Incidental Mutation 'R4991:Adcy4'
| ID |
386219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy4
|
| Ensembl Gene |
ENSMUSG00000022220 |
| Gene Name |
adenylate cyclase 4 |
| Synonyms |
|
| MMRRC Submission |
042585-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4991 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56006514-56021552 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 56010922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 665
(T665K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002398]
[ENSMUST00000057569]
[ENSMUST00000170223]
|
| AlphaFold |
Q91WF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002398
AA Change: T665K
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: T665K
| 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: ENSMUST00000057569
|
| SMART Domains |
Protein: ENSMUSP00000051368
Gene: ENSMUSG00000046908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
28 |
196 |
7.4e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
31 |
249 |
2e-8 |
PFAM |
|
Pfam:7tm_1
|
37 |
285 |
1.3e-42 |
PFAM |
|
Pfam:Serpentine_r_xa
|
54 |
201 |
2.8e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170223
AA Change: T665K
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: T665K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.0%
|
| Validation Efficiency |
95% (73/77) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
C |
T |
5: 30,404,146 (GRCm39) |
V369M |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,246,927 (GRCm39) |
K571E |
probably benign |
Het |
| Amer3 |
A |
C |
1: 34,627,822 (GRCm39) |
D687A |
probably benign |
Het |
| Asb14 |
T |
C |
14: 26,637,015 (GRCm39) |
S586P |
probably damaging |
Het |
| Catspere2 |
A |
C |
1: 177,925,987 (GRCm39) |
I218L |
probably benign |
Het |
| Chmp4b |
A |
G |
2: 154,534,545 (GRCm39) |
E187G |
probably benign |
Het |
| Cox6b2 |
T |
C |
7: 4,755,160 (GRCm39) |
D38G |
probably damaging |
Het |
| Cpm |
G |
A |
10: 117,504,008 (GRCm39) |
C138Y |
probably damaging |
Het |
| Csmd3 |
G |
T |
15: 47,864,874 (GRCm39) |
P785Q |
probably damaging |
Het |
| Cstf1 |
A |
G |
2: 172,219,720 (GRCm39) |
Y277C |
probably damaging |
Het |
| Cstf2t |
T |
A |
19: 31,061,983 (GRCm39) |
N506K |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Ebf2 |
A |
T |
14: 67,627,106 (GRCm39) |
T265S |
possibly damaging |
Het |
| Elmo1 |
T |
C |
13: 20,526,689 (GRCm39) |
F413S |
probably damaging |
Het |
| Fbp1 |
C |
T |
13: 63,012,888 (GRCm39) |
V102I |
probably benign |
Het |
| Gm19684 |
A |
G |
17: 36,438,364 (GRCm39) |
|
probably benign |
Het |
| Gm29106 |
T |
C |
1: 118,106,121 (GRCm39) |
M37T |
probably benign |
Het |
| Grem2 |
A |
G |
1: 174,664,379 (GRCm39) |
C157R |
probably damaging |
Het |
| Hdac5 |
T |
A |
11: 102,096,450 (GRCm39) |
E252D |
probably damaging |
Het |
| Ifitm3 |
A |
T |
7: 140,590,372 (GRCm39) |
F63I |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Irx4 |
G |
T |
13: 73,413,626 (GRCm39) |
R32L |
probably benign |
Het |
| Itgb1bp1 |
C |
T |
12: 21,324,849 (GRCm39) |
G69D |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,130,637 (GRCm39) |
D418G |
probably benign |
Het |
| Kif1a |
T |
C |
1: 93,006,530 (GRCm39) |
T46A |
probably benign |
Het |
| Klk1b26 |
T |
A |
7: 43,665,673 (GRCm39) |
|
probably null |
Het |
| Lca5l |
T |
C |
16: 95,960,932 (GRCm39) |
E510G |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,036,420 (GRCm39) |
I911T |
probably damaging |
Het |
| Mios |
T |
G |
6: 8,215,847 (GRCm39) |
S348A |
probably benign |
Het |
| Mog |
T |
C |
17: 37,328,381 (GRCm39) |
|
probably null |
Het |
| Mtmr7 |
A |
G |
8: 41,007,386 (GRCm39) |
S516P |
probably damaging |
Het |
| Nat8f4 |
T |
C |
6: 85,878,122 (GRCm39) |
K134E |
probably benign |
Het |
| Nbeal2 |
C |
T |
9: 110,467,835 (GRCm39) |
C451Y |
probably damaging |
Het |
| Nkx2-1 |
T |
C |
12: 56,581,724 (GRCm39) |
Y41C |
possibly damaging |
Het |
| Nmnat1 |
G |
A |
4: 149,553,584 (GRCm39) |
T176M |
possibly damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,227,244 (GRCm39) |
I293N |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,708,544 (GRCm39) |
S237P |
probably damaging |
Het |
| Or5b97 |
T |
G |
19: 12,878,815 (GRCm39) |
T110P |
probably damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,631 (GRCm39) |
M157V |
probably damaging |
Het |
| Osgin1 |
A |
G |
8: 120,172,028 (GRCm39) |
E274G |
probably damaging |
Het |
| Otof |
G |
A |
5: 30,551,525 (GRCm39) |
R343W |
probably damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,398 (GRCm39) |
I156F |
probably damaging |
Het |
| Pcsk4 |
A |
G |
10: 80,161,215 (GRCm39) |
I233T |
possibly damaging |
Het |
| Pira12 |
T |
G |
7: 3,898,571 (GRCm39) |
Q292H |
probably benign |
Het |
| Samd4 |
A |
T |
14: 47,311,467 (GRCm39) |
S262C |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,672,207 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
T |
C |
13: 59,850,965 (GRCm39) |
N388D |
probably benign |
Het |
| St3gal4 |
A |
G |
9: 34,964,432 (GRCm39) |
V190A |
possibly damaging |
Het |
| Sv2b |
T |
C |
7: 74,767,470 (GRCm39) |
N642S |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,056,810 (GRCm39) |
I561K |
probably benign |
Het |
| Tmem201 |
A |
T |
4: 149,812,612 (GRCm39) |
Y235N |
possibly damaging |
Het |
| Tpx2 |
T |
C |
2: 152,711,644 (GRCm39) |
S60P |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,980,970 (GRCm39) |
Y144C |
probably benign |
Het |
| U90926 |
G |
A |
5: 92,357,879 (GRCm39) |
P91S |
probably benign |
Het |
| Utp20 |
G |
T |
10: 88,582,796 (GRCm39) |
H2780Q |
probably benign |
Het |
| Vmn1r215 |
T |
G |
13: 23,260,697 (GRCm39) |
F246V |
probably damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,338 (GRCm39) |
L237S |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,929 (GRCm39) |
S817P |
probably damaging |
Het |
| Zbtb24 |
A |
G |
10: 41,332,614 (GRCm39) |
|
probably null |
Het |
| Zfp212 |
G |
A |
6: 47,903,796 (GRCm39) |
R127H |
probably damaging |
Het |
| Zfp268 |
C |
A |
4: 145,348,904 (GRCm39) |
Q114K |
probably benign |
Het |
| Zfp740 |
G |
T |
15: 102,116,714 (GRCm39) |
|
probably null |
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 |
|
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'- CATTGATTATTCCTGGAGGGCAG -3'
(R):5'- TAGTGACAAGCTGAAGCCC -3'
Sequencing Primer
(F):5'- TTATTCCTGGAGGGCAGGACAC -3'
(R):5'- TGAAGCCCTGGCCTTGAACTG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation