Incidental Mutation 'R4351:Adcy6'
| ID |
328522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy6
|
| Ensembl Gene |
ENSMUSG00000022994 |
| Gene Name |
adenylate cyclase 6 |
| Synonyms |
AC6 |
| MMRRC Submission |
041106-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4351 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
98487854-98507957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98502041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 191
(V191E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096224]
[ENSMUST00000226500]
[ENSMUST00000227501]
[ENSMUST00000228566]
[ENSMUST00000228903]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096224
AA Change: V191E
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994
AA Change: V191E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
150 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
|
CYCc
|
331 |
532 |
2.95e-63 |
SMART |
|
Pfam:DUF1053
|
580 |
669 |
3.5e-18 |
PFAM |
|
transmembrane domain
|
701 |
723 |
N/A |
INTRINSIC |
|
transmembrane domain
|
744 |
763 |
N/A |
INTRINSIC |
|
transmembrane domain
|
815 |
834 |
N/A |
INTRINSIC |
|
transmembrane domain
|
839 |
861 |
N/A |
INTRINSIC |
|
Blast:CYCc
|
885 |
929 |
5e-20 |
BLAST |
|
CYCc
|
939 |
1147 |
4.81e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227501
AA Change: V191E
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228566
AA Change: V191E
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228903
AA Change: V191E
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (42/43) |
| 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 adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for disruption of this gene show a reduction in calcium uptake and transport in cardiomyocytes as well as mild functional abnormalities in the left ventricle. Mice homozygous for a conditional allele activated in collecting ducts exhibit decreased urine osmilality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,912,519 (GRCm39) |
|
probably null |
Het |
| Abtb2 |
T |
A |
2: 103,513,738 (GRCm39) |
D382E |
possibly damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adh1 |
A |
G |
3: 137,986,258 (GRCm39) |
T82A |
probably benign |
Het |
| Ak6 |
C |
T |
13: 100,792,111 (GRCm39) |
Q185* |
probably null |
Het |
| Aldh6a1 |
A |
G |
12: 84,490,535 (GRCm39) |
Y27H |
probably benign |
Het |
| Apob |
A |
G |
12: 8,043,054 (GRCm39) |
M812V |
probably benign |
Het |
| Arhgef10 |
C |
A |
8: 15,041,145 (GRCm39) |
S748* |
probably null |
Het |
| Brd3 |
A |
T |
2: 27,347,028 (GRCm39) |
Y369N |
probably damaging |
Het |
| Cracdl |
A |
G |
1: 37,663,993 (GRCm39) |
F635S |
probably benign |
Het |
| Dhh |
A |
G |
15: 98,796,099 (GRCm39) |
|
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,881,542 (GRCm39) |
V200A |
probably benign |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Evx1 |
A |
G |
6: 52,290,846 (GRCm39) |
D6G |
probably damaging |
Het |
| Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Hars2 |
A |
G |
18: 36,919,231 (GRCm39) |
E123G |
probably damaging |
Het |
| Hsd17b4 |
A |
T |
18: 50,275,701 (GRCm39) |
D115V |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or2v2 |
A |
G |
11: 49,004,530 (GRCm39) |
S8P |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,630,865 (GRCm39) |
M114K |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,373,794 (GRCm39) |
T269A |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
T |
C |
2: 119,913,680 (GRCm39) |
|
noncoding transcript |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Tm2d3 |
A |
G |
7: 65,344,939 (GRCm39) |
Y49C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Wdr81 |
A |
G |
11: 75,332,638 (GRCm39) |
L1921P |
probably damaging |
Het |
|
| Other mutations in Adcy6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01114:Adcy6
|
APN |
15 |
98,496,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01132:Adcy6
|
APN |
15 |
98,495,732 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01642:Adcy6
|
APN |
15 |
98,492,390 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01647:Adcy6
|
APN |
15 |
98,498,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01788:Adcy6
|
APN |
15 |
98,494,400 (GRCm39) |
nonsense |
probably null |
|
|
IGL02122:Adcy6
|
APN |
15 |
98,496,763 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02210:Adcy6
|
APN |
15 |
98,492,852 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02249:Adcy6
|
APN |
15 |
98,497,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02404:Adcy6
|
APN |
15 |
98,494,819 (GRCm39) |
missense |
probably benign |
|
|
IGL02691:Adcy6
|
APN |
15 |
98,502,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Adcy6
|
UTSW |
15 |
98,493,027 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0178:Adcy6
|
UTSW |
15 |
98,502,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0497:Adcy6
|
UTSW |
15 |
98,495,606 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0739:Adcy6
|
UTSW |
15 |
98,496,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1454:Adcy6
|
UTSW |
15 |
98,502,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Adcy6
|
UTSW |
15 |
98,490,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1536:Adcy6
|
UTSW |
15 |
98,497,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1927:Adcy6
|
UTSW |
15 |
98,496,379 (GRCm39) |
splice site |
probably null |
|
|
R2178:Adcy6
|
UTSW |
15 |
98,492,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2294:Adcy6
|
UTSW |
15 |
98,495,322 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2356:Adcy6
|
UTSW |
15 |
98,494,897 (GRCm39) |
splice site |
probably null |
|
|
R2898:Adcy6
|
UTSW |
15 |
98,491,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3001:Adcy6
|
UTSW |
15 |
98,494,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3002:Adcy6
|
UTSW |
15 |
98,494,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3794:Adcy6
|
UTSW |
15 |
98,496,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3884:Adcy6
|
UTSW |
15 |
98,495,055 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4348:Adcy6
|
UTSW |
15 |
98,502,041 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4542:Adcy6
|
UTSW |
15 |
98,496,869 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4548:Adcy6
|
UTSW |
15 |
98,496,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5693:Adcy6
|
UTSW |
15 |
98,501,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Adcy6
|
UTSW |
15 |
98,496,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5994:Adcy6
|
UTSW |
15 |
98,491,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5998:Adcy6
|
UTSW |
15 |
98,492,235 (GRCm39) |
nonsense |
probably null |
|
|
R6142:Adcy6
|
UTSW |
15 |
98,496,303 (GRCm39) |
missense |
probably benign |
|
|
R6242:Adcy6
|
UTSW |
15 |
98,501,896 (GRCm39) |
nonsense |
probably null |
|
|
R6305:Adcy6
|
UTSW |
15 |
98,496,526 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6751:Adcy6
|
UTSW |
15 |
98,494,086 (GRCm39) |
missense |
probably benign |
|
|
R7130:Adcy6
|
UTSW |
15 |
98,495,110 (GRCm39) |
missense |
probably benign |
|
|
R7335:Adcy6
|
UTSW |
15 |
98,501,757 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7643:Adcy6
|
UTSW |
15 |
98,491,449 (GRCm39) |
missense |
probably benign |
|
|
R7658:Adcy6
|
UTSW |
15 |
98,493,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7748:Adcy6
|
UTSW |
15 |
98,502,437 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7761:Adcy6
|
UTSW |
15 |
98,497,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Adcy6
|
UTSW |
15 |
98,494,414 (GRCm39) |
missense |
probably benign |
|
|
R7954:Adcy6
|
UTSW |
15 |
98,494,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8259:Adcy6
|
UTSW |
15 |
98,498,919 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8260:Adcy6
|
UTSW |
15 |
98,498,919 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8520:Adcy6
|
UTSW |
15 |
98,502,041 (GRCm39) |
missense |
probably benign |
|
|
R8790:Adcy6
|
UTSW |
15 |
98,496,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8834:Adcy6
|
UTSW |
15 |
98,498,922 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8951:Adcy6
|
UTSW |
15 |
98,502,140 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9297:Adcy6
|
UTSW |
15 |
98,491,466 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9318:Adcy6
|
UTSW |
15 |
98,491,466 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0020:Adcy6
|
UTSW |
15 |
98,496,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0021:Adcy6
|
UTSW |
15 |
98,501,823 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCCAGGCCAAAATCAAATG -3'
(R):5'- AGTCTAAGCAGTTCCGCTCTG -3'
Sequencing Primer
(F):5'- AGGCCGCTGAGTACTGC -3'
(R):5'- AGTTCCGCTCTGCCAAGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation