Incidental Mutation 'R0587:Ak2'
| ID |
55803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak2
|
| Ensembl Gene |
ENSMUSG00000028792 |
| Gene Name |
adenylate kinase 2 |
| Synonyms |
D4Ertd220e, Ak-2 |
| MMRRC Submission |
038777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R0587 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
128887017-128905322 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128896171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 112
(D112G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030583]
[ENSMUST00000102604]
[ENSMUST00000152762]
|
| AlphaFold |
Q9WTP6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030583
AA Change: D112G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030583
Gene: ENSMUSG00000028792
AA Change: D112G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADK
|
20 |
206 |
2.2e-62 |
PFAM |
|
Pfam:ADK_lid
|
142 |
177 |
4.2e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102604
AA Change: D112G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099664
Gene: ENSMUSG00000028792
AA Change: D112G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADK
|
20 |
206 |
2.3e-62 |
PFAM |
|
Pfam:ADK_lid
|
142 |
177 |
9.2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141982
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152762
|
| SMART Domains |
Protein: ENSMUSP00000122284
Gene: ENSMUSG00000028792
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADK
|
17 |
72 |
9.3e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.5230 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
94% (34/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
T |
C |
17: 36,203,855 (GRCm39) |
*212W |
probably null |
Het |
| Abca1 |
A |
G |
4: 53,107,035 (GRCm39) |
Y231H |
probably benign |
Het |
| Abca5 |
T |
G |
11: 110,202,203 (GRCm39) |
I401L |
probably benign |
Het |
| Ankrd60 |
T |
A |
2: 173,410,644 (GRCm39) |
D292V |
possibly damaging |
Het |
| Bank1 |
A |
G |
3: 135,919,798 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,978,980 (GRCm39) |
S778L |
probably benign |
Het |
| Cep76 |
C |
A |
18: 67,756,245 (GRCm39) |
E529* |
probably null |
Het |
| Col24a1 |
T |
C |
3: 144,998,906 (GRCm39) |
V13A |
possibly damaging |
Het |
| Ctsc |
T |
A |
7: 87,946,437 (GRCm39) |
H154Q |
probably benign |
Het |
| Ctsf |
A |
G |
19: 4,905,766 (GRCm39) |
E87G |
probably benign |
Het |
| Dmxl1 |
A |
T |
18: 50,068,374 (GRCm39) |
T2716S |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,212,382 (GRCm39) |
|
probably benign |
Het |
| Fcsk |
T |
A |
8: 111,609,957 (GRCm39) |
Q1019L |
probably damaging |
Het |
| Hnrnpul1 |
T |
A |
7: 25,444,657 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Kmt2a |
A |
T |
9: 44,758,831 (GRCm39) |
M1039K |
probably damaging |
Het |
| Large1 |
T |
C |
8: 73,585,961 (GRCm39) |
N382D |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,977,230 (GRCm39) |
V1402A |
probably damaging |
Het |
| Mlh3 |
C |
T |
12: 85,313,193 (GRCm39) |
V998M |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,548,616 (GRCm39) |
Y71C |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,861,634 (GRCm39) |
D139N |
unknown |
Het |
| Nes |
C |
A |
3: 87,885,876 (GRCm39) |
H1378Q |
probably benign |
Het |
| Or4c12 |
T |
C |
2: 89,773,736 (GRCm39) |
H241R |
probably damaging |
Het |
| Otud6b |
T |
C |
4: 14,815,661 (GRCm39) |
E243G |
probably benign |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Pcm1 |
G |
T |
8: 41,739,088 (GRCm39) |
R912L |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,155,497 (GRCm39) |
I2449T |
possibly damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,818,453 (GRCm39) |
M217I |
probably damaging |
Het |
| Sorl1 |
C |
A |
9: 41,895,802 (GRCm39) |
W1784C |
probably damaging |
Het |
| Spatc1l |
A |
G |
10: 76,400,011 (GRCm39) |
R178G |
possibly damaging |
Het |
| Strada |
A |
C |
11: 106,061,790 (GRCm39) |
Y154D |
probably damaging |
Het |
| Syt6 |
A |
G |
3: 103,532,887 (GRCm39) |
T424A |
probably damaging |
Het |
| Tbx1 |
C |
T |
16: 18,402,243 (GRCm39) |
A245T |
possibly damaging |
Het |
| Tmem143 |
T |
C |
7: 45,556,478 (GRCm39) |
L161P |
probably damaging |
Het |
|
| Other mutations in Ak2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02279:Ak2
|
APN |
4 |
128,893,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03068:Ak2
|
APN |
4 |
128,901,819 (GRCm39) |
splice site |
probably benign |
|
|
R1464:Ak2
|
UTSW |
4 |
128,896,152 (GRCm39) |
splice site |
probably benign |
|
|
R1727:Ak2
|
UTSW |
4 |
128,901,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Ak2
|
UTSW |
4 |
128,895,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2002:Ak2
|
UTSW |
4 |
128,902,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2030:Ak2
|
UTSW |
4 |
128,902,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2061:Ak2
|
UTSW |
4 |
128,901,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4570:Ak2
|
UTSW |
4 |
128,895,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5108:Ak2
|
UTSW |
4 |
128,896,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5386:Ak2
|
UTSW |
4 |
128,901,965 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5667:Ak2
|
UTSW |
4 |
128,902,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5671:Ak2
|
UTSW |
4 |
128,902,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Ak2
|
UTSW |
4 |
128,892,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6936:Ak2
|
UTSW |
4 |
128,893,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7584:Ak2
|
UTSW |
4 |
128,893,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Ak2
|
UTSW |
4 |
128,896,195 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9742:Ak2
|
UTSW |
4 |
128,901,961 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACACATAGGCTTCAAGGGCATAC -3'
(R):5'- AATGGCACCAAGCGAGCTTCTG -3'
Sequencing Primer
(F):5'- GACTCCTTCGTGCAAAAATGG -3'
(R):5'- TTCTGCCCCACAAAGCTGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation