Incidental Mutation 'R4082:Adcy1'
ID |
316947 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy1
|
Ensembl Gene |
ENSMUSG00000020431 |
Gene Name |
adenylate cyclase 1 |
Synonyms |
AC1, I-AC, D11Bwg1392e |
MMRRC Submission |
041624-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4082 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
7013489-7128506 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 7014117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 173
(Y173S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020706]
|
AlphaFold |
O88444 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020706
AA Change: Y173S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020706 Gene: ENSMUSG00000020431 AA Change: Y173S
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 |
0.6385 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
99% (73/74) |
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 |
1700021P04Rik |
T |
G |
19: 24,043,366 (GRCm39) |
|
noncoding transcript |
Het |
a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
Abca12 |
G |
T |
1: 71,306,622 (GRCm39) |
T2028K |
possibly damaging |
Het |
Abt1 |
T |
C |
13: 23,606,316 (GRCm39) |
T213A |
probably benign |
Het |
Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
Akr1d1 |
G |
A |
6: 37,534,424 (GRCm39) |
V193M |
probably damaging |
Het |
Cars1 |
C |
T |
7: 143,123,234 (GRCm39) |
E461K |
probably damaging |
Het |
Ccdc80 |
T |
C |
16: 44,943,290 (GRCm39) |
L800P |
probably damaging |
Het |
Ccl22 |
A |
G |
8: 95,473,536 (GRCm39) |
Y27C |
probably damaging |
Het |
Cdc123 |
G |
A |
2: 5,815,566 (GRCm39) |
|
probably benign |
Het |
Cldn11 |
A |
T |
3: 31,217,278 (GRCm39) |
I149F |
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,300,429 (GRCm39) |
Y986H |
unknown |
Het |
Col6a3 |
G |
A |
1: 90,749,605 (GRCm39) |
L410F |
probably damaging |
Het |
Crocc |
T |
C |
4: 140,761,282 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
G |
2: 13,433,374 (GRCm39) |
|
probably benign |
Het |
Cwc25 |
G |
T |
11: 97,644,744 (GRCm39) |
Q205K |
probably benign |
Het |
Cyp2e1 |
T |
C |
7: 140,350,991 (GRCm39) |
I321T |
possibly damaging |
Het |
Eps8l1 |
T |
A |
7: 4,473,797 (GRCm39) |
|
probably null |
Het |
Fasl |
C |
T |
1: 161,609,420 (GRCm39) |
V189M |
probably damaging |
Het |
Fbxw5 |
T |
C |
2: 25,394,643 (GRCm39) |
|
probably null |
Het |
Flg2 |
A |
C |
3: 93,110,828 (GRCm39) |
E952A |
unknown |
Het |
Gpd1l |
A |
T |
9: 114,746,146 (GRCm39) |
L90Q |
probably damaging |
Het |
Grik4 |
G |
T |
9: 42,509,180 (GRCm39) |
F414L |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klhl3 |
C |
T |
13: 58,166,611 (GRCm39) |
G407S |
probably null |
Het |
Lmbr1 |
T |
C |
5: 29,463,753 (GRCm39) |
E157G |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,343,617 (GRCm39) |
H914L |
probably damaging |
Het |
Mrpl20 |
A |
T |
4: 155,892,970 (GRCm39) |
D67V |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,378,022 (GRCm39) |
T1346A |
possibly damaging |
Het |
Naip5 |
A |
T |
13: 100,382,338 (GRCm39) |
C124S |
probably damaging |
Het |
Or10ag2 |
T |
A |
2: 87,248,801 (GRCm39) |
Y134* |
probably null |
Het |
Or13n4 |
T |
C |
7: 106,423,245 (GRCm39) |
T163A |
possibly damaging |
Het |
Or52u1 |
T |
A |
7: 104,237,830 (GRCm39) |
V290D |
probably damaging |
Het |
Osbp |
A |
G |
19: 11,956,030 (GRCm39) |
D385G |
probably benign |
Het |
Paip1 |
G |
A |
13: 119,593,540 (GRCm39) |
D460N |
probably damaging |
Het |
Pde3b |
T |
C |
7: 114,093,823 (GRCm39) |
S356P |
probably benign |
Het |
Pms2 |
A |
G |
5: 143,867,837 (GRCm39) |
M814V |
probably damaging |
Het |
Polg |
C |
A |
7: 79,114,576 (GRCm39) |
K128N |
probably damaging |
Het |
Polk |
G |
T |
13: 96,620,181 (GRCm39) |
T694K |
probably benign |
Het |
Pom121 |
T |
C |
5: 135,417,491 (GRCm39) |
K342R |
unknown |
Het |
Pou5f2 |
T |
C |
13: 78,174,024 (GRCm39) |
L322P |
probably damaging |
Het |
Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
Ptpn6 |
T |
C |
6: 124,705,382 (GRCm39) |
D183G |
probably damaging |
Het |
Pygb |
G |
A |
2: 150,668,391 (GRCm39) |
|
probably null |
Het |
Ralgds |
C |
T |
2: 28,442,283 (GRCm39) |
|
probably benign |
Het |
Ret |
T |
C |
6: 118,130,927 (GRCm39) |
T1079A |
possibly damaging |
Het |
Rspo2 |
A |
C |
15: 42,885,933 (GRCm39) |
V241G |
probably benign |
Het |
Smg1 |
T |
A |
7: 117,759,469 (GRCm39) |
|
probably benign |
Het |
Snph |
T |
C |
2: 151,435,722 (GRCm39) |
D402G |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
Sufu |
A |
G |
19: 46,413,541 (GRCm39) |
M141V |
probably damaging |
Het |
Sytl2 |
T |
A |
7: 90,057,635 (GRCm39) |
V831D |
possibly damaging |
Het |
Tc2n |
T |
C |
12: 101,617,414 (GRCm39) |
E335G |
possibly damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tmcc1 |
T |
A |
6: 116,020,441 (GRCm39) |
H118L |
probably damaging |
Het |
Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
Vmn1r209 |
A |
C |
13: 22,989,785 (GRCm39) |
L302V |
probably null |
Het |
Vmn2r117 |
C |
T |
17: 23,679,080 (GRCm39) |
V715I |
probably benign |
Het |
Vopp1 |
A |
T |
6: 57,766,964 (GRCm39) |
Y37* |
probably null |
Het |
Xrn1 |
A |
G |
9: 95,863,973 (GRCm39) |
T528A |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,302,662 (GRCm39) |
D1774G |
probably benign |
Het |
Zfp955b |
T |
A |
17: 33,521,129 (GRCm39) |
D199E |
probably benign |
Het |
Zp2 |
T |
C |
7: 119,734,475 (GRCm39) |
S525G |
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 |
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 |
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'- TGTTCGTGGTCACCAATGTC -3'
(R):5'- GTTAAACTCCTGCCACCTCCAG -3'
Sequencing Primer
(F):5'- GTGGTCACCAATGTCCGATC -3'
(R):5'- TGCCACCTCCAGTGCTG -3'
|
Posted On |
2015-05-15 |