Incidental Mutation 'R6770:Adk'
| ID |
532140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adk
|
| Ensembl Gene |
ENSMUSG00000039197 |
| Gene Name |
adenosine kinase |
| Synonyms |
2310026J05Rik, 5033405D03Rik, AK |
| MMRRC Submission |
044886-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6770 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
21102642-21498637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21284982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 102
(K102E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045376]
[ENSMUST00000223915]
[ENSMUST00000224069]
[ENSMUST00000224899]
|
| AlphaFold |
P55264 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045376
AA Change: K118E
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000047665
Gene: ENSMUSG00000039197
AA Change: K118E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PfkB
|
41 |
359 |
1.1e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223915
AA Change: K116E
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224069
AA Change: K102E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224899
AA Change: K109E
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.1655 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in death before 14 days of age, growth retardation, liver abnormalities, apnea, and impaired temperature regulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bach2 |
G |
A |
4: 32,575,240 (GRCm39) |
V489I |
possibly damaging |
Het |
| Bin1 |
A |
G |
18: 32,539,202 (GRCm39) |
E45G |
probably damaging |
Het |
| Btnl4 |
A |
G |
17: 34,693,011 (GRCm39) |
Y135H |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,066,392 (GRCm39) |
|
probably null |
Het |
| Cdh10 |
A |
G |
15: 18,985,308 (GRCm39) |
D324G |
probably benign |
Het |
| Cfi |
T |
C |
3: 129,652,379 (GRCm39) |
S269P |
probably benign |
Het |
| Ctbp1 |
G |
A |
5: 33,408,204 (GRCm39) |
Q243* |
probably null |
Het |
| Dnajc1 |
G |
T |
2: 18,222,082 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxo39 |
T |
G |
11: 72,208,622 (GRCm39) |
S325A |
possibly damaging |
Het |
| Gbe1 |
T |
C |
16: 70,198,726 (GRCm39) |
S140P |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,111,153 (GRCm39) |
L38Q |
possibly damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,967 (GRCm39) |
S551G |
possibly damaging |
Het |
| Ina |
C |
T |
19: 47,003,366 (GRCm39) |
|
probably benign |
Het |
| Irs3 |
A |
G |
5: 137,643,475 (GRCm39) |
V103A |
possibly damaging |
Het |
| Ldb2 |
T |
A |
5: 44,826,738 (GRCm39) |
T66S |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,327,648 (GRCm39) |
A1499V |
probably benign |
Het |
| Nde1 |
G |
A |
16: 14,006,242 (GRCm39) |
V96I |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,370,969 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
G |
T |
17: 90,344,607 (GRCm39) |
N435K |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,934,862 (GRCm39) |
D5256G |
possibly damaging |
Het |
| Or1e25 |
A |
G |
11: 73,493,804 (GRCm39) |
T133A |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,448,206 (GRCm39) |
V110A |
probably benign |
Het |
| Or52n20 |
T |
A |
7: 104,320,725 (GRCm39) |
I272N |
probably damaging |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,479 (GRCm39) |
F153L |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,744,837 (GRCm39) |
M865K |
probably benign |
Het |
| Otud1 |
A |
G |
2: 19,663,993 (GRCm39) |
E374G |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,764,568 (GRCm39) |
L542H |
probably damaging |
Het |
| Plekhg5 |
A |
G |
4: 152,187,536 (GRCm39) |
T101A |
probably benign |
Het |
| Ppic |
A |
T |
18: 53,544,657 (GRCm39) |
V51E |
probably benign |
Het |
| Ptpn14 |
G |
A |
1: 189,564,970 (GRCm39) |
V186M |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,753,348 (GRCm39) |
T1658S |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,559,528 (GRCm39) |
|
probably null |
Het |
| Siva1 |
G |
A |
12: 112,614,358 (GRCm39) |
C73Y |
probably damaging |
Het |
| Slc4a1ap |
G |
A |
5: 31,685,226 (GRCm39) |
|
probably null |
Het |
| Sltm |
A |
G |
9: 70,492,059 (GRCm39) |
I683V |
unknown |
Het |
| Srgap2 |
A |
T |
1: 131,226,248 (GRCm39) |
C22S |
probably benign |
Het |
| Stxbp1 |
C |
T |
2: 32,709,901 (GRCm39) |
R64H |
probably benign |
Het |
| Suv39h2 |
T |
C |
2: 3,473,588 (GRCm39) |
N114S |
possibly damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,345 (GRCm39) |
I261V |
probably benign |
Het |
| Trav14-2 |
A |
C |
14: 53,878,629 (GRCm39) |
H76P |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,434,006 (GRCm39) |
S2316P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,216,493 (GRCm39) |
I5141T |
unknown |
Het |
| Usp46 |
A |
G |
5: 74,193,015 (GRCm39) |
V87A |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,508,445 (GRCm39) |
N612S |
probably damaging |
Het |
|
| Other mutations in Adk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Adk
|
APN |
14 |
21,142,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01403:Adk
|
APN |
14 |
21,284,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01701:Adk
|
APN |
14 |
21,153,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02405:Adk
|
APN |
14 |
21,153,899 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02808:Adk
|
APN |
14 |
21,153,901 (GRCm39) |
missense |
probably benign |
0.08 |
|
jeopardy
|
UTSW |
14 |
21,284,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
presumption
|
UTSW |
14 |
21,290,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Adk
|
UTSW |
14 |
21,368,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0463:Adk
|
UTSW |
14 |
21,473,604 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0904:Adk
|
UTSW |
14 |
21,142,496 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1448:Adk
|
UTSW |
14 |
21,102,708 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R1695:Adk
|
UTSW |
14 |
21,431,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2048:Adk
|
UTSW |
14 |
21,368,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Adk
|
UTSW |
14 |
21,419,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Adk
|
UTSW |
14 |
21,290,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Adk
|
UTSW |
14 |
21,473,616 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6932:Adk
|
UTSW |
14 |
21,126,376 (GRCm39) |
start codon destroyed |
probably null |
0.23 |
|
R7146:Adk
|
UTSW |
14 |
21,376,682 (GRCm39) |
missense |
|
|
|
R7257:Adk
|
UTSW |
14 |
21,102,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7491:Adk
|
UTSW |
14 |
21,284,997 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7806:Adk
|
UTSW |
14 |
21,376,679 (GRCm39) |
missense |
|
|
|
R7922:Adk
|
UTSW |
14 |
21,368,111 (GRCm39) |
missense |
probably benign |
|
|
R8465:Adk
|
UTSW |
14 |
21,153,892 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9709:Adk
|
UTSW |
14 |
21,126,386 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACAAAGCACATCTTTCATGCCAG -3'
(R):5'- AAAATGACTCAGGGTTTGCTGAAC -3'
Sequencing Primer
(F):5'- TTCATGCCAGCACCCGTG -3'
(R):5'- CAGGGTTTGCTGAACATTAAAAATGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation