Incidental Mutation 'R0024:Gls2'
| ID |
15155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gls2
|
| Ensembl Gene |
ENSMUSG00000044005 |
| Gene Name |
glutaminase 2 (liver, mitochondrial) |
| Synonyms |
Lga, A330074B06Rik |
| MMRRC Submission |
038319-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0024 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128030504-128045873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 128035125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 86
(R86H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044776]
[ENSMUST00000123291]
[ENSMUST00000143827]
[ENSMUST00000159440]
|
| AlphaFold |
Q571F8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044776
AA Change: R86H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: R86H
| 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 |
unknown
Transcript: ENSMUST00000123291
AA Change: V128I
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123385
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123436
Gene: ENSMUSG00000044005
AA Change: R78H
| 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 |
probably damaging
Transcript: ENSMUST00000143827
AA Change: R86H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119763
Gene: ENSMUSG00000044005
AA Change: R86H
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4JKT|D
|
67 |
135 |
5e-25 |
PDB |
|
low complexity region
|
170 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159440
AA Change: R86H
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124239
Gene: ENSMUSG00000044005
AA Change: R86H
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4JKT|D
|
67 |
134 |
9e-25 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152928
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145591
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 79.2%
- 3x: 69.7%
- 10x: 44.0%
- 20x: 23.5%
|
| Validation Efficiency |
95% (75/79) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
C |
8: 84,454,913 (GRCm39) |
T260A |
probably damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
| Akip1 |
T |
C |
7: 109,303,345 (GRCm39) |
S63P |
probably benign |
Het |
| Ankrd34c |
G |
A |
9: 89,611,580 (GRCm39) |
P254S |
possibly damaging |
Het |
| Aqp8 |
T |
C |
7: 123,066,663 (GRCm39) |
I256T |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
| Astn1 |
G |
A |
1: 158,511,785 (GRCm39) |
S1209N |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,576,818 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
| Cadm4 |
T |
C |
7: 24,202,169 (GRCm39) |
L336P |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,372 (GRCm39) |
M281V |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,123,866 (GRCm39) |
H1131R |
probably damaging |
Het |
| Dll3 |
A |
G |
7: 27,999,586 (GRCm39) |
|
probably benign |
Het |
| Dscam |
G |
A |
16: 96,394,585 (GRCm39) |
R1906* |
probably null |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Eif2ak3 |
A |
G |
6: 70,869,340 (GRCm39) |
T676A |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,420,507 (GRCm39) |
M428T |
probably benign |
Het |
| Fry |
T |
G |
5: 150,304,268 (GRCm39) |
S553A |
probably benign |
Het |
| Gm14340 |
T |
A |
2: 180,466,043 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9457 |
A |
C |
8: 4,863,131 (GRCm39) |
|
noncoding transcript |
Het |
| Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,401,687 (GRCm39) |
T473A |
probably benign |
Het |
| Krt34 |
A |
T |
11: 99,931,863 (GRCm39) |
C119S |
probably benign |
Het |
| Krt6a |
A |
G |
15: 101,599,150 (GRCm39) |
|
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,828 (GRCm39) |
T164A |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,955,109 (GRCm39) |
Y701N |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,133,399 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,326,303 (GRCm39) |
I79N |
possibly damaging |
Het |
| Prpf31 |
C |
A |
7: 3,639,658 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rsc1a1 |
T |
C |
4: 141,412,583 (GRCm39) |
K110E |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,025,537 (GRCm39) |
|
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 86,946,477 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,688,956 (GRCm39) |
|
probably benign |
Het |
| Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,295,264 (GRCm39) |
I310M |
probably damaging |
Het |
| Tpm3 |
C |
A |
3: 89,994,756 (GRCm39) |
|
probably null |
Het |
| Ttc27 |
T |
C |
17: 75,077,259 (GRCm39) |
F385L |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,281,755 (GRCm39) |
V3301A |
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 |
|
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 |
|
R4536:Gls2
|
UTSW |
10 |
128,036,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2012-12-12 |
Incidental Mutation