Incidental Mutation 'R7463:Adcy2'
| ID |
578581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy2
|
| Ensembl Gene |
ENSMUSG00000021536 |
| Gene Name |
adenylate cyclase 2 |
| Synonyms |
|
| MMRRC Submission |
045537-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
68620043-68999541 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68730280 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 413
(D413G)
|
| 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: D413G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: D413G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,323,772 (GRCm38) |
V435E |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,252,531 (GRCm38) |
T8I |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,434,396 (GRCm38) |
D727V |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,637,726 (GRCm38) |
Q309* |
probably null |
Het |
| Amy1 |
A |
T |
3: 113,569,884 (GRCm38) |
C43* |
probably null |
Het |
| Bpifc |
T |
C |
10: 85,979,334 (GRCm38) |
E256G |
probably benign |
Het |
| Bysl |
A |
T |
17: 47,602,471 (GRCm38) |
S296T |
probably benign |
Het |
| Carmil3 |
C |
T |
14: 55,502,396 (GRCm38) |
P980L |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,593,625 (GRCm38) |
M1K |
probably null |
Het |
| Cpt2 |
A |
T |
4: 107,908,157 (GRCm38) |
F137I |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,295,094 (GRCm38) |
I112V |
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,520,476 (GRCm38) |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,713,564 (GRCm38) |
I90F |
probably damaging |
Het |
| Cyp4f16 |
C |
T |
17: 32,550,787 (GRCm38) |
A457V |
possibly damaging |
Het |
| Ddx6 |
A |
G |
9: 44,628,729 (GRCm38) |
E318G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,154,157 (GRCm38) |
E213G |
probably benign |
Het |
| Dlx5 |
T |
C |
6: 6,878,316 (GRCm38) |
H238R |
probably damaging |
Het |
| Dnaic2 |
A |
C |
11: 114,754,406 (GRCm38) |
I556L |
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,912,225 (GRCm38) |
V1147M |
possibly damaging |
Het |
| Egf |
G |
T |
3: 129,740,015 (GRCm38) |
Q59K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,646,262 (GRCm38) |
Y109* |
probably null |
Het |
| Fer1l6 |
T |
A |
15: 58,573,601 (GRCm38) |
Y573* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,193,128 (GRCm38) |
L503P |
probably damaging |
Het |
| Gnptab |
T |
G |
10: 88,431,389 (GRCm38) |
I447M |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,578,450 (GRCm38) |
D253N |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,266,277 (GRCm38) |
|
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,710,645 (GRCm38) |
T958A |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,498 (GRCm38) |
L67Q |
probably damaging |
Het |
| Kif5a |
A |
G |
10: 127,243,724 (GRCm38) |
V248A |
probably damaging |
Het |
| Krt33b |
A |
G |
11: 100,029,563 (GRCm38) |
I88T |
probably damaging |
Het |
| Lhx2 |
G |
A |
2: 38,351,846 (GRCm38) |
E25K |
possibly damaging |
Het |
| Mex3d |
C |
T |
10: 80,381,698 (GRCm38) |
G562R |
|
Het |
| Myom2 |
A |
T |
8: 15,117,679 (GRCm38) |
Y1088F |
probably null |
Het |
| Ncapg |
T |
A |
5: 45,694,092 (GRCm38) |
|
probably null |
Het |
| Nudc |
A |
C |
4: 133,534,403 (GRCm38) |
V190G |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,122,860 (GRCm38) |
R1054S |
probably benign |
Het |
| Olfr1045 |
T |
C |
2: 86,197,838 (GRCm38) |
M305V |
probably benign |
Het |
| Olfr1510 |
A |
G |
14: 52,410,711 (GRCm38) |
W54R |
probably benign |
Het |
| Olfr651 |
T |
C |
7: 104,553,482 (GRCm38) |
S188P |
possibly damaging |
Het |
| Olfr683 |
T |
A |
7: 105,143,937 (GRCm38) |
M119L |
probably benign |
Het |
| Olfr710 |
A |
T |
7: 106,944,173 (GRCm38) |
V276E |
probably damaging |
Het |
| Olfr979 |
A |
G |
9: 40,000,564 (GRCm38) |
V221A |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,383,572 (GRCm38) |
R891S |
possibly damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,631,770 (GRCm38) |
S1873L |
possibly damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,720,998 (GRCm38) |
K632E |
probably benign |
Het |
| Pcdhgb8 |
G |
A |
18: 37,763,427 (GRCm38) |
A517T |
probably damaging |
Het |
| Ptgr2 |
A |
T |
12: 84,292,298 (GRCm38) |
|
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,473,364 (GRCm38) |
D417N |
possibly damaging |
Het |
| Racgap1 |
T |
A |
15: 99,642,958 (GRCm38) |
T4S |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,249,180 (GRCm38) |
H941R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,103,435 (GRCm38) |
H312R |
probably damaging |
Het |
| Rnf166 |
T |
A |
8: 122,467,987 (GRCm38) |
H208L |
probably damaging |
Het |
| Theg |
T |
C |
10: 79,576,715 (GRCm38) |
E314G |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,250,426 (GRCm38) |
S999P |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,786,256 (GRCm38) |
R118L |
possibly damaging |
Het |
| Tor1aip1 |
A |
T |
1: 156,007,609 (GRCm38) |
H349Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,920,460 (GRCm38) |
E3415V |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,676,624 (GRCm38) |
N78Y |
probably damaging |
Het |
| Wdr11 |
A |
T |
7: 129,607,086 (GRCm38) |
D427V |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,113,437 (GRCm38) |
|
probably benign |
Het |
| Zfp516 |
T |
A |
18: 82,957,108 (GRCm38) |
M477K |
probably benign |
Het |
|
| Other mutations in Adcy2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00923:Adcy2
|
APN |
13 |
68,620,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01074:Adcy2
|
APN |
13 |
68,796,654 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01394:Adcy2
|
APN |
13 |
68,982,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01820:Adcy2
|
APN |
13 |
68,738,545 (GRCm38) |
splice site |
probably null |
|
|
IGL02048:Adcy2
|
APN |
13 |
68,888,067 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL02378:Adcy2
|
APN |
13 |
68,730,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02419:Adcy2
|
APN |
13 |
68,982,363 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL02896:Adcy2
|
APN |
13 |
68,727,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02953:Adcy2
|
APN |
13 |
68,729,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03358:Adcy2
|
APN |
13 |
68,729,277 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03387:Adcy2
|
APN |
13 |
68,730,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Adcy2
|
UTSW |
13 |
68,678,602 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4366001:Adcy2
|
UTSW |
13 |
68,709,990 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0044:Adcy2
|
UTSW |
13 |
68,727,899 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0044:Adcy2
|
UTSW |
13 |
68,727,899 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0083:Adcy2
|
UTSW |
13 |
68,651,935 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0108:Adcy2
|
UTSW |
13 |
68,651,935 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0269:Adcy2
|
UTSW |
13 |
68,678,606 (GRCm38) |
nonsense |
probably null |
|
|
R0369:Adcy2
|
UTSW |
13 |
68,671,900 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0480:Adcy2
|
UTSW |
13 |
68,732,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0550:Adcy2
|
UTSW |
13 |
68,982,361 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0551:Adcy2
|
UTSW |
13 |
68,796,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0617:Adcy2
|
UTSW |
13 |
68,678,606 (GRCm38) |
nonsense |
probably null |
|
|
R0634:Adcy2
|
UTSW |
13 |
68,727,945 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R0715:Adcy2
|
UTSW |
13 |
68,888,042 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0723:Adcy2
|
UTSW |
13 |
68,999,129 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1136:Adcy2
|
UTSW |
13 |
68,730,317 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1271:Adcy2
|
UTSW |
13 |
68,642,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1349:Adcy2
|
UTSW |
13 |
68,668,533 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1372:Adcy2
|
UTSW |
13 |
68,668,533 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1390:Adcy2
|
UTSW |
13 |
68,657,393 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1495:Adcy2
|
UTSW |
13 |
68,796,535 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1706:Adcy2
|
UTSW |
13 |
68,720,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1839:Adcy2
|
UTSW |
13 |
68,689,261 (GRCm38) |
splice site |
probably null |
|
|
R2004:Adcy2
|
UTSW |
13 |
68,796,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2235:Adcy2
|
UTSW |
13 |
68,668,492 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2242:Adcy2
|
UTSW |
13 |
68,689,341 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2940:Adcy2
|
UTSW |
13 |
68,730,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3624:Adcy2
|
UTSW |
13 |
68,642,531 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3689:Adcy2
|
UTSW |
13 |
68,630,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4685:Adcy2
|
UTSW |
13 |
68,727,905 (GRCm38) |
missense |
probably benign |
0.32 |
|
R4695:Adcy2
|
UTSW |
13 |
68,727,843 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5213:Adcy2
|
UTSW |
13 |
68,620,823 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R5645:Adcy2
|
UTSW |
13 |
68,729,202 (GRCm38) |
splice site |
probably null |
|
|
R5687:Adcy2
|
UTSW |
13 |
68,642,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5687:Adcy2
|
UTSW |
13 |
68,620,819 (GRCm38) |
nonsense |
probably null |
|
|
R5833:Adcy2
|
UTSW |
13 |
68,738,603 (GRCm38) |
missense |
probably benign |
|
|
R5846:Adcy2
|
UTSW |
13 |
68,738,588 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5894:Adcy2
|
UTSW |
13 |
68,625,852 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6111:Adcy2
|
UTSW |
13 |
68,729,241 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6311:Adcy2
|
UTSW |
13 |
68,625,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6642:Adcy2
|
UTSW |
13 |
68,620,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6644:Adcy2
|
UTSW |
13 |
68,668,552 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6899:Adcy2
|
UTSW |
13 |
68,982,381 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6917:Adcy2
|
UTSW |
13 |
68,620,757 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R6950:Adcy2
|
UTSW |
13 |
68,888,065 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7006:Adcy2
|
UTSW |
13 |
68,888,020 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7186:Adcy2
|
UTSW |
13 |
68,668,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7311:Adcy2
|
UTSW |
13 |
68,630,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7348:Adcy2
|
UTSW |
13 |
68,734,675 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7440:Adcy2
|
UTSW |
13 |
68,796,667 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7827:Adcy2
|
UTSW |
13 |
68,689,281 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7919:Adcy2
|
UTSW |
13 |
68,887,972 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8144:Adcy2
|
UTSW |
13 |
68,734,635 (GRCm38) |
nonsense |
probably null |
|
|
R8256:Adcy2
|
UTSW |
13 |
68,620,761 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8556:Adcy2
|
UTSW |
13 |
68,630,975 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9121:Adcy2
|
UTSW |
13 |
68,671,959 (GRCm38) |
missense |
probably benign |
0.35 |
|
R9128:Adcy2
|
UTSW |
13 |
68,625,808 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9255:Adcy2
|
UTSW |
13 |
68,888,080 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9464:Adcy2
|
UTSW |
13 |
68,734,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9749:Adcy2
|
UTSW |
13 |
68,625,855 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9799:Adcy2
|
UTSW |
13 |
68,657,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9799:Adcy2
|
UTSW |
13 |
68,620,842 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCACACAGGTATCACAATTTC -3'
(R):5'- TTGCCAAAAGTCTGATGTGATCTG -3'
Sequencing Primer
(F):5'- TTCAACACAGGTAAGAGTAGTCATG -3'
(R):5'- ACACAGGGAATTTGGCCATG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation