Incidental Mutation 'R5304:Adcy1'
| ID |
404445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy1
|
| Ensembl Gene |
ENSMUSG00000020431 |
| Gene Name |
adenylate cyclase 1 |
| Synonyms |
AC1, I-AC, D11Bwg1392e |
| MMRRC Submission |
042887-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5304 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
7013489-7128506 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 7014198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 200
(A200V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020706]
|
| AlphaFold |
O88444 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020706
AA Change: A200V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: A200V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
135 |
N/A |
INTRINSIC |
|
CYCc
|
257 |
455 |
2.05e-80 |
SMART |
|
transmembrane domain
|
608 |
630 |
N/A |
INTRINSIC |
|
transmembrane domain
|
634 |
656 |
N/A |
INTRINSIC |
|
transmembrane domain
|
676 |
698 |
N/A |
INTRINSIC |
|
CYCc
|
827 |
1038 |
1.71e-50 |
SMART |
|
low complexity region
|
1090 |
1104 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (87/88) |
| 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 of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for an insertional or null mutation fail to develop normal patterned distribution of neurons in the brain and display behavioral and learning abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,726,372 (GRCm39) |
D551G |
possibly damaging |
Het |
| Aldh3a2 |
A |
G |
11: 61,144,538 (GRCm39) |
V340A |
probably damaging |
Het |
| Amy1 |
C |
A |
3: 113,352,013 (GRCm39) |
C393F |
probably damaging |
Het |
| Ankrd16 |
T |
C |
2: 11,794,545 (GRCm39) |
V310A |
probably benign |
Het |
| Arhgef15 |
T |
C |
11: 68,838,063 (GRCm39) |
S686G |
probably null |
Het |
| Arid4b |
T |
A |
13: 14,361,514 (GRCm39) |
N659K |
probably benign |
Het |
| Asz1 |
C |
T |
6: 18,076,619 (GRCm39) |
R191Q |
probably benign |
Het |
| Atp2a3 |
A |
G |
11: 72,879,383 (GRCm39) |
I947V |
probably damaging |
Het |
| AW011738 |
G |
A |
4: 156,287,969 (GRCm39) |
|
probably benign |
Het |
| Bfsp1 |
G |
T |
2: 143,669,211 (GRCm39) |
T456K |
probably benign |
Het |
| Cdc25c |
T |
C |
18: 34,883,864 (GRCm39) |
T40A |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 110,036,569 (GRCm39) |
C583Y |
probably damaging |
Het |
| Ceacam23 |
A |
C |
7: 17,636,617 (GRCm39) |
E231D |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,656,968 (GRCm39) |
L3028Q |
probably damaging |
Het |
| Chd1 |
A |
G |
17: 15,975,213 (GRCm39) |
S1088G |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,990,530 (GRCm39) |
H1694L |
possibly damaging |
Het |
| Cstf3 |
G |
T |
2: 104,493,735 (GRCm39) |
E580* |
probably null |
Het |
| Dip2a |
A |
T |
10: 76,130,357 (GRCm39) |
M622K |
possibly damaging |
Het |
| Dlgap1 |
A |
T |
17: 71,122,202 (GRCm39) |
H877L |
probably damaging |
Het |
| Egfr |
G |
T |
11: 16,834,260 (GRCm39) |
M122I |
probably benign |
Het |
| Etfbkmt |
T |
A |
6: 149,048,704 (GRCm39) |
D114E |
probably damaging |
Het |
| Eva1c |
T |
C |
16: 90,666,551 (GRCm39) |
L158P |
probably damaging |
Het |
| Exo1 |
G |
A |
1: 175,720,542 (GRCm39) |
V287M |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,226,654 (GRCm39) |
Y471H |
probably damaging |
Het |
| Fermt1 |
T |
A |
2: 132,783,986 (GRCm39) |
T8S |
probably benign |
Het |
| Fgfr2 |
G |
T |
7: 129,769,504 (GRCm39) |
P630T |
probably damaging |
Het |
| Fmo5 |
G |
A |
3: 97,558,938 (GRCm39) |
G466E |
probably damaging |
Het |
| Hcn4 |
A |
G |
9: 58,751,215 (GRCm39) |
I280M |
probably benign |
Het |
| Ifi208 |
A |
C |
1: 173,511,174 (GRCm39) |
K443T |
probably benign |
Het |
| Irs3 |
A |
G |
5: 137,643,003 (GRCm39) |
F145S |
probably benign |
Het |
| Kirrel1 |
T |
A |
3: 86,996,902 (GRCm39) |
H300L |
probably benign |
Het |
| Krit1 |
A |
G |
5: 3,869,326 (GRCm39) |
Q340R |
probably damaging |
Het |
| Lipo5 |
T |
C |
19: 33,445,149 (GRCm39) |
D140G |
unknown |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,683 (GRCm39) |
Q365L |
probably benign |
Het |
| Lrwd1 |
G |
T |
5: 136,160,004 (GRCm39) |
T353K |
possibly damaging |
Het |
| Lsm14a |
A |
T |
7: 34,053,154 (GRCm39) |
S240R |
possibly damaging |
Het |
| Map3k5 |
A |
G |
10: 19,983,984 (GRCm39) |
I870V |
probably benign |
Het |
| Matcap2 |
A |
T |
9: 22,335,528 (GRCm39) |
T49S |
probably benign |
Het |
| Mmp17 |
A |
T |
5: 129,671,678 (GRCm39) |
E76V |
probably null |
Het |
| Mphosph10 |
A |
G |
7: 64,038,732 (GRCm39) |
F272L |
probably damaging |
Het |
| Mtcl2 |
G |
A |
2: 156,865,737 (GRCm39) |
Q1127* |
probably null |
Het |
| Myh10 |
A |
G |
11: 68,655,071 (GRCm39) |
K380R |
probably damaging |
Het |
| Myo3b |
C |
T |
2: 70,257,232 (GRCm39) |
P1282L |
probably damaging |
Het |
| Nemp2 |
T |
C |
1: 52,682,238 (GRCm39) |
|
probably benign |
Het |
| Ola1 |
T |
C |
2: 73,029,778 (GRCm39) |
I114V |
probably damaging |
Het |
| Or4c3d |
T |
A |
2: 89,882,257 (GRCm39) |
H137L |
probably benign |
Het |
| Or8k28 |
T |
A |
2: 86,285,779 (GRCm39) |
T279S |
probably damaging |
Het |
| Pabpc4 |
T |
G |
4: 123,184,100 (GRCm39) |
D204E |
probably benign |
Het |
| Pigr |
A |
T |
1: 130,777,230 (GRCm39) |
M679L |
probably benign |
Het |
| Pik3c2b |
A |
T |
1: 132,998,146 (GRCm39) |
M341L |
possibly damaging |
Het |
| Plin4 |
T |
A |
17: 56,413,132 (GRCm39) |
T498S |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,562,459 (GRCm39) |
S15P |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,984 (GRCm39) |
Y502C |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,468,050 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
T |
C |
11: 54,548,200 (GRCm39) |
S505P |
probably benign |
Het |
| Rgmb |
G |
T |
17: 16,040,990 (GRCm39) |
S199* |
probably null |
Het |
| Rgsl1 |
T |
C |
1: 153,703,238 (GRCm39) |
T173A |
probably damaging |
Het |
| Rhobtb1 |
G |
T |
10: 69,105,742 (GRCm39) |
K102N |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,858,649 (GRCm39) |
D147V |
probably damaging |
Het |
| Rsad2 |
A |
T |
12: 26,500,681 (GRCm39) |
V202E |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,629,141 (GRCm39) |
N186S |
probably damaging |
Het |
| Sorbs3 |
G |
A |
14: 70,422,345 (GRCm39) |
R622* |
probably null |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Srgap3 |
T |
C |
6: 112,743,900 (GRCm39) |
Y446C |
probably damaging |
Het |
| Thsd7b |
C |
T |
1: 129,605,980 (GRCm39) |
R574* |
probably null |
Het |
| Tmem74 |
A |
T |
15: 43,730,217 (GRCm39) |
Y275* |
probably null |
Het |
| Topors |
A |
T |
4: 40,262,541 (GRCm39) |
S248T |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 63,858,694 (GRCm39) |
Y239F |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,548,527 (GRCm39) |
Y30179F |
possibly damaging |
Het |
| Ugt2b34 |
A |
T |
5: 87,040,724 (GRCm39) |
F399L |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,088,995 (GRCm39) |
I317F |
probably damaging |
Het |
| Usp1 |
T |
C |
4: 98,822,855 (GRCm39) |
V723A |
probably benign |
Het |
| Usp34 |
T |
G |
11: 23,293,616 (GRCm39) |
L237V |
probably damaging |
Het |
| Vgf |
A |
T |
5: 137,061,140 (GRCm39) |
D434V |
probably damaging |
Het |
| Vmn1r179 |
A |
G |
7: 23,628,100 (GRCm39) |
N97S |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,687,751 (GRCm39) |
L899P |
possibly damaging |
Het |
| Vps33b |
A |
T |
7: 79,924,001 (GRCm39) |
I41F |
probably damaging |
Het |
| Zap70 |
A |
T |
1: 36,817,299 (GRCm39) |
H210L |
probably damaging |
Het |
| Zc3h8 |
T |
C |
2: 128,770,835 (GRCm39) |
D300G |
probably benign |
Het |
| Zfp958 |
C |
A |
8: 4,676,196 (GRCm39) |
H55N |
possibly damaging |
Het |
|
| Other mutations in Adcy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Adcy1
|
APN |
11 |
7,087,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01325:Adcy1
|
APN |
11 |
7,014,102 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01531:Adcy1
|
APN |
11 |
7,119,414 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01585:Adcy1
|
APN |
11 |
7,117,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01932:Adcy1
|
APN |
11 |
7,050,565 (GRCm39) |
splice site |
probably benign |
|
|
IGL01945:Adcy1
|
APN |
11 |
7,111,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02532:Adcy1
|
APN |
11 |
7,094,737 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02649:Adcy1
|
APN |
11 |
7,117,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02658:Adcy1
|
APN |
11 |
7,088,279 (GRCm39) |
splice site |
probably benign |
|
|
IGL02813:Adcy1
|
APN |
11 |
7,096,591 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02931:Adcy1
|
APN |
11 |
7,029,012 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03116:Adcy1
|
APN |
11 |
7,100,071 (GRCm39) |
missense |
probably benign |
|
|
IGL03119:Adcy1
|
APN |
11 |
7,059,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03214:Adcy1
|
APN |
11 |
7,117,054 (GRCm39) |
splice site |
probably benign |
|
|
PIT4431001:Adcy1
|
UTSW |
11 |
7,014,089 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
PIT4520001:Adcy1
|
UTSW |
11 |
7,117,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Adcy1
|
UTSW |
11 |
7,094,729 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0032:Adcy1
|
UTSW |
11 |
7,094,729 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0080:Adcy1
|
UTSW |
11 |
7,099,497 (GRCm39) |
splice site |
probably benign |
|
|
R0082:Adcy1
|
UTSW |
11 |
7,099,497 (GRCm39) |
splice site |
probably benign |
|
|
R0238:Adcy1
|
UTSW |
11 |
7,089,162 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0238:Adcy1
|
UTSW |
11 |
7,089,162 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0312:Adcy1
|
UTSW |
11 |
7,099,538 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0569:Adcy1
|
UTSW |
11 |
7,096,514 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1055:Adcy1
|
UTSW |
11 |
7,059,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1144:Adcy1
|
UTSW |
11 |
7,087,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1179:Adcy1
|
UTSW |
11 |
7,117,054 (GRCm39) |
splice site |
probably null |
|
|
R1245:Adcy1
|
UTSW |
11 |
7,119,410 (GRCm39) |
splice site |
probably benign |
|
|
R1467:Adcy1
|
UTSW |
11 |
7,088,396 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1467:Adcy1
|
UTSW |
11 |
7,088,396 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1823:Adcy1
|
UTSW |
11 |
7,111,312 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1953:Adcy1
|
UTSW |
11 |
7,028,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1957:Adcy1
|
UTSW |
11 |
7,111,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2029:Adcy1
|
UTSW |
11 |
7,089,142 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2051:Adcy1
|
UTSW |
11 |
7,111,885 (GRCm39) |
nonsense |
probably null |
|
|
R2483:Adcy1
|
UTSW |
11 |
7,080,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3108:Adcy1
|
UTSW |
11 |
7,119,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3623:Adcy1
|
UTSW |
11 |
7,080,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3624:Adcy1
|
UTSW |
11 |
7,080,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4082:Adcy1
|
UTSW |
11 |
7,014,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4159:Adcy1
|
UTSW |
11 |
7,013,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4470:Adcy1
|
UTSW |
11 |
7,094,804 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4472:Adcy1
|
UTSW |
11 |
7,080,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Adcy1
|
UTSW |
11 |
7,088,336 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4997:Adcy1
|
UTSW |
11 |
7,111,298 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5237:Adcy1
|
UTSW |
11 |
7,099,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5288:Adcy1
|
UTSW |
11 |
7,111,351 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5341:Adcy1
|
UTSW |
11 |
7,080,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5379:Adcy1
|
UTSW |
11 |
7,096,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5592:Adcy1
|
UTSW |
11 |
7,089,088 (GRCm39) |
nonsense |
probably null |
|
|
R5677:Adcy1
|
UTSW |
11 |
7,111,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5680:Adcy1
|
UTSW |
11 |
7,059,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5753:Adcy1
|
UTSW |
11 |
7,080,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Adcy1
|
UTSW |
11 |
7,089,095 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5943:Adcy1
|
UTSW |
11 |
7,111,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6435:Adcy1
|
UTSW |
11 |
7,111,367 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6931:Adcy1
|
UTSW |
11 |
7,100,884 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6998:Adcy1
|
UTSW |
11 |
7,029,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7368:Adcy1
|
UTSW |
11 |
7,094,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Adcy1
|
UTSW |
11 |
7,119,543 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7393:Adcy1
|
UTSW |
11 |
7,087,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7500:Adcy1
|
UTSW |
11 |
7,094,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Adcy1
|
UTSW |
11 |
7,089,157 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8681:Adcy1
|
UTSW |
11 |
7,111,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Adcy1
|
UTSW |
11 |
7,111,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:Adcy1
|
UTSW |
11 |
7,111,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:Adcy1
|
UTSW |
11 |
7,111,362 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8859:Adcy1
|
UTSW |
11 |
7,111,877 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8894:Adcy1
|
UTSW |
11 |
7,087,375 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8904:Adcy1
|
UTSW |
11 |
7,059,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Adcy1
|
UTSW |
11 |
7,099,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9037:Adcy1
|
UTSW |
11 |
7,087,325 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9172:Adcy1
|
UTSW |
11 |
7,110,317 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9303:Adcy1
|
UTSW |
11 |
7,094,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Adcy1
|
UTSW |
11 |
7,099,575 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9694:Adcy1
|
UTSW |
11 |
7,094,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9763:Adcy1
|
UTSW |
11 |
7,014,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Adcy1
|
UTSW |
11 |
7,111,930 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1088:Adcy1
|
UTSW |
11 |
7,100,019 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1176:Adcy1
|
UTSW |
11 |
7,100,857 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Adcy1
|
UTSW |
11 |
7,099,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Adcy1
|
UTSW |
11 |
7,059,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Adcy1
|
UTSW |
11 |
7,100,858 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1177:Adcy1
|
UTSW |
11 |
7,094,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Adcy1
|
UTSW |
11 |
7,050,642 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCAATGTCCGATCCCTG -3'
(R):5'- GTTGACCTTGAACACCTGTCCC -3'
Sequencing Primer
(F):5'- AATGTCCGATCCCTGCAGGTG -3'
(R):5'- TGTCCCACCTTCAGAACCTCAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation