Incidental Mutation 'R5620:Adcy4'
| ID |
439807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy4
|
| Ensembl Gene |
ENSMUSG00000022220 |
| Gene Name |
adenylate cyclase 4 |
| Synonyms |
|
| MMRRC Submission |
043160-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5620 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56006514-56021552 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 56009824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 743
(E743*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002398]
[ENSMUST00000057569]
[ENSMUST00000170223]
|
| AlphaFold |
Q91WF3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002398
AA Change: E743*
|
| SMART Domains |
Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: E743*
| 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 benign
Transcript: ENSMUST00000057569
|
| SMART Domains |
Protein: ENSMUSP00000051368
Gene: ENSMUSG00000046908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
28 |
196 |
7.4e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
31 |
249 |
2e-8 |
PFAM |
|
Pfam:7tm_1
|
37 |
285 |
1.3e-42 |
PFAM |
|
Pfam:Serpentine_r_xa
|
54 |
201 |
2.8e-4 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170223
AA Change: E743*
|
| SMART Domains |
Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: E743*
| 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 |
noncoding transcript
Transcript: ENSMUST00000226361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226575
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228933
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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). 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
C |
15: 102,246,826 (GRCm39) |
S511A |
probably benign |
Het |
| Abca3 |
C |
T |
17: 24,615,444 (GRCm39) |
T845I |
probably benign |
Het |
| Acaa2 |
G |
A |
18: 74,938,945 (GRCm39) |
A377T |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,990,458 (GRCm39) |
L3914* |
probably null |
Het |
| Akap1 |
G |
T |
11: 88,736,343 (GRCm39) |
N106K |
possibly damaging |
Het |
| Arid2 |
C |
T |
15: 96,270,387 (GRCm39) |
T1500I |
probably benign |
Het |
| Atp6v0a2 |
T |
A |
5: 124,783,909 (GRCm39) |
Y252* |
probably null |
Het |
| C4bp |
A |
G |
1: 130,581,090 (GRCm39) |
S140P |
probably damaging |
Het |
| Cald1 |
A |
G |
6: 34,739,047 (GRCm39) |
I384M |
probably damaging |
Het |
| Cdk12 |
A |
G |
11: 98,101,809 (GRCm39) |
I556V |
unknown |
Het |
| Chmp2a |
T |
C |
7: 12,766,237 (GRCm39) |
S174G |
probably benign |
Het |
| Clybl |
T |
A |
14: 122,548,755 (GRCm39) |
N52K |
probably damaging |
Het |
| Cyp4a29 |
C |
A |
4: 115,108,088 (GRCm39) |
S303R |
probably benign |
Het |
| Dab2 |
T |
A |
15: 6,447,796 (GRCm39) |
D59E |
probably damaging |
Het |
| Dag1 |
C |
A |
9: 108,086,214 (GRCm39) |
R309L |
probably damaging |
Het |
| Dync1i2 |
T |
A |
2: 71,088,483 (GRCm39) |
M505K |
probably benign |
Het |
| Eif2b1 |
A |
T |
5: 124,717,075 (GRCm39) |
M1K |
probably null |
Het |
| Epc1 |
A |
G |
18: 6,448,917 (GRCm39) |
S577P |
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,463,945 (GRCm39) |
I23N |
possibly damaging |
Het |
| Etl4 |
A |
G |
2: 20,535,037 (GRCm39) |
E164G |
probably damaging |
Het |
| Firrm |
C |
A |
1: 163,789,613 (GRCm39) |
G641* |
probably null |
Het |
| Gadl1 |
A |
T |
9: 115,766,230 (GRCm39) |
M1L |
probably benign |
Het |
| Gda |
T |
C |
19: 21,374,908 (GRCm39) |
D336G |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,527,645 (GRCm39) |
V413D |
probably damaging |
Het |
| Hnrnpll |
G |
T |
17: 80,346,051 (GRCm39) |
N403K |
probably damaging |
Het |
| Ifit1 |
T |
A |
19: 34,625,238 (GRCm39) |
F125I |
probably damaging |
Het |
| Igkv5-43 |
C |
T |
6: 69,800,892 (GRCm39) |
V2I |
probably benign |
Het |
| Kat5 |
A |
C |
19: 5,659,507 (GRCm39) |
Y44* |
probably null |
Het |
| Klc2 |
A |
G |
19: 5,162,884 (GRCm39) |
V205A |
probably damaging |
Het |
| Klrb1c |
T |
A |
6: 128,761,706 (GRCm39) |
T133S |
possibly damaging |
Het |
| Krt20 |
A |
G |
11: 99,326,283 (GRCm39) |
L157P |
probably damaging |
Het |
| Krt26 |
G |
T |
11: 99,228,597 (GRCm39) |
T45N |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 26,866,876 (GRCm39) |
D2873N |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,020,532 (GRCm39) |
C114S |
possibly damaging |
Het |
| Lonp1 |
G |
C |
17: 56,927,263 (GRCm39) |
A330G |
probably benign |
Het |
| Maml2 |
A |
T |
9: 13,608,616 (GRCm39) |
R21S |
probably damaging |
Het |
| Mrpl35 |
C |
T |
6: 71,794,720 (GRCm39) |
V83I |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,069,254 (GRCm39) |
R498G |
probably benign |
Het |
| Nup153 |
C |
A |
13: 46,837,482 (GRCm39) |
E1247* |
probably null |
Het |
| Or2t48 |
A |
T |
11: 58,420,557 (GRCm39) |
M85K |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,257 (GRCm39) |
N79S |
probably benign |
Het |
| Pcgf6 |
C |
T |
19: 47,036,406 (GRCm39) |
G221D |
probably damaging |
Het |
| Phf11b |
C |
T |
14: 59,558,953 (GRCm39) |
D260N |
probably benign |
Het |
| Pla2g5 |
T |
C |
4: 138,531,921 (GRCm39) |
M28V |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,395,927 (GRCm39) |
S1934P |
possibly damaging |
Het |
| Prr5 |
A |
G |
15: 84,640,570 (GRCm39) |
S140G |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,501,098 (GRCm39) |
D1235G |
probably damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,455,031 (GRCm39) |
S254P |
probably damaging |
Het |
| Rassf8 |
C |
T |
6: 145,765,907 (GRCm39) |
|
probably benign |
Het |
| Rgs20 |
T |
A |
1: 4,982,666 (GRCm39) |
E167D |
probably damaging |
Het |
| Rmnd1 |
G |
T |
10: 4,372,159 (GRCm39) |
A180E |
probably damaging |
Het |
| Rnf103 |
A |
G |
6: 71,486,992 (GRCm39) |
D541G |
probably benign |
Het |
| Rpl9 |
G |
T |
5: 65,546,468 (GRCm39) |
Q140K |
probably benign |
Het |
| Sfmbt1 |
T |
G |
14: 30,506,148 (GRCm39) |
|
probably null |
Het |
| Shank1 |
C |
A |
7: 43,962,160 (GRCm39) |
D10E |
unknown |
Het |
| Srrm4 |
G |
T |
5: 116,587,672 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
T |
A |
14: 73,832,836 (GRCm39) |
V447E |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,331,055 (GRCm39) |
D78G |
probably benign |
Het |
| Tcp1 |
T |
A |
17: 13,138,224 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
C |
A |
19: 40,597,361 (GRCm39) |
E230* |
probably null |
Het |
| Thsd7b |
G |
A |
1: 130,090,673 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
A |
G |
1: 180,797,811 (GRCm39) |
M621V |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,936,504 (GRCm39) |
K2756* |
probably null |
Het |
| Trpm8 |
G |
A |
1: 88,287,373 (GRCm39) |
|
probably null |
Het |
| Txndc16 |
C |
A |
14: 45,373,335 (GRCm39) |
V764F |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,492,020 (GRCm39) |
D3103V |
possibly damaging |
Het |
| Usp22 |
A |
T |
11: 61,049,206 (GRCm39) |
I381N |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,013,464 (GRCm39) |
M1810K |
probably benign |
Het |
| Zfp64 |
T |
A |
2: 168,741,888 (GRCm39) |
M347L |
possibly damaging |
Het |
| Zfp69 |
T |
C |
4: 120,787,719 (GRCm39) |
D532G |
probably 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 |
|
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 |
|
R9026:Adcy4
|
UTSW |
14 |
56,016,426 (GRCm39) |
missense |
probably damaging |
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'- GTGTCCTATCCTAGCCACAGTC -3'
(R):5'- TTTGTACAGCCCTGGGTCTC -3'
Sequencing Primer
(F):5'- TATCCTAGCCACAGTCCCGAGG -3'
(R):5'- GTGAATGACAGCCCTATTTGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation