Incidental Mutation 'R9448:Adcy1'
| ID |
714077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy1
|
| Ensembl Gene |
ENSMUSG00000020431 |
| Gene Name |
adenylate cyclase 1 |
| Synonyms |
AC1, I-AC, D11Bwg1392e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9448 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
7013489-7128506 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7099575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 685
(V685A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020706]
|
| AlphaFold |
O88444 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020706
AA Change: V685A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: V685A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Atg9a |
G |
T |
1: 75,162,849 (GRCm39) |
T417K |
probably benign |
Het |
| Atp6v1a |
T |
A |
16: 43,931,872 (GRCm39) |
K139* |
probably null |
Het |
| Baz1b |
T |
C |
5: 135,239,656 (GRCm39) |
I252T |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,759,338 (GRCm39) |
W380R |
|
Het |
| Cep290 |
T |
G |
10: 100,395,546 (GRCm39) |
V2118G |
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,677,773 (GRCm39) |
D352G |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,460,315 (GRCm39) |
D2581G |
|
Het |
| Diras2 |
T |
A |
13: 52,662,122 (GRCm39) |
T62S |
possibly damaging |
Het |
| Dmrt1 |
T |
C |
19: 25,523,255 (GRCm39) |
V202A |
possibly damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,972 (GRCm39) |
K46E |
probably damaging |
Het |
| Dph7 |
A |
T |
2: 24,861,952 (GRCm39) |
K455M |
probably damaging |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Ehbp1 |
T |
C |
11: 22,087,881 (GRCm39) |
N426S |
probably benign |
Het |
| Exo5 |
A |
G |
4: 120,778,888 (GRCm39) |
W326R |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,792,411 (GRCm39) |
|
probably null |
Het |
| Flii |
T |
C |
11: 60,606,393 (GRCm39) |
N1099S |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,744,406 (GRCm39) |
T381A |
possibly damaging |
Het |
| Foxl1 |
T |
C |
8: 121,855,608 (GRCm39) |
V303A |
probably benign |
Het |
| Fsd1l |
G |
T |
4: 53,694,826 (GRCm39) |
E427* |
probably null |
Het |
| Galnt18 |
A |
T |
7: 111,153,649 (GRCm39) |
I325N |
probably damaging |
Het |
| Gm5478 |
T |
C |
15: 101,553,662 (GRCm39) |
N274S |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,335,193 (GRCm39) |
T535S |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,068,015 (GRCm39) |
D1791G |
probably benign |
Het |
| Igkv12-98 |
T |
C |
6: 68,548,156 (GRCm39) |
I95T |
probably damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,366,604 (GRCm39) |
Y46C |
probably benign |
Het |
| Inhca |
G |
T |
9: 103,149,781 (GRCm39) |
Q259K |
probably benign |
Het |
| Kdr |
T |
C |
5: 76,102,569 (GRCm39) |
E1186G |
probably benign |
Het |
| Knstrn |
T |
C |
2: 118,644,975 (GRCm39) |
|
probably null |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,666,455 (GRCm39) |
Q1383* |
probably null |
Het |
| Mep1a |
T |
C |
17: 43,805,869 (GRCm39) |
|
probably null |
Het |
| Mep1b |
A |
G |
18: 21,217,199 (GRCm39) |
D106G |
probably damaging |
Het |
| Moxd2 |
T |
C |
6: 40,864,160 (GRCm39) |
N90S |
probably benign |
Het |
| Ms4a4c |
T |
A |
19: 11,392,317 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
A |
T |
7: 23,000,956 (GRCm39) |
M84L |
probably benign |
Het |
| Noc2l |
C |
A |
4: 156,320,781 (GRCm39) |
R66S |
probably benign |
Het |
| Nox4 |
A |
T |
7: 87,045,001 (GRCm39) |
L580F |
unknown |
Het |
| Numb |
A |
G |
12: 83,888,990 (GRCm39) |
|
probably null |
Het |
| Or1l4 |
A |
G |
2: 37,091,221 (GRCm39) |
|
probably benign |
Het |
| Or5w13 |
A |
T |
2: 87,523,824 (GRCm39) |
V134E |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 117,039,360 (GRCm39) |
K274* |
probably null |
Het |
| Pcdh1 |
G |
A |
18: 38,330,492 (GRCm39) |
P976L |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,256,360 (GRCm39) |
K627E |
probably damaging |
Het |
| Pdzk1 |
A |
T |
3: 96,761,922 (GRCm39) |
D178V |
probably damaging |
Het |
| Phldb1 |
G |
T |
9: 44,622,546 (GRCm39) |
L36M |
possibly damaging |
Het |
| Pip5k1c |
A |
G |
10: 81,141,645 (GRCm39) |
E111G |
probably damaging |
Het |
| Plcb4 |
G |
A |
2: 135,752,045 (GRCm39) |
E84K |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,108,034 (GRCm39) |
Y646N |
probably benign |
Het |
| Psmc6 |
T |
C |
14: 45,568,483 (GRCm39) |
F69L |
probably benign |
Het |
| Ptk2 |
T |
A |
15: 73,215,041 (GRCm39) |
S46C |
possibly damaging |
Het |
| Ptpn6 |
G |
A |
6: 124,709,771 (GRCm39) |
R23W |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,149,819 (GRCm39) |
Y143* |
probably null |
Het |
| Qrich2 |
T |
C |
11: 116,338,091 (GRCm39) |
E141G |
probably benign |
Het |
| Rsf1 |
G |
GCCGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,381,127 (GRCm39) |
L136P |
probably damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,179,704 (GRCm39) |
F676S |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,850,250 (GRCm39) |
Y635* |
probably null |
Het |
| Spata31f1e |
T |
C |
4: 42,793,440 (GRCm39) |
R231G |
probably benign |
Het |
| Spata32 |
C |
T |
11: 103,099,648 (GRCm39) |
G286R |
probably damaging |
Het |
| Tbx19 |
T |
C |
1: 164,981,090 (GRCm39) |
K135E |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,567 (GRCm39) |
T1494A |
probably benign |
Het |
| Tmem62 |
A |
C |
2: 120,808,211 (GRCm39) |
D71A |
probably damaging |
Het |
| Tnfsf15 |
A |
T |
4: 63,663,305 (GRCm39) |
V6D |
possibly damaging |
Het |
| Tulp4 |
T |
C |
17: 6,248,948 (GRCm39) |
V182A |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,522,027 (GRCm39) |
V104D |
probably benign |
Het |
| Zdhhc8 |
C |
A |
16: 18,039,558 (GRCm39) |
G159C |
|
Het |
| Zfy2 |
A |
G |
Y: 2,109,904 (GRCm39) |
W338R |
probably damaging |
Het |
| Znfx1 |
T |
G |
2: 166,888,844 (GRCm39) |
Q788P |
probably benign |
Het |
| Zscan26 |
A |
G |
13: 21,632,431 (GRCm39) |
V100A |
probably benign |
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 |
|
R5304:Adcy1
|
UTSW |
11 |
7,014,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CAGAAGTACTTCCCAGTCACAG -3'
(R):5'- TGAACCAGGTAGTGCTAGCTC -3'
Sequencing Primer
(F):5'- GTACTTCCCAGTCACAGGATATTTG -3'
(R):5'- GTAGTGCTAGCTCCTGCCTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation