Incidental Mutation 'R4411:Adcy4'
| ID |
327934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adcy4
|
| Ensembl Gene |
ENSMUSG00000022220 |
| Gene Name |
adenylate cyclase 4 |
| Synonyms |
|
| MMRRC Submission |
041693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56006514-56021552 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56006900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1006
(Y1006C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002398]
[ENSMUST00000057569]
[ENSMUST00000170223]
|
| AlphaFold |
Q91WF3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002398
AA Change: Y1006C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: Y1006C
| 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 damaging
Transcript: ENSMUST00000170223
AA Change: Y1006C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: Y1006C
| 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: ENSMUST00000228302
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228933
|
| Meta Mutation Damage Score |
0.9654 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
95% (62/65) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,042,781 (GRCm39) |
I423V |
probably benign |
Het |
| Abl2 |
T |
C |
1: 156,457,652 (GRCm39) |
V306A |
possibly damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,932,519 (GRCm39) |
R885G |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,503,853 (GRCm39) |
V613E |
probably damaging |
Het |
| Atxn7l1 |
G |
T |
12: 33,244,886 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
C |
A |
18: 34,756,497 (GRCm39) |
|
probably benign |
Het |
| Bsnd |
C |
T |
4: 106,343,868 (GRCm39) |
R146H |
probably benign |
Het |
| C4b |
C |
T |
17: 34,947,838 (GRCm39) |
R1659H |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,168,115 (GRCm39) |
R1080H |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,916,326 (GRCm39) |
|
probably null |
Het |
| Fbxo44 |
G |
A |
4: 148,238,065 (GRCm39) |
R221C |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,881,481 (GRCm39) |
D166G |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,207 (GRCm39) |
L269P |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,364,582 (GRCm39) |
E954G |
probably damaging |
Het |
| Gpc6 |
T |
C |
14: 118,188,590 (GRCm39) |
V408A |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,289,535 (GRCm39) |
T3832A |
probably benign |
Het |
| Ift88 |
A |
G |
14: 57,715,436 (GRCm39) |
N493S |
probably damaging |
Het |
| Ighv1-76 |
A |
T |
12: 115,811,731 (GRCm39) |
C41S |
probably damaging |
Het |
| Igkv12-46 |
G |
A |
6: 69,741,930 (GRCm39) |
T16I |
probably benign |
Het |
| Igkv3-9 |
G |
T |
6: 70,565,547 (GRCm39) |
V49F |
probably damaging |
Het |
| Isoc2b |
A |
T |
7: 4,852,433 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
T |
A |
11: 34,037,173 (GRCm39) |
|
probably benign |
Het |
| Lmntd1 |
A |
G |
6: 145,373,003 (GRCm39) |
|
probably null |
Het |
| Mdm2 |
A |
T |
10: 117,545,694 (GRCm39) |
|
probably null |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,746 (GRCm39) |
|
noncoding transcript |
Het |
| Msh2 |
T |
C |
17: 88,025,032 (GRCm39) |
S637P |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,831,345 (GRCm39) |
F765S |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,047,857 (GRCm39) |
N91K |
probably benign |
Het |
| Ndor1 |
G |
A |
2: 25,138,492 (GRCm39) |
P363S |
probably benign |
Het |
| Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,050 (GRCm39) |
S477P |
possibly damaging |
Het |
| Pde3b |
GTGATGATGATGATGATGATGATGATG |
GTGATGATGATGATGATGATGATG |
7: 114,133,984 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
G |
A |
2: 24,941,716 (GRCm39) |
W13* |
probably null |
Het |
| Pnpla8 |
T |
C |
12: 44,330,225 (GRCm39) |
V41A |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,860,240 (GRCm39) |
S1017T |
probably benign |
Het |
| Prdm5 |
T |
A |
6: 65,878,771 (GRCm39) |
Y108* |
probably null |
Het |
| Rab34 |
T |
A |
11: 78,079,592 (GRCm39) |
|
probably null |
Het |
| Skic3 |
A |
G |
13: 76,275,623 (GRCm39) |
E410G |
possibly damaging |
Het |
| Smpd5 |
G |
T |
15: 76,179,112 (GRCm39) |
R160L |
possibly damaging |
Het |
| Spmip10 |
A |
G |
18: 56,727,720 (GRCm39) |
T65A |
probably benign |
Het |
| Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
| Taf5 |
T |
A |
19: 47,059,453 (GRCm39) |
V199D |
probably damaging |
Het |
| Tas2r114 |
C |
T |
6: 131,666,585 (GRCm39) |
V148I |
probably benign |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tnfrsf25 |
G |
A |
4: 152,202,843 (GRCm39) |
|
probably benign |
Het |
| Tpd52l1 |
T |
C |
10: 31,255,315 (GRCm39) |
T11A |
possibly damaging |
Het |
| Trmt1l |
G |
A |
1: 151,327,905 (GRCm39) |
E472K |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,173,098 (GRCm39) |
K766E |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,560,633 (GRCm39) |
R29256Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,572,414 (GRCm39) |
I26160V |
probably damaging |
Het |
| Ubxn6 |
A |
T |
17: 56,376,303 (GRCm39) |
V311E |
probably damaging |
Het |
| Usp2 |
T |
C |
9: 44,002,360 (GRCm39) |
S351P |
probably damaging |
Het |
| Usp7 |
C |
A |
16: 8,526,778 (GRCm39) |
D187Y |
probably damaging |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,511,360 (GRCm39) |
K481M |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
| Zfp455 |
A |
T |
13: 67,355,389 (GRCm39) |
N219I |
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 |
|
|
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 |
|
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'- TCCTCAGTCACCTGCAATTG -3'
(R):5'- CCTTGGCTGAAGCATAAAGC -3'
Sequencing Primer
(F):5'- CTCAGTCACCTGCAATTGGAAGAG -3'
(R):5'- CTGTTAGTTCAAGAGCAAAGAGAGCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation