Incidental Mutation 'R0634:Adcy2'
ID |
58171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy2
|
Ensembl Gene |
ENSMUSG00000021536 |
Gene Name |
adenylate cyclase 2 |
Synonyms |
|
MMRRC Submission |
038823-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0634 (G1)
|
Quality Score |
169 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
68768162-69147660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 68876064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 479
(H479Q)
|
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: H479Q
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000022013 Gene: ENSMUSG00000021536 AA Change: H479Q
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 |
0.0591 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
Validation Efficiency |
98% (62/63) |
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 |
Abca13 |
A |
G |
11: 9,264,491 (GRCm39) |
I2958V |
possibly damaging |
Het |
Adam21 |
C |
A |
12: 81,607,126 (GRCm39) |
W212L |
probably benign |
Het |
Adcy4 |
T |
C |
14: 56,019,054 (GRCm39) |
R168G |
probably benign |
Het |
Adrm1b |
C |
T |
3: 92,336,116 (GRCm39) |
W125* |
probably null |
Het |
Atp13a2 |
T |
C |
4: 140,734,240 (GRCm39) |
|
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,464 (GRCm39) |
E304K |
possibly damaging |
Het |
Cc2d2a |
A |
C |
5: 43,838,723 (GRCm39) |
|
probably benign |
Het |
Cenpe |
T |
C |
3: 134,952,588 (GRCm39) |
L1426P |
probably damaging |
Het |
Cntn1 |
A |
T |
15: 92,212,444 (GRCm39) |
R869* |
probably null |
Het |
Creb3l2 |
A |
T |
6: 37,311,283 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
G |
A |
4: 133,802,615 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,276,405 (GRCm39) |
F800I |
probably damaging |
Het |
Dock6 |
G |
A |
9: 21,752,823 (GRCm39) |
T330I |
probably damaging |
Het |
Ets2 |
G |
A |
16: 95,517,200 (GRCm39) |
E311K |
possibly damaging |
Het |
Fbxo22 |
A |
T |
9: 55,122,244 (GRCm39) |
Q141L |
probably benign |
Het |
Fer |
C |
T |
17: 64,342,503 (GRCm39) |
T223M |
probably benign |
Het |
Gtf3c1 |
A |
T |
7: 125,256,649 (GRCm39) |
|
probably benign |
Het |
Gtf3c2 |
G |
A |
5: 31,317,150 (GRCm39) |
R684* |
probably null |
Het |
Hs6st3 |
T |
A |
14: 120,106,474 (GRCm39) |
L294* |
probably null |
Het |
Ighg2c |
T |
G |
12: 113,251,584 (GRCm39) |
E181A |
unknown |
Het |
Igkv6-15 |
A |
T |
6: 70,383,763 (GRCm39) |
|
probably benign |
Het |
Irag2 |
A |
T |
6: 145,120,354 (GRCm39) |
H523L |
probably damaging |
Het |
Map2k6 |
C |
T |
11: 110,385,169 (GRCm39) |
R178* |
probably null |
Het |
Meikin |
T |
A |
11: 54,281,309 (GRCm39) |
D126E |
probably benign |
Het |
Mgst1 |
A |
T |
6: 138,133,329 (GRCm39) |
T37S |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,238,518 (GRCm39) |
V1222M |
probably benign |
Het |
Myom2 |
C |
A |
8: 15,169,216 (GRCm39) |
|
probably benign |
Het |
Negr1 |
A |
G |
3: 156,721,903 (GRCm39) |
K159R |
possibly damaging |
Het |
Nptx1 |
T |
C |
11: 119,434,127 (GRCm39) |
T320A |
possibly damaging |
Het |
Or12j3 |
A |
T |
7: 139,953,310 (GRCm39) |
V71E |
possibly damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,961 (GRCm39) |
M107K |
probably benign |
Het |
Or5p66 |
T |
C |
7: 107,885,503 (GRCm39) |
I277V |
probably benign |
Het |
Pes1 |
C |
T |
11: 3,927,794 (GRCm39) |
|
probably benign |
Het |
Pes1 |
T |
G |
11: 3,927,795 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,187,698 (GRCm39) |
Y3537N |
probably damaging |
Het |
Poteg |
G |
A |
8: 27,963,615 (GRCm39) |
G289R |
probably benign |
Het |
Pramel29 |
A |
G |
4: 143,935,910 (GRCm39) |
|
probably null |
Het |
Rassf5 |
T |
C |
1: 131,172,693 (GRCm39) |
R59G |
probably damaging |
Het |
Reln |
A |
T |
5: 22,223,867 (GRCm39) |
W961R |
probably damaging |
Het |
Rhot2 |
G |
A |
17: 26,061,002 (GRCm39) |
H168Y |
possibly damaging |
Het |
Ripk3 |
G |
T |
14: 56,025,848 (GRCm39) |
|
probably benign |
Het |
Samm50 |
A |
G |
15: 84,098,372 (GRCm39) |
|
silent |
Het |
Sap30bp |
T |
C |
11: 115,848,229 (GRCm39) |
I117T |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Sipa1l2 |
A |
T |
8: 126,149,363 (GRCm39) |
L1632* |
probably null |
Het |
Sirt7 |
T |
C |
11: 120,512,955 (GRCm39) |
|
probably benign |
Het |
Smg8 |
T |
C |
11: 86,976,934 (GRCm39) |
T216A |
possibly damaging |
Het |
Sox9 |
A |
G |
11: 112,675,768 (GRCm39) |
Y319C |
probably damaging |
Het |
Sspn |
G |
A |
6: 145,906,877 (GRCm39) |
A27T |
possibly damaging |
Het |
Suco |
A |
G |
1: 161,666,373 (GRCm39) |
V509A |
possibly damaging |
Het |
Svep1 |
C |
T |
4: 58,070,661 (GRCm39) |
C2375Y |
possibly damaging |
Het |
Trbv21 |
T |
A |
6: 41,179,984 (GRCm39) |
|
probably benign |
Het |
Uimc1 |
C |
T |
13: 55,208,079 (GRCm39) |
E455K |
possibly damaging |
Het |
Upk3b |
A |
G |
5: 136,068,930 (GRCm39) |
T100A |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,707,862 (GRCm39) |
N1303D |
probably damaging |
Het |
Vav1 |
A |
T |
17: 57,610,862 (GRCm39) |
D476V |
probably benign |
Het |
Vmn1r68 |
A |
G |
7: 10,261,162 (GRCm39) |
V312A |
probably benign |
Het |
Wdr62 |
A |
G |
7: 29,969,599 (GRCm39) |
V287A |
probably damaging |
Het |
Zcchc4 |
C |
T |
5: 52,940,550 (GRCm39) |
P40S |
probably benign |
Het |
Zfp326 |
T |
A |
5: 106,034,069 (GRCm39) |
Y26* |
probably null |
Het |
Zfp592 |
A |
G |
7: 80,687,819 (GRCm39) |
H915R |
probably 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 |
|
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 |
R9799:Adcy2
|
UTSW |
13 |
68,768,961 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGTCACCATCATTGCTGACAAG -3'
(R):5'- GTGAGGCCACCTAGCATGATCAAC -3'
Sequencing Primer
(F):5'- CATTGCTGACAAGCATGATTTTGG -3'
(R):5'- GATCCTAAGTTCTGCCAAAGTG -3'
|
Posted On |
2013-07-11 |