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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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