Incidental Mutation 'R3162:Adcy9'
ID |
349870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy9
|
Ensembl Gene |
ENSMUSG00000005580 |
Gene Name |
adenylate cyclase 9 |
Synonyms |
ACtp10, D16Wsu65e |
MMRRC Submission |
040613-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.544)
|
Stock # |
R3162 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
4105393-4238362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4129452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 715
(L715P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005719]
[ENSMUST00000117801]
[ENSMUST00000120080]
|
AlphaFold |
P51830 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005719
AA Change: L715P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005719 Gene: ENSMUSG00000005580 AA Change: L715P
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
low complexity region
|
49 |
75 |
N/A |
INTRINSIC |
transmembrane domain
|
118 |
137 |
N/A |
INTRINSIC |
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
transmembrane domain
|
177 |
196 |
N/A |
INTRINSIC |
transmembrane domain
|
216 |
235 |
N/A |
INTRINSIC |
transmembrane domain
|
242 |
261 |
N/A |
INTRINSIC |
transmembrane domain
|
281 |
300 |
N/A |
INTRINSIC |
CYCc
|
325 |
547 |
1.69e-63 |
SMART |
transmembrane domain
|
791 |
813 |
N/A |
INTRINSIC |
transmembrane domain
|
823 |
845 |
N/A |
INTRINSIC |
transmembrane domain
|
858 |
880 |
N/A |
INTRINSIC |
transmembrane domain
|
890 |
912 |
N/A |
INTRINSIC |
transmembrane domain
|
977 |
996 |
N/A |
INTRINSIC |
CYCc
|
1023 |
1227 |
1.26e-39 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117801
AA Change: L715P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113498 Gene: ENSMUSG00000005580 AA Change: L715P
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
low complexity region
|
49 |
75 |
N/A |
INTRINSIC |
transmembrane domain
|
118 |
137 |
N/A |
INTRINSIC |
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
transmembrane domain
|
177 |
196 |
N/A |
INTRINSIC |
transmembrane domain
|
216 |
235 |
N/A |
INTRINSIC |
transmembrane domain
|
242 |
261 |
N/A |
INTRINSIC |
transmembrane domain
|
281 |
300 |
N/A |
INTRINSIC |
CYCc
|
325 |
547 |
1.69e-63 |
SMART |
transmembrane domain
|
791 |
813 |
N/A |
INTRINSIC |
transmembrane domain
|
823 |
845 |
N/A |
INTRINSIC |
transmembrane domain
|
858 |
880 |
N/A |
INTRINSIC |
transmembrane domain
|
890 |
912 |
N/A |
INTRINSIC |
transmembrane domain
|
977 |
996 |
N/A |
INTRINSIC |
CYCc
|
1023 |
1227 |
1.26e-39 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120080
AA Change: L478P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113421 Gene: ENSMUSG00000005580 AA Change: L478P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
transmembrane domain
|
44 |
63 |
N/A |
INTRINSIC |
CYCc
|
88 |
310 |
1.69e-63 |
SMART |
transmembrane domain
|
554 |
576 |
N/A |
INTRINSIC |
transmembrane domain
|
586 |
608 |
N/A |
INTRINSIC |
transmembrane domain
|
621 |
643 |
N/A |
INTRINSIC |
transmembrane domain
|
653 |
675 |
N/A |
INTRINSIC |
transmembrane domain
|
740 |
759 |
N/A |
INTRINSIC |
CYCc
|
786 |
990 |
1.26e-39 |
SMART |
|
Meta Mutation Damage Score |
0.3861 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
98% (62/63) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene show an increased IgG1 response to ovalbumin challenge. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
A |
15: 59,888,134 (GRCm39) |
E102V |
probably damaging |
Het |
9930014A18Rik |
A |
T |
15: 60,695,296 (GRCm39) |
V150E |
probably damaging |
Het |
Atad2b |
C |
A |
12: 4,989,689 (GRCm39) |
N133K |
possibly damaging |
Het |
AW551984 |
C |
A |
9: 39,504,325 (GRCm39) |
R547L |
probably damaging |
Het |
B3galt6 |
A |
G |
4: 156,076,464 (GRCm39) |
Y204H |
probably benign |
Het |
Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
Caps2 |
C |
A |
10: 112,018,391 (GRCm39) |
Y180* |
probably null |
Het |
Cfap54 |
T |
A |
10: 92,881,140 (GRCm39) |
K349N |
probably damaging |
Het |
Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,603,335 (GRCm39) |
L881P |
probably damaging |
Het |
Decr1 |
T |
A |
4: 15,930,972 (GRCm39) |
D120V |
probably damaging |
Het |
Dennd1c |
C |
T |
17: 57,373,562 (GRCm39) |
G637D |
possibly damaging |
Het |
Dhrs3 |
A |
G |
4: 144,646,016 (GRCm39) |
D108G |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
Dusp6 |
T |
C |
10: 99,099,944 (GRCm39) |
Y131H |
probably damaging |
Het |
Eif2b2 |
A |
T |
12: 85,266,435 (GRCm39) |
M34L |
probably benign |
Het |
Errfi1 |
G |
A |
4: 150,951,816 (GRCm39) |
E415K |
probably damaging |
Het |
Ext1 |
T |
C |
15: 53,208,000 (GRCm39) |
N254D |
possibly damaging |
Het |
Gm13141 |
GGTTTCTTGATGCC |
G |
4: 147,612,561 (GRCm39) |
|
noncoding transcript |
Het |
Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
Hpx |
C |
T |
7: 105,248,847 (GRCm39) |
|
probably benign |
Het |
Hyal3 |
T |
A |
9: 107,464,005 (GRCm39) |
C407S |
probably damaging |
Het |
Insr |
T |
G |
8: 3,211,416 (GRCm39) |
N1141T |
possibly damaging |
Het |
Ipo9 |
T |
C |
1: 135,337,214 (GRCm39) |
T174A |
probably benign |
Het |
Ivd |
T |
C |
2: 118,692,650 (GRCm39) |
|
probably null |
Het |
Leprot |
C |
T |
4: 101,515,090 (GRCm39) |
T89I |
probably damaging |
Het |
Msh6 |
T |
C |
17: 88,292,909 (GRCm39) |
Y555H |
probably damaging |
Het |
Nup155 |
G |
T |
15: 8,177,867 (GRCm39) |
R1083S |
possibly damaging |
Het |
Nusap1 |
A |
T |
2: 119,460,885 (GRCm39) |
Q126L |
possibly damaging |
Het |
Or13c7b |
T |
A |
4: 43,820,544 (GRCm39) |
K272N |
probably benign |
Het |
Or5al1 |
T |
C |
2: 85,990,439 (GRCm39) |
I92V |
probably benign |
Het |
Or6x1 |
G |
T |
9: 40,098,901 (GRCm39) |
Q163H |
probably benign |
Het |
Or7a35 |
C |
A |
10: 78,853,438 (GRCm39) |
T94N |
probably benign |
Het |
Pdik1l |
A |
G |
4: 134,011,561 (GRCm39) |
L94S |
probably damaging |
Het |
Pkdrej |
T |
A |
15: 85,700,818 (GRCm39) |
D1706V |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,368,924 (GRCm39) |
I856M |
probably damaging |
Het |
Prkcz |
A |
T |
4: 155,374,981 (GRCm39) |
D114E |
probably benign |
Het |
Psap |
T |
C |
10: 60,113,575 (GRCm39) |
L4P |
possibly damaging |
Het |
Ptprk |
T |
C |
10: 28,468,822 (GRCm39) |
V1402A |
probably benign |
Het |
Rai14 |
T |
C |
15: 10,633,250 (GRCm39) |
T47A |
possibly damaging |
Het |
Rlf |
A |
G |
4: 121,006,044 (GRCm39) |
S979P |
probably damaging |
Het |
Skic2 |
C |
T |
17: 35,066,789 (GRCm39) |
W88* |
probably null |
Het |
Skic8 |
T |
A |
9: 54,631,473 (GRCm39) |
|
probably benign |
Het |
Srbd1 |
A |
T |
17: 86,437,643 (GRCm39) |
D233E |
probably benign |
Het |
Tacr2 |
A |
G |
10: 62,101,024 (GRCm39) |
D378G |
probably benign |
Het |
Taok2 |
A |
G |
7: 126,474,347 (GRCm39) |
I294T |
possibly damaging |
Het |
Tert |
A |
G |
13: 73,775,528 (GRCm39) |
E93G |
possibly damaging |
Het |
Tns2 |
A |
G |
15: 102,021,771 (GRCm39) |
E1118G |
possibly damaging |
Het |
Ttc22 |
A |
T |
4: 106,480,276 (GRCm39) |
I177F |
probably damaging |
Het |
Vmn2r86 |
T |
C |
10: 130,291,673 (GRCm39) |
R31G |
probably damaging |
Het |
Wnt5a |
T |
C |
14: 28,244,445 (GRCm39) |
Y231H |
probably benign |
Het |
Zw10 |
T |
C |
9: 48,988,860 (GRCm39) |
Y709H |
probably damaging |
Het |
|
Other mutations in Adcy9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00094:Adcy9
|
APN |
16 |
4,122,446 (GRCm39) |
missense |
probably benign |
|
IGL00326:Adcy9
|
APN |
16 |
4,112,560 (GRCm39) |
missense |
probably benign |
|
IGL00792:Adcy9
|
APN |
16 |
4,106,403 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01610:Adcy9
|
APN |
16 |
4,235,978 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02376:Adcy9
|
APN |
16 |
4,236,544 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02424:Adcy9
|
APN |
16 |
4,106,461 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03097:Adcy9
|
UTSW |
16 |
4,235,930 (GRCm39) |
missense |
possibly damaging |
0.94 |
PIT4243001:Adcy9
|
UTSW |
16 |
4,236,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R0043:Adcy9
|
UTSW |
16 |
4,106,879 (GRCm39) |
missense |
probably benign |
0.12 |
R0085:Adcy9
|
UTSW |
16 |
4,106,088 (GRCm39) |
missense |
probably benign |
|
R0105:Adcy9
|
UTSW |
16 |
4,106,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R0105:Adcy9
|
UTSW |
16 |
4,106,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R0371:Adcy9
|
UTSW |
16 |
4,105,911 (GRCm39) |
missense |
probably benign |
0.06 |
R0613:Adcy9
|
UTSW |
16 |
4,237,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R0689:Adcy9
|
UTSW |
16 |
4,130,668 (GRCm39) |
splice site |
probably benign |
|
R0744:Adcy9
|
UTSW |
16 |
4,237,135 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0836:Adcy9
|
UTSW |
16 |
4,237,135 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1223:Adcy9
|
UTSW |
16 |
4,116,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R1251:Adcy9
|
UTSW |
16 |
4,129,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R1689:Adcy9
|
UTSW |
16 |
4,115,426 (GRCm39) |
splice site |
probably null |
|
R1922:Adcy9
|
UTSW |
16 |
4,129,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R1955:Adcy9
|
UTSW |
16 |
4,236,523 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1989:Adcy9
|
UTSW |
16 |
4,116,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R1998:Adcy9
|
UTSW |
16 |
4,115,276 (GRCm39) |
missense |
probably benign |
0.00 |
R2321:Adcy9
|
UTSW |
16 |
4,106,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R3160:Adcy9
|
UTSW |
16 |
4,129,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R3161:Adcy9
|
UTSW |
16 |
4,129,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R3162:Adcy9
|
UTSW |
16 |
4,129,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R4065:Adcy9
|
UTSW |
16 |
4,106,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Adcy9
|
UTSW |
16 |
4,116,618 (GRCm39) |
missense |
probably benign |
0.03 |
R5078:Adcy9
|
UTSW |
16 |
4,141,771 (GRCm39) |
missense |
probably benign |
0.00 |
R5870:Adcy9
|
UTSW |
16 |
4,236,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R5968:Adcy9
|
UTSW |
16 |
4,116,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R5975:Adcy9
|
UTSW |
16 |
4,129,431 (GRCm39) |
missense |
probably damaging |
0.98 |
R6014:Adcy9
|
UTSW |
16 |
4,236,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Adcy9
|
UTSW |
16 |
4,122,377 (GRCm39) |
missense |
probably benign |
|
R6035:Adcy9
|
UTSW |
16 |
4,122,377 (GRCm39) |
missense |
probably benign |
|
R6081:Adcy9
|
UTSW |
16 |
4,112,545 (GRCm39) |
missense |
probably benign |
|
R6192:Adcy9
|
UTSW |
16 |
4,105,818 (GRCm39) |
missense |
probably benign |
|
R6604:Adcy9
|
UTSW |
16 |
4,122,271 (GRCm39) |
missense |
probably damaging |
0.98 |
R6739:Adcy9
|
UTSW |
16 |
4,236,658 (GRCm39) |
missense |
probably benign |
|
R6829:Adcy9
|
UTSW |
16 |
4,125,018 (GRCm39) |
critical splice donor site |
probably null |
|
R6986:Adcy9
|
UTSW |
16 |
4,129,441 (GRCm39) |
missense |
probably damaging |
0.99 |
R7491:Adcy9
|
UTSW |
16 |
4,236,673 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7561:Adcy9
|
UTSW |
16 |
4,236,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R7614:Adcy9
|
UTSW |
16 |
4,236,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R7803:Adcy9
|
UTSW |
16 |
4,122,244 (GRCm39) |
missense |
probably benign |
0.11 |
R7993:Adcy9
|
UTSW |
16 |
4,235,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R8444:Adcy9
|
UTSW |
16 |
4,106,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R8519:Adcy9
|
UTSW |
16 |
4,105,992 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8546:Adcy9
|
UTSW |
16 |
4,236,769 (GRCm39) |
missense |
probably benign |
0.02 |
R8751:Adcy9
|
UTSW |
16 |
4,129,492 (GRCm39) |
missense |
probably damaging |
0.97 |
R9004:Adcy9
|
UTSW |
16 |
4,106,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R9076:Adcy9
|
UTSW |
16 |
4,106,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R9351:Adcy9
|
UTSW |
16 |
4,236,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R9491:Adcy9
|
UTSW |
16 |
4,236,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R9571:Adcy9
|
UTSW |
16 |
4,141,653 (GRCm39) |
missense |
probably benign |
0.14 |
R9614:Adcy9
|
UTSW |
16 |
4,106,547 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Adcy9
|
UTSW |
16 |
4,141,780 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Adcy9
|
UTSW |
16 |
4,125,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCTTAAAAGCTGTCTTCTGACTTC -3'
(R):5'- TCTGTCTTGAGGCAGGCTTC -3'
Sequencing Primer
(F):5'- AAAGCTGTCTTCTGACTTCCAATG -3'
(R):5'- GCTTCTGGAGGACCCAACTC -3'
|
Posted On |
2015-10-08 |