Incidental Mutation 'R4951:Adcy1'
ID |
381998 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy1
|
Ensembl Gene |
ENSMUSG00000020431 |
Gene Name |
adenylate cyclase 1 |
Synonyms |
AC1, I-AC, D11Bwg1392e |
MMRRC Submission |
042548-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4951 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
7013489-7128506 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 7088336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 452
(E452K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020706]
|
AlphaFold |
O88444 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020706
AA Change: E452K
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000020706 Gene: ENSMUSG00000020431 AA Change: E452K
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 |
0.2753 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
98% (94/96) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
T |
C |
1: 165,391,532 (GRCm39) |
L1263P |
probably damaging |
Het |
Adgrg1 |
G |
A |
8: 95,731,874 (GRCm39) |
V179M |
probably damaging |
Het |
Agap1 |
T |
A |
1: 89,537,225 (GRCm39) |
V77E |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,995,199 (GRCm39) |
K5494N |
probably damaging |
Het |
Arhgap19 |
A |
G |
19: 41,762,545 (GRCm39) |
M437T |
probably benign |
Het |
C2cd4c |
C |
A |
10: 79,448,839 (GRCm39) |
A103S |
possibly damaging |
Het |
Clip1 |
A |
T |
5: 123,768,408 (GRCm39) |
D776E |
probably benign |
Het |
Cntn3 |
C |
T |
6: 102,145,986 (GRCm39) |
V952M |
possibly damaging |
Het |
Col6a6 |
A |
G |
9: 105,644,397 (GRCm39) |
|
probably null |
Het |
Crtac1 |
C |
T |
19: 42,402,570 (GRCm39) |
A13T |
probably benign |
Het |
Ddx50 |
C |
T |
10: 62,469,899 (GRCm39) |
A363T |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,890,547 (GRCm39) |
V241A |
probably benign |
Het |
Dysf |
T |
C |
6: 84,091,102 (GRCm39) |
|
probably null |
Het |
Enpp3 |
A |
T |
10: 24,674,175 (GRCm39) |
M375K |
probably damaging |
Het |
Fam13c |
G |
A |
10: 70,387,621 (GRCm39) |
|
probably null |
Het |
Ftcd |
C |
T |
10: 76,420,517 (GRCm39) |
A417V |
probably benign |
Het |
Gak |
A |
G |
5: 108,730,584 (GRCm39) |
S941P |
probably benign |
Het |
Ganc |
A |
G |
2: 120,286,528 (GRCm39) |
T786A |
probably benign |
Het |
Gfi1 |
A |
C |
5: 107,868,009 (GRCm39) |
S420A |
probably damaging |
Het |
Ghsr |
A |
T |
3: 27,426,510 (GRCm39) |
T189S |
possibly damaging |
Het |
Glb1l |
C |
T |
1: 75,185,019 (GRCm39) |
G122D |
probably damaging |
Het |
Gm10065 |
C |
T |
13: 21,663,421 (GRCm39) |
S64N |
unknown |
Het |
Gm5087 |
C |
A |
14: 13,158,749 (GRCm38) |
|
noncoding transcript |
Het |
Gm973 |
G |
A |
1: 59,580,633 (GRCm39) |
|
probably null |
Het |
Gm9930 |
A |
T |
10: 9,410,449 (GRCm39) |
|
noncoding transcript |
Het |
H6pd |
A |
T |
4: 150,066,044 (GRCm39) |
Y781N |
probably damaging |
Het |
Ide |
G |
A |
19: 37,262,631 (GRCm39) |
L695F |
unknown |
Het |
Il17re |
T |
A |
6: 113,445,868 (GRCm39) |
V393E |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,759,621 (GRCm39) |
V205A |
probably benign |
Het |
Lipo5 |
C |
T |
19: 33,446,251 (GRCm39) |
E49K |
probably damaging |
Het |
Lonp1 |
A |
T |
17: 56,927,335 (GRCm39) |
M306K |
possibly damaging |
Het |
Lrig1 |
A |
G |
6: 94,640,959 (GRCm39) |
L82P |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,366,332 (GRCm39) |
C256S |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,568,935 (GRCm39) |
I1262K |
unknown |
Het |
Mctp1 |
C |
T |
13: 76,975,894 (GRCm39) |
P756S |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,707,459 (GRCm39) |
W1583R |
probably damaging |
Het |
Mis12 |
T |
A |
11: 70,916,473 (GRCm39) |
Y169N |
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Msh5 |
G |
A |
17: 35,257,396 (GRCm39) |
Q333* |
probably null |
Het |
Necap2 |
A |
T |
4: 140,799,834 (GRCm39) |
|
probably null |
Het |
Nfatc2 |
T |
C |
2: 168,412,992 (GRCm39) |
D211G |
probably damaging |
Het |
Nlrx1 |
A |
G |
9: 44,164,726 (GRCm39) |
V906A |
possibly damaging |
Het |
Or2ak7 |
G |
A |
11: 58,575,589 (GRCm39) |
V297I |
probably damaging |
Het |
Or4a2 |
T |
A |
2: 89,248,116 (GRCm39) |
I214F |
probably benign |
Het |
Or4l1 |
A |
T |
14: 50,166,515 (GRCm39) |
L162* |
probably null |
Het |
Or5b125-ps1 |
A |
T |
19: 13,056,620 (GRCm39) |
|
noncoding transcript |
Het |
Or8g24 |
A |
G |
9: 38,989,555 (GRCm39) |
F162S |
probably benign |
Het |
Pate5 |
A |
G |
9: 35,750,732 (GRCm39) |
V30A |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,397,287 (GRCm39) |
N2057K |
possibly damaging |
Het |
Ppip5k2 |
T |
C |
1: 97,639,474 (GRCm39) |
K1078R |
possibly damaging |
Het |
Prdm11 |
A |
G |
2: 92,810,954 (GRCm39) |
I215T |
probably damaging |
Het |
Ptpn13 |
C |
T |
5: 103,735,912 (GRCm39) |
P2137L |
probably benign |
Het |
Rif1 |
T |
A |
2: 51,974,998 (GRCm39) |
|
probably null |
Het |
Rnf17 |
T |
C |
14: 56,759,848 (GRCm39) |
V1551A |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,271,183 (GRCm39) |
V391I |
probably benign |
Het |
Rps6ka2 |
A |
T |
17: 7,560,188 (GRCm39) |
D542V |
probably damaging |
Het |
Sema4g |
A |
G |
19: 44,985,010 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
T |
G |
13: 33,850,366 (GRCm39) |
S64R |
probably benign |
Het |
Serpine1 |
C |
T |
5: 137,098,205 (GRCm39) |
R156K |
probably benign |
Het |
Setdb2 |
A |
G |
14: 59,639,752 (GRCm39) |
I713T |
possibly damaging |
Het |
Slamf7 |
A |
G |
1: 171,466,693 (GRCm39) |
F171L |
probably benign |
Het |
Slc15a5 |
A |
G |
6: 138,050,064 (GRCm39) |
L117S |
probably damaging |
Het |
Slc8a3 |
T |
A |
12: 81,362,760 (GRCm39) |
T20S |
probably damaging |
Het |
Slc8a3 |
T |
A |
12: 81,361,473 (GRCm39) |
T449S |
probably benign |
Het |
Smc2 |
G |
A |
4: 52,462,926 (GRCm39) |
V639M |
possibly damaging |
Het |
Sra1 |
A |
T |
18: 36,809,494 (GRCm39) |
C223* |
probably null |
Het |
Srgap1 |
A |
T |
10: 121,621,457 (GRCm39) |
M1012K |
probably benign |
Het |
Stk-ps2 |
A |
T |
1: 46,068,602 (GRCm39) |
|
noncoding transcript |
Het |
Taar6 |
A |
T |
10: 23,861,106 (GRCm39) |
S147T |
probably benign |
Het |
Taf15 |
G |
A |
11: 83,375,637 (GRCm39) |
G34D |
possibly damaging |
Het |
Tarbp1 |
T |
C |
8: 127,174,184 (GRCm39) |
E874G |
possibly damaging |
Het |
Tob2 |
T |
C |
15: 81,735,924 (GRCm39) |
Y15C |
probably damaging |
Het |
Trim12a |
A |
G |
7: 103,953,565 (GRCm39) |
V182A |
possibly damaging |
Het |
Trim67 |
A |
G |
8: 125,521,406 (GRCm39) |
E256G |
probably benign |
Het |
Trrap |
T |
A |
5: 144,742,530 (GRCm39) |
S1382T |
possibly damaging |
Het |
Ttc39d |
T |
A |
17: 80,523,462 (GRCm39) |
S40R |
probably benign |
Het |
Ttn |
A |
T |
2: 76,779,406 (GRCm39) |
V1158E |
probably benign |
Het |
Vmn1r19 |
C |
T |
6: 57,381,927 (GRCm39) |
T160I |
probably benign |
Het |
Vmn2r100 |
T |
C |
17: 19,752,300 (GRCm39) |
I781T |
probably benign |
Het |
Vmn2r85 |
T |
C |
10: 130,261,113 (GRCm39) |
E408G |
probably damaging |
Het |
Vwde |
T |
C |
6: 13,187,138 (GRCm39) |
D783G |
probably damaging |
Het |
Wdr27 |
A |
T |
17: 15,096,395 (GRCm39) |
D796E |
probably damaging |
Het |
Zfp365 |
C |
T |
10: 67,725,821 (GRCm39) |
|
probably null |
Het |
Zfp9 |
T |
G |
6: 118,441,408 (GRCm39) |
H418P |
probably 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 |
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 |
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'- ATCACTTGGTTTGCCTGGGC -3'
(R):5'- AAGCGAGGACAACTGTTTCTTTAC -3'
Sequencing Primer
(F):5'- CCTTTGAGTTGGAACACAAGTGCTC -3'
(R):5'- TACAACTGTGTTGGACAAAGCTGC -3'
|
Posted On |
2016-04-27 |