Incidental Mutation 'R9026:Adcy4'
ID |
686768 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy4
|
Ensembl Gene |
ENSMUSG00000022220 |
Gene Name |
adenylate cyclase 4 |
Synonyms |
|
MMRRC Submission |
068855-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9026 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
56006514-56021552 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 56016426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 342
(V342L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002398]
[ENSMUST00000170223]
[ENSMUST00000227031]
|
AlphaFold |
Q91WF3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002398
AA Change: V342L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000002398 Gene: ENSMUSG00000022220 AA Change: V342L
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
48 |
N/A |
INTRINSIC |
low complexity region
|
66 |
80 |
N/A |
INTRINSIC |
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
CYCc
|
218 |
426 |
1.56e-62 |
SMART |
Pfam:DUF1053
|
479 |
581 |
2.4e-35 |
PFAM |
transmembrane domain
|
607 |
629 |
N/A |
INTRINSIC |
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
transmembrane domain
|
717 |
739 |
N/A |
INTRINSIC |
transmembrane domain
|
746 |
768 |
N/A |
INTRINSIC |
transmembrane domain
|
792 |
809 |
N/A |
INTRINSIC |
CYCc
|
835 |
1057 |
4.46e-40 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170223
AA Change: V342L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130530 Gene: ENSMUSG00000022220 AA Change: V342L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
transmembrane domain
|
61 |
80 |
N/A |
INTRINSIC |
transmembrane domain
|
92 |
114 |
N/A |
INTRINSIC |
transmembrane domain
|
119 |
138 |
N/A |
INTRINSIC |
transmembrane domain
|
145 |
162 |
N/A |
INTRINSIC |
transmembrane domain
|
172 |
194 |
N/A |
INTRINSIC |
CYCc
|
218 |
426 |
1.56e-62 |
SMART |
Pfam:DUF1053
|
479 |
581 |
1.6e-24 |
PFAM |
transmembrane domain
|
607 |
629 |
N/A |
INTRINSIC |
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
transmembrane domain
|
717 |
739 |
N/A |
INTRINSIC |
transmembrane domain
|
746 |
768 |
N/A |
INTRINSIC |
transmembrane domain
|
792 |
809 |
N/A |
INTRINSIC |
CYCc
|
835 |
1057 |
4.46e-40 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227031
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (81/81) |
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). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] PHENOTYPE: Mice homozygous for disruptions of this gene display a normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
A |
3: 137,770,909 (GRCm39) |
Q33K |
possibly damaging |
Het |
Acap2 |
A |
G |
16: 30,925,906 (GRCm39) |
L550P |
probably damaging |
Het |
Acsm3 |
A |
T |
7: 119,373,845 (GRCm39) |
S244C |
probably benign |
Het |
Adam28 |
T |
A |
14: 68,846,593 (GRCm39) |
D740V |
probably benign |
Het |
Adcyap1r1 |
A |
G |
6: 55,458,107 (GRCm39) |
T303A |
probably benign |
Het |
Agr2 |
T |
C |
12: 36,046,091 (GRCm39) |
V74A |
probably benign |
Het |
Akp3 |
A |
T |
1: 87,054,786 (GRCm39) |
T374S |
possibly damaging |
Het |
Ankrd36 |
A |
T |
11: 5,610,696 (GRCm39) |
I1181L |
probably benign |
Het |
Arhgap11a |
A |
T |
2: 113,664,411 (GRCm39) |
V624E |
probably benign |
Het |
Arhgap30 |
A |
T |
1: 171,228,258 (GRCm39) |
D112V |
probably damaging |
Het |
Atp8b4 |
A |
G |
2: 126,184,883 (GRCm39) |
F927L |
probably benign |
Het |
Bend4 |
C |
A |
5: 67,584,475 (GRCm39) |
G150C |
unknown |
Het |
Cd300lg |
T |
A |
11: 101,944,998 (GRCm39) |
S403T |
probably damaging |
Het |
Cep57l1 |
T |
A |
10: 41,607,086 (GRCm39) |
Q159L |
probably damaging |
Het |
Cipc |
C |
T |
12: 86,999,634 (GRCm39) |
T57M |
probably damaging |
Het |
Def8 |
T |
C |
8: 124,186,391 (GRCm39) |
C377R |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,720,746 (GRCm39) |
D1285G |
probably damaging |
Het |
Efcab10 |
A |
G |
12: 33,448,398 (GRCm39) |
D77G |
probably damaging |
Het |
Eml4 |
C |
T |
17: 83,764,479 (GRCm39) |
T663M |
probably damaging |
Het |
Ercc8 |
A |
G |
13: 108,320,389 (GRCm39) |
E325G |
possibly damaging |
Het |
Ermap |
C |
A |
4: 119,035,240 (GRCm39) |
A583S |
probably damaging |
Het |
F13a1 |
C |
T |
13: 37,102,506 (GRCm39) |
G406S |
probably null |
Het |
Faap20 |
T |
A |
4: 155,335,426 (GRCm39) |
C141S |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,616,536 (GRCm39) |
T904A |
possibly damaging |
Het |
Garin2 |
T |
C |
12: 78,757,097 (GRCm39) |
F18S |
probably benign |
Het |
Gas8 |
A |
G |
8: 124,260,134 (GRCm39) |
D455G |
probably benign |
Het |
Gm21863 |
T |
C |
12: 20,004,521 (GRCm39) |
S6P |
probably damaging |
Het |
Gm4841 |
A |
T |
18: 60,403,988 (GRCm39) |
I35N |
probably damaging |
Het |
Grk4 |
T |
A |
5: 34,877,084 (GRCm39) |
C260S |
probably damaging |
Het |
Huwe1 |
G |
A |
X: 150,716,084 (GRCm39) |
R4331Q |
unknown |
Het |
Ighv5-6 |
A |
G |
12: 113,589,247 (GRCm39) |
Y78H |
probably benign |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Kl |
T |
A |
5: 150,876,491 (GRCm39) |
S104T |
probably benign |
Het |
Lyve1 |
C |
A |
7: 110,453,182 (GRCm39) |
C138F |
probably damaging |
Het |
Med27 |
G |
A |
2: 29,399,446 (GRCm39) |
W92* |
probably null |
Het |
Mical3 |
A |
T |
6: 120,986,848 (GRCm39) |
|
probably benign |
Het |
Mrgpra4 |
C |
A |
7: 47,631,208 (GRCm39) |
R131L |
possibly damaging |
Het |
Myf5 |
T |
C |
10: 107,321,308 (GRCm39) |
N162S |
probably benign |
Het |
Myh15 |
G |
A |
16: 49,007,433 (GRCm39) |
E1835K |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,716,757 (GRCm39) |
Y486N |
probably damaging |
Het |
Ncapg |
T |
A |
5: 45,853,115 (GRCm39) |
N860K |
probably benign |
Het |
Nr4a3 |
T |
C |
4: 48,052,194 (GRCm39) |
F316S |
possibly damaging |
Het |
Nsd3 |
T |
A |
8: 26,172,576 (GRCm39) |
S778R |
probably benign |
Het |
Or2r2 |
A |
G |
6: 42,463,795 (GRCm39) |
F111L |
probably damaging |
Het |
Or4c119 |
A |
T |
2: 88,986,988 (GRCm39) |
V177E |
probably benign |
Het |
Or4c31 |
A |
G |
2: 88,292,196 (GRCm39) |
I190V |
probably damaging |
Het |
Or5p6 |
A |
G |
7: 107,631,286 (GRCm39) |
F88S |
probably damaging |
Het |
Or7e173 |
T |
C |
9: 19,938,344 (GRCm39) |
N297D |
|
Het |
Or8b37 |
T |
A |
9: 37,958,885 (GRCm39) |
Y122* |
probably null |
Het |
Or8w1 |
A |
T |
2: 87,465,369 (GRCm39) |
C241S |
probably damaging |
Het |
Or9m2 |
A |
G |
2: 87,820,568 (GRCm39) |
T38A |
probably damaging |
Het |
Pdlim4 |
C |
T |
11: 53,946,280 (GRCm39) |
G231S |
probably benign |
Het |
Pknox2 |
C |
T |
9: 36,821,044 (GRCm39) |
V273I |
possibly damaging |
Het |
Pm20d1 |
A |
G |
1: 131,739,822 (GRCm39) |
H390R |
probably benign |
Het |
Prkg2 |
A |
T |
5: 99,114,386 (GRCm39) |
D587E |
probably benign |
Het |
Prps1l1 |
T |
A |
12: 35,035,546 (GRCm39) |
D220E |
possibly damaging |
Het |
Prss3l |
A |
G |
6: 41,422,990 (GRCm39) |
F4L |
probably benign |
Het |
Ptchd3 |
T |
C |
11: 121,721,682 (GRCm39) |
V185A |
possibly damaging |
Het |
Rag2 |
A |
T |
2: 101,460,494 (GRCm39) |
N268I |
possibly damaging |
Het |
Rarres2 |
A |
G |
6: 48,549,020 (GRCm39) |
|
probably null |
Het |
Rrp12 |
T |
C |
19: 41,860,223 (GRCm39) |
H1000R |
probably benign |
Het |
S100a2 |
A |
T |
3: 90,498,811 (GRCm39) |
Y104F |
unknown |
Het |
Sell |
A |
G |
1: 163,893,042 (GRCm39) |
Y86C |
probably damaging |
Het |
Serpinb6d |
A |
T |
13: 33,851,656 (GRCm39) |
T138S |
possibly damaging |
Het |
Slamf7 |
T |
A |
1: 171,466,312 (GRCm39) |
I228F |
probably benign |
Het |
Slc11a1 |
G |
A |
1: 74,416,325 (GRCm39) |
V92M |
probably damaging |
Het |
Spi1 |
A |
G |
2: 90,912,862 (GRCm39) |
N5S |
unknown |
Het |
Stard9 |
G |
T |
2: 120,536,283 (GRCm39) |
D4151Y |
probably damaging |
Het |
Stmnd1 |
A |
G |
13: 46,452,983 (GRCm39) |
T220A |
probably benign |
Het |
Tacc2 |
G |
T |
7: 130,225,266 (GRCm39) |
W650C |
probably damaging |
Het |
Tmc5 |
A |
G |
7: 118,241,594 (GRCm39) |
N429S |
possibly damaging |
Het |
Tmem201 |
A |
C |
4: 149,812,627 (GRCm39) |
L230V |
probably benign |
Het |
Tmem222 |
T |
C |
4: 132,997,119 (GRCm39) |
E94G |
possibly damaging |
Het |
Trappc4 |
A |
G |
9: 44,315,655 (GRCm39) |
F186S |
probably damaging |
Het |
Trim17 |
A |
G |
11: 58,862,273 (GRCm39) |
N435S |
probably benign |
Het |
Trim68 |
A |
T |
7: 102,329,447 (GRCm39) |
L227Q |
probably damaging |
Het |
Tuba3b |
T |
G |
6: 145,563,996 (GRCm39) |
V14G |
possibly damaging |
Het |
Ubr2 |
G |
T |
17: 47,245,041 (GRCm39) |
H1662N |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,861,863 (GRCm39) |
V2915E |
probably damaging |
Het |
Vsig10 |
C |
T |
5: 117,476,323 (GRCm39) |
T259I |
probably benign |
Het |
Zfp267 |
A |
G |
3: 36,219,066 (GRCm39) |
Y363C |
possibly damaging |
Het |
|
Other mutations in Adcy4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00917:Adcy4
|
APN |
14 |
56,011,120 (GRCm39) |
splice site |
probably null |
|
IGL02406:Adcy4
|
APN |
14 |
56,007,504 (GRCm39) |
missense |
possibly damaging |
0.45 |
IGL02503:Adcy4
|
APN |
14 |
56,008,962 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02543:Adcy4
|
APN |
14 |
56,006,627 (GRCm39) |
missense |
probably benign |
|
IGL02616:Adcy4
|
APN |
14 |
56,020,971 (GRCm39) |
splice site |
probably null |
|
IGL03002:Adcy4
|
APN |
14 |
56,011,013 (GRCm39) |
missense |
probably benign |
0.31 |
IGL03026:Adcy4
|
APN |
14 |
56,015,467 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03190:Adcy4
|
APN |
14 |
56,016,510 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03247:Adcy4
|
APN |
14 |
56,007,553 (GRCm39) |
missense |
probably damaging |
1.00 |
stressed
|
UTSW |
14 |
56,016,556 (GRCm39) |
splice site |
probably null |
|
IGL03098:Adcy4
|
UTSW |
14 |
56,019,038 (GRCm39) |
missense |
probably null |
0.82 |
R0098:Adcy4
|
UTSW |
14 |
56,007,284 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0102:Adcy4
|
UTSW |
14 |
56,008,990 (GRCm39) |
missense |
probably benign |
0.29 |
R0396:Adcy4
|
UTSW |
14 |
56,009,745 (GRCm39) |
missense |
probably benign |
0.00 |
R0482:Adcy4
|
UTSW |
14 |
56,012,029 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0634:Adcy4
|
UTSW |
14 |
56,019,054 (GRCm39) |
missense |
probably benign |
|
R0691:Adcy4
|
UTSW |
14 |
56,010,104 (GRCm39) |
splice site |
probably benign |
|
R0704:Adcy4
|
UTSW |
14 |
56,010,213 (GRCm39) |
missense |
probably benign |
|
R0815:Adcy4
|
UTSW |
14 |
56,021,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R0863:Adcy4
|
UTSW |
14 |
56,021,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R1446:Adcy4
|
UTSW |
14 |
56,007,480 (GRCm39) |
critical splice donor site |
probably null |
|
R1462:Adcy4
|
UTSW |
14 |
56,015,765 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1462:Adcy4
|
UTSW |
14 |
56,015,765 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1463:Adcy4
|
UTSW |
14 |
56,016,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R1624:Adcy4
|
UTSW |
14 |
56,019,384 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1799:Adcy4
|
UTSW |
14 |
56,008,929 (GRCm39) |
missense |
probably benign |
0.01 |
R1878:Adcy4
|
UTSW |
14 |
56,007,362 (GRCm39) |
missense |
probably damaging |
0.96 |
R2007:Adcy4
|
UTSW |
14 |
56,015,770 (GRCm39) |
missense |
possibly damaging |
0.45 |
R2156:Adcy4
|
UTSW |
14 |
56,006,627 (GRCm39) |
missense |
probably benign |
0.09 |
R2425:Adcy4
|
UTSW |
14 |
56,015,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R2517:Adcy4
|
UTSW |
14 |
56,019,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R3882:Adcy4
|
UTSW |
14 |
56,012,003 (GRCm39) |
missense |
probably benign |
0.27 |
R4021:Adcy4
|
UTSW |
14 |
56,012,635 (GRCm39) |
splice site |
probably null |
|
R4022:Adcy4
|
UTSW |
14 |
56,012,635 (GRCm39) |
splice site |
probably null |
|
R4411:Adcy4
|
UTSW |
14 |
56,006,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R4530:Adcy4
|
UTSW |
14 |
56,016,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R4560:Adcy4
|
UTSW |
14 |
56,016,407 (GRCm39) |
splice site |
probably null |
|
R4704:Adcy4
|
UTSW |
14 |
56,012,482 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4780:Adcy4
|
UTSW |
14 |
56,012,493 (GRCm39) |
missense |
probably benign |
0.07 |
R4860:Adcy4
|
UTSW |
14 |
56,019,384 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4860:Adcy4
|
UTSW |
14 |
56,019,384 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4868:Adcy4
|
UTSW |
14 |
56,011,179 (GRCm39) |
missense |
probably benign |
|
R4890:Adcy4
|
UTSW |
14 |
56,016,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R4920:Adcy4
|
UTSW |
14 |
56,016,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R4948:Adcy4
|
UTSW |
14 |
56,016,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R4952:Adcy4
|
UTSW |
14 |
56,016,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R4953:Adcy4
|
UTSW |
14 |
56,016,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R4987:Adcy4
|
UTSW |
14 |
56,010,934 (GRCm39) |
missense |
probably benign |
0.01 |
R4991:Adcy4
|
UTSW |
14 |
56,010,922 (GRCm39) |
missense |
probably benign |
0.03 |
R5080:Adcy4
|
UTSW |
14 |
56,009,832 (GRCm39) |
missense |
probably damaging |
0.98 |
R5620:Adcy4
|
UTSW |
14 |
56,009,824 (GRCm39) |
nonsense |
probably null |
|
R5652:Adcy4
|
UTSW |
14 |
56,010,900 (GRCm39) |
missense |
probably benign |
|
R5726:Adcy4
|
UTSW |
14 |
56,021,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R5910:Adcy4
|
UTSW |
14 |
56,016,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R5958:Adcy4
|
UTSW |
14 |
56,016,556 (GRCm39) |
splice site |
probably null |
|
R6280:Adcy4
|
UTSW |
14 |
56,016,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R6318:Adcy4
|
UTSW |
14 |
56,006,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R6598:Adcy4
|
UTSW |
14 |
56,007,502 (GRCm39) |
missense |
probably benign |
0.03 |
R6947:Adcy4
|
UTSW |
14 |
56,015,848 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7012:Adcy4
|
UTSW |
14 |
56,017,376 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7147:Adcy4
|
UTSW |
14 |
56,017,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R7386:Adcy4
|
UTSW |
14 |
56,015,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R7414:Adcy4
|
UTSW |
14 |
56,019,090 (GRCm39) |
missense |
probably benign |
0.15 |
R7431:Adcy4
|
UTSW |
14 |
56,010,129 (GRCm39) |
missense |
probably benign |
0.01 |
R7490:Adcy4
|
UTSW |
14 |
56,007,890 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7552:Adcy4
|
UTSW |
14 |
56,010,922 (GRCm39) |
missense |
probably benign |
0.00 |
R7672:Adcy4
|
UTSW |
14 |
56,018,362 (GRCm39) |
missense |
probably benign |
0.14 |
R8003:Adcy4
|
UTSW |
14 |
56,019,092 (GRCm39) |
missense |
probably benign |
0.00 |
R8042:Adcy4
|
UTSW |
14 |
56,012,696 (GRCm39) |
missense |
probably benign |
0.01 |
R8100:Adcy4
|
UTSW |
14 |
56,009,722 (GRCm39) |
nonsense |
probably null |
|
R8343:Adcy4
|
UTSW |
14 |
56,012,697 (GRCm39) |
missense |
probably benign |
0.02 |
R8801:Adcy4
|
UTSW |
14 |
56,009,452 (GRCm39) |
missense |
probably benign |
0.05 |
R8811:Adcy4
|
UTSW |
14 |
56,010,221 (GRCm39) |
missense |
probably benign |
|
R8993:Adcy4
|
UTSW |
14 |
56,016,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R8993:Adcy4
|
UTSW |
14 |
56,008,835 (GRCm39) |
missense |
probably null |
1.00 |
X0025:Adcy4
|
UTSW |
14 |
56,007,848 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Adcy4
|
UTSW |
14 |
56,018,413 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGTTGATATCCACACCGGTG -3'
(R):5'- GTTCTCCAGGAATGCCACAG -3'
Sequencing Primer
(F):5'- TACCCGAAGTTTCCTGAGCAGAG -3'
(R):5'- AGGAATGCCACAGTTGCTC -3'
|
Posted On |
2021-11-19 |