Incidental Mutation 'R5341:Adcy1'
ID |
422345 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adcy1
|
Ensembl Gene |
ENSMUSG00000020431 |
Gene Name |
adenylate cyclase 1 |
Synonyms |
AC1, I-AC, D11Bwg1392e |
MMRRC Submission |
042920-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5341 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
7013489-7128506 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 7080375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 373
(M373L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020706]
|
AlphaFold |
O88444 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020706
AA Change: M373L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020706 Gene: ENSMUSG00000020431 AA Change: M373L
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 |
|
Meta Mutation Damage Score |
0.2706 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
97% (64/66) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
A |
G |
10: 85,223,236 (GRCm39) |
D15G |
unknown |
Het |
Actr5 |
C |
A |
2: 158,467,144 (GRCm39) |
S28* |
probably null |
Het |
Adcyap1r1 |
C |
G |
6: 55,455,054 (GRCm39) |
F111L |
probably benign |
Het |
Arid5b |
A |
T |
10: 68,113,957 (GRCm39) |
F27I |
possibly damaging |
Het |
Art5 |
C |
A |
7: 101,747,306 (GRCm39) |
V158L |
probably benign |
Het |
Bora |
T |
A |
14: 99,305,530 (GRCm39) |
Y300N |
probably damaging |
Het |
Cd300a |
A |
G |
11: 114,784,288 (GRCm39) |
T99A |
probably damaging |
Het |
Cdon |
A |
G |
9: 35,381,431 (GRCm39) |
Y607C |
probably damaging |
Het |
Cenatac |
A |
G |
9: 44,328,406 (GRCm39) |
|
probably null |
Het |
Cpxm2 |
T |
A |
7: 131,756,342 (GRCm39) |
|
probably benign |
Het |
Cstdc7 |
A |
G |
18: 42,306,496 (GRCm39) |
D21G |
possibly damaging |
Het |
Dhx8 |
AGACCGGGACCGGGACCGGGACCGGGAC |
AGACCGGGACCGGGACCGGGAC |
11: 101,629,016 (GRCm39) |
|
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,219,534 (GRCm39) |
E136G |
possibly damaging |
Het |
Enox1 |
A |
C |
14: 77,815,096 (GRCm39) |
T85P |
possibly damaging |
Het |
Fanci |
T |
C |
7: 79,055,926 (GRCm39) |
L158P |
probably damaging |
Het |
Gbgt1 |
C |
A |
2: 28,395,019 (GRCm39) |
T219N |
probably damaging |
Het |
Gulo |
T |
C |
14: 66,225,707 (GRCm39) |
D373G |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,008,336 (GRCm39) |
Q1645K |
possibly damaging |
Het |
Iqce |
A |
C |
5: 140,675,814 (GRCm39) |
M114R |
possibly damaging |
Het |
Lmbrd1 |
A |
T |
1: 24,785,892 (GRCm39) |
K396* |
probably null |
Het |
Lrrk2 |
A |
T |
15: 91,657,061 (GRCm39) |
D1785V |
probably damaging |
Het |
Matcap1 |
A |
T |
8: 106,011,687 (GRCm39) |
M226K |
probably damaging |
Het |
Mcmdc2 |
ATAAAAAAAAAGGAAAAATTACCTT |
AT |
1: 10,011,142 (GRCm39) |
|
probably null |
Het |
Mepce |
A |
G |
5: 137,781,522 (GRCm39) |
V564A |
probably damaging |
Het |
Mmp17 |
A |
T |
5: 129,679,193 (GRCm39) |
D364V |
possibly damaging |
Het |
Mrgpre |
T |
C |
7: 143,335,246 (GRCm39) |
N86D |
probably benign |
Het |
Ms4a20 |
T |
C |
19: 11,087,745 (GRCm39) |
|
probably benign |
Het |
Or2r11 |
A |
T |
6: 42,437,098 (GRCm39) |
L285Q |
probably damaging |
Het |
Or4f53 |
T |
A |
2: 111,087,982 (GRCm39) |
I174K |
probably damaging |
Het |
Pate11 |
A |
T |
9: 36,388,357 (GRCm39) |
K61* |
probably null |
Het |
Pax5 |
T |
C |
4: 44,697,630 (GRCm39) |
D35G |
probably damaging |
Het |
Pip5k1b |
T |
A |
19: 24,281,440 (GRCm39) |
T473S |
probably benign |
Het |
Pkd2l2 |
A |
G |
18: 34,542,987 (GRCm39) |
|
probably null |
Het |
Pygo2 |
C |
A |
3: 89,340,067 (GRCm39) |
P155Q |
probably damaging |
Het |
Rb1cc1 |
G |
T |
1: 6,285,266 (GRCm39) |
|
probably benign |
Het |
Rbpj |
A |
G |
5: 53,799,425 (GRCm39) |
E80G |
possibly damaging |
Het |
Sbno1 |
A |
C |
5: 124,546,538 (GRCm39) |
|
probably null |
Het |
Slc1a1 |
T |
A |
19: 28,874,968 (GRCm39) |
V182E |
probably benign |
Het |
Slc34a3 |
A |
T |
2: 25,120,671 (GRCm39) |
F419I |
probably benign |
Het |
Snx8 |
A |
G |
5: 140,343,886 (GRCm39) |
V62A |
probably damaging |
Het |
Sp9 |
T |
C |
2: 73,104,858 (GRCm39) |
S471P |
possibly damaging |
Het |
Sspo |
A |
T |
6: 48,436,549 (GRCm39) |
S1270C |
probably damaging |
Het |
Stk11 |
A |
T |
10: 79,962,094 (GRCm39) |
T83S |
probably benign |
Het |
Syt13 |
A |
G |
2: 92,783,897 (GRCm39) |
E389G |
probably benign |
Het |
Taf10 |
T |
C |
7: 105,390,139 (GRCm39) |
|
probably benign |
Het |
Tgm1 |
A |
T |
14: 55,937,705 (GRCm39) |
S801R |
possibly damaging |
Het |
Thoc2l |
A |
T |
5: 104,665,942 (GRCm39) |
T155S |
probably damaging |
Het |
Timeless |
T |
C |
10: 128,083,047 (GRCm39) |
F628L |
possibly damaging |
Het |
Tmem171 |
G |
T |
13: 98,824,956 (GRCm39) |
P225T |
probably damaging |
Het |
Tspan12 |
A |
T |
6: 21,835,458 (GRCm39) |
C72S |
possibly damaging |
Het |
Txk |
T |
C |
5: 72,853,964 (GRCm39) |
T458A |
probably benign |
Het |
Txndc9 |
A |
G |
1: 38,026,704 (GRCm39) |
|
probably benign |
Het |
Uap1 |
C |
A |
1: 169,971,000 (GRCm39) |
C464F |
probably damaging |
Het |
Ugt2b36 |
A |
T |
5: 87,240,087 (GRCm39) |
Y99* |
probably null |
Het |
Usp35 |
T |
C |
7: 96,975,134 (GRCm39) |
Y13C |
probably damaging |
Het |
Vmn1r6 |
T |
G |
6: 56,979,789 (GRCm39) |
N128K |
probably damaging |
Het |
Vmn2r106 |
T |
A |
17: 20,497,788 (GRCm39) |
I484L |
probably benign |
Het |
Zdbf2 |
T |
A |
1: 63,347,092 (GRCm39) |
S1824T |
probably benign |
Het |
Zdhhc4 |
A |
G |
5: 143,311,915 (GRCm39) |
V19A |
probably benign |
Het |
Zfp955b |
C |
T |
17: 33,524,095 (GRCm39) |
|
probably benign |
Het |
Zfp97 |
T |
A |
17: 17,365,472 (GRCm39) |
C324S |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,766,122 (GRCm39) |
D803N |
probably damaging |
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 |
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 |
R8970:Adcy1
|
UTSW |
11 |
7,099,983 (GRCm39) |
missense |
probably benign |
0.00 |
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'- GAGTGGAGATACCCATTTGAGC -3'
(R):5'- TCCCCTATCTCAGGCACACTAG -3'
Sequencing Primer
(F):5'- AGATACCCATTTGAGCCTGGC -3'
(R):5'- GATACACAAAGGATTTCTCTGGAC -3'
|
Posted On |
2016-08-04 |