Incidental Mutation 'R1878:Adcy4'
ID |
211338 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy4
|
Ensembl Gene |
ENSMUSG00000022220 |
Gene Name |
adenylate cyclase 4 |
Synonyms |
|
MMRRC Submission |
039899-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1878 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
56006514-56021552 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56007362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 950
(D950G)
|
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: D950G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000002398 Gene: ENSMUSG00000022220 AA Change: D950G
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: D950G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130530 Gene: ENSMUSG00000022220 AA Change: D950G
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
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.6%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
A |
17: 45,825,564 (GRCm39) |
|
probably null |
Het |
Abcb9 |
A |
G |
5: 124,228,199 (GRCm39) |
V14A |
probably benign |
Het |
Ahctf1 |
T |
C |
1: 179,603,074 (GRCm39) |
D828G |
possibly damaging |
Het |
Ak2 |
T |
A |
4: 128,895,960 (GRCm39) |
V79D |
probably damaging |
Het |
Arhgap29 |
T |
C |
3: 121,805,020 (GRCm39) |
Y870H |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,134,363 (GRCm39) |
K1222E |
probably damaging |
Het |
Armc1 |
A |
T |
3: 19,211,708 (GRCm39) |
D37E |
probably damaging |
Het |
Cenpm |
A |
T |
15: 82,118,616 (GRCm39) |
M166K |
probably benign |
Het |
Cep97 |
G |
T |
16: 55,725,589 (GRCm39) |
P766Q |
probably damaging |
Het |
Col19a1 |
G |
T |
1: 24,356,476 (GRCm39) |
D672E |
probably benign |
Het |
Col6a2 |
T |
C |
10: 76,450,622 (GRCm39) |
D103G |
probably benign |
Het |
Ddi2 |
T |
C |
4: 141,411,460 (GRCm39) |
E484G |
probably benign |
Het |
Dph1 |
T |
C |
11: 75,075,053 (GRCm39) |
D100G |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,348,831 (GRCm39) |
I100F |
possibly damaging |
Het |
Fam222b |
T |
C |
11: 78,034,042 (GRCm39) |
|
probably null |
Het |
Folh1 |
A |
T |
7: 86,420,950 (GRCm39) |
H126Q |
probably benign |
Het |
Gapvd1 |
A |
T |
2: 34,615,212 (GRCm39) |
D428E |
probably benign |
Het |
Gfus |
A |
G |
15: 75,797,218 (GRCm39) |
S306P |
probably benign |
Het |
Gm11564 |
A |
T |
11: 99,706,266 (GRCm39) |
C55S |
unknown |
Het |
Gne |
T |
C |
4: 44,040,434 (GRCm39) |
I577V |
probably damaging |
Het |
Gpr4 |
A |
G |
7: 18,957,049 (GRCm39) |
T324A |
probably damaging |
Het |
Hhipl1 |
A |
T |
12: 108,286,319 (GRCm39) |
N542I |
possibly damaging |
Het |
Ice2 |
T |
C |
9: 69,335,858 (GRCm39) |
|
probably null |
Het |
Irgm1 |
C |
T |
11: 48,756,897 (GRCm39) |
V305I |
probably benign |
Het |
Itgal |
C |
A |
7: 126,909,843 (GRCm39) |
Q73K |
probably benign |
Het |
Jcad |
C |
A |
18: 4,673,857 (GRCm39) |
H540N |
possibly damaging |
Het |
Jkamp |
T |
A |
12: 72,140,878 (GRCm39) |
V141D |
possibly damaging |
Het |
Lrrc9 |
T |
C |
12: 72,522,938 (GRCm39) |
|
probably null |
Het |
Mcc |
T |
C |
18: 44,601,467 (GRCm39) |
R621G |
possibly damaging |
Het |
Myd88 |
T |
A |
9: 119,167,686 (GRCm39) |
Q140L |
probably benign |
Het |
Mylk3 |
A |
T |
8: 86,082,028 (GRCm39) |
N323K |
possibly damaging |
Het |
Myrip |
C |
T |
9: 120,253,721 (GRCm39) |
R265W |
probably damaging |
Het |
N4bp1 |
A |
T |
8: 87,588,169 (GRCm39) |
S256R |
probably damaging |
Het |
Nhsl1 |
T |
G |
10: 18,400,027 (GRCm39) |
S418A |
probably damaging |
Het |
Nlrp9b |
A |
G |
7: 19,762,489 (GRCm39) |
T269A |
probably benign |
Het |
Nmt1 |
A |
G |
11: 102,943,077 (GRCm39) |
N144S |
probably benign |
Het |
Npvf |
G |
A |
6: 50,631,303 (GRCm39) |
T24I |
probably benign |
Het |
Obscn |
T |
G |
11: 58,886,379 (GRCm39) |
Y2347S |
probably damaging |
Het |
Or10d5 |
T |
A |
9: 39,862,053 (GRCm39) |
T5S |
probably benign |
Het |
Or14j1 |
T |
C |
17: 38,146,253 (GRCm39) |
V121A |
probably benign |
Het |
Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
Or2aj5 |
G |
T |
16: 19,424,501 (GRCm39) |
Q306K |
probably benign |
Het |
Or2n1c |
T |
C |
17: 38,519,265 (GRCm39) |
I43T |
probably benign |
Het |
Or4c105 |
A |
G |
2: 88,647,805 (GRCm39) |
T97A |
probably benign |
Het |
Or51v8 |
A |
C |
7: 103,319,389 (GRCm39) |
M283R |
probably damaging |
Het |
Or7a42 |
T |
A |
10: 78,791,639 (GRCm39) |
M200K |
possibly damaging |
Het |
Osgin2 |
A |
T |
4: 16,005,493 (GRCm39) |
V131D |
probably damaging |
Het |
Pcdhac2 |
A |
T |
18: 37,278,215 (GRCm39) |
K398N |
possibly damaging |
Het |
Pcnp |
A |
T |
16: 55,838,850 (GRCm39) |
M143K |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,503,639 (GRCm39) |
I71V |
probably benign |
Het |
Ppp4c |
G |
T |
7: 126,386,779 (GRCm39) |
R103S |
probably damaging |
Het |
Prl2c2 |
T |
A |
13: 13,179,911 (GRCm39) |
M1L |
probably damaging |
Het |
Recql5 |
A |
T |
11: 115,785,927 (GRCm39) |
D615E |
probably benign |
Het |
Robo3 |
T |
C |
9: 37,333,461 (GRCm39) |
E728G |
probably damaging |
Het |
Rps27l |
T |
A |
9: 66,854,911 (GRCm39) |
|
probably null |
Het |
Scube3 |
T |
A |
17: 28,371,387 (GRCm39) |
V34E |
probably benign |
Het |
Sez6l |
A |
G |
5: 112,623,089 (GRCm39) |
I154T |
probably damaging |
Het |
Sgsm1 |
G |
A |
5: 113,411,381 (GRCm39) |
L782F |
probably damaging |
Het |
Slc35c1 |
A |
G |
2: 92,289,398 (GRCm39) |
V36A |
probably benign |
Het |
Snapc4 |
A |
G |
2: 26,266,165 (GRCm39) |
|
probably null |
Het |
Sohlh2 |
C |
A |
3: 55,115,064 (GRCm39) |
R350S |
probably damaging |
Het |
Spag1 |
G |
A |
15: 36,181,916 (GRCm39) |
E25K |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,436,300 (GRCm39) |
A1217T |
possibly damaging |
Het |
Stil |
T |
C |
4: 114,898,423 (GRCm39) |
S1018P |
probably damaging |
Het |
Strn |
T |
C |
17: 78,984,755 (GRCm39) |
E117G |
possibly damaging |
Het |
Syt17 |
A |
T |
7: 118,033,468 (GRCm39) |
M180K |
probably benign |
Het |
Trem1 |
T |
C |
17: 48,548,516 (GRCm39) |
S18P |
possibly damaging |
Het |
Umad1 |
T |
A |
6: 8,427,181 (GRCm39) |
F145I |
probably damaging |
Het |
Unc80 |
A |
C |
1: 66,548,561 (GRCm39) |
H611P |
probably damaging |
Het |
Zfp1004 |
T |
A |
2: 150,034,989 (GRCm39) |
C437S |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,643,891 (GRCm39) |
E440G |
probably damaging |
Het |
Zfp764 |
C |
A |
7: 127,004,214 (GRCm39) |
A306S |
probably benign |
Het |
Zfp949 |
T |
A |
9: 88,451,356 (GRCm39) |
S309T |
probably damaging |
Het |
Zswim4 |
T |
C |
8: 84,939,405 (GRCm39) |
N826D |
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 |
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 |
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'- TCAGCCAAGGGAGTAAGTCTG -3'
(R):5'- TTGGCAGTACCTACATGGCG -3'
Sequencing Primer
(F):5'- TCCAGGAATGAGTTGGCGAGC -3'
(R):5'- TACCTACATGGCGGCCACAG -3'
|
Posted On |
2014-06-30 |