Incidental Mutation 'R5846:Adcy2'
| ID |
453646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy2
|
| Ensembl Gene |
ENSMUSG00000021536 |
| Gene Name |
adenylate cyclase 2 |
| Synonyms |
|
| MMRRC Submission |
044064-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68886707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 281
(N281Y)
|
| 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: N281Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: N281Y
| 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 |
|
| Meta Mutation Damage Score |
0.1920 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
97% (67/69) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,562,377 (GRCm39) |
S335P |
unknown |
Het |
| Ace3 |
A |
T |
11: 105,889,188 (GRCm39) |
I473F |
probably benign |
Het |
| Adgra1 |
T |
A |
7: 139,455,196 (GRCm39) |
W275R |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,450,341 (GRCm39) |
D20G |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,807,116 (GRCm39) |
T1184A |
probably damaging |
Het |
| Atp13a2 |
T |
C |
4: 140,722,907 (GRCm39) |
V303A |
possibly damaging |
Het |
| BC004004 |
A |
T |
17: 29,501,282 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
G |
A |
6: 124,517,912 (GRCm39) |
P23S |
possibly damaging |
Het |
| C1s2 |
T |
A |
6: 124,608,123 (GRCm39) |
N197Y |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,653,980 (GRCm39) |
H539R |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,569,025 (GRCm39) |
N899I |
probably damaging |
Het |
| Cct4 |
T |
C |
11: 22,951,354 (GRCm39) |
|
probably benign |
Het |
| Chrm2 |
A |
T |
6: 36,500,385 (GRCm39) |
T81S |
probably damaging |
Het |
| Dnaaf3 |
A |
T |
7: 4,526,686 (GRCm39) |
S464T |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,900,437 (GRCm39) |
I3898N |
possibly damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,067,584 (GRCm39) |
K1187E |
probably damaging |
Het |
| Dock4 |
A |
T |
12: 40,867,735 (GRCm39) |
D1437V |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,234,942 (GRCm39) |
Q3674* |
probably null |
Het |
| Eef1a2 |
T |
C |
2: 180,794,776 (GRCm39) |
Y141C |
probably damaging |
Het |
| Fads3 |
G |
T |
19: 10,030,397 (GRCm39) |
Q178H |
probably null |
Het |
| Fbxw22 |
T |
A |
9: 109,215,829 (GRCm39) |
M140L |
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,788,707 (GRCm39) |
I178T |
probably damaging |
Het |
| Foxd1 |
T |
C |
13: 98,491,549 (GRCm39) |
M141T |
probably damaging |
Het |
| H4c2 |
T |
C |
13: 23,941,215 (GRCm39) |
V71A |
possibly damaging |
Het |
| Havcr2 |
T |
C |
11: 46,360,343 (GRCm39) |
I141T |
probably benign |
Het |
| Hectd1 |
A |
C |
12: 51,820,618 (GRCm39) |
N1190K |
probably damaging |
Het |
| Hook3 |
T |
A |
8: 26,534,355 (GRCm39) |
|
probably benign |
Het |
| Hpgd |
T |
A |
8: 56,760,702 (GRCm39) |
I133N |
possibly damaging |
Het |
| Itih2 |
T |
C |
2: 10,102,714 (GRCm39) |
R807G |
probably benign |
Het |
| Klhl35 |
G |
A |
7: 99,122,094 (GRCm39) |
G65D |
probably damaging |
Het |
| Lrch4 |
C |
G |
5: 137,631,919 (GRCm39) |
C48W |
probably damaging |
Het |
| Mafa |
A |
G |
15: 75,619,627 (GRCm39) |
S49P |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,662,584 (GRCm39) |
V1170A |
probably damaging |
Het |
| Mprip |
A |
T |
11: 59,649,380 (GRCm39) |
K1028M |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Numb |
G |
T |
12: 83,923,521 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,929,435 (GRCm39) |
L6063P |
probably damaging |
Het |
| Or2y6 |
A |
G |
11: 52,103,881 (GRCm39) |
*312Q |
probably null |
Het |
| Or6c6c |
A |
T |
10: 129,540,756 (GRCm39) |
N3I |
probably damaging |
Het |
| P3h3 |
A |
T |
6: 124,834,157 (GRCm39) |
|
probably null |
Het |
| Pi4k2a |
A |
G |
19: 42,103,477 (GRCm39) |
D329G |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,713,268 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
A |
G |
6: 3,376,754 (GRCm39) |
V169A |
probably benign |
Het |
| Sdk1 |
T |
C |
5: 142,100,148 (GRCm39) |
Y1393H |
probably damaging |
Het |
| Slc18a3 |
T |
A |
14: 32,185,880 (GRCm39) |
M168L |
probably benign |
Het |
| Smurf1 |
T |
C |
5: 144,816,190 (GRCm39) |
T722A |
probably damaging |
Het |
| Ssr2 |
C |
T |
3: 88,488,379 (GRCm39) |
P85L |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,074,898 (GRCm39) |
A4614S |
probably benign |
Het |
| Tgfbr3 |
C |
A |
5: 107,288,521 (GRCm39) |
G380V |
possibly damaging |
Het |
| Tk1 |
G |
T |
11: 117,706,748 (GRCm39) |
|
probably benign |
Het |
| Tmem245 |
A |
T |
4: 56,903,241 (GRCm39) |
S610T |
probably benign |
Het |
| Tmtc2 |
A |
G |
10: 105,107,302 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
A |
G |
7: 104,006,578 (GRCm39) |
Y93H |
possibly damaging |
Het |
| Tsks |
A |
G |
7: 44,593,412 (GRCm39) |
D126G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,733,812 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
A |
G |
10: 123,017,647 (GRCm39) |
W50R |
probably damaging |
Het |
| Vmn2r55 |
A |
T |
7: 12,404,492 (GRCm39) |
F304I |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,339,587 (GRCm39) |
D609E |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,392,638 (GRCm39) |
|
probably null |
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 |
|
|
R5894:Adcy2
|
UTSW |
13 |
68,773,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCTGTTCCTATTGGCCACAGATG -3'
(R):5'- CAGATGGCCCTTTCCGTATC -3'
Sequencing Primer
(F):5'- CCACAGATGGCAAGCCC -3'
(R):5'- CCGTATCCATTTGAAACATGTCGAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation