Incidental Mutation 'R6458:Spr'
ID 517429
Institutional Source Beutler Lab
Gene Symbol Spr
Ensembl Gene ENSMUSG00000033735
Gene Name sepiapterin reductase
Synonyms
MMRRC Submission 044593-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6458 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 85110662-85114746 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 85114039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045986] [ENSMUST00000174286] [ENSMUST00000174769] [ENSMUST00000204757]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045986
AA Change: N122D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000048111
Gene: ENSMUSG00000033735
AA Change: N122D

DomainStartEndE-ValueType
Pfam:adh_short 9 189 1e-22 PFAM
Pfam:KR 9 204 1.6e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126708
Predicted Effect probably null
Transcript: ENSMUST00000174286
SMART Domains Protein: ENSMUSP00000133859
Gene: ENSMUSG00000033735

DomainStartEndE-ValueType
Pfam:adh_short 9 119 7.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174769
SMART Domains Protein: ENSMUSP00000134379
Gene: ENSMUSG00000033735

DomainStartEndE-ValueType
Pfam:KR 9 94 8.6e-7 PFAM
Pfam:adh_short 9 111 4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204757
AA Change: N122D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000145412
Gene: ENSMUSG00000033735
AA Change: N122D

DomainStartEndE-ValueType
Pfam:adh_short 9 215 5.3e-28 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.3%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit premature death, severe growth retardation, dwarfism, decreased levels of insulin-like growth factor 1, dopamine, serotonine, noradrenaline, biopterin, and neopterin, abnormal voluntary movement, and elevated phenylalanine levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 A G 2: 164,646,655 (GRCm39) V28A possibly damaging Het
Ak1 T A 2: 32,520,385 (GRCm39) M61K probably damaging Het
Akap12 T C 10: 4,305,148 (GRCm39) S653P probably damaging Het
Anapc4 G A 5: 53,021,895 (GRCm39) R659H possibly damaging Het
Arel1 T C 12: 84,987,159 (GRCm39) N86D possibly damaging Het
Bco1 A G 8: 117,854,245 (GRCm39) D390G possibly damaging Het
Ccr1l1 A T 9: 123,778,203 (GRCm39) D81E probably damaging Het
Chd1 A T 17: 15,950,864 (GRCm39) N185I probably benign Het
Clca4b T G 3: 144,617,088 (GRCm39) N854T possibly damaging Het
Col4a4 T C 1: 82,433,546 (GRCm39) T1466A unknown Het
Cxcr4 T C 1: 128,516,831 (GRCm39) I277V probably benign Het
Dgkq A G 5: 108,802,242 (GRCm39) V441A possibly damaging Het
Dnah10 G T 5: 124,886,333 (GRCm39) L3030F probably damaging Het
Epg5 T A 18: 77,991,469 (GRCm39) D55E probably benign Het
Ermap A T 4: 119,035,337 (GRCm39) N550K probably damaging Het
Fnbp1l A T 3: 122,350,089 (GRCm39) I374N probably damaging Het
Gadl1 T A 9: 115,870,070 (GRCm39) *479K probably null Het
Gm5591 T A 7: 38,218,459 (GRCm39) T805S probably damaging Het
H2-T3 A T 17: 36,497,911 (GRCm39) M334K possibly damaging Het
Ihh C T 1: 74,985,601 (GRCm39) A295T probably damaging Het
Il18r1 T A 1: 40,530,342 (GRCm39) Y356* probably null Het
Lingo3 A G 10: 80,671,150 (GRCm39) V260A probably damaging Het
Lrp2 T G 2: 69,335,500 (GRCm39) M1408L probably benign Het
Mical1 C A 10: 41,360,731 (GRCm39) H657N probably benign Het
Mpp2 T A 11: 101,971,595 (GRCm39) M12L probably benign Het
Muc16 A T 9: 18,553,017 (GRCm39) D4425E probably benign Het
Muc4 T A 16: 32,579,694 (GRCm39) probably null Het
Myt1l T A 12: 29,945,298 (GRCm39) F1021Y unknown Het
Nbas T C 12: 13,338,750 (GRCm39) S197P probably damaging Het
Nckap1 T C 2: 80,342,893 (GRCm39) probably null Het
Nek1 T G 8: 61,553,046 (GRCm39) V903G probably benign Het
Or14c43 A G 7: 86,114,888 (GRCm39) I90V probably damaging Het
Or1e18-ps1 T G 11: 73,279,517 (GRCm39) S112R probably damaging Het
Or4p22 T A 2: 88,317,562 (GRCm39) I162N possibly damaging Het
Or8b40 T C 9: 38,027,350 (GRCm39) V91A possibly damaging Het
Ppm1j T C 3: 104,688,560 (GRCm39) V53A probably benign Het
Ralgapb T A 2: 158,286,540 (GRCm39) D328E probably damaging Het
Rgma T A 7: 73,059,442 (GRCm39) V88E probably damaging Het
Slc30a6 A G 17: 74,730,108 (GRCm39) T333A probably damaging Het
Srek1 A T 13: 103,880,076 (GRCm39) V494E probably benign Het
Ston1 A T 17: 88,942,731 (GRCm39) T46S probably benign Het
Stox2 T C 8: 47,645,079 (GRCm39) K858E possibly damaging Het
Thoc1 G A 18: 9,993,333 (GRCm39) R564Q probably benign Het
Thoc2l A T 5: 104,670,169 (GRCm39) I1564L probably benign Het
Tmc5 T A 7: 118,244,539 (GRCm39) N472K probably damaging Het
Ttc41 A G 10: 86,594,134 (GRCm39) T856A possibly damaging Het
Ttn A T 2: 76,608,854 (GRCm39) W17721R probably damaging Het
Vmn1r69 A G 7: 10,314,365 (GRCm39) I43T probably benign Het
Vmn2r56 T A 7: 12,427,984 (GRCm39) I761F probably damaging Het
Zfp109 T C 7: 23,927,870 (GRCm39) D521G probably benign Het
Zfp516 A G 18: 83,005,475 (GRCm39) H793R probably benign Het
Zfp800 A T 6: 28,244,215 (GRCm39) I250N probably damaging Het
Zpbp T A 11: 11,358,538 (GRCm39) Y243F probably damaging Het
Other mutations in Spr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Spr APN 6 85,111,222 (GRCm39) missense possibly damaging 0.93
IGL02553:Spr APN 6 85,114,430 (GRCm39) missense probably damaging 1.00
R6520:Spr UTSW 6 85,114,474 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AGGACCTGGTAGAGCATGTCTC -3'
(R):5'- GCGGATGTGTGAGTCAAGAC -3'

Sequencing Primer
(F):5'- TAGAGCATGTCTCGGGCAG -3'
(R):5'- TGCCCCAGTTGTGTCAT -3'
Posted On 2018-05-21