Incidental Mutation 'R9255:Adcy2'
| ID |
701832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy2
|
| Ensembl Gene |
ENSMUSG00000021536 |
| Gene Name |
adenylate cyclase 2 |
| Synonyms |
|
| MMRRC Submission |
068961-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9255 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69036199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 154
(M154K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022013]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022013
AA Change: M154K
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: M154K
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,626,795 (GRCm39) |
Y549C |
probably damaging |
Het |
| Abca13 |
A |
C |
11: 9,278,213 (GRCm39) |
N3131T |
probably damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,145 (GRCm39) |
V775A |
probably benign |
Het |
| Actn3 |
T |
A |
19: 4,921,820 (GRCm39) |
I149F |
probably damaging |
Het |
| Agbl1 |
A |
T |
7: 76,416,150 (GRCm39) |
M976L |
unknown |
Het |
| Agbl3 |
T |
A |
6: 34,789,840 (GRCm39) |
M531K |
probably damaging |
Het |
| Armc8 |
A |
C |
9: 99,379,441 (GRCm39) |
M495R |
possibly damaging |
Het |
| Astn2 |
T |
A |
4: 65,563,085 (GRCm39) |
K899* |
probably null |
Het |
| Atp10b |
T |
A |
11: 43,107,148 (GRCm39) |
H727Q |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,519,401 (GRCm39) |
I564V |
possibly damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
T |
A |
6: 29,409,237 (GRCm39) |
H183Q |
probably benign |
Het |
| Celf3 |
T |
C |
3: 94,392,594 (GRCm39) |
F98L |
probably benign |
Het |
| Chrd |
G |
A |
16: 20,558,801 (GRCm39) |
C845Y |
probably damaging |
Het |
| Clec1a |
T |
G |
6: 129,409,208 (GRCm39) |
K139N |
probably benign |
Het |
| Cntln |
T |
G |
4: 85,019,103 (GRCm39) |
N130K |
possibly damaging |
Het |
| Cog1 |
A |
T |
11: 113,547,019 (GRCm39) |
T538S |
probably benign |
Het |
| Cog8 |
A |
G |
8: 107,779,383 (GRCm39) |
I298T |
probably damaging |
Het |
| Dio1 |
A |
T |
4: 107,164,102 (GRCm39) |
W72R |
probably damaging |
Het |
| Elapor1 |
T |
C |
3: 108,376,864 (GRCm39) |
R453G |
probably damaging |
Het |
| Exph5 |
T |
A |
9: 53,284,609 (GRCm39) |
N563K |
possibly damaging |
Het |
| Foxn1 |
C |
A |
11: 78,252,399 (GRCm39) |
E330* |
probably null |
Het |
| Fzd7 |
G |
T |
1: 59,522,495 (GRCm39) |
R126L |
possibly damaging |
Het |
| Gmnn |
A |
G |
13: 24,937,351 (GRCm39) |
Y147H |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,980,186 (GRCm39) |
N83S |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,889,173 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,261,972 (GRCm39) |
D2691G |
probably benign |
Het |
| Ifi203 |
A |
T |
1: 173,756,787 (GRCm39) |
I332N |
unknown |
Het |
| Inpp1 |
A |
G |
1: 52,829,306 (GRCm39) |
S238P |
probably benign |
Het |
| Jmy |
A |
G |
13: 93,589,894 (GRCm39) |
|
probably null |
Het |
| Kcnab3 |
C |
T |
11: 69,222,337 (GRCm39) |
Q327* |
probably null |
Het |
| Kctd1 |
A |
G |
18: 15,194,853 (GRCm39) |
V590A |
probably benign |
Het |
| Lrrc8e |
A |
T |
8: 4,284,504 (GRCm39) |
H243L |
probably damaging |
Het |
| Lsr |
A |
G |
7: 30,657,670 (GRCm39) |
L498S |
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,843,556 (GRCm39) |
D268G |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,598,287 (GRCm39) |
V203A |
possibly damaging |
Het |
| Micu1 |
T |
A |
10: 59,604,051 (GRCm39) |
I212N |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Or11i1 |
A |
G |
3: 106,729,737 (GRCm39) |
I46T |
probably benign |
Het |
| Or12j4 |
T |
C |
7: 140,046,423 (GRCm39) |
F103S |
probably damaging |
Het |
| Or8g30 |
T |
C |
9: 39,230,487 (GRCm39) |
Y141C |
probably benign |
Het |
| Pabpc6 |
T |
C |
17: 9,886,769 (GRCm39) |
E594G |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,176,989 (GRCm39) |
|
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,325,938 (GRCm39) |
I113T |
possibly damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pi4kb |
T |
C |
3: 94,906,219 (GRCm39) |
S589P |
probably damaging |
Het |
| Pik3ca |
G |
A |
3: 32,496,981 (GRCm39) |
|
probably null |
Het |
| Plekhg4 |
A |
T |
8: 106,103,271 (GRCm39) |
M315L |
probably benign |
Het |
| Proz |
G |
A |
8: 13,123,472 (GRCm39) |
V248M |
possibly damaging |
Het |
| Prss1 |
T |
C |
6: 41,438,183 (GRCm39) |
Y37H |
probably damaging |
Het |
| R3hdml |
T |
A |
2: 163,337,612 (GRCm39) |
W89R |
probably damaging |
Het |
| Ranbp3l |
A |
G |
15: 9,057,293 (GRCm39) |
T319A |
probably benign |
Het |
| Scn4a |
C |
T |
11: 106,215,054 (GRCm39) |
A1246T |
probably damaging |
Het |
| Sdr42e1 |
T |
A |
8: 118,389,999 (GRCm39) |
Y214F |
probably benign |
Het |
| Slc10a2 |
C |
T |
8: 5,148,565 (GRCm39) |
V127I |
probably benign |
Het |
| Slc16a1 |
T |
A |
3: 104,560,148 (GRCm39) |
M151K |
possibly damaging |
Het |
| Slc25a25 |
C |
T |
2: 32,310,391 (GRCm39) |
E123K |
probably damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,818,525 (GRCm39) |
M171K |
possibly damaging |
Het |
| Styk1 |
A |
G |
6: 131,286,946 (GRCm39) |
V183A |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tspan18 |
T |
G |
2: 93,040,200 (GRCm39) |
D185A |
probably benign |
Het |
| Tti2 |
T |
A |
8: 31,645,570 (GRCm39) |
F320Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,621 (GRCm39) |
I17798M |
probably damaging |
Het |
| Ube2j1 |
C |
A |
4: 33,036,759 (GRCm39) |
H28N |
probably benign |
Het |
| Vmn1r195 |
A |
C |
13: 22,463,342 (GRCm39) |
I271L |
possibly damaging |
Het |
| Vmn2r81 |
A |
C |
10: 79,103,166 (GRCm39) |
T120P |
possibly damaging |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,673,965 (GRCm39) |
Y348F |
possibly damaging |
Het |
| Wtip |
A |
G |
7: 33,824,908 (GRCm39) |
|
probably null |
Het |
| Zc3h12d |
C |
T |
10: 7,729,022 (GRCm39) |
H129Y |
probably damaging |
Het |
| Zfp600 |
T |
G |
4: 146,131,673 (GRCm39) |
S114A |
possibly 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 |
|
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 |
|
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'- ACCGATGCTAGGAAGAGCTCTG -3'
(R):5'- ACGTGGTTCCAGGGATTCAG -3'
Sequencing Primer
(F):5'- GCTCTGAAAGGCCAGTGG -3'
(R):5'- CCTGCACTAGGCTTGTTATAATTCAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation