Incidental Mutation 'R4536:Gls2'
ID |
333336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gls2
|
Ensembl Gene |
ENSMUSG00000044005 |
Gene Name |
glutaminase 2 (liver, mitochondrial) |
Synonyms |
Lga, A330074B06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4536 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
128030504-128045873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 128036806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 196
(V196I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047376
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044776]
[ENSMUST00000123291]
[ENSMUST00000143827]
[ENSMUST00000159440]
|
AlphaFold |
Q571F8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044776
AA Change: V196I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000047376 Gene: ENSMUSG00000044005 AA Change: V196I
Domain | Start | End | E-Value | Type |
Pfam:Glutaminase
|
177 |
463 |
1.1e-116 |
PFAM |
ANK
|
518 |
548 |
3.76e-5 |
SMART |
ANK
|
552 |
581 |
1.21e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123385
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134104
|
SMART Domains |
Protein: ENSMUSP00000123436 Gene: ENSMUSG00000044005
Domain | Start | End | E-Value | Type |
PDB:4JKT|D
|
60 |
172 |
1e-48 |
PDB |
low complexity region
|
191 |
201 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135441
|
Predicted Effect |
silent
Transcript: ENSMUST00000143827
|
SMART Domains |
Protein: ENSMUSP00000119763 Gene: ENSMUSG00000044005
Domain | Start | End | E-Value | Type |
PDB:4JKT|D
|
67 |
135 |
5e-25 |
PDB |
low complexity region
|
170 |
186 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152928
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145591
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159440
|
SMART Domains |
Protein: ENSMUSP00000124239 Gene: ENSMUSG00000044005
Domain | Start | End | E-Value | Type |
PDB:4JKT|D
|
67 |
134 |
9e-25 |
PDB |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amot |
A |
G |
X: 144,263,138 (GRCm39) |
S398P |
probably benign |
Het |
Arhgef17 |
G |
C |
7: 100,579,061 (GRCm39) |
S629C |
probably damaging |
Het |
Atg5lrt |
G |
A |
10: 95,972,564 (GRCm39) |
A34T |
probably benign |
Het |
Atp5if1 |
A |
C |
4: 132,260,870 (GRCm39) |
S4A |
possibly damaging |
Het |
Atp8b2 |
G |
A |
3: 89,849,091 (GRCm39) |
A1081V |
probably benign |
Het |
Atr |
A |
G |
9: 95,756,471 (GRCm39) |
D867G |
probably benign |
Het |
C1qtnf3 |
G |
A |
15: 10,972,113 (GRCm39) |
S206N |
probably damaging |
Het |
Cep152 |
A |
C |
2: 125,444,867 (GRCm39) |
|
probably null |
Het |
Cetn1 |
T |
C |
18: 9,618,998 (GRCm39) |
E141G |
probably damaging |
Het |
Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,385,781 (GRCm39) |
N269K |
probably damaging |
Het |
Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
Frmd4b |
T |
A |
6: 97,287,693 (GRCm39) |
Q241L |
possibly damaging |
Het |
Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
Klhl1 |
A |
C |
14: 96,374,019 (GRCm39) |
|
probably null |
Het |
Mettl4 |
C |
A |
17: 95,042,933 (GRCm39) |
S301I |
possibly damaging |
Het |
Mlxip |
G |
A |
5: 123,588,566 (GRCm39) |
D819N |
probably damaging |
Het |
Or10d5 |
A |
T |
9: 39,861,731 (GRCm39) |
L112Q |
probably damaging |
Het |
Pam |
T |
A |
1: 97,772,424 (GRCm39) |
K440* |
probably null |
Het |
Phldb2 |
T |
C |
16: 45,591,044 (GRCm39) |
M996V |
probably benign |
Het |
Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
Rad51ap2 |
A |
G |
12: 11,507,850 (GRCm39) |
S591G |
possibly damaging |
Het |
Rfx6 |
A |
G |
10: 51,599,880 (GRCm39) |
N542S |
probably benign |
Het |
Slc44a4 |
T |
A |
17: 35,142,815 (GRCm39) |
C254S |
probably damaging |
Het |
Sptbn2 |
C |
T |
19: 4,782,630 (GRCm39) |
A522V |
probably damaging |
Het |
Syt10 |
C |
T |
15: 89,666,825 (GRCm39) |
D509N |
probably damaging |
Het |
Tango2 |
A |
G |
16: 18,142,219 (GRCm39) |
|
probably null |
Het |
Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
Trafd1 |
T |
C |
5: 121,517,746 (GRCm39) |
|
probably null |
Het |
Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
Tysnd1 |
G |
A |
10: 61,531,832 (GRCm39) |
W161* |
probably null |
Het |
Uggt2 |
A |
T |
14: 119,256,970 (GRCm39) |
M1088K |
probably benign |
Het |
|
Other mutations in Gls2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Gls2
|
APN |
10 |
128,036,840 (GRCm39) |
splice site |
probably null |
|
IGL00583:Gls2
|
APN |
10 |
128,040,751 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01444:Gls2
|
APN |
10 |
128,037,216 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02746:Gls2
|
APN |
10 |
128,036,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Gls2
|
UTSW |
10 |
128,045,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R0024:Gls2
|
UTSW |
10 |
128,035,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R0378:Gls2
|
UTSW |
10 |
128,043,180 (GRCm39) |
missense |
probably benign |
|
R1179:Gls2
|
UTSW |
10 |
128,035,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R1227:Gls2
|
UTSW |
10 |
128,035,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R1421:Gls2
|
UTSW |
10 |
128,037,217 (GRCm39) |
nonsense |
probably null |
|
R1750:Gls2
|
UTSW |
10 |
128,037,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R1952:Gls2
|
UTSW |
10 |
128,045,231 (GRCm39) |
missense |
probably benign |
|
R2218:Gls2
|
UTSW |
10 |
128,040,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Gls2
|
UTSW |
10 |
128,043,479 (GRCm39) |
nonsense |
probably null |
|
R2382:Gls2
|
UTSW |
10 |
128,039,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R5305:Gls2
|
UTSW |
10 |
128,040,578 (GRCm39) |
nonsense |
probably null |
|
R5435:Gls2
|
UTSW |
10 |
128,030,995 (GRCm39) |
intron |
probably benign |
|
R5767:Gls2
|
UTSW |
10 |
128,041,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7223:Gls2
|
UTSW |
10 |
128,035,063 (GRCm39) |
missense |
probably benign |
|
R7767:Gls2
|
UTSW |
10 |
128,030,998 (GRCm39) |
missense |
unknown |
|
R8068:Gls2
|
UTSW |
10 |
128,030,983 (GRCm39) |
missense |
unknown |
|
R8084:Gls2
|
UTSW |
10 |
128,035,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R8329:Gls2
|
UTSW |
10 |
128,037,154 (GRCm39) |
missense |
probably benign |
0.00 |
R8872:Gls2
|
UTSW |
10 |
128,040,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTAAAGGCCTTGTTGGTTCTG -3'
(R):5'- AGGGGCTAGACTTTGTTCCTC -3'
Sequencing Primer
(F):5'- CCTTGTTGGTTCTGGAAGGAATATAC -3'
(R):5'- ACCCAGCATCTTTGTTTTGAGACAG -3'
|
Posted On |
2015-08-18 |