Incidental Mutation 'R7989:Grhpr'
| ID |
651630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grhpr
|
| Ensembl Gene |
ENSMUSG00000035637 |
| Gene Name |
glyoxylate reductase/hydroxypyruvate reductase |
| Synonyms |
1110059D05Rik, 6430629L09Rik |
| MMRRC Submission |
046030-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R7989 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
44981395-44990734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44989008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 275
(P275S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047218
(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: P275S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047218
Gene: ENSMUSG00000035637
AA Change: P275S
| 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 |
probably damaging
Transcript: ENSMUST00000151148
AA Change: P222S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120254
Gene: ENSMUSG00000035637
AA Change: P222S
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,875,278 (GRCm39) |
E631D |
probably benign |
Het |
| Abcc12 |
T |
C |
8: 87,232,108 (GRCm39) |
T1317A |
probably benign |
Het |
| Abcc4 |
T |
C |
14: 118,836,772 (GRCm39) |
Q663R |
probably benign |
Het |
| Arhgef28 |
G |
A |
13: 98,036,243 (GRCm39) |
T1672I |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,677,012 (GRCm39) |
D496E |
probably benign |
Het |
| Dse |
A |
T |
10: 34,029,454 (GRCm39) |
Y545* |
probably null |
Het |
| Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Fam124b |
A |
T |
1: 80,191,311 (GRCm39) |
L24Q |
probably damaging |
Het |
| Fam180a |
A |
T |
6: 35,292,273 (GRCm39) |
N44K |
probably damaging |
Het |
| Gabrg3 |
G |
T |
7: 56,374,389 (GRCm39) |
N392K |
possibly damaging |
Het |
| Gprin2 |
G |
A |
14: 33,916,661 (GRCm39) |
R370* |
probably null |
Het |
| Hsf5 |
A |
G |
11: 87,526,450 (GRCm39) |
Q374R |
probably benign |
Het |
| Igtp |
A |
C |
11: 58,097,205 (GRCm39) |
K125N |
probably damaging |
Het |
| Il17a |
T |
C |
1: 20,802,438 (GRCm39) |
V49A |
possibly damaging |
Het |
| Klhl12 |
T |
C |
1: 134,417,143 (GRCm39) |
S552P |
probably benign |
Het |
| Or4c15 |
T |
C |
2: 88,759,858 (GRCm39) |
D267G |
probably damaging |
Het |
| Or5d45 |
T |
A |
2: 88,153,164 (GRCm39) |
N295I |
probably damaging |
Het |
| Pkd2l1 |
A |
T |
19: 44,142,507 (GRCm39) |
C512S |
probably benign |
Het |
| Plekha7 |
G |
A |
7: 115,757,558 (GRCm39) |
P464L |
probably benign |
Het |
| Plk5 |
A |
G |
10: 80,199,899 (GRCm39) |
R469G |
probably benign |
Het |
| Pphln1 |
C |
A |
15: 93,386,960 (GRCm39) |
H353N |
possibly damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,166 (GRCm39) |
N341D |
probably damaging |
Het |
| Skp2 |
C |
T |
15: 9,127,979 (GRCm39) |
R129H |
probably benign |
Het |
| Slc5a6 |
A |
G |
5: 31,199,480 (GRCm39) |
|
probably null |
Het |
| Spata31d1b |
C |
T |
13: 59,866,182 (GRCm39) |
P1110L |
possibly damaging |
Het |
| Speer4a2 |
A |
T |
5: 26,290,643 (GRCm39) |
L176Q |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,226,170 (GRCm39) |
S368P |
|
Het |
| Tiam2 |
G |
T |
17: 3,568,524 (GRCm39) |
E1557* |
probably null |
Het |
| Tmem200a |
C |
A |
10: 25,869,955 (GRCm39) |
V105F |
probably benign |
Het |
| Trbv3 |
A |
T |
6: 41,025,576 (GRCm39) |
K55N |
probably benign |
Het |
| Trio |
A |
G |
15: 27,773,021 (GRCm39) |
L1881P |
probably damaging |
Het |
| Unc13a |
G |
A |
8: 72,104,917 (GRCm39) |
R782W |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,925,126 (GRCm39) |
M117K |
|
Het |
| Zfp655 |
T |
A |
5: 145,181,380 (GRCm39) |
C413S |
probably damaging |
Het |
|
| Other mutations in Grhpr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00921:Grhpr
|
APN |
4 |
44,988,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
R9354:Grhpr
|
UTSW |
4 |
44,981,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTAGAAGTTGGTGTAGGTACC -3'
(R):5'- ATCTGTCTGAGCATGGCCTTC -3'
Sequencing Primer
(F):5'- AAGTTGGTGTAGGTACCTGGTGAG -3'
(R):5'- GAGCATGGCCTTCCTGTTAAACAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation