Incidental Mutation 'R0715:Adcy2'
ID |
218501 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy2
|
Ensembl Gene |
ENSMUSG00000021536 |
Gene Name |
adenylate cyclase 2 |
Synonyms |
|
MMRRC Submission |
038898-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0715 (G1)
|
Quality Score |
42 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 69036161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 167
(V167I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022013]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022013
AA Change: V167I
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000022013 Gene: ENSMUSG00000021536 AA Change: V167I
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 |
0.0599 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
98% (61/62) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
A |
G |
11: 58,179,176 (GRCm39) |
Y170C |
probably damaging |
Het |
Agl |
A |
G |
3: 116,545,825 (GRCm39) |
Y1324H |
probably damaging |
Het |
Arhgef37 |
G |
T |
18: 61,641,860 (GRCm39) |
Q170K |
probably damaging |
Het |
Asah2 |
A |
G |
19: 31,994,176 (GRCm39) |
S390P |
probably damaging |
Het |
Atp8a1 |
A |
T |
5: 67,932,068 (GRCm39) |
H240Q |
probably benign |
Het |
Btbd16 |
T |
A |
7: 130,390,557 (GRCm39) |
N151K |
probably damaging |
Het |
Ccdc73 |
T |
A |
2: 104,803,499 (GRCm39) |
|
probably benign |
Het |
Cecr2 |
G |
T |
6: 120,735,159 (GRCm39) |
M21I |
probably benign |
Het |
Ckap2l |
T |
C |
2: 129,127,636 (GRCm39) |
T181A |
probably benign |
Het |
Col4a3 |
T |
C |
1: 82,629,879 (GRCm39) |
|
probably benign |
Het |
Cplane1 |
T |
A |
15: 8,252,576 (GRCm39) |
C1933S |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,972,074 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,611,706 (GRCm39) |
L516P |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 16,286,419 (GRCm39) |
T1035A |
probably benign |
Het |
Fzd8 |
A |
G |
18: 9,212,947 (GRCm39) |
T10A |
unknown |
Het |
Gm9631 |
C |
A |
11: 121,833,328 (GRCm39) |
C636F |
probably damaging |
Het |
Gp1ba |
A |
G |
11: 70,531,614 (GRCm39) |
|
probably benign |
Het |
Gsk3a |
A |
G |
7: 24,931,134 (GRCm39) |
V277A |
probably damaging |
Het |
H2-M1 |
T |
A |
17: 36,981,120 (GRCm39) |
|
probably benign |
Het |
Hesx1 |
T |
A |
14: 26,722,809 (GRCm39) |
W45R |
probably damaging |
Het |
Il23r |
T |
A |
6: 67,463,317 (GRCm39) |
M59L |
possibly damaging |
Het |
Insc |
T |
A |
7: 114,444,312 (GRCm39) |
V433E |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,196,053 (GRCm39) |
|
probably benign |
Het |
Kif13a |
T |
A |
13: 46,966,299 (GRCm39) |
E436V |
probably damaging |
Het |
Liph |
A |
G |
16: 21,814,100 (GRCm39) |
F7S |
probably benign |
Het |
Lpar2 |
T |
C |
8: 70,276,823 (GRCm39) |
V204A |
probably damaging |
Het |
Lrfn4 |
T |
A |
19: 4,662,668 (GRCm39) |
|
probably null |
Het |
Man2b2 |
A |
T |
5: 36,983,402 (GRCm39) |
D182E |
probably benign |
Het |
Mmp27 |
T |
C |
9: 7,581,156 (GRCm39) |
|
probably benign |
Het |
Mrm1 |
A |
G |
11: 84,705,639 (GRCm39) |
|
probably benign |
Het |
Mtx3 |
T |
C |
13: 92,986,869 (GRCm39) |
S271P |
probably damaging |
Het |
Myh11 |
A |
T |
16: 14,044,480 (GRCm39) |
M641K |
possibly damaging |
Het |
Necab2 |
A |
G |
8: 120,197,670 (GRCm39) |
D332G |
probably damaging |
Het |
Ngfr |
A |
G |
11: 95,465,065 (GRCm39) |
I261T |
possibly damaging |
Het |
Nrap |
T |
C |
19: 56,345,757 (GRCm39) |
E617G |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,941,306 (GRCm39) |
T4505K |
probably benign |
Het |
Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
Or8b57 |
A |
G |
9: 40,003,807 (GRCm39) |
Y148H |
probably damaging |
Het |
Osbpl11 |
T |
A |
16: 33,062,100 (GRCm39) |
|
probably benign |
Het |
Otof |
A |
G |
5: 30,552,041 (GRCm39) |
V301A |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,850,919 (GRCm39) |
L1145Q |
probably damaging |
Het |
Phospho2 |
T |
A |
2: 69,626,540 (GRCm39) |
I232N |
possibly damaging |
Het |
Pomgnt2 |
T |
A |
9: 121,811,127 (GRCm39) |
K551N |
probably damaging |
Het |
Ptchd3 |
A |
G |
11: 121,721,984 (GRCm39) |
T286A |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,331,976 (GRCm39) |
D2396G |
probably damaging |
Het |
Sh3pxd2b |
A |
G |
11: 32,373,341 (GRCm39) |
E836G |
possibly damaging |
Het |
Simc1 |
G |
T |
13: 54,673,468 (GRCm39) |
M605I |
possibly damaging |
Het |
Slc12a3 |
G |
A |
8: 95,056,061 (GRCm39) |
E66K |
possibly damaging |
Het |
Spg11 |
T |
C |
2: 121,915,464 (GRCm39) |
N1060S |
probably benign |
Het |
Supt5 |
A |
T |
7: 28,028,462 (GRCm39) |
W178R |
probably damaging |
Het |
Tmem41a |
G |
T |
16: 21,756,740 (GRCm39) |
F126L |
probably benign |
Het |
Ube2m |
T |
A |
7: 12,771,553 (GRCm39) |
Q35L |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,086,211 (GRCm39) |
D658G |
probably damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,238,373 (GRCm39) |
C456S |
probably benign |
Het |
Vmn2r81 |
T |
A |
10: 79,104,434 (GRCm39) |
D352E |
probably damaging |
Het |
Zfp516 |
A |
G |
18: 83,005,388 (GRCm39) |
Y764C |
probably damaging |
Het |
Zswim7 |
A |
G |
11: 62,167,473 (GRCm39) |
|
probably benign |
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 |
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 |
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'- TGACTAATGACCCTGGTGGAGGAG -3'
(R):5'- ACCACACCCAGATTTACGTGGTTC -3'
Sequencing Primer
(F):5'- CTTGCAGACCATGTCAAGGAG -3'
(R):5'- ctcgcatttccaccgcc -3'
|
Posted On |
2014-08-11 |