Incidental Mutation 'R5894:Adcy2'
| ID |
457408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy2
|
| Ensembl Gene |
ENSMUSG00000021536 |
| Gene Name |
adenylate cyclase 2 |
| Synonyms |
|
| MMRRC Submission |
043238-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5894 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68773971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1024
(I1024N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022013]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022013
AA Change: I1024N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: I1024N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
|
CYCc
|
239 |
447 |
6.62e-66 |
SMART |
|
Pfam:DUF1053
|
499 |
604 |
2.6e-41 |
PFAM |
|
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
673 |
N/A |
INTRINSIC |
|
transmembrane domain
|
684 |
706 |
N/A |
INTRINSIC |
|
transmembrane domain
|
738 |
760 |
N/A |
INTRINSIC |
|
transmembrane domain
|
767 |
789 |
N/A |
INTRINSIC |
|
transmembrane domain
|
809 |
826 |
N/A |
INTRINSIC |
|
CYCc
|
851 |
1065 |
5.49e-40 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
| 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 family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
A |
3: 146,356,680 (GRCm39) |
E76V |
probably benign |
Het |
| Agr2 |
A |
C |
12: 36,045,509 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
T |
A |
18: 65,414,143 (GRCm39) |
H1991L |
probably damaging |
Het |
| Amotl2 |
T |
A |
9: 102,602,371 (GRCm39) |
M448K |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,780,577 (GRCm39) |
F1876L |
probably damaging |
Het |
| Arl14 |
T |
C |
3: 69,130,009 (GRCm39) |
V52A |
probably benign |
Het |
| Atp6v1b2 |
T |
A |
8: 69,560,218 (GRCm39) |
|
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,724,732 (GRCm39) |
T409A |
possibly damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,782,852 (GRCm39) |
R19H |
possibly damaging |
Het |
| Cdh9 |
T |
A |
15: 16,832,186 (GRCm39) |
L358I |
possibly damaging |
Het |
| Ces2h |
T |
G |
8: 105,745,658 (GRCm39) |
I460M |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,272,006 (GRCm39) |
Y507H |
probably benign |
Het |
| Crlf3 |
T |
A |
11: 79,948,678 (GRCm39) |
R256W |
probably damaging |
Het |
| Csdc2 |
T |
A |
15: 81,832,881 (GRCm39) |
F96I |
probably damaging |
Het |
| Csk |
A |
C |
9: 57,535,958 (GRCm39) |
I264S |
probably damaging |
Het |
| Cyp2c29 |
G |
C |
19: 39,318,833 (GRCm39) |
A438P |
possibly damaging |
Het |
| Ddx43 |
G |
A |
9: 78,324,016 (GRCm39) |
G449D |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,529,235 (GRCm39) |
A106E |
possibly damaging |
Het |
| Fchsd2 |
C |
T |
7: 100,840,959 (GRCm39) |
T156I |
probably benign |
Het |
| Frs2 |
T |
A |
10: 116,917,011 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
C |
T |
3: 36,074,124 (GRCm39) |
E342K |
possibly damaging |
Het |
| Grid2ip |
A |
T |
5: 143,374,666 (GRCm39) |
T922S |
probably damaging |
Het |
| Grm1 |
A |
G |
10: 10,955,999 (GRCm39) |
L95P |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,252,893 (GRCm39) |
V348A |
possibly damaging |
Het |
| Insr |
A |
G |
8: 3,224,869 (GRCm39) |
S200P |
possibly damaging |
Het |
| Ints12 |
A |
T |
3: 132,804,319 (GRCm39) |
D102V |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,401,564 (GRCm39) |
D1057G |
probably damaging |
Het |
| Kng1 |
T |
A |
16: 22,892,113 (GRCm39) |
D225E |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,086,042 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
A |
G |
17: 71,553,929 (GRCm39) |
D882G |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,388,233 (GRCm39) |
F464Y |
probably benign |
Het |
| Musk |
G |
A |
4: 58,373,583 (GRCm39) |
C836Y |
probably damaging |
Het |
| Mx1 |
C |
T |
16: 97,255,406 (GRCm39) |
D216N |
probably damaging |
Het |
| Ndrg3 |
A |
T |
2: 156,770,698 (GRCm39) |
N350K |
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,895,019 (GRCm39) |
P990L |
probably damaging |
Het |
| Or4c111 |
T |
A |
2: 88,844,399 (GRCm39) |
N3I |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,647,557 (GRCm39) |
S296P |
possibly damaging |
Het |
| Or6c2 |
A |
G |
10: 129,362,357 (GRCm39) |
D87G |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,721,092 (GRCm39) |
L369P |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,231,088 (GRCm39) |
T57A |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,098,755 (GRCm39) |
T1420S |
possibly damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,743,798 (GRCm39) |
F201S |
probably damaging |
Het |
| Rnf214 |
A |
G |
9: 45,777,916 (GRCm39) |
V630A |
probably damaging |
Het |
| Rxrb |
T |
A |
17: 34,254,718 (GRCm39) |
I181N |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,939,581 (GRCm39) |
N69S |
probably damaging |
Het |
| Scyl2 |
A |
G |
10: 89,476,681 (GRCm39) |
S815P |
probably benign |
Het |
| Sgcd |
A |
G |
11: 47,246,028 (GRCm39) |
V58A |
probably damaging |
Het |
| Slc13a3 |
C |
T |
2: 165,266,543 (GRCm39) |
V374I |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,888,341 (GRCm39) |
I229N |
probably benign |
Het |
| Slc44a5 |
A |
G |
3: 153,962,210 (GRCm39) |
Y381C |
probably damaging |
Het |
| Sohlh1 |
A |
G |
2: 25,734,679 (GRCm39) |
S205P |
possibly damaging |
Het |
| Spata20 |
T |
C |
11: 94,374,444 (GRCm39) |
M308V |
probably damaging |
Het |
| Stag3 |
T |
G |
5: 138,297,100 (GRCm39) |
I550R |
probably damaging |
Het |
| Tac2 |
A |
G |
10: 127,561,971 (GRCm39) |
E25G |
possibly damaging |
Het |
| Tars2 |
T |
C |
3: 95,654,964 (GRCm39) |
|
probably null |
Het |
| Tefm |
G |
A |
11: 80,031,057 (GRCm39) |
R60C |
probably damaging |
Het |
| Trem3 |
T |
C |
17: 48,565,483 (GRCm39) |
V179A |
probably benign |
Het |
| Trim37 |
G |
T |
11: 87,092,266 (GRCm39) |
D692Y |
probably damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,508,133 (GRCm39) |
T173A |
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,600,486 (GRCm39) |
|
probably null |
Het |
| Usp18 |
A |
G |
6: 121,238,456 (GRCm39) |
K201R |
probably benign |
Het |
| Usp35 |
T |
A |
7: 96,962,284 (GRCm39) |
Y524F |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,752,734 (GRCm39) |
F208L |
probably damaging |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,654 (GRCm39) |
I255F |
probably damaging |
Het |
| Vstm2a |
A |
T |
11: 16,211,483 (GRCm39) |
I98F |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,855,317 (GRCm39) |
I766F |
possibly damaging |
Het |
| Wdr17 |
T |
A |
8: 55,149,335 (GRCm39) |
Y55F |
probably damaging |
Het |
| Xpot |
T |
C |
10: 121,449,551 (GRCm39) |
K172R |
probably damaging |
Het |
|
| Other mutations in Adcy2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00923:Adcy2
|
APN |
13 |
68,768,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01074:Adcy2
|
APN |
13 |
68,944,773 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01394:Adcy2
|
APN |
13 |
69,130,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01820:Adcy2
|
APN |
13 |
68,886,664 (GRCm39) |
splice site |
probably null |
|
|
IGL02048:Adcy2
|
APN |
13 |
69,036,186 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02378:Adcy2
|
APN |
13 |
68,878,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02419:Adcy2
|
APN |
13 |
69,130,482 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02896:Adcy2
|
APN |
13 |
68,875,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02953:Adcy2
|
APN |
13 |
68,877,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03358:Adcy2
|
APN |
13 |
68,877,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03387:Adcy2
|
APN |
13 |
68,878,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Adcy2
|
UTSW |
13 |
68,826,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4366001:Adcy2
|
UTSW |
13 |
68,858,109 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0044:Adcy2
|
UTSW |
13 |
68,876,018 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0044:Adcy2
|
UTSW |
13 |
68,876,018 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0083:Adcy2
|
UTSW |
13 |
68,800,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0108:Adcy2
|
UTSW |
13 |
68,800,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0269:Adcy2
|
UTSW |
13 |
68,826,725 (GRCm39) |
nonsense |
probably null |
|
|
R0369:Adcy2
|
UTSW |
13 |
68,820,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0480:Adcy2
|
UTSW |
13 |
68,880,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Adcy2
|
UTSW |
13 |
69,130,480 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0551:Adcy2
|
UTSW |
13 |
68,944,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Adcy2
|
UTSW |
13 |
68,826,725 (GRCm39) |
nonsense |
probably null |
|
|
R0634:Adcy2
|
UTSW |
13 |
68,876,064 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0715:Adcy2
|
UTSW |
13 |
69,036,161 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0723:Adcy2
|
UTSW |
13 |
69,147,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1136:Adcy2
|
UTSW |
13 |
68,878,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1271:Adcy2
|
UTSW |
13 |
68,790,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1349:Adcy2
|
UTSW |
13 |
68,816,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1372:Adcy2
|
UTSW |
13 |
68,816,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1390:Adcy2
|
UTSW |
13 |
68,805,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1495:Adcy2
|
UTSW |
13 |
68,944,654 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1706:Adcy2
|
UTSW |
13 |
68,868,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Adcy2
|
UTSW |
13 |
68,837,380 (GRCm39) |
splice site |
probably null |
|
|
R2004:Adcy2
|
UTSW |
13 |
68,944,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2235:Adcy2
|
UTSW |
13 |
68,816,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2242:Adcy2
|
UTSW |
13 |
68,837,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2940:Adcy2
|
UTSW |
13 |
68,878,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3624:Adcy2
|
UTSW |
13 |
68,790,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3689:Adcy2
|
UTSW |
13 |
68,779,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4685:Adcy2
|
UTSW |
13 |
68,876,024 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4695:Adcy2
|
UTSW |
13 |
68,875,962 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5213:Adcy2
|
UTSW |
13 |
68,768,942 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5645:Adcy2
|
UTSW |
13 |
68,877,321 (GRCm39) |
splice site |
probably null |
|
|
R5687:Adcy2
|
UTSW |
13 |
68,790,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5687:Adcy2
|
UTSW |
13 |
68,768,938 (GRCm39) |
nonsense |
probably null |
|
|
R5833:Adcy2
|
UTSW |
13 |
68,886,722 (GRCm39) |
missense |
probably benign |
|
|
R5846:Adcy2
|
UTSW |
13 |
68,886,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6111:Adcy2
|
UTSW |
13 |
68,877,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6311:Adcy2
|
UTSW |
13 |
68,773,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6642:Adcy2
|
UTSW |
13 |
68,768,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6644:Adcy2
|
UTSW |
13 |
68,816,671 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6899:Adcy2
|
UTSW |
13 |
69,130,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6917:Adcy2
|
UTSW |
13 |
68,768,876 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6950:Adcy2
|
UTSW |
13 |
69,036,184 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7006:Adcy2
|
UTSW |
13 |
69,036,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Adcy2
|
UTSW |
13 |
68,816,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Adcy2
|
UTSW |
13 |
68,779,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Adcy2
|
UTSW |
13 |
68,882,794 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7440:Adcy2
|
UTSW |
13 |
68,944,786 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7463:Adcy2
|
UTSW |
13 |
68,878,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7827:Adcy2
|
UTSW |
13 |
68,837,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7919:Adcy2
|
UTSW |
13 |
69,036,091 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8144:Adcy2
|
UTSW |
13 |
68,882,754 (GRCm39) |
nonsense |
probably null |
|
|
R8256:Adcy2
|
UTSW |
13 |
68,768,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8556:Adcy2
|
UTSW |
13 |
68,779,094 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9121:Adcy2
|
UTSW |
13 |
68,820,078 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9128:Adcy2
|
UTSW |
13 |
68,773,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Adcy2
|
UTSW |
13 |
69,036,199 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9464:Adcy2
|
UTSW |
13 |
68,882,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Adcy2
|
UTSW |
13 |
68,773,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9799:Adcy2
|
UTSW |
13 |
68,805,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9799:Adcy2
|
UTSW |
13 |
68,768,961 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTGGTGTCATTCCTAACAG -3'
(R):5'- ATAAAGTTGGAGTTGCTCTGGAC -3'
Sequencing Primer
(F):5'- GTTGGTGTCATTCCTAACAGTTAATG -3'
(R):5'- AGTTGCTCTGGACTTTGGAG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation