Incidental Mutation 'R2218:Gls2'
| ID |
241271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gls2
|
| Ensembl Gene |
ENSMUSG00000044005 |
| Gene Name |
glutaminase 2 (liver, mitochondrial) |
| Synonyms |
Lga, A330074B06Rik |
| MMRRC Submission |
040220-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2218 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128030504-128045873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128040583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 328
(L328P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044776]
[ENSMUST00000143827]
[ENSMUST00000159440]
|
| AlphaFold |
Q571F8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044776
AA Change: L328P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: L328P
| 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: ENSMUST00000132441
|
| SMART Domains |
Protein: ENSMUSP00000115788
Gene: ENSMUSG00000044005
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000145591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152928
|
| 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: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abitram |
G |
T |
4: 56,802,693 (GRCm39) |
V26L |
probably damaging |
Het |
| Acap3 |
A |
G |
4: 155,988,319 (GRCm39) |
|
probably null |
Het |
| Appl2 |
G |
T |
10: 83,444,601 (GRCm39) |
F472L |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,140,464 (GRCm39) |
V319D |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,941,140 (GRCm39) |
Y56H |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,680,952 (GRCm39) |
L526P |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,845,048 (GRCm39) |
D679N |
probably damaging |
Het |
| Canx |
C |
T |
11: 50,201,694 (GRCm39) |
V59I |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,311,094 (GRCm39) |
V115A |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,768,907 (GRCm39) |
Q746L |
probably damaging |
Het |
| F13b |
G |
T |
1: 139,434,582 (GRCm39) |
S116I |
probably benign |
Het |
| Flt4 |
T |
A |
11: 49,515,555 (GRCm39) |
S48T |
probably benign |
Het |
| Gcn1 |
C |
A |
5: 115,757,720 (GRCm39) |
S2475Y |
probably benign |
Het |
| Gm7535 |
A |
G |
17: 18,131,936 (GRCm39) |
|
probably benign |
Het |
| Htr3a |
T |
C |
9: 48,819,911 (GRCm39) |
Y73C |
probably damaging |
Het |
| Iapp |
G |
A |
6: 142,249,096 (GRCm39) |
A50T |
probably benign |
Het |
| Il10ra |
T |
C |
9: 45,176,914 (GRCm39) |
D137G |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,986,988 (GRCm39) |
S9G |
probably null |
Het |
| Lamc2 |
T |
A |
1: 153,006,525 (GRCm39) |
R875S |
probably benign |
Het |
| Mcoln1 |
C |
A |
8: 3,555,813 (GRCm39) |
T36K |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,233,227 (GRCm39) |
H885R |
probably benign |
Het |
| Nsrp1 |
A |
T |
11: 76,936,587 (GRCm39) |
Y536* |
probably null |
Het |
| Or10al4 |
A |
T |
17: 38,037,145 (GRCm39) |
I77F |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,633,511 (GRCm39) |
|
probably null |
Het |
| Pp2d1 |
C |
A |
17: 53,822,482 (GRCm39) |
V195L |
probably benign |
Het |
| Rag1 |
T |
C |
2: 101,474,491 (GRCm39) |
H217R |
probably benign |
Het |
| Ramp2 |
A |
G |
11: 101,138,457 (GRCm39) |
E86G |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,416,005 (GRCm39) |
|
probably null |
Het |
| Sema5a |
A |
T |
15: 32,631,455 (GRCm39) |
I613F |
probably damaging |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Slc39a11 |
C |
A |
11: 113,450,376 (GRCm39) |
|
probably null |
Het |
| Slc47a2 |
T |
C |
11: 61,204,497 (GRCm39) |
T285A |
probably benign |
Het |
| Timd2 |
T |
A |
11: 46,577,844 (GRCm39) |
I96L |
probably damaging |
Het |
| Tkt |
G |
T |
14: 30,289,018 (GRCm39) |
|
probably null |
Het |
| Tle1 |
A |
T |
4: 72,117,556 (GRCm39) |
F35I |
possibly damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,658 (GRCm39) |
I236T |
possibly damaging |
Het |
| Ttll13 |
A |
G |
7: 79,902,250 (GRCm39) |
K109R |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,544,924 (GRCm39) |
S1628P |
probably damaging |
Het |
| Zan |
C |
A |
5: 137,408,568 (GRCm39) |
|
probably benign |
Het |
| Zbtb22 |
T |
G |
17: 34,136,939 (GRCm39) |
D361E |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,120,756 (GRCm39) |
N277S |
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 |
|
|
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'- TTCAGGTTCTGAAGTTCCCAC -3'
(R):5'- AGATCAAGGGCAGCCATCATG -3'
Sequencing Primer
(F):5'- GAAGTTCCCACTAATGCTCTGTGAG -3'
(R):5'- AGGGCAGCCATCATGTCCAC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation