
| Palld |
A |
G |
8: 61,985,086 (GRCm39) |
F1060L |
unknown |
Het |
| Pfas |
C |
G |
11: 68,894,600 (GRCm39) |
V22L |
probably benign |
Het |
| Pygo2 |
T |
G |
3: 89,340,128 (GRCm39) |
F175L |
probably benign |
Het |
| Rnf2 |
T |
C |
1: 151,347,131 (GRCm39) |
E316G |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,657,772 (GRCm39) |
M642K |
probably damaging |
Het |
| Saa3 |
A |
G |
7: 46,364,347 (GRCm39) |
C60R |
unknown |
Het |
| Saxo5 |
A |
G |
8: 3,537,079 (GRCm39) |
K475R |
probably benign |
Het |
| Scap |
A |
G |
9: 110,202,237 (GRCm39) |
T202A |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,370,894 (GRCm39) |
D562V |
probably damaging |
Het |
| Slc6a19 |
A |
T |
13: 73,838,010 (GRCm39) |
V163E |
possibly damaging |
Het |
| Smc5 |
G |
A |
19: 23,192,539 (GRCm39) |
H850Y |
possibly damaging |
Het |
| Spef1l |
A |
T |
7: 139,555,965 (GRCm39) |
C225* |
probably null |
Het |
| Sqle |
G |
A |
15: 59,202,603 (GRCm39) |
R519Q |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,908,585 (GRCm39) |
Y533H |
probably benign |
Het |
| Thbs2 |
A |
G |
17: 14,893,412 (GRCm39) |
S923P |
possibly damaging |
Het |
| Themis |
A |
G |
10: 28,665,743 (GRCm39) |
D602G |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,640,990 (GRCm39) |
K1054E |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,612,780 (GRCm39) |
C313S |
probably benign |
Het |
| Top6bl |
G |
A |
19: 4,713,586 (GRCm39) |
R285* |
probably null |
Het |
| Tpm1 |
T |
C |
9: 66,935,449 (GRCm39) |
I284M |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,964,064 (GRCm39) |
L722H |
possibly damaging |
Het |
| Trub2 |
T |
G |
2: 29,676,607 (GRCm39) |
Q41P |
probably benign |
Het |
| Usp17le |
A |
C |
7: 104,417,514 (GRCm39) |
|
probably null |
Het |
| Zfp398 |
G |
A |
6: 47,835,884 (GRCm39) |
V148I |
probably benign |
Het |
| Zfp40 |
T |
C |
17: 23,395,981 (GRCm39) |
E202G |
probably damaging |
Het |
| Zfp618 |
T |
A |
4: 63,013,622 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
T |
A |
7: 6,308,949 (GRCm39) |
I539N |
possibly damaging |
Het |
| Zfp738 |
A |
T |
13: 67,818,369 (GRCm39) |
C541S |
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 |
|
|
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 |
|
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'- TCAGCCTGGGACATGAGAAG -3'
(R):5'- GGACACAGCTCTGGGAATAG -3'
Sequencing Primer
(F):5'- CTGAGTCAAAAGGAGATATTTCCCC -3'
(R):5'- ACACAGCTCTGGGAATAGTTTTTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation