Incidental Mutation 'IGL01330:Grhpr'
ID74472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grhpr
Ensembl Gene ENSMUSG00000035637
Gene Nameglyoxylate reductase/hydroxypyruvate reductase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock #IGL01330
Quality Score
Status
Chromosome4
Chromosomal Location44981395-44990734 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44986375 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 142 (F142L)
Ref Sequence ENSEMBL: ENSMUSP00000120254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045078] [ENSMUST00000055028] [ENSMUST00000128973] [ENSMUST00000151148] [ENSMUST00000151631] [ENSMUST00000180217]
Predicted Effect probably benign
Transcript: ENSMUST00000045078
AA Change: F195L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047218
Gene: ENSMUSG00000035637
AA Change: F195L

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: ENSMUST00000128973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150394
Predicted Effect probably benign
Transcript: ENSMUST00000151148
AA Change: F142L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000120254
Gene: ENSMUSG00000035637
AA Change: F142L

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 unknown
Transcript: ENSMUST00000151631
AA Change: F189L
SMART Domains Protein: ENSMUSP00000117800
Gene: ENSMUSG00000035637
AA Change: F189L

DomainStartEndE-ValueType
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

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A G 19: 31,920,951 E245G possibly damaging Het
Acap2 T C 16: 31,154,677 I43V probably damaging Het
Acot11 T C 4: 106,771,484 T36A probably benign Het
Bsn A G 9: 108,110,913 probably benign Het
Capza2 T C 6: 17,654,171 probably null Het
Cerkl A G 2: 79,368,781 I155T possibly damaging Het
Dclre1b T C 3: 103,803,126 T490A probably benign Het
Efcab6 G A 15: 84,044,300 S31L probably benign Het
Faim T A 9: 98,992,535 M67K probably damaging Het
Frem2 T G 3: 53,655,241 Q615P possibly damaging Het
Fut9 A G 4: 25,619,791 V341A possibly damaging Het
Kif14 T C 1: 136,476,374 V532A probably damaging Het
Klk1b9 T A 7: 43,978,443 L55* probably null Het
Kmt2e C A 5: 23,497,948 P1042Q possibly damaging Het
Mpped1 T A 15: 83,800,119 I114N probably damaging Het
Mtap C A 4: 89,171,223 T148K probably damaging Het
Muc16 G A 9: 18,508,507 A8347V possibly damaging Het
Nhs A T X: 161,841,453 S967T probably damaging Het
Npas3 A G 12: 54,048,819 Y344C probably damaging Het
Olfr1431 T C 19: 12,210,040 V158A possibly damaging Het
Olfr635 A T 7: 103,980,142 probably benign Het
Olfr876 T A 9: 37,804,220 F103Y probably damaging Het
Osmr A G 15: 6,842,028 Y303H probably damaging Het
Pcdhb8 A T 18: 37,357,578 I770F probably benign Het
Pde4a C T 9: 21,192,438 probably benign Het
Prkacb T G 3: 146,751,511 N79T probably damaging Het
Psd3 A C 8: 67,697,178 Y1222D probably damaging Het
Rrbp1 T A 2: 143,968,618 E847D possibly damaging Het
Sbno1 A T 5: 124,391,979 D912E probably damaging Het
Sgsm3 T A 15: 81,010,852 probably benign Het
Shcbp1 T C 8: 4,736,372 T577A probably benign Het
Siglec1 A T 2: 131,075,005 L1110* probably null Het
Siglec1 A T 2: 131,083,536 V335D probably damaging Het
Slc4a11 A G 2: 130,687,682 I335T probably benign Het
Smchd1 A C 17: 71,436,788 S461A probably benign Het
Spata16 C T 3: 26,914,715 P415S probably damaging Het
Tdrd12 G A 7: 35,505,034 S217L possibly damaging Het
Tmem156 C T 5: 65,080,182 R45H probably benign Het
Vmn2r90 T C 17: 17,733,280 S569P probably benign Het
Vps13c T A 9: 67,964,108 V3220E probably damaging Het
Wdr59 T C 8: 111,481,933 N439S possibly damaging Het
Zfp568 A G 7: 30,022,277 M215V probably benign Het
Zgrf1 T A 3: 127,584,007 V967E probably damaging Het
Zkscan16 A G 4: 58,956,483 D255G possibly damaging Het
Other mutations in Grhpr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Grhpr APN 4 44988991 missense probably damaging 1.00
IGL03104:Grhpr APN 4 44983867 splice site probably benign
R0054:Grhpr UTSW 4 44988915 unclassified probably benign
R0054:Grhpr UTSW 4 44988915 unclassified probably benign
R1257:Grhpr UTSW 4 44989045 missense probably damaging 1.00
R1802:Grhpr UTSW 4 44988950 nonsense probably null
R5348:Grhpr UTSW 4 44985393 missense probably damaging 1.00
R7002:Grhpr UTSW 4 44990427 missense probably damaging 0.99
R7040:Grhpr UTSW 4 44985362 missense probably damaging 1.00
R7362:Grhpr UTSW 4 44987255 missense probably benign 0.01
Posted On2013-10-07