Incidental Mutation 'IGL00921:Grhpr'
| ID |
27239 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Grhpr
|
| Ensembl Gene |
ENSMUSG00000035637 |
| Gene Name |
glyoxylate reductase/hydroxypyruvate reductase |
| Synonyms |
1110059D05Rik, 6430629L09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL00921
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
44981395-44990734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44988991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 216
(D216G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045078]
[ENSMUST00000055028]
[ENSMUST00000107817]
[ENSMUST00000151148]
[ENSMUST00000151631]
[ENSMUST00000180217]
|
| AlphaFold |
Q91Z53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045078
AA Change: D269G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047218
Gene: ENSMUSG00000035637
AA Change: D269G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
9 |
327 |
1.4e-28 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
116 |
295 |
1.3e-59 |
PFAM |
|
Pfam:NAD_binding_2
|
153 |
272 |
3.4e-8 |
PFAM |
|
Pfam:F420_oxidored
|
155 |
244 |
3.2e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055028
|
| SMART Domains |
Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
123 |
1.06e-28 |
SMART |
|
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
554 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
606 |
628 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
634 |
654 |
2.47e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107817
|
| SMART Domains |
Protein: ENSMUSP00000103447
Gene: ENSMUSG00000049657
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
123 |
1.06e-28 |
SMART |
|
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
554 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
606 |
628 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
634 |
654 |
2.47e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150394
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151148
AA Change: D216G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120254
Gene: ENSMUSG00000035637
AA Change: D216G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
10 |
207 |
4.5e-15 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
63 |
222 |
2.2e-51 |
PFAM |
|
Pfam:NAD_binding_2
|
100 |
219 |
3.3e-9 |
PFAM |
|
Pfam:F420_oxidored
|
102 |
191 |
5.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151631
|
| SMART Domains |
Protein: ENSMUSP00000117800
Gene: ENSMUSG00000035637
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
3 |
191 |
1.7e-24 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
110 |
196 |
7.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180217
|
| SMART Domains |
Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
123 |
1.06e-28 |
SMART |
|
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
554 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
606 |
628 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
634 |
654 |
2.47e1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the D-isomer specific 2-hydroxyacid dehydrogenase family of proteins. The encoded protein catalyzes three enzymatic reactions: the conversion of hydroxypyruvate to D-glycerate as well as the reverse reaction, and the conversion of glyoxylate to glycolate. Homozygous knockout mice exhibit elevated synthesis of oxalate and glycerate. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit primary hyperoxaluria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,324,888 (GRCm39) |
I1530T |
probably damaging |
Het |
| Actb |
T |
C |
5: 142,890,191 (GRCm39) |
E237G |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,690,585 (GRCm39) |
E931G |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,185,387 (GRCm39) |
T375A |
probably benign |
Het |
| D1Pas1 |
A |
G |
1: 186,700,983 (GRCm39) |
D304G |
probably benign |
Het |
| Ddx49 |
G |
A |
8: 70,747,406 (GRCm39) |
Q345* |
probably null |
Het |
| Dnttip2 |
A |
T |
3: 122,068,939 (GRCm39) |
K51N |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,543,066 (GRCm39) |
E621G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,729,126 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
A |
G |
7: 4,667,750 (GRCm39) |
S248P |
probably damaging |
Het |
| Kat6a |
C |
T |
8: 23,430,279 (GRCm39) |
P1878L |
unknown |
Het |
| Klrg1 |
A |
T |
6: 122,259,711 (GRCm39) |
D20E |
probably benign |
Het |
| Layn |
G |
A |
9: 50,968,708 (GRCm39) |
T345I |
probably damaging |
Het |
| Mpi |
G |
A |
9: 57,459,549 (GRCm39) |
L9F |
probably damaging |
Het |
| Nbn |
T |
C |
4: 15,963,833 (GRCm39) |
V78A |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,701,427 (GRCm39) |
I1503T |
probably damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,792,125 (GRCm39) |
E577* |
probably null |
Het |
| Prim2 |
G |
T |
1: 33,551,241 (GRCm39) |
H292Q |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,636,302 (GRCm39) |
N630D |
probably benign |
Het |
| Trim80 |
A |
G |
11: 115,338,490 (GRCm39) |
N440S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,766,746 (GRCm39) |
S3111G |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,447,160 (GRCm39) |
T339A |
probably benign |
Het |
| Zbtb21 |
A |
C |
16: 97,753,222 (GRCm39) |
S354A |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,736,696 (GRCm39) |
T980A |
possibly damaging |
Het |
|
| Other mutations in Grhpr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01330:Grhpr
|
APN |
4 |
44,986,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03104:Grhpr
|
APN |
4 |
44,983,867 (GRCm39) |
splice site |
probably benign |
|
|
R0054:Grhpr
|
UTSW |
4 |
44,988,915 (GRCm39) |
unclassified |
probably benign |
|
|
R0054:Grhpr
|
UTSW |
4 |
44,988,915 (GRCm39) |
unclassified |
probably benign |
|
|
R1257:Grhpr
|
UTSW |
4 |
44,989,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Grhpr
|
UTSW |
4 |
44,988,950 (GRCm39) |
nonsense |
probably null |
|
|
R5348:Grhpr
|
UTSW |
4 |
44,985,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7002:Grhpr
|
UTSW |
4 |
44,990,427 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7040:Grhpr
|
UTSW |
4 |
44,985,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7362:Grhpr
|
UTSW |
4 |
44,987,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7733:Grhpr
|
UTSW |
4 |
44,981,494 (GRCm39) |
start gained |
probably benign |
|
|
R7989:Grhpr
|
UTSW |
4 |
44,989,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9354:Grhpr
|
UTSW |
4 |
44,981,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation