Incidental Mutation 'R7431:Adcy4'
ID |
576496 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy4
|
Ensembl Gene |
ENSMUSG00000022220 |
Gene Name |
adenylate cyclase 4 |
Synonyms |
|
MMRRC Submission |
045509-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7431 (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 56010129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 718
(I718V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002398]
[ENSMUST00000057569]
[ENSMUST00000170223]
|
AlphaFold |
Q91WF3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002398
AA Change: I718V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000002398 Gene: ENSMUSG00000022220 AA Change: I718V
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: I718V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000130530 Gene: ENSMUSG00000022220 AA Change: I718V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
97% (77/79) |
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 |
Abca9 |
CA |
C |
11: 110,018,252 (GRCm39) |
|
probably null |
Het |
Abcf3 |
G |
T |
16: 20,377,539 (GRCm39) |
R510L |
probably benign |
Het |
Abcg4 |
T |
A |
9: 44,185,997 (GRCm39) |
I625F |
possibly damaging |
Het |
Adam22 |
A |
T |
5: 8,142,818 (GRCm39) |
S806T |
probably damaging |
Het |
Adgb |
A |
T |
10: 10,267,699 (GRCm39) |
|
probably null |
Het |
Aldoart1 |
T |
A |
4: 72,769,678 (GRCm39) |
K377* |
probably null |
Het |
Apc2 |
T |
A |
10: 80,138,017 (GRCm39) |
V100E |
possibly damaging |
Het |
Asxl3 |
T |
G |
18: 22,650,010 (GRCm39) |
D666E |
probably damaging |
Het |
Atg4c |
A |
T |
4: 99,109,632 (GRCm39) |
I200F |
possibly damaging |
Het |
Atp1a4 |
A |
G |
1: 172,078,474 (GRCm39) |
F255L |
probably benign |
Het |
Bod1l |
A |
C |
5: 41,970,463 (GRCm39) |
|
probably null |
Het |
Cacna2d4 |
A |
T |
6: 119,221,237 (GRCm39) |
T250S |
probably damaging |
Het |
Ccdc202 |
A |
G |
14: 96,119,273 (GRCm39) |
H10R |
probably benign |
Het |
Ccng1 |
G |
A |
11: 40,644,745 (GRCm39) |
R51W |
possibly damaging |
Het |
Chd6 |
T |
C |
2: 160,868,248 (GRCm39) |
E366G |
possibly damaging |
Het |
Clca4b |
A |
T |
3: 144,616,894 (GRCm39) |
S919T |
probably benign |
Het |
Col5a3 |
T |
C |
9: 20,682,131 (GRCm39) |
*1740W |
probably null |
Het |
Col6a5 |
A |
T |
9: 105,805,468 (GRCm39) |
I1146K |
unknown |
Het |
Cpxm1 |
T |
C |
2: 130,235,966 (GRCm39) |
T399A |
probably benign |
Het |
Cpz |
T |
C |
5: 35,668,486 (GRCm39) |
T375A |
probably benign |
Het |
Cyp2b13 |
T |
A |
7: 25,760,976 (GRCm39) |
V11D |
probably damaging |
Het |
Cyp39a1 |
A |
G |
17: 43,993,906 (GRCm39) |
T189A |
probably benign |
Het |
Desi2 |
C |
T |
1: 178,084,007 (GRCm39) |
Q52* |
probably null |
Het |
Dhx15 |
A |
G |
5: 52,319,953 (GRCm39) |
V418A |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,650,967 (GRCm39) |
M978L |
probably damaging |
Het |
Dpagt1 |
T |
A |
9: 44,237,384 (GRCm39) |
C17* |
probably null |
Het |
Dph5 |
A |
T |
3: 115,686,381 (GRCm39) |
K52N |
possibly damaging |
Het |
Dpp4 |
G |
T |
2: 62,182,582 (GRCm39) |
N566K |
probably benign |
Het |
Elavl4 |
T |
C |
4: 110,083,830 (GRCm39) |
Y94C |
probably damaging |
Het |
Fat2 |
G |
A |
11: 55,199,927 (GRCm39) |
T1049I |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,063,306 (GRCm39) |
Y4421N |
possibly damaging |
Het |
Fcrl2 |
C |
A |
3: 87,166,233 (GRCm39) |
A181S |
probably damaging |
Het |
Garre1 |
T |
C |
7: 33,984,219 (GRCm39) |
I135V |
possibly damaging |
Het |
Glg1 |
G |
T |
8: 111,887,386 (GRCm39) |
N456K |
unknown |
Het |
Gm10228 |
A |
G |
16: 88,838,101 (GRCm39) |
S68P |
unknown |
Het |
Golga4 |
G |
A |
9: 118,388,799 (GRCm39) |
E1974K |
probably damaging |
Het |
Heatr9 |
G |
T |
11: 83,410,094 (GRCm39) |
P49Q |
probably damaging |
Het |
Hmgxb3 |
A |
T |
18: 61,280,517 (GRCm39) |
V662D |
probably damaging |
Het |
Hs3st4 |
T |
C |
7: 123,582,513 (GRCm39) |
L37P |
probably damaging |
Het |
Ifi205 |
A |
T |
1: 173,855,943 (GRCm39) |
M29K |
probably benign |
Het |
Igkv1-35 |
C |
T |
6: 69,987,988 (GRCm39) |
V103M |
probably damaging |
Het |
Klf13 |
T |
A |
7: 63,541,504 (GRCm39) |
K208* |
probably null |
Het |
Klhl36 |
A |
G |
8: 120,597,121 (GRCm39) |
N274S |
probably benign |
Het |
Mosmo |
T |
A |
7: 120,329,873 (GRCm39) |
L165I |
probably benign |
Het |
Mtcl1 |
G |
A |
17: 66,649,901 (GRCm39) |
Q1855* |
probably null |
Het |
Muc16 |
A |
G |
9: 18,519,289 (GRCm39) |
V208A |
|
Het |
Nin |
T |
G |
12: 70,124,997 (GRCm39) |
R108S |
|
Het |
Odad1 |
T |
G |
7: 45,578,670 (GRCm39) |
L81R |
probably damaging |
Het |
Or13c7d |
T |
C |
4: 43,770,882 (GRCm39) |
N43S |
probably damaging |
Het |
Polr1a |
G |
A |
6: 71,903,643 (GRCm39) |
V319I |
probably benign |
Het |
Pramel7 |
A |
G |
2: 87,320,282 (GRCm39) |
V337A |
possibly damaging |
Het |
Prkar2b |
A |
T |
12: 32,013,150 (GRCm39) |
|
probably null |
Het |
R3hdm2 |
T |
A |
10: 127,294,016 (GRCm39) |
M170K |
probably benign |
Het |
Rbm26 |
A |
G |
14: 105,354,528 (GRCm39) |
I919T |
possibly damaging |
Het |
Rimkla |
A |
G |
4: 119,335,008 (GRCm39) |
M125T |
probably benign |
Het |
Sag |
T |
A |
1: 87,749,059 (GRCm39) |
F153I |
possibly damaging |
Het |
Sbf2 |
G |
T |
7: 109,950,957 (GRCm39) |
D1163E |
probably damaging |
Het |
Scgb2b24 |
T |
C |
7: 33,438,674 (GRCm39) |
I13V |
probably benign |
Het |
Scin |
G |
A |
12: 40,183,921 (GRCm39) |
H63Y |
probably damaging |
Het |
Sele |
A |
G |
1: 163,879,189 (GRCm39) |
T275A |
probably damaging |
Het |
Slc22a15 |
T |
A |
3: 101,805,256 (GRCm39) |
T144S |
probably benign |
Het |
Slc8a1 |
T |
A |
17: 81,749,092 (GRCm39) |
K650I |
probably benign |
Het |
Slc9c1 |
G |
T |
16: 45,413,847 (GRCm39) |
V992F |
probably damaging |
Het |
Spag16 |
A |
T |
1: 69,963,031 (GRCm39) |
T393S |
unknown |
Het |
Taf15 |
G |
A |
11: 83,395,779 (GRCm39) |
D495N |
unknown |
Het |
Tas2r144 |
T |
A |
6: 42,192,908 (GRCm39) |
I216N |
probably damaging |
Het |
Tbccd1 |
G |
T |
16: 22,644,563 (GRCm39) |
P271Q |
probably benign |
Het |
Tcf4 |
C |
A |
18: 69,480,249 (GRCm39) |
|
probably null |
Het |
Thap4 |
A |
T |
1: 93,678,223 (GRCm39) |
S188T |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,191,470 (GRCm39) |
V493A |
probably benign |
Het |
Trip11 |
A |
G |
12: 101,850,278 (GRCm39) |
V1262A |
possibly damaging |
Het |
Tspan2 |
T |
A |
3: 102,657,107 (GRCm39) |
W35R |
probably damaging |
Het |
Usp39 |
G |
T |
6: 72,313,251 (GRCm39) |
T313N |
possibly damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,327,306 (GRCm39) |
L638Q |
probably damaging |
Het |
Vps29 |
T |
C |
5: 122,492,541 (GRCm39) |
V2A |
probably benign |
Het |
Wrap53 |
A |
G |
11: 69,469,313 (GRCm39) |
F148L |
possibly damaging |
Het |
Znfx1 |
T |
C |
2: 166,897,712 (GRCm39) |
Y404C |
probably damaging |
Het |
Zrsr2-ps1 |
A |
G |
11: 22,923,580 (GRCm39) |
E118G |
probably benign |
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 |
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 |
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'- TACCCGGAGAATACCTAGGGTC -3'
(R):5'- GGCTTTAACCCATCCCTAGATC -3'
Sequencing Primer
(F):5'- GAGAATACCTAGGGTCCCTGTTC -3'
(R):5'- TTAACCCATCCCTAGATCAGGTG -3'
|
Posted On |
2019-10-07 |