Incidental Mutation 'R1802:Grhpr'
ID 203199
Institutional Source Beutler Lab
Gene Symbol Grhpr
Ensembl Gene ENSMUSG00000035637
Gene Name glyoxylate reductase/hydroxypyruvate reductase
Synonyms 1110059D05Rik, 6430629L09Rik
MMRRC Submission 039832-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R1802 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 44981395-44990734 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 44988950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 202 (Y202*)
Ref Sequence ENSEMBL: ENSMUSP00000120254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045078] [ENSMUST00000055028] [ENSMUST00000107817] [ENSMUST00000151148] [ENSMUST00000180217] [ENSMUST00000151631]
AlphaFold Q91Z53
Predicted Effect probably null
Transcript: ENSMUST00000045078
AA Change: Y255*
SMART Domains Protein: ENSMUSP00000047218
Gene: ENSMUSG00000035637
AA Change: Y255*

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: ENSMUST00000055028
SMART Domains Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000151148
AA Change: Y202*
SMART Domains Protein: ENSMUSP00000120254
Gene: ENSMUSG00000035637
AA Change: Y202*

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 benign
Transcript: ENSMUST00000180217
SMART Domains Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657

DomainStartEndE-ValueType
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: ENSMUST00000151631
SMART Domains Protein: ENSMUSP00000117800
Gene: ENSMUSG00000035637

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 G T 15: 91,047,305 (GRCm39) R583S probably benign Het
Ago2 A T 15: 72,993,029 (GRCm39) F492Y probably damaging Het
Ano4 T A 10: 88,816,878 (GRCm39) D610V probably damaging Het
Atp6v0d2 A G 4: 19,922,366 (GRCm39) probably null Het
Atxn7 T G 14: 14,089,419 (GRCm38) S312A probably benign Het
Azgp1 A G 5: 137,983,493 (GRCm39) Y56C probably damaging Het
Bcan A G 3: 87,900,415 (GRCm39) V606A possibly damaging Het
Btnl9 T A 11: 49,066,617 (GRCm39) I335F probably benign Het
Ccdc63 T C 5: 122,267,940 (GRCm39) R9G probably damaging Het
Cdyl T A 13: 36,056,619 (GRCm39) L534* probably null Het
Celf2 T C 2: 6,554,744 (GRCm39) E445G probably damaging Het
Cfap97d1 T A 11: 101,879,302 (GRCm39) Y25N possibly damaging Het
Cimap3 T A 3: 105,921,866 (GRCm39) Q19L possibly damaging Het
Cnot8 T C 11: 58,008,361 (GRCm39) C276R probably benign Het
Dock4 A G 12: 40,844,597 (GRCm39) I1135V possibly damaging Het
Edc3 A G 9: 57,634,598 (GRCm39) D205G probably damaging Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Fancl T G 11: 26,409,709 (GRCm39) S188R probably benign Het
Fbn2 T A 18: 58,186,048 (GRCm39) K1767* probably null Het
Glrb A T 3: 80,769,264 (GRCm39) H154Q probably damaging Het
Gm19965 C T 1: 116,748,633 (GRCm39) R105* probably null Het
Herc2 A G 7: 55,834,080 (GRCm39) E3095G probably damaging Het
Il22ra2 A T 10: 19,502,447 (GRCm39) N89Y probably damaging Het
Itgb6 T C 2: 60,483,625 (GRCm39) D261G probably benign Het
Jmjd7 C T 2: 119,860,589 (GRCm39) L39F probably damaging Het
Kif1a T A 1: 92,993,871 (GRCm39) I360F probably damaging Het
Kmt2d T C 15: 98,760,866 (GRCm39) Q828R unknown Het
Marchf10 C A 11: 105,280,741 (GRCm39) A515S probably benign Het
Mios T A 6: 8,216,385 (GRCm39) Y436* probably null Het
Mprip C T 11: 59,645,867 (GRCm39) L684F probably damaging Het
Mybpc2 T A 7: 44,161,894 (GRCm39) N519Y possibly damaging Het
Naga C T 15: 82,221,669 (GRCm39) R24Q probably benign Het
Nr2c1 G A 10: 93,999,648 (GRCm39) V103M possibly damaging Het
Oca2 A G 7: 55,904,728 (GRCm39) S65G possibly damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or52ab7 A G 7: 102,977,854 (GRCm39) I54V probably benign Het
Phyhipl A T 10: 70,434,855 (GRCm39) I28N probably benign Het
Pik3cb C A 9: 98,983,342 (GRCm39) E89* probably null Het
Plekhm2 A T 4: 141,361,658 (GRCm39) S262T probably benign Het
Ppm1a T A 12: 72,840,481 (GRCm39) probably null Het
Relt T C 7: 100,499,401 (GRCm39) I173V probably damaging Het
Rfx7 T A 9: 72,526,919 (GRCm39) S1370T possibly damaging Het
Rps7 G A 12: 28,684,258 (GRCm39) R81C probably benign Het
Saa3 T C 7: 46,361,550 (GRCm39) *123W probably null Het
Serpina3b C A 12: 104,104,896 (GRCm39) H357Q probably damaging Het
Slc9c1 T A 16: 45,378,644 (GRCm39) N493K probably benign Het
Spata31 T C 13: 65,070,197 (GRCm39) Y782H probably benign Het
Tfap2a T C 13: 40,878,646 (GRCm39) D166G probably damaging Het
Thada A T 17: 84,771,835 (GRCm39) M9K probably benign Het
Tmem269 A T 4: 119,068,070 (GRCm39) probably null Het
Tnxb C A 17: 34,922,863 (GRCm39) P2482Q probably damaging Het
Vit T C 17: 78,912,940 (GRCm39) V291A possibly damaging Het
Zfp930 G T 8: 69,679,046 (GRCm39) A18S possibly damaging Het
Zup1 A T 10: 33,819,714 (GRCm39) V200D 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
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
Predicted Primers PCR Primer
(F):5'- CACAAGCTGGTAAGTGGCAG -3'
(R):5'- GTTAGCATTGCCTCTGGGAG -3'

Sequencing Primer
(F):5'- GGGCTCTGCTCAAGACAATC -3'
(R):5'- ATTGCCTCTGGGAGCTCCAC -3'
Posted On 2014-06-23