Incidental Mutation 'IGL02553:Spr'
ID298582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spr
Ensembl Gene ENSMUSG00000033735
Gene Namesepiapterin reductase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02553
Quality Score
Status
Chromosome6
Chromosomal Location85130176-85137766 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85137448 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 100 (N100D)
Ref Sequence ENSEMBL: ENSMUSP00000134379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045986] [ENSMUST00000174286] [ENSMUST00000174769] [ENSMUST00000204757]
Predicted Effect probably damaging
Transcript: ENSMUST00000045986
AA Change: N100D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048111
Gene: ENSMUSG00000033735
AA Change: N100D

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 damaging
Transcript: ENSMUST00000174286
AA Change: N100D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133859
Gene: ENSMUSG00000033735
AA Change: N100D

DomainStartEndE-ValueType
Pfam:adh_short 9 119 7.2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174769
AA Change: N100D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134379
Gene: ENSMUSG00000033735
AA Change: N100D

DomainStartEndE-ValueType
Pfam:KR 9 94 8.6e-7 PFAM
Pfam:adh_short 9 111 4e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204757
AA Change: N100D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145412
Gene: ENSMUSG00000033735
AA Change: N100D

DomainStartEndE-ValueType
Pfam:adh_short 9 215 5.3e-28 PFAM
Coding Region Coverage
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,351,924 S1326P probably damaging Het
Alpk1 A T 3: 127,673,321 L1103Q probably damaging Het
Arhgap11a A C 2: 113,837,561 probably benign Het
Arl6ip6 A G 2: 53,192,214 Y31C possibly damaging Het
Arpin G T 7: 79,927,647 D217E possibly damaging Het
Atp13a4 C T 16: 29,422,703 V735I probably benign Het
Ccdc146 A T 5: 21,297,633 F753L probably benign Het
Cdh3 T A 8: 106,544,248 L511* probably null Het
Chrna1 A T 2: 73,566,862 I361N possibly damaging Het
Clk2 G A 3: 89,175,713 R432H probably damaging Het
Col9a1 T C 1: 24,221,937 probably benign Het
Cstf1 G T 2: 172,377,854 R295L probably benign Het
Dsg2 A G 18: 20,592,410 D526G probably damaging Het
Dsg4 T A 18: 20,462,520 H593Q probably benign Het
Dysf T C 6: 84,130,127 Y1171H possibly damaging Het
Erbb4 A G 1: 68,305,864 L566P probably benign Het
Fam185a T A 5: 21,455,831 D281E probably damaging Het
Fam185a T A 5: 21,429,841 probably benign Het
Fam91a1 T A 15: 58,432,982 probably null Het
Fat2 A G 11: 55,311,283 W322R probably damaging Het
Fbxw8 T A 5: 118,066,060 probably benign Het
Ganc A G 2: 120,458,134 T874A probably benign Het
Gm3543 T C 14: 41,980,091 I145M probably benign Het
Gtf2i G A 5: 134,245,161 T712I probably damaging Het
Hk1 A G 10: 62,295,773 S268P possibly damaging Het
Hmcn1 A G 1: 150,993,023 V10A probably benign Het
Hsd17b4 C T 18: 50,162,097 probably benign Het
Ighv1-75 A T 12: 115,834,105 W66R probably damaging Het
Kif21b G T 1: 136,154,121 D636Y probably damaging Het
Kif5b A T 18: 6,220,914 I398N probably benign Het
Metap2 T C 10: 93,865,449 M165V probably damaging Het
Mterf2 A C 10: 85,120,467 L98V probably damaging Het
Muc16 A G 9: 18,498,553 probably null Het
Myo3b A G 2: 70,095,224 M12V probably benign Het
Nat10 C A 2: 103,752,668 R136I probably damaging Het
Nsd2 T G 5: 33,846,198 S231A probably damaging Het
Olfr1243 T C 2: 89,527,931 T160A probably benign Het
Olfr1281 A T 2: 111,328,988 M190L probably benign Het
Pcdhb14 T A 18: 37,448,018 L59* probably null Het
Pias4 A G 10: 81,163,787 L144P probably damaging Het
Plxna2 T A 1: 194,751,438 N598K probably benign Het
Polq A G 16: 37,041,768 Y550C probably damaging Het
Pot1b T A 17: 55,695,024 probably benign Het
Proz T C 8: 13,065,260 V92A probably benign Het
Rab4a T C 8: 123,823,822 F14L probably benign Het
Riok3 T A 18: 12,143,016 C256* probably null Het
Slc6a1 T A 6: 114,302,490 probably benign Het
Socs5 C T 17: 87,134,991 T453M probably damaging Het
Spata3 T C 1: 86,024,489 L135P probably damaging Het
Spata46 A G 1: 170,311,965 K178E probably damaging Het
Srrm4 C T 5: 116,444,565 probably benign Het
Stard3 T C 11: 98,376,563 F169S possibly damaging Het
Tbx1 T A 16: 18,584,097 D222V probably damaging Het
Trbv23 C T 6: 41,216,345 Q56* probably null Het
Tsc22d1 A G 14: 76,417,398 N357S possibly damaging Het
Ugt1a6a C T 1: 88,139,089 P206S probably benign Het
Utp20 A G 10: 88,764,795 V19A probably damaging Het
Vps13b A G 15: 35,646,301 N1517S probably benign Het
Washc2 T C 6: 116,241,610 I672T probably damaging Het
Other mutations in Spr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Spr APN 6 85134240 missense possibly damaging 0.93
R6458:Spr UTSW 6 85137057 splice site probably null
R6520:Spr UTSW 6 85137492 missense probably benign 0.05
Posted On2015-04-16