Incidental Mutation 'R6318:Adcy4'
ID |
510313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy4
|
Ensembl Gene |
ENSMUSG00000022220 |
Gene Name |
adenylate cyclase 4 |
Synonyms |
|
MMRRC Submission |
044473-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6318 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
56006514-56021552 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 56006681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 1051
(I1051F)
|
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: I1051F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002398 Gene: ENSMUSG00000022220 AA Change: I1051F
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: I1051F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130530 Gene: ENSMUSG00000022220 AA Change: I1051F
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 |
0.5399 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.3%
|
Validation Efficiency |
99% (74/75) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
A |
G |
9: 108,270,474 (GRCm39) |
T13A |
possibly damaging |
Het |
Abcg4 |
T |
C |
9: 44,186,645 (GRCm39) |
T500A |
probably benign |
Het |
Adgrg6 |
A |
T |
10: 14,343,241 (GRCm39) |
N235K |
probably benign |
Het |
Aldh3a2 |
A |
C |
11: 61,153,245 (GRCm39) |
Y160* |
probably null |
Het |
Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
Armt1 |
T |
C |
10: 4,400,859 (GRCm39) |
M202T |
probably benign |
Het |
Brd2 |
C |
A |
17: 34,331,872 (GRCm39) |
V349F |
probably damaging |
Het |
Btnl10 |
A |
T |
11: 58,817,691 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
A |
G |
18: 22,253,591 (GRCm39) |
V216A |
possibly damaging |
Het |
Ccdc85c |
A |
T |
12: 108,240,968 (GRCm39) |
L142Q |
unknown |
Het |
Cdc27 |
A |
T |
11: 104,419,520 (GRCm39) |
S172T |
probably damaging |
Het |
Ceacam14 |
T |
C |
7: 17,548,237 (GRCm39) |
I109T |
probably damaging |
Het |
Ces5a |
C |
T |
8: 94,261,211 (GRCm39) |
G72E |
probably damaging |
Het |
Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
Clec14a |
G |
A |
12: 58,315,001 (GRCm39) |
P207L |
probably damaging |
Het |
Clec16a |
G |
A |
16: 10,448,652 (GRCm39) |
R599H |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 15,953,212 (GRCm39) |
I3423N |
probably damaging |
Het |
Cyp4a29 |
C |
A |
4: 115,107,396 (GRCm39) |
N243K |
probably benign |
Het |
Ddx59 |
T |
C |
1: 136,344,610 (GRCm39) |
F94L |
probably damaging |
Het |
Dusp3 |
A |
C |
11: 101,877,697 (GRCm39) |
V19G |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,828,280 (GRCm39) |
|
probably benign |
Het |
Fgfr4 |
T |
A |
13: 55,313,921 (GRCm39) |
V545E |
probably damaging |
Het |
Fxn |
G |
T |
19: 24,257,790 (GRCm39) |
A47D |
probably damaging |
Het |
Gdpgp1 |
A |
T |
7: 79,888,898 (GRCm39) |
I310F |
possibly damaging |
Het |
Gm7210 |
A |
T |
7: 11,328,040 (GRCm39) |
|
noncoding transcript |
Het |
Grm7 |
G |
T |
6: 111,335,836 (GRCm39) |
C749F |
probably damaging |
Het |
Hps4 |
T |
G |
5: 112,494,495 (GRCm39) |
V26G |
probably damaging |
Het |
Igf1r |
A |
G |
7: 67,814,981 (GRCm39) |
D294G |
probably benign |
Het |
Immp1l |
T |
C |
2: 105,761,172 (GRCm39) |
F27S |
probably benign |
Het |
Kcnk3 |
T |
A |
5: 30,779,930 (GRCm39) |
C327S |
probably damaging |
Het |
Kif13a |
T |
A |
13: 46,968,683 (GRCm39) |
|
probably null |
Het |
Krtap5-4 |
T |
C |
7: 141,857,827 (GRCm39) |
S166P |
unknown |
Het |
Lyst |
G |
A |
13: 13,917,896 (GRCm39) |
D3319N |
possibly damaging |
Het |
Malrd1 |
T |
G |
2: 16,047,078 (GRCm39) |
S1735A |
unknown |
Het |
Myh4 |
A |
G |
11: 67,134,268 (GRCm39) |
T308A |
probably benign |
Het |
Myh8 |
A |
T |
11: 67,190,167 (GRCm39) |
Q1269L |
probably benign |
Het |
Myo15b |
G |
A |
11: 115,781,657 (GRCm39) |
V1367I |
probably damaging |
Het |
Nae1 |
T |
C |
8: 105,250,269 (GRCm39) |
D208G |
probably benign |
Het |
Nelfe |
T |
A |
17: 35,073,432 (GRCm39) |
V296D |
probably damaging |
Het |
Nkapd1 |
T |
C |
9: 50,518,761 (GRCm39) |
R284G |
probably benign |
Het |
Npepps |
A |
T |
11: 97,109,374 (GRCm39) |
V734E |
probably damaging |
Het |
Ogdh |
A |
G |
11: 6,299,390 (GRCm39) |
N752S |
probably damaging |
Het |
Or11i1 |
T |
C |
3: 106,729,503 (GRCm39) |
D124G |
probably damaging |
Het |
Or3a1b |
A |
T |
11: 74,012,547 (GRCm39) |
Q144L |
possibly damaging |
Het |
Or5t9 |
A |
G |
2: 86,659,998 (GRCm39) |
I301V |
possibly damaging |
Het |
Or8b1 |
T |
C |
9: 38,399,673 (GRCm39) |
M116T |
probably benign |
Het |
Otof |
C |
A |
5: 30,571,888 (GRCm39) |
G171V |
probably damaging |
Het |
Phtf2 |
A |
T |
5: 21,006,939 (GRCm39) |
V208D |
probably damaging |
Het |
Pkn1 |
T |
A |
8: 84,410,220 (GRCm39) |
T340S |
probably damaging |
Het |
Plcd4 |
C |
T |
1: 74,602,753 (GRCm39) |
L668F |
possibly damaging |
Het |
Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
Prss50 |
A |
T |
9: 110,690,367 (GRCm39) |
D170V |
probably damaging |
Het |
Ptprg |
T |
C |
14: 12,237,118 (GRCm38) |
V604A |
probably damaging |
Het |
Rab33b |
T |
C |
3: 51,400,826 (GRCm39) |
V100A |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,368,971 (GRCm39) |
D736V |
probably damaging |
Het |
Rela |
C |
A |
19: 5,696,992 (GRCm39) |
P400T |
probably benign |
Het |
Rpusd4 |
T |
C |
9: 35,179,334 (GRCm39) |
L50P |
probably damaging |
Het |
Scn10a |
A |
C |
9: 119,456,181 (GRCm39) |
Y1214D |
probably damaging |
Het |
Sema3c |
A |
G |
5: 17,877,430 (GRCm39) |
E179G |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,374,330 (GRCm39) |
D1253V |
unknown |
Het |
Sp4 |
G |
T |
12: 118,201,913 (GRCm39) |
P771H |
probably damaging |
Het |
Sphkap |
T |
A |
1: 83,256,099 (GRCm39) |
Y263F |
probably damaging |
Het |
Ssbp1 |
G |
A |
6: 40,453,687 (GRCm39) |
V78I |
probably benign |
Het |
St3gal6 |
A |
G |
16: 58,306,769 (GRCm39) |
I87T |
probably benign |
Het |
Tango6 |
T |
A |
8: 107,545,129 (GRCm39) |
D997E |
probably benign |
Het |
Tpr |
C |
T |
1: 150,321,639 (GRCm39) |
P2265S |
possibly damaging |
Het |
Ttc7b |
A |
T |
12: 100,291,936 (GRCm39) |
F212Y |
probably damaging |
Het |
Ubc |
A |
G |
5: 125,465,324 (GRCm39) |
M1T |
probably null |
Het |
Vill |
G |
C |
9: 118,892,716 (GRCm39) |
Q376H |
probably benign |
Het |
Yes1 |
T |
C |
5: 32,809,030 (GRCm39) |
I132T |
possibly damaging |
Het |
Ythdc2 |
A |
G |
18: 44,993,444 (GRCm39) |
T830A |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,358,044 (GRCm39) |
F451I |
possibly damaging |
Het |
Zfp995 |
C |
T |
17: 22,099,493 (GRCm39) |
C247Y |
probably benign |
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 |
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'- CAGTATCTGCCATCTTTCAGAAG -3'
(R):5'- CGTTCTCGGCAAGATCCAAG -3'
Sequencing Primer
(F):5'- GTATCTGCCATCTTTCAGAAGCAAAC -3'
(R):5'- TCTCGGCAAGATCCAAGTGAGAATC -3'
|
Posted On |
2018-04-02 |