Incidental Mutation 'IGL03104:Grhpr'
ID 418893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grhpr
Ensembl Gene ENSMUSG00000035637
Gene Name glyoxylate reductase/hydroxypyruvate reductase
Synonyms 1110059D05Rik, 6430629L09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL03104
Quality Score
Status
Chromosome 4
Chromosomal Location 44981395-44990734 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 44983867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045078] [ENSMUST00000128973] [ENSMUST00000151148] [ENSMUST00000151631]
AlphaFold Q91Z53
Predicted Effect probably benign
Transcript: ENSMUST00000045078
SMART Domains Protein: ENSMUSP00000047218
Gene: ENSMUSG00000035637

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 benign
Transcript: ENSMUST00000151148
SMART Domains Protein: ENSMUSP00000120254
Gene: ENSMUSG00000035637

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: 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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 C A 1: 58,321,918 (GRCm39) T70K probably benign Het
Armt1 T A 10: 4,389,615 (GRCm39) Y91N possibly damaging Het
Atp1a2 A G 1: 172,120,934 (GRCm39) L46S probably damaging Het
Baz1a A G 12: 54,941,743 (GRCm39) S1488P probably damaging Het
Coro7 T A 16: 4,446,990 (GRCm39) E793V probably damaging Het
Ctnnbl1 G T 2: 157,732,885 (GRCm39) R555L probably damaging Het
Dclk2 A G 3: 86,743,666 (GRCm39) C268R probably damaging Het
Dock7 A T 4: 98,847,260 (GRCm39) M1684K possibly damaging Het
Dock8 T A 19: 25,178,384 (GRCm39) C2092* probably null Het
Dtx1 T A 5: 120,833,030 (GRCm39) Q136L possibly damaging Het
Egln3 C T 12: 54,249,981 (GRCm39) probably benign Het
Eml5 A T 12: 98,827,504 (GRCm39) Y575* probably null Het
Entpd5 A T 12: 84,431,022 (GRCm39) V310E probably damaging Het
Fkbp5 A G 17: 28,634,946 (GRCm39) F188L probably damaging Het
Frrs1 T C 3: 116,675,431 (GRCm39) S120P probably benign Het
Gadl1 T C 9: 115,903,108 (GRCm39) I479T possibly damaging Het
Gfra2 A T 14: 71,205,725 (GRCm39) M106L probably benign Het
Gm17455 T A 10: 60,239,060 (GRCm39) C108* probably null Het
Hsp90ab1 G A 17: 45,882,449 (GRCm39) R82C probably damaging Het
Igsf10 T C 3: 59,226,905 (GRCm39) Y2256C probably damaging Het
Ivd A T 2: 118,703,384 (GRCm39) I160F probably benign Het
Krtap5-5 A G 7: 141,783,450 (GRCm39) C67R unknown Het
Lhx4 A T 1: 155,580,967 (GRCm39) V186E probably damaging Het
Lrrk2 T C 15: 91,631,958 (GRCm39) I1294T possibly damaging Het
Map3k5 C T 10: 20,007,801 (GRCm39) S1202L probably benign Het
Mdfic T A 6: 15,770,319 (GRCm39) N108K probably damaging Het
Mov10 G A 3: 104,704,623 (GRCm39) R763W probably damaging Het
Mto1 T C 9: 78,356,802 (GRCm39) S106P probably damaging Het
Naca C T 10: 127,876,233 (GRCm39) probably benign Het
Or10j27 A G 1: 172,958,526 (GRCm39) V86A probably benign Het
Or8s10 A G 15: 98,336,127 (GRCm39) Y259C possibly damaging Het
Pan2 T C 10: 128,151,532 (GRCm39) probably benign Het
Pold1 T C 7: 44,190,004 (GRCm39) Y394C probably damaging Het
Sipa1l1 T A 12: 82,388,904 (GRCm39) S377T probably benign Het
Sirpd G T 3: 15,397,283 (GRCm39) probably benign Het
Slc36a3 A G 11: 55,015,946 (GRCm39) S403P probably damaging Het
Slc4a4 A G 5: 89,297,231 (GRCm39) T480A probably damaging Het
Slu7 G A 11: 43,332,883 (GRCm39) V315I probably benign Het
St6galnac3 T C 3: 152,911,115 (GRCm39) E282G probably damaging Het
Tlr12 A G 4: 128,509,685 (GRCm39) V855A probably benign Het
Tut7 T C 13: 59,962,717 (GRCm39) D350G probably benign Het
Vmn1r53 T A 6: 90,200,944 (GRCm39) K127* probably null Het
Vmn1r72 T G 7: 11,403,812 (GRCm39) H212P probably damaging Het
Vmn2r86 T A 10: 130,282,501 (GRCm39) Q705L probably damaging Het
Vps33b C T 7: 79,925,831 (GRCm39) R93C probably damaging Het
Wdr91 T A 6: 34,882,491 (GRCm39) E219D probably benign Het
Zan G A 5: 137,461,762 (GRCm39) T1139I unknown Het
Zc3hav1 T A 6: 38,317,278 (GRCm39) K107N probably damaging Het
Zmym2 A G 14: 57,187,784 (GRCm39) E1150G possibly 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
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
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
Posted On 2016-08-02