Incidental Mutation 'R9694:Adcy1'
| ID |
735964 |
| 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 # |
R9694 (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 7094774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 567
(Y567H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020706]
|
| AlphaFold |
O88444 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020706
AA Change: Y567H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: Y567H
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,899,573 (GRCm39) |
Y948N |
probably damaging |
Het |
| Adamts2 |
A |
G |
11: 50,558,972 (GRCm39) |
D229G |
probably benign |
Het |
| Adamts4 |
T |
C |
1: 171,081,530 (GRCm39) |
S395P |
probably benign |
Het |
| Agap3 |
A |
G |
5: 24,682,139 (GRCm39) |
N212D |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,597,708 (GRCm39) |
F775S |
probably damaging |
Het |
| Baz1b |
A |
T |
5: 135,273,094 (GRCm39) |
Q1406L |
probably benign |
Het |
| C030006K11Rik |
A |
T |
15: 76,607,928 (GRCm39) |
V30D |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,701,993 (GRCm39) |
V262E |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,632,803 (GRCm39) |
G183R |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,441,341 (GRCm39) |
I2257T |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,754,809 (GRCm39) |
I266T |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,923,685 (GRCm39) |
Y319* |
probably null |
Het |
| Dcdc2a |
A |
T |
13: 25,286,340 (GRCm39) |
I125F |
probably benign |
Het |
| Dcdc2c |
A |
T |
12: 28,585,553 (GRCm39) |
I80N |
|
Het |
| Dmtn |
T |
C |
14: 70,852,732 (GRCm39) |
|
probably null |
Het |
| Dock2 |
T |
C |
11: 34,218,054 (GRCm39) |
N1172S |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,818,791 (GRCm39) |
S1564P |
probably damaging |
Het |
| Ecel1 |
T |
C |
1: 87,080,853 (GRCm39) |
I350V |
possibly damaging |
Het |
| Eif4enif1 |
C |
T |
11: 3,170,384 (GRCm39) |
L146F |
probably damaging |
Het |
| Ergic1 |
T |
G |
17: 26,843,585 (GRCm39) |
D59E |
probably benign |
Het |
| F2rl2 |
A |
T |
13: 95,838,050 (GRCm39) |
D365V |
possibly damaging |
Het |
| Fbxl16 |
C |
T |
17: 26,036,813 (GRCm39) |
Q265* |
probably null |
Het |
| Fbxw26 |
T |
C |
9: 109,575,135 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,929,545 (GRCm39) |
Y3983F |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,966,460 (GRCm39) |
D78E |
probably benign |
Het |
| Gas2l2 |
A |
C |
11: 83,314,170 (GRCm39) |
S381A |
possibly damaging |
Het |
| Gm57858 |
A |
G |
3: 36,073,092 (GRCm39) |
S397P |
possibly damaging |
Het |
| Grk2 |
G |
A |
19: 4,338,511 (GRCm39) |
R474C |
probably damaging |
Het |
| Gxylt2 |
T |
A |
6: 100,710,174 (GRCm39) |
V105E |
probably benign |
Het |
| Hexd |
T |
C |
11: 121,107,813 (GRCm39) |
V181A |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,807,691 (GRCm39) |
T274A |
probably benign |
Het |
| Ik |
T |
A |
18: 36,877,840 (GRCm39) |
D5E |
probably benign |
Het |
| Ilkap |
A |
G |
1: 91,303,973 (GRCm39) |
C163R |
|
Het |
| Itpr3 |
C |
T |
17: 27,334,927 (GRCm39) |
T2147I |
probably damaging |
Het |
| Kif1a |
A |
T |
1: 92,950,173 (GRCm39) |
V1418E |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,815 (GRCm39) |
C1304R |
probably benign |
Het |
| Lmna |
CAGCACGGTGCGTGAGC |
CAGC |
3: 88,389,857 (GRCm39) |
|
probably null |
Het |
| Lvrn |
A |
T |
18: 47,033,609 (GRCm39) |
D940V |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,997,027 (GRCm39) |
R206H |
probably benign |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,268 (GRCm39) |
L137Q |
probably damaging |
Het |
| Npc2 |
C |
A |
12: 84,807,638 (GRCm39) |
L73F |
probably benign |
Het |
| Or11g26 |
A |
G |
14: 50,752,669 (GRCm39) |
T3A |
probably benign |
Het |
| Or52i2 |
A |
T |
7: 102,320,011 (GRCm39) |
I295F |
possibly damaging |
Het |
| Or5al1 |
T |
C |
2: 85,990,681 (GRCm39) |
E11G |
probably benign |
Het |
| Or5b97 |
A |
T |
19: 12,879,021 (GRCm39) |
V41E |
probably damaging |
Het |
| Or5j3 |
T |
C |
2: 86,128,718 (GRCm39) |
I186T |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,952,565 (GRCm39) |
H533R |
probably benign |
Het |
| Pax7 |
G |
A |
4: 139,556,819 (GRCm39) |
T147M |
probably benign |
Het |
| Pdik1l |
A |
T |
4: 134,006,711 (GRCm39) |
S143T |
unknown |
Het |
| Prkg1 |
T |
G |
19: 30,764,371 (GRCm39) |
T255P |
possibly damaging |
Het |
| Prmt2 |
A |
T |
10: 76,061,213 (GRCm39) |
I91N |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,116,484 (GRCm39) |
Y932H |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 22,959,694 (GRCm39) |
I64F |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,337,946 (GRCm39) |
K154R |
probably damaging |
Het |
| Rab8b |
T |
C |
9: 66,826,824 (GRCm39) |
D31G |
probably benign |
Het |
| Radil |
A |
G |
5: 142,473,378 (GRCm39) |
S768P |
probably damaging |
Het |
| Rbm5 |
A |
T |
9: 107,622,152 (GRCm39) |
D607E |
probably benign |
Het |
| Reep6 |
T |
A |
10: 80,169,393 (GRCm39) |
V131E |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,832,099 (GRCm39) |
I23F |
probably damaging |
Het |
| Rubcn |
A |
T |
16: 32,663,481 (GRCm39) |
V385D |
probably benign |
Het |
| Sall2 |
C |
T |
14: 52,552,124 (GRCm39) |
G357D |
possibly damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,174,881 (GRCm39) |
L547H |
probably damaging |
Het |
| Slc16a6 |
T |
C |
11: 109,354,322 (GRCm39) |
T100A |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,800,535 (GRCm39) |
L2250P |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,876,901 (GRCm39) |
A808T |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,810,151 (GRCm39) |
T785A |
probably benign |
Het |
| Stambpl1 |
T |
G |
19: 34,211,535 (GRCm39) |
S199A |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,928,654 (GRCm39) |
S319R |
probably damaging |
Het |
| Supt20 |
C |
T |
3: 54,623,015 (GRCm39) |
S496L |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,196 (GRCm39) |
F518L |
probably damaging |
Het |
| Tdpoz3 |
T |
A |
3: 93,734,156 (GRCm39) |
V277D |
probably benign |
Het |
| Unc45a |
A |
C |
7: 79,975,403 (GRCm39) |
Y934D |
probably damaging |
Het |
| Vmn1r192 |
G |
A |
13: 22,372,119 (GRCm39) |
P34S |
probably benign |
Het |
| Wipf3 |
T |
C |
6: 54,466,004 (GRCm39) |
S421P |
possibly damaging |
Het |
| Zfp296 |
A |
G |
7: 19,314,227 (GRCm39) |
K361E |
possibly damaging |
Het |
| Zfp882 |
T |
A |
8: 72,667,915 (GRCm39) |
N247K |
probably benign |
Het |
| Zfpm2 |
A |
G |
15: 40,965,710 (GRCm39) |
T732A |
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 |
|
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 |
|
R9448:Adcy1
|
UTSW |
11 |
7,099,575 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- TCCGAGTTCTGAAAAGCAGG -3'
(R):5'- TCCTGAAGCTGGTGGTACTG -3'
Sequencing Primer
(F):5'- TTCTGAAAAGCAGGTAAGGACTACTG -3'
(R):5'- AAGCTGGTGGTACTGTGAAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation