Incidental Mutation 'R5416:Adcy3'
| ID |
427750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy3
|
| Ensembl Gene |
ENSMUSG00000020654 |
| Gene Name |
adenylate cyclase 3 |
| Synonyms |
AC3, ACIII |
| MMRRC Submission |
042985-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.877)
|
| Stock # |
R5416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4183397-4263525 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4259308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 861
(E861K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020981]
[ENSMUST00000020984]
[ENSMUST00000111169]
[ENSMUST00000124505]
[ENSMUST00000127756]
[ENSMUST00000140975]
[ENSMUST00000152065]
|
| AlphaFold |
Q8VHH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020981
|
| SMART Domains |
Protein: ENSMUSP00000020981
Gene: ENSMUSG00000020652
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-O
|
1 |
74 |
2.1e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020984
AA Change: E862K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654
AA Change: E862K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
transmembrane domain
|
105 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
transmembrane domain
|
170 |
187 |
N/A |
INTRINSIC |
|
transmembrane domain
|
189 |
211 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
245 |
N/A |
INTRINSIC |
|
CYCc
|
270 |
472 |
2.17e-61 |
SMART |
|
low complexity region
|
516 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
554 |
N/A |
INTRINSIC |
|
coiled coil region
|
567 |
600 |
N/A |
INTRINSIC |
|
transmembrane domain
|
631 |
650 |
N/A |
INTRINSIC |
|
transmembrane domain
|
660 |
682 |
N/A |
INTRINSIC |
|
transmembrane domain
|
710 |
732 |
N/A |
INTRINSIC |
|
transmembrane domain
|
752 |
771 |
N/A |
INTRINSIC |
|
transmembrane domain
|
776 |
798 |
N/A |
INTRINSIC |
|
transmembrane domain
|
841 |
858 |
N/A |
INTRINSIC |
|
CYCc
|
884 |
1103 |
2.02e-70 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111169
|
| SMART Domains |
Protein: ENSMUSP00000106799
Gene: ENSMUSG00000020652
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
39 |
74 |
N/A |
INTRINSIC |
|
Pfam:CENP-O
|
118 |
195 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124505
AA Change: E861K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654
AA Change: E861K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
transmembrane domain
|
105 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
transmembrane domain
|
170 |
187 |
N/A |
INTRINSIC |
|
transmembrane domain
|
189 |
211 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
245 |
N/A |
INTRINSIC |
|
CYCc
|
270 |
472 |
2.17e-61 |
SMART |
|
low complexity region
|
516 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
554 |
N/A |
INTRINSIC |
|
coiled coil region
|
567 |
600 |
N/A |
INTRINSIC |
|
transmembrane domain
|
631 |
650 |
N/A |
INTRINSIC |
|
transmembrane domain
|
660 |
682 |
N/A |
INTRINSIC |
|
transmembrane domain
|
710 |
732 |
N/A |
INTRINSIC |
|
transmembrane domain
|
752 |
771 |
N/A |
INTRINSIC |
|
transmembrane domain
|
776 |
798 |
N/A |
INTRINSIC |
|
transmembrane domain
|
840 |
857 |
N/A |
INTRINSIC |
|
CYCc
|
883 |
1102 |
2.02e-70 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127110
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127756
AA Change: E862K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654
AA Change: E862K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
|
CYCc
|
270 |
472 |
2.17e-61 |
SMART |
|
low complexity region
|
516 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
554 |
N/A |
INTRINSIC |
|
coiled coil region
|
567 |
600 |
N/A |
INTRINSIC |
|
transmembrane domain
|
631 |
650 |
N/A |
INTRINSIC |
|
transmembrane domain
|
660 |
682 |
N/A |
INTRINSIC |
|
transmembrane domain
|
710 |
732 |
N/A |
INTRINSIC |
|
transmembrane domain
|
752 |
771 |
N/A |
INTRINSIC |
|
transmembrane domain
|
776 |
798 |
N/A |
INTRINSIC |
|
transmembrane domain
|
841 |
858 |
N/A |
INTRINSIC |
|
CYCc
|
884 |
1103 |
2.02e-70 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140975
|
| SMART Domains |
Protein: ENSMUSP00000119136
Gene: ENSMUSG00000020652
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
39 |
74 |
N/A |
INTRINSIC |
|
Pfam:CENP-O
|
117 |
231 |
9.4e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152065
AA Change: E861K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654
AA Change: E861K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
transmembrane domain
|
105 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
transmembrane domain
|
170 |
187 |
N/A |
INTRINSIC |
|
transmembrane domain
|
189 |
211 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
245 |
N/A |
INTRINSIC |
|
CYCc
|
270 |
472 |
2.17e-61 |
SMART |
|
low complexity region
|
516 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
554 |
N/A |
INTRINSIC |
|
coiled coil region
|
567 |
600 |
N/A |
INTRINSIC |
|
transmembrane domain
|
631 |
650 |
N/A |
INTRINSIC |
|
transmembrane domain
|
660 |
682 |
N/A |
INTRINSIC |
|
transmembrane domain
|
710 |
732 |
N/A |
INTRINSIC |
|
transmembrane domain
|
752 |
771 |
N/A |
INTRINSIC |
|
transmembrane domain
|
776 |
798 |
N/A |
INTRINSIC |
|
transmembrane domain
|
840 |
857 |
N/A |
INTRINSIC |
|
CYCc
|
883 |
1102 |
2.02e-70 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146261
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for one mutation of this gene display impaired olfaction and disorganization of glomeruli in the main olfactory bulb. Mutant animals also appear to be sterile as homozygous matings failed to produce litters. Mice with another mutant allele fail to survive beyond weaning. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted(4) Gene trapped(5)
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,871,331 (GRCm39) |
E689D |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,227,997 (GRCm39) |
E339G |
probably benign |
Het |
| Adrm1 |
C |
T |
2: 179,817,930 (GRCm39) |
T394I |
probably benign |
Het |
| Adsl |
T |
A |
15: 80,836,384 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,551 (GRCm39) |
C1854S |
probably damaging |
Het |
| C87436 |
A |
G |
6: 86,442,832 (GRCm39) |
Y458C |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,341,525 (GRCm39) |
D1161G |
probably damaging |
Het |
| Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
| Ccr1 |
G |
T |
9: 123,764,413 (GRCm39) |
P39H |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,226,809 (GRCm39) |
Y90C |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,578,100 (GRCm39) |
R510G |
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,141,211 (GRCm39) |
T115A |
probably benign |
Het |
| Clptm1 |
C |
A |
7: 19,367,741 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,020,786 (GRCm39) |
R386* |
probably null |
Het |
| Ctsj |
G |
T |
13: 61,152,337 (GRCm39) |
L10M |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,517 (GRCm39) |
D302G |
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,243,131 (GRCm39) |
F166L |
possibly damaging |
Het |
| Epha1 |
A |
T |
6: 42,342,805 (GRCm39) |
M248K |
probably damaging |
Het |
| Evpl |
C |
A |
11: 116,125,085 (GRCm39) |
V126L |
probably benign |
Het |
| Fam83d |
T |
C |
2: 158,627,552 (GRCm39) |
C414R |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,194,514 (GRCm39) |
N1175S |
possibly damaging |
Het |
| Fhad1 |
G |
A |
4: 141,646,113 (GRCm39) |
T283I |
probably benign |
Het |
| Fuca1 |
A |
G |
4: 135,650,291 (GRCm39) |
T121A |
probably damaging |
Het |
| Gm13941 |
A |
T |
2: 110,925,079 (GRCm39) |
S175T |
unknown |
Het |
| Gpr107 |
T |
A |
2: 31,075,560 (GRCm39) |
I357N |
probably damaging |
Het |
| Gpr161 |
T |
A |
1: 165,149,030 (GRCm39) |
H466Q |
probably benign |
Het |
| Hsd3b5 |
A |
G |
3: 98,526,466 (GRCm39) |
F327L |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Itgb7 |
A |
T |
15: 102,125,744 (GRCm39) |
D628E |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,322 (GRCm39) |
D236G |
possibly damaging |
Het |
| Or56b2j |
C |
T |
7: 104,352,923 (GRCm39) |
L50F |
probably benign |
Het |
| Or6d14 |
A |
T |
6: 116,534,166 (GRCm39) |
Y260F |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,490,008 (GRCm39) |
Y562C |
probably damaging |
Het |
| Phkg2 |
A |
G |
7: 127,182,107 (GRCm39) |
H376R |
possibly damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,673,416 (GRCm39) |
T1018I |
probably damaging |
Het |
| Ppp6r1 |
A |
T |
7: 4,642,747 (GRCm39) |
D532E |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,623,814 (GRCm39) |
L3259P |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,091,326 (GRCm39) |
D641E |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,216,525 (GRCm39) |
T105A |
probably benign |
Het |
| Ptprs |
T |
C |
17: 56,742,724 (GRCm39) |
T473A |
probably damaging |
Het |
| Pwp2 |
G |
T |
10: 78,018,835 (GRCm39) |
N57K |
probably damaging |
Het |
| Rnf216 |
G |
T |
5: 143,001,526 (GRCm39) |
C733* |
probably null |
Het |
| Serpina1f |
T |
A |
12: 103,660,203 (GRCm39) |
K26N |
possibly damaging |
Het |
| Sez6l2 |
T |
A |
7: 126,561,058 (GRCm39) |
C448S |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,724,607 (GRCm39) |
L216M |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,365,433 (GRCm39) |
S117P |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,913,932 (GRCm39) |
C1332* |
probably null |
Het |
| Specc1 |
T |
C |
11: 62,009,735 (GRCm39) |
V497A |
probably benign |
Het |
| Tmem204 |
T |
C |
17: 25,277,300 (GRCm39) |
E195G |
probably damaging |
Het |
| Tnfrsf13b |
T |
C |
11: 61,037,849 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
G |
A |
12: 86,059,602 (GRCm39) |
V1250M |
possibly damaging |
Het |
| Ube4a |
G |
A |
9: 44,852,476 (GRCm39) |
T681I |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,879 (GRCm39) |
V404I |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,030,319 (GRCm39) |
S919P |
probably benign |
Het |
| Zfp575 |
C |
T |
7: 24,286,147 (GRCm39) |
G3D |
probably benign |
Het |
| Zfp644 |
C |
T |
5: 106,766,294 (GRCm39) |
|
silent |
Het |
|
| Other mutations in Adcy3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Adcy3
|
APN |
12 |
4,244,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00985:Adcy3
|
APN |
12 |
4,184,600 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01735:Adcy3
|
APN |
12 |
4,251,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02097:Adcy3
|
APN |
12 |
4,262,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02102:Adcy3
|
APN |
12 |
4,184,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02103:Adcy3
|
APN |
12 |
4,184,390 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02155:Adcy3
|
APN |
12 |
4,262,142 (GRCm39) |
nonsense |
probably null |
|
|
IGL02376:Adcy3
|
APN |
12 |
4,251,031 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02411:Adcy3
|
APN |
12 |
4,259,407 (GRCm39) |
splice site |
probably null |
|
|
IGL02465:Adcy3
|
APN |
12 |
4,250,906 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02819:Adcy3
|
APN |
12 |
4,256,986 (GRCm39) |
splice site |
probably benign |
|
|
magnificent_frigatebird
|
UTSW |
12 |
4,244,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Adcy3
|
UTSW |
12 |
4,245,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0015:Adcy3
|
UTSW |
12 |
4,245,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0918:Adcy3
|
UTSW |
12 |
4,248,360 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1480:Adcy3
|
UTSW |
12 |
4,262,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1736:Adcy3
|
UTSW |
12 |
4,250,998 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1885:Adcy3
|
UTSW |
12 |
4,184,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Adcy3
|
UTSW |
12 |
4,223,450 (GRCm39) |
splice site |
probably benign |
|
|
R1951:Adcy3
|
UTSW |
12 |
4,258,624 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2083:Adcy3
|
UTSW |
12 |
4,223,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2417:Adcy3
|
UTSW |
12 |
4,258,627 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4379:Adcy3
|
UTSW |
12 |
4,184,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Adcy3
|
UTSW |
12 |
4,256,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4960:Adcy3
|
UTSW |
12 |
4,184,896 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5001:Adcy3
|
UTSW |
12 |
4,248,434 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5166:Adcy3
|
UTSW |
12 |
4,184,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5375:Adcy3
|
UTSW |
12 |
4,260,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5998:Adcy3
|
UTSW |
12 |
4,248,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6248:Adcy3
|
UTSW |
12 |
4,258,662 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6490:Adcy3
|
UTSW |
12 |
4,262,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6566:Adcy3
|
UTSW |
12 |
4,244,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7145:Adcy3
|
UTSW |
12 |
4,250,992 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7283:Adcy3
|
UTSW |
12 |
4,253,563 (GRCm39) |
missense |
not run |
|
|
R7559:Adcy3
|
UTSW |
12 |
4,248,440 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7691:Adcy3
|
UTSW |
12 |
4,256,540 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7799:Adcy3
|
UTSW |
12 |
4,254,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Adcy3
|
UTSW |
12 |
4,184,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8283:Adcy3
|
UTSW |
12 |
4,250,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8298:Adcy3
|
UTSW |
12 |
4,256,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Adcy3
|
UTSW |
12 |
4,262,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9145:Adcy3
|
UTSW |
12 |
4,245,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9361:Adcy3
|
UTSW |
12 |
4,259,366 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9464:Adcy3
|
UTSW |
12 |
4,256,939 (GRCm39) |
missense |
probably benign |
|
|
R9643:Adcy3
|
UTSW |
12 |
4,259,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGTATCAAGAGGCCCAGG -3'
(R):5'- CTTGACTCAGTGCTCCTCAG -3'
Sequencing Primer
(F):5'- TATCAAGAGGCCCAGGTCCTTAATG -3'
(R):5'- TTGACTCAGTGCTCCTCAGAGAAAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation