Incidental Mutation 'R5107:Selenop'
ID 393623
Institutional Source Beutler Lab
Gene Symbol Selenop
Ensembl Gene ENSMUSG00000064373
Gene Name selenoprotein P
Synonyms Sepp1, Se-P, D15Ucla1, selp
MMRRC Submission 042695-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.287) question?
Stock # R5107 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 3300249-3309992 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3305075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 77 (E77G)
Ref Sequence ENSEMBL: ENSMUSP00000125632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082424] [ENSMUST00000159158] [ENSMUST00000159216] [ENSMUST00000160311] [ENSMUST00000160787] [ENSMUST00000160930] [ENSMUST00000226261]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000082424
AA Change: E77G

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000081004
Gene: ENSMUSG00000064373
AA Change: E77G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 22 248 5.4e-119 PFAM
Pfam:SelP_C 249 380 2.6e-78 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159158
AA Change: E77G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125632
Gene: ENSMUSG00000064373
AA Change: E77G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 22 124 5.4e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159216
AA Change: E77G

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124305
Gene: ENSMUSG00000064373
AA Change: E77G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 23 268 9.3e-108 PFAM
Pfam:SelP_C 249 380 4.9e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159247
Predicted Effect probably damaging
Transcript: ENSMUST00000160311
AA Change: E87G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124580
Gene: ENSMUSG00000064373
AA Change: E87G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:SelP_N 32 110 2.1e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160787
AA Change: E77G

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124852
Gene: ENSMUSG00000064373
AA Change: E77G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 22 139 1.6e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160930
AA Change: E77G

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125505
Gene: ENSMUSG00000064373
AA Change: E77G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 22 177 1.9e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226261
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: This gene encodes a selenoprotein that is predominantly expressed in the liver and secreted into the plasma. This selenoprotein is unique in that it contains multiple selenocysteine (Sec) residues per polypeptide (10 in mouse), and accounts for most of the selenium in plasma. It has been implicated as an extracellular antioxidant, and in the transport of selenium to extra-hepatic tissues via apolipoprotein E receptor-2 (apoER2). Mice lacking this gene exhibit neurological dysfunction, suggesting its importance in normal brain function. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The mRNA for this selenoprotein contains two SECIS elements. Alternatively spliced transcript variants differing in 5' non-coding region have been described for this gene. Expression of these variants varies in different tissues and developmental stages (PMID:23064117). [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygotes for targeted null mutations exhibit ataxia, spasticity, impaired growth, reduced male fertility, and excess mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,472 (GRCm39) N85S possibly damaging Het
Adgre1 A G 17: 57,708,977 (GRCm39) Y56C possibly damaging Het
Agbl5 C A 5: 31,049,822 (GRCm39) P257Q probably damaging Het
Angptl2 A T 2: 33,118,615 (GRCm39) M130L probably damaging Het
Atp6v1f T A 6: 29,468,198 (GRCm39) probably null Het
Ccdc78 G A 17: 26,006,454 (GRCm39) V133M possibly damaging Het
Clpx A G 9: 65,215,821 (GRCm39) K145E possibly damaging Het
Col18a1 T C 10: 76,913,057 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Igkv4-54 T C 6: 69,608,914 (GRCm39) I24V possibly damaging Het
Ikzf3 A G 11: 98,381,302 (GRCm39) Y93H probably damaging Het
Isl2 T C 9: 55,449,570 (GRCm39) V82A probably benign Het
Kcnq2 A T 2: 180,750,340 (GRCm39) probably benign Het
Krt4 A T 15: 101,831,226 (GRCm39) M225K possibly damaging Het
Ksr2 T C 5: 117,827,673 (GRCm39) V484A probably benign Het
Lrba T A 3: 86,267,086 (GRCm39) V1592E possibly damaging Het
Lrrc7 G A 3: 157,867,533 (GRCm39) P736L probably damaging Het
Mettl8 A T 2: 70,795,901 (GRCm39) F376I probably damaging Het
Muc5b T A 7: 141,409,268 (GRCm39) H1117Q unknown Het
Myh7 T A 14: 55,223,881 (GRCm39) probably benign Het
Myod1 G T 7: 46,027,218 (GRCm39) A228S probably benign Het
Ntrk1 T C 3: 87,702,280 (GRCm39) T58A probably benign Het
Or12d17 A G 17: 37,777,144 (GRCm39) T16A probably damaging Het
Pdcd11 T A 19: 47,094,893 (GRCm39) V559E probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Phf3 A G 1: 30,870,566 (GRCm39) S161P probably benign Het
Pias1 C A 9: 62,789,510 (GRCm39) A566S probably benign Het
Pik3c2g T C 6: 139,612,623 (GRCm39) probably benign Het
Pmp22 A G 11: 63,049,237 (GRCm39) E160G probably damaging Het
Polb T C 8: 23,135,062 (GRCm39) probably null Het
Prob1 T C 18: 35,785,989 (GRCm39) N755S possibly damaging Het
Rhou A T 8: 124,387,912 (GRCm39) K215* probably null Het
Scaper A G 9: 55,487,616 (GRCm39) S749P probably damaging Het
Sema3a C A 5: 13,627,572 (GRCm39) S490* probably null Het
Slc26a2 A G 18: 61,331,632 (GRCm39) Y600H probably damaging Het
Slfn8 A C 11: 82,907,976 (GRCm39) I189S probably damaging Het
Stab1 T A 14: 30,885,752 (GRCm39) probably null Het
Tbc1d13 G A 2: 30,036,733 (GRCm39) E205K probably damaging Het
Tex47 C T 5: 7,354,842 (GRCm39) R8W probably benign Het
Tmem198b T C 10: 128,638,156 (GRCm39) T136A probably benign Het
Trim36 T C 18: 46,305,705 (GRCm39) Q414R probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Ttn A G 2: 76,608,496 (GRCm39) I16063T probably damaging Het
Ttn A G 2: 76,693,905 (GRCm39) V321A possibly damaging Het
Ubox5 A G 2: 130,441,688 (GRCm39) L333P probably damaging Het
Vmn2r19 T A 6: 123,286,602 (GRCm39) Y78* probably null Het
Wnk4 A G 11: 101,166,364 (GRCm39) probably benign Het
Xirp2 A G 2: 67,340,054 (GRCm39) D765G probably damaging Het
Xirp2 G T 2: 67,342,205 (GRCm39) G1482V probably damaging Het
Znhit1 A G 5: 137,015,682 (GRCm39) V2A probably benign Het
Other mutations in Selenop
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01450:Selenop APN 15 3,306,755 (GRCm39) missense probably benign 0.20
IGL01937:Selenop APN 15 3,308,750 (GRCm39) missense probably benign 0.37
IGL03280:Selenop APN 15 3,310,104 (GRCm39) unclassified probably benign
R0508:Selenop UTSW 15 3,305,202 (GRCm39) missense probably benign 0.02
R0603:Selenop UTSW 15 3,305,183 (GRCm39) missense probably damaging 1.00
R1567:Selenop UTSW 15 3,309,180 (GRCm39) makesense probably null
R1982:Selenop UTSW 15 3,305,176 (GRCm39) missense probably damaging 1.00
R6216:Selenop UTSW 15 3,308,947 (GRCm39) missense probably damaging 1.00
R6245:Selenop UTSW 15 3,304,216 (GRCm39) missense probably damaging 1.00
R7420:Selenop UTSW 15 3,309,052 (GRCm39) missense probably damaging 0.96
R7673:Selenop UTSW 15 3,304,340 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCATGTTCATGCAAACATTTAGC -3'
(R):5'- GCTCACCTGTCATAGATGAGGAAG -3'

Sequencing Primer
(F):5'- TGCAAACATTTAGCATTGTTTCAAG -3'
(R):5'- GGAAGTCATCTTTGTTTCCATTTAAG -3'
Posted On 2016-06-15