Incidental Mutation 'R5767:Gls2'
ID |
446339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gls2
|
Ensembl Gene |
ENSMUSG00000044005 |
Gene Name |
glutaminase 2 (liver, mitochondrial) |
Synonyms |
Lga, A330074B06Rik |
MMRRC Submission |
043367-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5767 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
128030504-128045873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128041090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 394
(H394R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047376
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044776]
[ENSMUST00000061995]
[ENSMUST00000143827]
[ENSMUST00000159440]
|
AlphaFold |
Q571F8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044776
AA Change: H394R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047376 Gene: ENSMUSG00000044005 AA Change: H394R
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 |
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 |
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 |
0.7095 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
98% (52/53) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr6 |
A |
T |
10: 89,562,617 (GRCm39) |
D87E |
probably damaging |
Het |
AI429214 |
TCCCTGATGAAC |
TC |
8: 37,461,383 (GRCm39) |
|
probably null |
Het |
Ano3 |
A |
T |
2: 110,491,616 (GRCm39) |
Y887N |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,106,867 (GRCm39) |
D313G |
probably damaging |
Het |
Armc2 |
A |
G |
10: 41,887,923 (GRCm39) |
V20A |
probably benign |
Het |
Bltp3b |
A |
G |
10: 89,623,061 (GRCm39) |
D312G |
possibly damaging |
Het |
C2 |
T |
A |
17: 35,095,432 (GRCm39) |
N171I |
possibly damaging |
Het |
Cdh1 |
C |
A |
8: 107,395,187 (GRCm39) |
N865K |
probably damaging |
Het |
Cep89 |
T |
A |
7: 35,117,070 (GRCm39) |
V224E |
probably damaging |
Het |
Cfap251 |
G |
A |
5: 123,436,584 (GRCm39) |
V1038I |
probably benign |
Het |
Dennd2d |
C |
T |
3: 106,395,131 (GRCm39) |
|
probably benign |
Het |
Diaph1 |
T |
A |
18: 37,986,408 (GRCm39) |
K1157N |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,595,549 (GRCm39) |
L584* |
probably null |
Het |
Exoc4 |
G |
A |
6: 33,895,367 (GRCm39) |
A795T |
probably benign |
Het |
Fbln5 |
A |
T |
12: 101,731,468 (GRCm39) |
I242N |
probably damaging |
Het |
Gm27013 |
C |
T |
6: 130,652,921 (GRCm39) |
C847Y |
possibly damaging |
Het |
Ifna5 |
C |
A |
4: 88,754,036 (GRCm39) |
T92K |
possibly damaging |
Het |
Ireb2 |
A |
G |
9: 54,807,800 (GRCm39) |
M674V |
probably benign |
Het |
Itga2 |
C |
T |
13: 114,976,106 (GRCm39) |
V1089M |
possibly damaging |
Het |
Kctd16 |
A |
T |
18: 40,391,922 (GRCm39) |
Y170F |
probably benign |
Het |
Kif15 |
A |
G |
9: 122,843,039 (GRCm39) |
N45D |
possibly damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,496,901 (GRCm39) |
K420E |
possibly damaging |
Het |
Ms4a14 |
G |
T |
19: 11,279,391 (GRCm39) |
Q1056K |
probably benign |
Het |
Or11g1 |
T |
C |
14: 50,651,235 (GRCm39) |
V78A |
possibly damaging |
Het |
Or5k8 |
T |
C |
16: 58,644,316 (GRCm39) |
Y252C |
probably benign |
Het |
Or8k21 |
T |
A |
2: 86,144,742 (GRCm39) |
E296V |
probably damaging |
Het |
Ovch2 |
T |
C |
7: 107,381,185 (GRCm39) |
E571G |
probably benign |
Het |
Pmel |
T |
C |
10: 128,550,250 (GRCm39) |
V95A |
probably damaging |
Het |
Ptger2 |
G |
T |
14: 45,226,599 (GRCm39) |
G60C |
probably benign |
Het |
Ranbp2 |
T |
G |
10: 58,312,647 (GRCm39) |
S1122R |
probably benign |
Het |
Rasal2 |
T |
C |
1: 157,003,732 (GRCm39) |
D309G |
probably damaging |
Het |
Rcc2 |
T |
A |
4: 140,443,230 (GRCm39) |
C303S |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Serpini1 |
C |
T |
3: 75,520,388 (GRCm39) |
|
probably benign |
Het |
Sgo2a |
G |
T |
1: 58,058,819 (GRCm39) |
E1133* |
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Smarcc1 |
G |
A |
9: 109,961,251 (GRCm39) |
|
probably benign |
Het |
Tbcd |
A |
G |
11: 121,483,518 (GRCm39) |
E749G |
probably benign |
Het |
Tmc3 |
G |
A |
7: 83,249,190 (GRCm39) |
A260T |
probably benign |
Het |
Tnfrsf21 |
A |
G |
17: 43,348,550 (GRCm39) |
Y54C |
probably damaging |
Het |
Urb1 |
T |
A |
16: 90,573,051 (GRCm39) |
M994L |
probably benign |
Het |
Usp14 |
A |
T |
18: 10,009,935 (GRCm39) |
|
probably benign |
Het |
Vps13a |
T |
C |
19: 16,641,928 (GRCm39) |
Y2233C |
probably damaging |
Het |
Wnt2 |
G |
T |
6: 17,990,027 (GRCm39) |
A290E |
probably damaging |
Het |
Zc3h8 |
A |
T |
2: 128,772,812 (GRCm39) |
C225* |
probably null |
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 |
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 |
|
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'- TGCCCTCCTGTTAAACGGTAG -3'
(R):5'- GCATCTAAGATGGGAGCCAG -3'
Sequencing Primer
(F):5'- TAATGTGTTCGAGTCTACACTGC -3'
(R):5'- CTTAGCCTATTTGCCTGG -3'
|
Posted On |
2016-11-21 |