Incidental Mutation 'R9799:Adcy2'
| ID |
735119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy2
|
| Ensembl Gene |
ENSMUSG00000021536 |
| Gene Name |
adenylate cyclase 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9799 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68768961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1056
(T1056A)
|
| 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: T1056A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: T1056A
| 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: 99.8%
- 10x: 99.5%
- 20x: 98.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,132,998 (GRCm39) |
Y1309C |
probably benign |
Het |
| Agxt |
T |
C |
1: 93,063,070 (GRCm39) |
W19R |
probably benign |
Het |
| Akr1b8 |
G |
A |
6: 34,333,278 (GRCm39) |
E52K |
possibly damaging |
Het |
| Arhgef10 |
T |
C |
8: 14,990,268 (GRCm39) |
Y248H |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,855,391 (GRCm39) |
D232G |
unknown |
Het |
| Arid4b |
T |
C |
13: 14,358,967 (GRCm39) |
S668P |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,417,505 (GRCm39) |
S775R |
probably damaging |
Het |
| Ccl25 |
T |
C |
8: 4,377,799 (GRCm39) |
F20L |
unknown |
Het |
| Cimap1a |
A |
T |
7: 140,430,706 (GRCm39) |
E254D |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,842,988 (GRCm39) |
H218L |
probably benign |
Het |
| Csnka2ip |
T |
C |
16: 64,298,672 (GRCm39) |
K564R |
unknown |
Het |
| Cyp2r1 |
A |
G |
7: 114,151,207 (GRCm39) |
F371L |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,469,812 (GRCm39) |
F392I |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,557,968 (GRCm39) |
T2149A |
probably benign |
Het |
| Emx2 |
A |
G |
19: 59,448,036 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Erbin |
T |
C |
13: 103,971,384 (GRCm39) |
D744G |
probably benign |
Het |
| Gcm2 |
T |
C |
13: 41,258,924 (GRCm39) |
N140S |
probably damaging |
Het |
| Gnai2 |
C |
T |
9: 107,512,380 (GRCm39) |
A13T |
probably benign |
Het |
| Gpr150 |
T |
C |
13: 76,204,636 (GRCm39) |
Y103C |
possibly damaging |
Het |
| Gstp2 |
A |
G |
19: 4,091,901 (GRCm39) |
|
probably null |
Het |
| Kdr |
A |
G |
5: 76,117,752 (GRCm39) |
I667T |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,612,400 (GRCm39) |
I534T |
|
Het |
| Lrrtm3 |
T |
A |
10: 63,925,749 (GRCm39) |
|
probably benign |
Het |
| Meiob |
C |
T |
17: 25,042,574 (GRCm39) |
T134I |
probably benign |
Het |
| Msh2 |
G |
T |
17: 88,024,933 (GRCm39) |
A604S |
probably damaging |
Het |
| Mterf3 |
T |
C |
13: 67,062,780 (GRCm39) |
T319A |
possibly damaging |
Het |
| Myo3a |
C |
T |
2: 22,490,181 (GRCm39) |
T1514I |
probably damaging |
Het |
| Ndfip2 |
T |
C |
14: 105,496,400 (GRCm39) |
M98T |
possibly damaging |
Het |
| Nfatc2ip |
A |
G |
7: 125,989,739 (GRCm39) |
V215A |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,959,065 (GRCm39) |
T46S |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,732 (GRCm39) |
M118K |
probably damaging |
Het |
| Pabpc6 |
C |
T |
17: 9,888,114 (GRCm39) |
E146K |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,122,613 (GRCm39) |
Y727C |
probably damaging |
Het |
| Pemt |
A |
G |
11: 59,937,174 (GRCm39) |
F30L |
possibly damaging |
Het |
| Plch1 |
A |
G |
3: 63,605,591 (GRCm39) |
S1438P |
possibly damaging |
Het |
| Pnma2 |
T |
A |
14: 67,154,009 (GRCm39) |
H144Q |
probably benign |
Het |
| Ppp1r14b |
A |
G |
19: 6,952,825 (GRCm39) |
N70S |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,054,236 (GRCm39) |
M725K |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,858,489 (GRCm39) |
K533E |
probably benign |
Het |
| Rb1cc1 |
C |
A |
1: 6,315,126 (GRCm39) |
H426Q |
probably damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,027,641 (GRCm39) |
E355G |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,578,182 (GRCm39) |
F170L |
probably damaging |
Het |
| Sema3f |
G |
T |
9: 107,562,562 (GRCm39) |
A473E |
probably damaging |
Het |
| Serpinb3a |
T |
G |
1: 106,974,892 (GRCm39) |
I214L |
probably benign |
Het |
| Siglec1 |
G |
T |
2: 130,915,941 (GRCm39) |
P1307Q |
probably damaging |
Het |
| Srd5a2 |
A |
C |
17: 74,331,535 (GRCm39) |
I154S |
possibly damaging |
Het |
| Sugp1 |
A |
G |
8: 70,523,068 (GRCm39) |
E537G |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,142,074 (GRCm39) |
E91G |
possibly damaging |
Het |
| Tiparp |
A |
T |
3: 65,454,973 (GRCm39) |
N373Y |
probably benign |
Het |
| Tmem217 |
A |
C |
17: 29,745,232 (GRCm39) |
I166S |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,563,406 (GRCm39) |
Y746N |
probably damaging |
Het |
| Tubb2a |
C |
T |
13: 34,260,607 (GRCm39) |
D31N |
probably benign |
Het |
| Utrn |
T |
G |
10: 12,585,736 (GRCm39) |
I1014L |
probably benign |
Het |
| Vtn |
T |
C |
11: 78,392,625 (GRCm39) |
I401T |
probably benign |
Het |
| Wwc2 |
G |
T |
8: 48,321,595 (GRCm39) |
H506Q |
unknown |
Het |
| Xab2 |
G |
T |
8: 3,668,182 (GRCm39) |
T132N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCTTCCTGCAAGCACACG -3'
(R):5'- TTTGTGACTGGGTTACCTCAC -3'
Sequencing Primer
(F):5'- ACACGCTTCTTGTCAGGAAG -3'
(R):5'- AATTCACTGGTTTTTAGTAGCTGAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation