Incidental Mutation 'R5348:Grhpr'
ID |
500964 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grhpr
|
Ensembl Gene |
ENSMUSG00000035637 |
Gene Name |
glyoxylate reductase/hydroxypyruvate reductase |
Synonyms |
1110059D05Rik, 6430629L09Rik |
MMRRC Submission |
042927-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R5348 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
44981395-44990734 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44985393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 158
(I158T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045078]
[ENSMUST00000128973]
[ENSMUST00000151148]
[ENSMUST00000151631]
|
AlphaFold |
Q91Z53 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045078
AA Change: I164T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047218 Gene: ENSMUSG00000035637 AA Change: I164T
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: ENSMUST00000128973
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150394
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151148
AA Change: I111T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120254 Gene: ENSMUSG00000035637 AA Change: I111T
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 damaging
Transcript: ENSMUST00000151631
AA Change: I158T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117800 Gene: ENSMUSG00000035637 AA Change: I158T
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,978,634 (GRCm39) |
C275S |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,102,295 (GRCm39) |
E1331G |
probably damaging |
Het |
Cdk12 |
T |
A |
11: 98,095,118 (GRCm39) |
S309T |
probably benign |
Het |
Cep295nl |
T |
C |
11: 118,224,425 (GRCm39) |
R140G |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,470,155 (GRCm39) |
V485A |
probably damaging |
Het |
Chn2 |
A |
G |
6: 54,277,203 (GRCm39) |
I279V |
probably damaging |
Het |
Cux2 |
A |
G |
5: 122,004,041 (GRCm39) |
S1032P |
probably damaging |
Het |
Ddx55 |
T |
A |
5: 124,692,628 (GRCm39) |
M44K |
probably damaging |
Het |
Dpyd |
T |
A |
3: 118,575,592 (GRCm39) |
H143Q |
probably benign |
Het |
Fbxo10 |
A |
G |
4: 45,058,934 (GRCm39) |
W268R |
probably damaging |
Het |
Gmfg |
A |
G |
7: 28,145,819 (GRCm39) |
D86G |
probably benign |
Het |
Gpd1 |
T |
C |
15: 99,620,021 (GRCm39) |
V273A |
possibly damaging |
Het |
Itpr2 |
A |
G |
6: 146,378,191 (GRCm39) |
F53L |
possibly damaging |
Het |
Kctd21 |
A |
G |
7: 96,997,177 (GRCm39) |
I217V |
probably benign |
Het |
Lrfn2 |
A |
G |
17: 49,403,718 (GRCm39) |
T614A |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,880,963 (GRCm39) |
D491V |
probably benign |
Het |
Myo7b |
T |
C |
18: 32,116,972 (GRCm39) |
E916G |
probably damaging |
Het |
Nf1 |
C |
T |
11: 79,455,725 (GRCm39) |
T550I |
probably damaging |
Het |
Nsd1 |
A |
G |
13: 55,460,147 (GRCm39) |
T2125A |
probably benign |
Het |
Olfml2b |
A |
G |
1: 170,489,995 (GRCm39) |
E205G |
probably benign |
Het |
Or8k37 |
A |
T |
2: 86,469,150 (GRCm39) |
L301I |
probably benign |
Het |
Papolb |
T |
C |
5: 142,514,972 (GRCm39) |
T224A |
possibly damaging |
Het |
Pcnx2 |
T |
C |
8: 126,545,495 (GRCm39) |
E1172G |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,675,317 (GRCm39) |
L362S |
possibly damaging |
Het |
Ppp1r9b |
T |
A |
11: 94,887,438 (GRCm39) |
Y59* |
probably null |
Het |
Pramel12 |
T |
C |
4: 143,143,351 (GRCm39) |
L39P |
probably damaging |
Het |
Rapgef5 |
T |
A |
12: 117,652,346 (GRCm39) |
S76R |
probably benign |
Het |
Rnh1 |
A |
T |
7: 140,743,321 (GRCm39) |
V218D |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Slc4a7 |
G |
T |
14: 14,786,310 (GRCm38) |
V999L |
probably benign |
Het |
Slco4c1 |
A |
T |
1: 96,770,254 (GRCm39) |
I270N |
probably damaging |
Het |
Tdp1 |
A |
G |
12: 99,881,765 (GRCm39) |
Y498C |
probably damaging |
Het |
Tfip11 |
A |
G |
5: 112,483,534 (GRCm39) |
S650G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,608,638 (GRCm39) |
T17793A |
possibly damaging |
Het |
Ulk2 |
T |
C |
11: 61,674,439 (GRCm39) |
T856A |
probably benign |
Het |
Vps13d |
C |
T |
4: 144,792,459 (GRCm39) |
G3726E |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACCTGGAAGCAGATTTAGCTTC -3'
(R):5'- AGCATCTTACAGCCTTTGTGC -3'
Sequencing Primer
(F):5'- TTTAGCTTCAGACAAGGCCAG -3'
(R):5'- TAGTAGATGAACCCTGGCTCTCAG -3'
|
Posted On |
2017-12-01 |