Incidental Mutation 'R8970:Adcy1'
ID |
683028 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy1
|
Ensembl Gene |
ENSMUSG00000020431 |
Gene Name |
adenylate cyclase 1 |
Synonyms |
AC1, I-AC, D11Bwg1392e |
MMRRC Submission |
068804-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8970 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
7013489-7128506 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 7099983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 698
(W698R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020706]
|
AlphaFold |
O88444 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020706
AA Change: W698R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000020706 Gene: ENSMUSG00000020431 AA Change: W698R
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
36 |
N/A |
INTRINSIC |
low complexity region
|
58 |
90 |
N/A |
INTRINSIC |
low complexity region
|
112 |
135 |
N/A |
INTRINSIC |
CYCc
|
257 |
455 |
2.05e-80 |
SMART |
transmembrane domain
|
608 |
630 |
N/A |
INTRINSIC |
transmembrane domain
|
634 |
656 |
N/A |
INTRINSIC |
transmembrane domain
|
676 |
698 |
N/A |
INTRINSIC |
CYCc
|
827 |
1038 |
1.71e-50 |
SMART |
low complexity region
|
1090 |
1104 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (69/70) |
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 of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] PHENOTYPE: Mice homozygous for an insertional or null mutation fail to develop normal patterned distribution of neurons in the brain and display behavioral and learning abnormalities. [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 |
A2ml1 |
A |
G |
6: 128,545,726 (GRCm39) |
V467A |
probably damaging |
Het |
Abca2 |
T |
C |
2: 25,335,728 (GRCm39) |
V2113A |
probably benign |
Het |
Adam10 |
A |
G |
9: 70,655,458 (GRCm39) |
N309D |
probably benign |
Het |
Adnp |
T |
C |
2: 168,031,290 (GRCm39) |
N7S |
possibly damaging |
Het |
Ankar |
A |
G |
1: 72,691,496 (GRCm39) |
|
probably null |
Het |
Ankrd34b |
T |
A |
13: 92,575,590 (GRCm39) |
I274K |
probably benign |
Het |
Apela |
A |
T |
8: 65,489,601 (GRCm39) |
L6H |
unknown |
Het |
Ash1l |
T |
C |
3: 88,976,307 (GRCm39) |
I2629T |
probably benign |
Het |
Auts2 |
C |
T |
5: 132,287,791 (GRCm39) |
R64K |
possibly damaging |
Het |
Bms1 |
A |
G |
6: 118,369,292 (GRCm39) |
V1003A |
possibly damaging |
Het |
C2cd3 |
T |
C |
7: 100,068,971 (GRCm39) |
V555A |
|
Het |
C2cd6 |
T |
A |
1: 59,108,895 (GRCm39) |
H252L |
possibly damaging |
Het |
Capn3 |
G |
T |
2: 120,294,566 (GRCm39) |
K71N |
possibly damaging |
Het |
Chct1 |
A |
G |
11: 85,069,246 (GRCm39) |
E198G |
probably benign |
Het |
Clec2l |
C |
A |
6: 38,657,122 (GRCm39) |
T195K |
possibly damaging |
Het |
Col27a1 |
T |
C |
4: 63,134,105 (GRCm39) |
S15P |
unknown |
Het |
Coro2b |
T |
C |
9: 62,333,809 (GRCm39) |
|
probably benign |
Het |
Crocc2 |
A |
T |
1: 93,116,687 (GRCm39) |
T233S |
probably benign |
Het |
Ddb1 |
A |
G |
19: 10,585,808 (GRCm39) |
Q174R |
probably benign |
Het |
Denr |
C |
T |
5: 124,055,279 (GRCm39) |
P48L |
probably damaging |
Het |
Dusp26 |
A |
G |
8: 31,584,232 (GRCm39) |
Y113C |
probably damaging |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Evi5l |
A |
G |
8: 4,236,154 (GRCm39) |
|
probably benign |
Het |
Fgf2 |
G |
T |
3: 37,458,767 (GRCm39) |
V96F |
probably benign |
Het |
Gpr139 |
A |
G |
7: 118,744,034 (GRCm39) |
Y184H |
probably damaging |
Het |
Gtf3c1 |
A |
C |
7: 125,272,227 (GRCm39) |
|
probably benign |
Het |
Gucy1b2 |
A |
G |
14: 62,656,664 (GRCm39) |
V231A |
possibly damaging |
Het |
Gucy2g |
T |
C |
19: 55,191,478 (GRCm39) |
E991G |
possibly damaging |
Het |
Gvin1 |
A |
T |
7: 105,762,647 (GRCm39) |
H607Q |
probably damaging |
Het |
Hal |
T |
C |
10: 93,325,036 (GRCm39) |
V15A |
probably damaging |
Het |
Hes3 |
A |
G |
4: 152,376,036 (GRCm39) |
|
probably null |
Het |
Il11 |
A |
G |
7: 4,779,181 (GRCm39) |
L72P |
probably damaging |
Het |
Iqsec3 |
T |
A |
6: 121,366,528 (GRCm39) |
I785F |
probably damaging |
Het |
Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
Lrpprc |
T |
A |
17: 85,074,483 (GRCm39) |
T475S |
probably damaging |
Het |
Lrrc63 |
T |
A |
14: 75,362,631 (GRCm39) |
T300S |
unknown |
Het |
Lsamp |
A |
T |
16: 41,994,528 (GRCm39) |
I331F |
possibly damaging |
Het |
Ltn1 |
A |
T |
16: 87,212,926 (GRCm39) |
I545K |
probably benign |
Het |
Mab21l4 |
G |
C |
1: 93,087,533 (GRCm39) |
P107A |
probably benign |
Het |
Med13l |
G |
A |
5: 118,883,164 (GRCm39) |
R1341H |
probably damaging |
Het |
Msh4 |
T |
A |
3: 153,575,369 (GRCm39) |
K669* |
probably null |
Het |
Myo10 |
T |
A |
15: 25,803,467 (GRCm39) |
L1558H |
possibly damaging |
Het |
Ncbp1 |
G |
A |
4: 46,170,023 (GRCm39) |
V699M |
probably damaging |
Het |
Or12k8 |
T |
A |
2: 36,975,478 (GRCm39) |
Y94F |
probably benign |
Het |
Or56b1b |
A |
G |
7: 108,164,997 (GRCm39) |
S2P |
probably benign |
Het |
Or5b114-ps1 |
T |
G |
19: 13,353,117 (GRCm39) |
S264A |
unknown |
Het |
Or5b99 |
T |
A |
19: 12,976,353 (GRCm39) |
M1K |
probably null |
Het |
Parpbp |
G |
A |
10: 87,962,186 (GRCm39) |
R165W |
probably damaging |
Het |
Pcdhgb7 |
T |
A |
18: 37,885,631 (GRCm39) |
M267K |
probably benign |
Het |
Pitx3 |
T |
A |
19: 46,125,540 (GRCm39) |
H68L |
possibly damaging |
Het |
Ppfia4 |
A |
G |
1: 134,252,289 (GRCm39) |
L395P |
probably damaging |
Het |
Pramel42 |
T |
C |
5: 94,685,645 (GRCm39) |
V435A |
probably benign |
Het |
Ptprh |
T |
C |
7: 4,583,944 (GRCm39) |
D216G |
possibly damaging |
Het |
Ptprs |
A |
G |
17: 56,730,353 (GRCm39) |
S1174P |
possibly damaging |
Het |
Shf |
A |
G |
2: 122,187,654 (GRCm39) |
S51P |
probably benign |
Het |
Sinhcaf |
A |
T |
6: 148,834,624 (GRCm39) |
F2I |
probably damaging |
Het |
Slc19a3 |
A |
T |
1: 83,000,822 (GRCm39) |
L65Q |
probably damaging |
Het |
Srgap2 |
G |
A |
1: 131,226,104 (GRCm39) |
L390F |
|
Het |
Srpk1 |
T |
C |
17: 28,818,493 (GRCm39) |
T448A |
probably benign |
Het |
Stat5a |
A |
G |
11: 100,771,353 (GRCm39) |
D612G |
probably benign |
Het |
Supt4a |
A |
T |
11: 87,633,645 (GRCm39) |
E67V |
probably benign |
Het |
Tango6 |
T |
A |
8: 107,415,871 (GRCm39) |
C231S |
probably damaging |
Het |
Th |
A |
G |
7: 142,446,796 (GRCm39) |
L490P |
probably damaging |
Het |
Tpcn1 |
C |
T |
5: 120,682,518 (GRCm39) |
G497S |
probably damaging |
Het |
Trim10 |
A |
T |
17: 37,184,168 (GRCm39) |
I254F |
probably benign |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Vmn2r124 |
G |
T |
17: 18,294,439 (GRCm39) |
R842L |
probably benign |
Het |
Vmn2r56 |
T |
C |
7: 12,428,632 (GRCm39) |
R545G |
probably damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,222,244 (GRCm39) |
T659A |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,852,803 (GRCm39) |
M2361T |
probably benign |
Het |
Zfp217 |
T |
C |
2: 169,956,997 (GRCm39) |
D667G |
possibly damaging |
Het |
Zfp952 |
T |
G |
17: 33,221,810 (GRCm39) |
C96W |
probably benign |
Het |
Zfp959 |
A |
G |
17: 56,204,836 (GRCm39) |
Q291R |
possibly damaging |
Het |
Zscan4-ps3 |
T |
C |
7: 11,344,414 (GRCm39) |
V124A |
probably benign |
Het |
|
Other mutations in Adcy1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01149:Adcy1
|
APN |
11 |
7,087,385 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01325:Adcy1
|
APN |
11 |
7,014,102 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL01531:Adcy1
|
APN |
11 |
7,119,414 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01585:Adcy1
|
APN |
11 |
7,117,143 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01932:Adcy1
|
APN |
11 |
7,050,565 (GRCm39) |
splice site |
probably benign |
|
IGL01945:Adcy1
|
APN |
11 |
7,111,891 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02532:Adcy1
|
APN |
11 |
7,094,737 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02649:Adcy1
|
APN |
11 |
7,117,156 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02658:Adcy1
|
APN |
11 |
7,088,279 (GRCm39) |
splice site |
probably benign |
|
IGL02813:Adcy1
|
APN |
11 |
7,096,591 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02931:Adcy1
|
APN |
11 |
7,029,012 (GRCm39) |
missense |
probably benign |
0.19 |
IGL03116:Adcy1
|
APN |
11 |
7,100,071 (GRCm39) |
missense |
probably benign |
|
IGL03119:Adcy1
|
APN |
11 |
7,059,051 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03214:Adcy1
|
APN |
11 |
7,117,054 (GRCm39) |
splice site |
probably benign |
|
PIT4431001:Adcy1
|
UTSW |
11 |
7,014,089 (GRCm39) |
missense |
possibly damaging |
0.93 |
PIT4520001:Adcy1
|
UTSW |
11 |
7,117,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R0032:Adcy1
|
UTSW |
11 |
7,094,729 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0032:Adcy1
|
UTSW |
11 |
7,094,729 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0080:Adcy1
|
UTSW |
11 |
7,099,497 (GRCm39) |
splice site |
probably benign |
|
R0082:Adcy1
|
UTSW |
11 |
7,099,497 (GRCm39) |
splice site |
probably benign |
|
R0238:Adcy1
|
UTSW |
11 |
7,089,162 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0238:Adcy1
|
UTSW |
11 |
7,089,162 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0312:Adcy1
|
UTSW |
11 |
7,099,538 (GRCm39) |
missense |
probably benign |
0.08 |
R0569:Adcy1
|
UTSW |
11 |
7,096,514 (GRCm39) |
missense |
probably benign |
0.34 |
R1055:Adcy1
|
UTSW |
11 |
7,059,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R1144:Adcy1
|
UTSW |
11 |
7,087,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R1179:Adcy1
|
UTSW |
11 |
7,117,054 (GRCm39) |
splice site |
probably null |
|
R1245:Adcy1
|
UTSW |
11 |
7,119,410 (GRCm39) |
splice site |
probably benign |
|
R1467:Adcy1
|
UTSW |
11 |
7,088,396 (GRCm39) |
missense |
probably damaging |
0.97 |
R1467:Adcy1
|
UTSW |
11 |
7,088,396 (GRCm39) |
missense |
probably damaging |
0.97 |
R1823:Adcy1
|
UTSW |
11 |
7,111,312 (GRCm39) |
missense |
probably benign |
0.23 |
R1953:Adcy1
|
UTSW |
11 |
7,028,991 (GRCm39) |
missense |
probably benign |
0.01 |
R1957:Adcy1
|
UTSW |
11 |
7,111,945 (GRCm39) |
missense |
probably benign |
0.00 |
R2029:Adcy1
|
UTSW |
11 |
7,089,142 (GRCm39) |
missense |
probably benign |
0.10 |
R2051:Adcy1
|
UTSW |
11 |
7,111,885 (GRCm39) |
nonsense |
probably null |
|
R2483:Adcy1
|
UTSW |
11 |
7,080,348 (GRCm39) |
missense |
probably benign |
0.01 |
R3108:Adcy1
|
UTSW |
11 |
7,119,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R3623:Adcy1
|
UTSW |
11 |
7,080,348 (GRCm39) |
missense |
probably benign |
0.01 |
R3624:Adcy1
|
UTSW |
11 |
7,080,348 (GRCm39) |
missense |
probably benign |
0.01 |
R4082:Adcy1
|
UTSW |
11 |
7,014,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R4159:Adcy1
|
UTSW |
11 |
7,013,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R4470:Adcy1
|
UTSW |
11 |
7,094,804 (GRCm39) |
missense |
probably benign |
0.17 |
R4472:Adcy1
|
UTSW |
11 |
7,080,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R4951:Adcy1
|
UTSW |
11 |
7,088,336 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4997:Adcy1
|
UTSW |
11 |
7,111,298 (GRCm39) |
missense |
probably benign |
0.25 |
R5237:Adcy1
|
UTSW |
11 |
7,099,553 (GRCm39) |
missense |
probably benign |
0.00 |
R5288:Adcy1
|
UTSW |
11 |
7,111,351 (GRCm39) |
missense |
probably benign |
0.01 |
R5304:Adcy1
|
UTSW |
11 |
7,014,198 (GRCm39) |
missense |
probably benign |
0.00 |
R5341:Adcy1
|
UTSW |
11 |
7,080,375 (GRCm39) |
missense |
probably damaging |
0.99 |
R5379:Adcy1
|
UTSW |
11 |
7,096,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R5592:Adcy1
|
UTSW |
11 |
7,089,088 (GRCm39) |
nonsense |
probably null |
|
R5677:Adcy1
|
UTSW |
11 |
7,111,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R5680:Adcy1
|
UTSW |
11 |
7,059,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R5753:Adcy1
|
UTSW |
11 |
7,080,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R5888:Adcy1
|
UTSW |
11 |
7,089,095 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5943:Adcy1
|
UTSW |
11 |
7,111,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R6435:Adcy1
|
UTSW |
11 |
7,111,367 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6931:Adcy1
|
UTSW |
11 |
7,100,884 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6998:Adcy1
|
UTSW |
11 |
7,029,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R7368:Adcy1
|
UTSW |
11 |
7,094,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R7378:Adcy1
|
UTSW |
11 |
7,119,543 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7393:Adcy1
|
UTSW |
11 |
7,087,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R7500:Adcy1
|
UTSW |
11 |
7,094,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R7529:Adcy1
|
UTSW |
11 |
7,089,157 (GRCm39) |
missense |
probably damaging |
0.98 |
R8681:Adcy1
|
UTSW |
11 |
7,111,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R8682:Adcy1
|
UTSW |
11 |
7,111,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:Adcy1
|
UTSW |
11 |
7,111,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R8831:Adcy1
|
UTSW |
11 |
7,111,362 (GRCm39) |
missense |
probably benign |
0.02 |
R8859:Adcy1
|
UTSW |
11 |
7,111,877 (GRCm39) |
missense |
probably benign |
0.06 |
R8894:Adcy1
|
UTSW |
11 |
7,087,375 (GRCm39) |
missense |
probably damaging |
0.97 |
R8904:Adcy1
|
UTSW |
11 |
7,059,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R9037:Adcy1
|
UTSW |
11 |
7,087,325 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9172:Adcy1
|
UTSW |
11 |
7,110,317 (GRCm39) |
missense |
probably damaging |
0.97 |
R9303:Adcy1
|
UTSW |
11 |
7,094,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R9448:Adcy1
|
UTSW |
11 |
7,099,575 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9694:Adcy1
|
UTSW |
11 |
7,094,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R9763:Adcy1
|
UTSW |
11 |
7,014,126 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Adcy1
|
UTSW |
11 |
7,111,930 (GRCm39) |
missense |
possibly damaging |
0.47 |
Z1088:Adcy1
|
UTSW |
11 |
7,100,019 (GRCm39) |
missense |
probably benign |
0.19 |
Z1176:Adcy1
|
UTSW |
11 |
7,100,857 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1176:Adcy1
|
UTSW |
11 |
7,099,536 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Adcy1
|
UTSW |
11 |
7,059,098 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Adcy1
|
UTSW |
11 |
7,100,858 (GRCm39) |
missense |
possibly damaging |
0.62 |
Z1177:Adcy1
|
UTSW |
11 |
7,094,802 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Adcy1
|
UTSW |
11 |
7,050,642 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGACAGCTGGGGTCTTTG -3'
(R):5'- ATGTAGGAAGTAGTCAGCCCAG -3'
Sequencing Primer
(F):5'- AGCTGGGGTCTTTGCAGGC -3'
(R):5'- CCAGACAGCAGGATCATCTTTGG -3'
|
Posted On |
2021-10-11 |