Incidental Mutation 'R7529:Adcy1'
ID |
583206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy1
|
Ensembl Gene |
ENSMUSG00000020431 |
Gene Name |
adenylate cyclase 1 |
Synonyms |
AC1, I-AC, D11Bwg1392e |
MMRRC Submission |
045601-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7529 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
7013489-7128506 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 7089157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 524
(S524P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020706]
|
AlphaFold |
O88444 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020706
AA Change: S524P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020706 Gene: ENSMUSG00000020431 AA Change: S524P
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 |
0.3171 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (79/79) |
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 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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
T |
A |
7: 127,836,336 (GRCm39) |
K86* |
probably null |
Het |
Ablim3 |
A |
C |
18: 61,955,039 (GRCm39) |
S317A |
probably benign |
Het |
Agps |
C |
A |
2: 75,662,696 (GRCm39) |
A47E |
possibly damaging |
Het |
Arhgef15 |
G |
T |
11: 68,844,848 (GRCm39) |
R250S |
probably damaging |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Atoh8 |
G |
T |
6: 72,200,825 (GRCm39) |
D288E |
probably benign |
Het |
B3galt2 |
A |
C |
1: 143,522,274 (GRCm39) |
K137Q |
probably benign |
Het |
Cacna2d4 |
G |
A |
6: 119,247,727 (GRCm39) |
V343I |
probably benign |
Het |
Cage1 |
T |
C |
13: 38,209,731 (GRCm39) |
N82S |
possibly damaging |
Het |
Cep350 |
A |
G |
1: 155,737,669 (GRCm39) |
S2725P |
probably benign |
Het |
Cfap65 |
T |
C |
1: 74,965,769 (GRCm39) |
N414D |
probably damaging |
Het |
Cgnl1 |
A |
C |
9: 71,539,040 (GRCm39) |
L1154R |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,233,942 (GRCm39) |
M382K |
probably benign |
Het |
Dchs2 |
G |
A |
3: 83,261,705 (GRCm39) |
V2658M |
possibly damaging |
Het |
Dlgap5 |
T |
C |
14: 47,653,876 (GRCm39) |
N51S |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,940,692 (GRCm39) |
|
probably null |
Het |
Dnal1 |
A |
G |
12: 84,178,117 (GRCm39) |
I35V |
probably benign |
Het |
Dtnbp1 |
A |
G |
13: 45,084,546 (GRCm39) |
F198S |
probably damaging |
Het |
Edar |
A |
T |
10: 58,447,830 (GRCm39) |
S160T |
probably benign |
Het |
Enpp3 |
A |
T |
10: 24,674,072 (GRCm39) |
N409K |
probably damaging |
Het |
Ercc6 |
T |
A |
14: 32,282,686 (GRCm39) |
C726* |
probably null |
Het |
Extl2 |
G |
A |
3: 115,821,055 (GRCm39) |
V301I |
possibly damaging |
Het |
G2e3 |
A |
G |
12: 51,418,387 (GRCm39) |
Q594R |
probably damaging |
Het |
Gal3st2c |
A |
G |
1: 93,937,039 (GRCm39) |
N328S |
probably benign |
Het |
Galnt17 |
A |
G |
5: 131,335,218 (GRCm39) |
V74A |
probably damaging |
Het |
Ggta1 |
A |
G |
2: 35,304,256 (GRCm39) |
W76R |
probably damaging |
Het |
Gm9772 |
T |
A |
17: 22,226,140 (GRCm39) |
D48V |
probably benign |
Het |
Herpud2 |
T |
C |
9: 25,020,193 (GRCm39) |
T388A |
probably damaging |
Het |
Ighv5-9-1 |
A |
G |
12: 113,699,954 (GRCm39) |
S53P |
possibly damaging |
Het |
Il23r |
T |
A |
6: 67,467,720 (GRCm39) |
M16L |
possibly damaging |
Het |
Ints1 |
G |
A |
5: 139,753,481 (GRCm39) |
A717V |
possibly damaging |
Het |
Itpr2 |
A |
T |
6: 146,096,096 (GRCm39) |
L2122Q |
probably damaging |
Het |
Klrg2 |
A |
T |
6: 38,607,266 (GRCm39) |
V248E |
probably damaging |
Het |
Krtap5-5 |
A |
G |
7: 141,783,429 (GRCm39) |
C74R |
unknown |
Het |
Luzp1 |
G |
T |
4: 136,268,243 (GRCm39) |
L155F |
probably damaging |
Het |
Mcam |
T |
C |
9: 44,050,192 (GRCm39) |
V209A |
probably benign |
Het |
Med1 |
G |
C |
11: 98,046,791 (GRCm39) |
T1335R |
unknown |
Het |
Mroh2b |
A |
G |
15: 4,978,491 (GRCm39) |
I1346V |
probably damaging |
Het |
Mrpl4 |
C |
G |
9: 20,918,975 (GRCm39) |
Q201E |
probably benign |
Het |
Muc21 |
A |
T |
17: 35,930,123 (GRCm39) |
S1354R |
unknown |
Het |
Mylk2 |
T |
C |
2: 152,757,624 (GRCm39) |
L326P |
probably damaging |
Het |
Myot |
A |
T |
18: 44,479,240 (GRCm39) |
R326* |
probably null |
Het |
Nox3 |
T |
A |
17: 3,722,050 (GRCm39) |
R288S |
probably damaging |
Het |
Nox4 |
A |
T |
7: 87,044,976 (GRCm39) |
Y572F |
unknown |
Het |
Or2v2 |
A |
G |
11: 49,003,686 (GRCm39) |
L289P |
probably damaging |
Het |
Or5an10 |
A |
G |
19: 12,276,086 (GRCm39) |
S137P |
probably damaging |
Het |
Pcdhb15 |
G |
T |
18: 37,607,526 (GRCm39) |
E253* |
probably null |
Het |
Plcb2 |
T |
C |
2: 118,540,715 (GRCm39) |
H1052R |
probably damaging |
Het |
Plpp5 |
A |
T |
8: 26,214,233 (GRCm39) |
Q250L |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,326,179 (GRCm39) |
Y38H |
probably benign |
Het |
Pnpla8 |
A |
G |
12: 44,329,963 (GRCm39) |
K172E |
probably benign |
Het |
Pramel23 |
T |
C |
4: 143,429,244 (GRCm39) |
|
|
Het |
Prl8a9 |
T |
A |
13: 27,744,511 (GRCm39) |
D110V |
probably benign |
Het |
Prrx1 |
T |
C |
1: 163,081,533 (GRCm39) |
|
probably null |
Het |
Prss52 |
T |
A |
14: 64,347,037 (GRCm39) |
H70Q |
probably benign |
Het |
Rcc1 |
T |
C |
4: 132,061,874 (GRCm39) |
T300A |
probably benign |
Het |
Rnf114 |
T |
C |
2: 167,349,014 (GRCm39) |
V64A |
possibly damaging |
Het |
Rnf168 |
T |
C |
16: 32,117,732 (GRCm39) |
I431T |
probably damaging |
Het |
Rnmt |
A |
G |
18: 68,444,726 (GRCm39) |
M232V |
probably benign |
Het |
Rrs1 |
A |
C |
1: 9,616,417 (GRCm39) |
Q223H |
probably benign |
Het |
Scyl3 |
A |
T |
1: 163,771,438 (GRCm39) |
L261F |
probably damaging |
Het |
Slc24a4 |
A |
T |
12: 102,230,707 (GRCm39) |
T533S |
probably benign |
Het |
Slc26a2 |
A |
G |
18: 61,331,430 (GRCm39) |
L667P |
probably damaging |
Het |
Snrnp40 |
T |
A |
4: 130,278,275 (GRCm39) |
V260D |
possibly damaging |
Het |
Snrpa |
A |
C |
7: 26,888,878 (GRCm39) |
M174R |
probably benign |
Het |
Ss18l1 |
C |
T |
2: 179,699,950 (GRCm39) |
A270V |
possibly damaging |
Het |
Stk19 |
G |
T |
17: 35,043,632 (GRCm39) |
Q193K |
probably benign |
Het |
Syne1 |
T |
A |
10: 5,374,382 (GRCm39) |
I142L |
probably damaging |
Het |
Tbx2 |
T |
C |
11: 85,731,727 (GRCm39) |
S675P |
probably benign |
Het |
Tcaf1 |
A |
G |
6: 42,652,289 (GRCm39) |
I731T |
probably damaging |
Het |
Tg |
G |
T |
15: 66,566,617 (GRCm39) |
G1222W |
probably damaging |
Het |
Tsc2 |
A |
G |
17: 24,816,922 (GRCm39) |
F1581L |
probably damaging |
Het |
Ubr4 |
G |
C |
4: 139,149,728 (GRCm39) |
V520L |
probably benign |
Het |
Wls |
A |
T |
3: 159,578,644 (GRCm39) |
N69Y |
probably benign |
Het |
Wnk2 |
A |
G |
13: 49,254,457 (GRCm39) |
F353L |
possibly damaging |
Het |
Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
Zfp64 |
C |
T |
2: 168,735,992 (GRCm39) |
G562R |
probably benign |
Het |
Zfp663 |
T |
G |
2: 165,194,728 (GRCm39) |
E497A |
probably damaging |
Het |
Zfp995 |
A |
T |
17: 22,099,333 (GRCm39) |
C300* |
probably null |
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 |
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'- GAAGTCTTCCTTGCTGGGTAC -3'
(R):5'- TGTGTCAGCTCAAGAACTCC -3'
Sequencing Primer
(F):5'- TACCTGGTAGATCCCTGGGTAC -3'
(R):5'- TAGCCACATAATAGGCTTTCCAGG -3'
|
Posted On |
2019-10-17 |