Incidental Mutation 'R5943:Adcy1'
| ID |
460435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy1
|
| Ensembl Gene |
ENSMUSG00000020431 |
| Gene Name |
adenylate cyclase 1 |
| Synonyms |
AC1, I-AC, D11Bwg1392e |
| MMRRC Submission |
044135-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5943 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
7013489-7128506 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7111337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 876
(F876S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020706]
|
| AlphaFold |
O88444 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020706
AA Change: F876S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: F876S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135398
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
A |
17: 45,828,637 (GRCm39) |
Q671K |
probably benign |
Het |
| Acaa2 |
A |
G |
18: 74,925,453 (GRCm39) |
H72R |
probably damaging |
Het |
| Acad8 |
A |
G |
9: 26,910,740 (GRCm39) |
L18P |
probably benign |
Het |
| Acap3 |
T |
C |
4: 155,983,879 (GRCm39) |
V115A |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,880,767 (GRCm39) |
T503A |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,534,985 (GRCm39) |
E5760G |
probably damaging |
Het |
| Ankrd26 |
A |
T |
6: 118,482,707 (GRCm39) |
I1631K |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,339,526 (GRCm39) |
T457A |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,306,561 (GRCm39) |
*1160R |
probably null |
Het |
| Cdc6 |
T |
C |
11: 98,811,589 (GRCm39) |
S517P |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,392,166 (GRCm39) |
D555E |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,424,420 (GRCm39) |
T205A |
probably benign |
Het |
| Clcn1 |
T |
A |
6: 42,269,900 (GRCm39) |
I241N |
probably damaging |
Het |
| Clrn2 |
A |
T |
5: 45,621,061 (GRCm39) |
I152F |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,502,737 (GRCm39) |
I349T |
unknown |
Het |
| Coq8b |
T |
A |
7: 26,933,428 (GRCm39) |
F96L |
probably damaging |
Het |
| Cp |
A |
T |
3: 20,018,470 (GRCm39) |
N58I |
probably benign |
Het |
| Dcst1 |
A |
T |
3: 89,263,718 (GRCm39) |
|
probably null |
Het |
| Dhrs3 |
A |
T |
4: 144,646,546 (GRCm39) |
M199L |
possibly damaging |
Het |
| Dido1 |
A |
T |
2: 180,303,675 (GRCm39) |
S1410T |
probably benign |
Het |
| Dnase1l2 |
C |
T |
17: 24,661,721 (GRCm39) |
A13T |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,163,916 (GRCm39) |
R861Q |
probably benign |
Het |
| Eya2 |
A |
G |
2: 165,566,609 (GRCm39) |
H220R |
probably damaging |
Het |
| Fas |
T |
G |
19: 34,297,987 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
T |
A |
6: 23,246,948 (GRCm39) |
K295* |
probably null |
Het |
| Gldn |
T |
G |
9: 54,245,721 (GRCm39) |
I424R |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,269,376 (GRCm39) |
V693A |
probably benign |
Het |
| Gsdma |
A |
T |
11: 98,563,852 (GRCm39) |
T269S |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,460,357 (GRCm39) |
T2209S |
probably benign |
Het |
| Hoxd3 |
A |
G |
2: 74,577,173 (GRCm39) |
N351S |
probably benign |
Het |
| Itpkc |
T |
A |
7: 26,912,404 (GRCm39) |
N581I |
possibly damaging |
Het |
| Kank3 |
G |
T |
17: 34,037,375 (GRCm39) |
E226D |
probably damaging |
Het |
| Krtap5-1 |
A |
G |
7: 141,850,788 (GRCm39) |
S7P |
unknown |
Het |
| Lrriq3 |
A |
G |
3: 154,869,587 (GRCm39) |
Y304C |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,678,330 (GRCm39) |
S653P |
probably damaging |
Het |
| Mri1 |
A |
T |
8: 84,980,948 (GRCm39) |
L194* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,537,302 (GRCm39) |
E138G |
probably benign |
Het |
| Myo3b |
G |
A |
2: 70,117,285 (GRCm39) |
R906Q |
probably benign |
Het |
| Nckipsd |
C |
T |
9: 108,689,435 (GRCm39) |
P199S |
possibly damaging |
Het |
| Or52n5 |
T |
A |
7: 104,587,850 (GRCm39) |
I39N |
possibly damaging |
Het |
| Or9i16 |
C |
T |
19: 13,865,116 (GRCm39) |
V153I |
possibly damaging |
Het |
| Pacsin1 |
T |
C |
17: 27,925,045 (GRCm39) |
L253P |
probably damaging |
Het |
| Pcca |
T |
A |
14: 122,896,188 (GRCm39) |
I268N |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,949,565 (GRCm39) |
D327G |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,626,232 (GRCm39) |
H1146R |
probably damaging |
Het |
| Pnma8b |
T |
C |
7: 16,680,362 (GRCm39) |
S449P |
probably benign |
Het |
| Psmb9 |
T |
C |
17: 34,403,265 (GRCm39) |
E61G |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,721,203 (GRCm39) |
Y101H |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,471,213 (GRCm39) |
I1044T |
probably damaging |
Het |
| Rnf43 |
G |
A |
11: 87,622,561 (GRCm39) |
R554H |
probably damaging |
Het |
| Sp5 |
A |
T |
2: 70,305,659 (GRCm39) |
Q17L |
probably null |
Het |
| Spmip1 |
T |
A |
6: 29,471,908 (GRCm39) |
L128Q |
possibly damaging |
Het |
| Strn |
C |
A |
17: 78,977,276 (GRCm39) |
V211F |
probably damaging |
Het |
| Sult3a1 |
A |
G |
10: 33,742,637 (GRCm39) |
D88G |
probably damaging |
Het |
| Trim14 |
T |
C |
4: 46,522,136 (GRCm39) |
I180M |
probably benign |
Het |
| Tsnax |
C |
A |
8: 125,751,278 (GRCm39) |
S90* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,798,780 (GRCm39) |
M498T |
probably benign |
Het |
| Vmn1r198 |
T |
A |
13: 22,539,367 (GRCm39) |
Y195* |
probably null |
Het |
| Vmn2r70 |
T |
C |
7: 85,215,199 (GRCm39) |
T112A |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,443,137 (GRCm39) |
N32S |
possibly damaging |
Het |
| Yme1l1 |
G |
T |
2: 23,058,342 (GRCm39) |
R158L |
probably damaging |
Het |
| Zc2hc1c |
C |
A |
12: 85,336,483 (GRCm39) |
H47N |
probably damaging |
Het |
| Zc3h10 |
C |
A |
10: 128,381,396 (GRCm39) |
|
probably benign |
Het |
| Zfp825 |
T |
C |
13: 74,629,007 (GRCm39) |
R170G |
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 |
|
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'- ATTACCTGTGGAACCAACTGGG -3'
(R):5'- CAAGATGCTCTGTCCTGGAC -3'
Sequencing Primer
(F):5'- GAACCAACTGGGCCCCTATG -3'
(R):5'- TGGACCCTACTGGAGACACAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation