Incidental Mutation 'R0378:Gls2'
ID |
36479 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gls2
|
Ensembl Gene |
ENSMUSG00000044005 |
Gene Name |
glutaminase 2 (liver, mitochondrial) |
Synonyms |
Lga, A330074B06Rik |
MMRRC Submission |
038584-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0378 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
128030504-128045873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 128043180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 457
(L457R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047376
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044776]
[ENSMUST00000061995]
[ENSMUST00000143827]
[ENSMUST00000159440]
|
AlphaFold |
Q571F8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044776
AA Change: L457R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000047376 Gene: ENSMUSG00000044005 AA Change: L457R
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: ENSMUST00000061995
|
SMART Domains |
Protein: ENSMUSP00000054731 Gene: ENSMUSG00000051346
Domain | Start | End | E-Value | Type |
Blast:PRY
|
29 |
84 |
2e-26 |
BLAST |
Pfam:SPRY
|
87 |
199 |
1.2e-10 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000132441
AA Change: L30R
|
SMART Domains |
Protein: ENSMUSP00000115788 Gene: ENSMUSG00000044005 AA Change: L30R
Domain | Start | End | E-Value | Type |
Pfam:Glutaminase
|
1 |
37 |
7.9e-9 |
PFAM |
ANK
|
92 |
122 |
3.76e-5 |
SMART |
ANK
|
126 |
155 |
1.21e1 |
SMART |
|
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 |
noncoding transcript
Transcript: ENSMUST00000145591
|
Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000159440
|
SMART Domains |
Protein: ENSMUSP00000124239 Gene: ENSMUSG00000044005
Domain | Start | End | E-Value | Type |
PDB:4JKT|D
|
67 |
134 |
9e-25 |
PDB |
|
Meta Mutation Damage Score |
0.0669 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
95% (40/42) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
C |
A |
8: 114,469,749 (GRCm39) |
R651L |
probably damaging |
Het |
Amd1 |
T |
C |
10: 40,165,380 (GRCm39) |
D317G |
possibly damaging |
Het |
Artn |
A |
G |
4: 117,784,815 (GRCm39) |
|
probably benign |
Het |
Bub1b |
T |
A |
2: 118,471,604 (GRCm39) |
V988E |
probably benign |
Het |
Cyp2c65 |
G |
T |
19: 39,061,662 (GRCm39) |
C216F |
probably benign |
Het |
Cyp3a11 |
T |
C |
5: 145,805,417 (GRCm39) |
E200G |
probably benign |
Het |
Cyp3a25 |
T |
A |
5: 145,923,652 (GRCm39) |
K330N |
probably damaging |
Het |
Duox2 |
C |
A |
2: 122,115,064 (GRCm39) |
V1138L |
probably benign |
Het |
Erc2 |
A |
G |
14: 27,733,651 (GRCm39) |
D567G |
probably damaging |
Het |
Eri2 |
A |
G |
7: 119,393,139 (GRCm39) |
|
probably null |
Het |
Foxa3 |
A |
G |
7: 18,757,294 (GRCm39) |
Y17H |
probably damaging |
Het |
Fto |
T |
C |
8: 92,200,940 (GRCm39) |
S324P |
probably damaging |
Het |
Get3 |
A |
T |
8: 85,751,893 (GRCm39) |
M1K |
probably null |
Het |
Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
Gtf3c1 |
G |
A |
7: 125,246,786 (GRCm39) |
R1508* |
probably null |
Het |
Kif21a |
T |
C |
15: 90,853,977 (GRCm39) |
|
probably null |
Het |
Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
Lgr5 |
T |
C |
10: 115,290,404 (GRCm39) |
D456G |
probably damaging |
Het |
Mau2 |
A |
G |
8: 70,483,305 (GRCm39) |
S186P |
probably damaging |
Het |
Msr1 |
T |
C |
8: 40,042,423 (GRCm39) |
D384G |
possibly damaging |
Het |
Ncf4 |
T |
C |
15: 78,137,503 (GRCm39) |
V93A |
probably damaging |
Het |
Oas1f |
T |
G |
5: 120,994,489 (GRCm39) |
C337G |
probably damaging |
Het |
Or10al3 |
A |
G |
17: 38,011,932 (GRCm39) |
M124V |
probably damaging |
Het |
Or5p58 |
A |
T |
7: 107,694,429 (GRCm39) |
F116Y |
probably benign |
Het |
Or6c33 |
T |
A |
10: 129,853,872 (GRCm39) |
L214H |
probably damaging |
Het |
Pwwp3a |
C |
A |
10: 80,074,713 (GRCm39) |
|
probably null |
Het |
Rasl10b |
T |
C |
11: 83,309,519 (GRCm39) |
S159P |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Smg8 |
C |
A |
11: 86,971,249 (GRCm39) |
D841Y |
probably damaging |
Het |
Sox7 |
T |
C |
14: 64,181,398 (GRCm39) |
V65A |
probably damaging |
Het |
Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
Srsf10 |
A |
G |
4: 135,590,501 (GRCm39) |
Y142C |
possibly damaging |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tcerg1l |
A |
G |
7: 137,878,384 (GRCm39) |
V326A |
probably benign |
Het |
Tcl1b5 |
T |
A |
12: 105,145,326 (GRCm39) |
W97R |
probably damaging |
Het |
Tmem108 |
T |
C |
9: 103,376,856 (GRCm39) |
R198G |
possibly damaging |
Het |
Ube2ql1 |
T |
A |
13: 69,887,017 (GRCm39) |
Q148L |
possibly damaging |
Het |
Vmn1r5 |
A |
T |
6: 56,962,570 (GRCm39) |
I82L |
probably benign |
Het |
Wdr6 |
A |
T |
9: 108,453,063 (GRCm39) |
S273R |
probably damaging |
Het |
Ylpm1 |
C |
T |
12: 85,043,850 (GRCm39) |
|
probably benign |
Het |
Zfp90 |
G |
A |
8: 107,152,138 (GRCm39) |
R617Q |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCAAAGGGGCATCAACTTCTG -3'
(R):5'- AGGCCACTGCTGAAGTCTTGTG -3'
Sequencing Primer
(F):5'- tcaggaggcagaggcag -3'
(R):5'- GAAGTCTTGTGGAATGTATGATACC -3'
|
Posted On |
2013-05-09 |