Incidental Mutation 'R7420:Selenop'
ID 575630
Institutional Source Beutler Lab
Gene Symbol Selenop
Ensembl Gene ENSMUSG00000064373
Gene Name selenoprotein P
Synonyms Sepp1, Se-P, D15Ucla1, selp
MMRRC Submission 045498-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.287) question?
Stock # R7420 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 3300249-3309992 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3309052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 335 (A335S)
Ref Sequence ENSEMBL: ENSMUSP00000081004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082424] [ENSMUST00000159158] [ENSMUST00000159216] [ENSMUST00000160311] [ENSMUST00000160787] [ENSMUST00000160930] [ENSMUST00000165386] [ENSMUST00000226261] [ENSMUST00000228405]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000082424
AA Change: A335S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081004
Gene: ENSMUSG00000064373
AA Change: A335S

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 benign
Transcript: ENSMUST00000159158
SMART Domains Protein: ENSMUSP00000125632
Gene: ENSMUSG00000064373

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 22 124 5.4e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159216
AA Change: A335S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124305
Gene: ENSMUSG00000064373
AA Change: A335S

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 probably benign
Transcript: ENSMUST00000160311
SMART Domains Protein: ENSMUSP00000124580
Gene: ENSMUSG00000064373

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:SelP_N 32 110 2.1e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160787
SMART Domains Protein: ENSMUSP00000124852
Gene: ENSMUSG00000064373

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 22 139 1.6e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160930
SMART Domains Protein: ENSMUSP00000125505
Gene: ENSMUSG00000064373

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 22 177 1.9e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165386
SMART Domains Protein: ENSMUSP00000129305
Gene: ENSMUSG00000091119

DomainStartEndE-ValueType
coiled coil region 76 186 N/A INTRINSIC
coiled coil region 211 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226261
Predicted Effect probably benign
Transcript: ENSMUST00000228405
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 95% (54/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,141,303 (GRCm39) V6A probably benign Het
Adam29 T A 8: 56,325,933 (GRCm39) M174L probably benign Het
Ano1 G A 7: 144,209,378 (GRCm39) T274I probably benign Het
Atad5 A T 11: 79,986,688 (GRCm39) T592S probably benign Het
Bud13 C T 9: 46,199,113 (GRCm39) P158L probably benign Het
Card19 T C 13: 49,361,613 (GRCm39) Y6C probably damaging Het
Cd36 C G 5: 17,993,272 (GRCm39) V393L probably benign Het
Cd79a A T 7: 24,596,971 (GRCm39) R9* probably null Het
Cep164 T C 9: 45,679,840 (GRCm39) H1131R probably benign Het
Chia1 T A 3: 106,037,980 (GRCm39) S321T probably benign Het
Chrnd T A 1: 87,122,543 (GRCm39) V217E possibly damaging Het
Cmtm7 T C 9: 114,592,462 (GRCm39) probably null Het
Csn1s2a T C 5: 87,927,865 (GRCm39) S60P possibly damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Dnah2 C T 11: 69,369,623 (GRCm39) A1618T possibly damaging Het
Dnah9 A G 11: 66,008,233 (GRCm39) probably null Het
Epn1 A T 7: 5,100,687 (GRCm39) T546S possibly damaging Het
Fam135a A G 1: 24,051,567 (GRCm39) S1443P possibly damaging Het
Fam13b G T 18: 34,627,664 (GRCm39) P179Q probably damaging Het
Git2 T C 5: 114,868,431 (GRCm39) T647A probably benign Het
Gli2 T C 1: 118,763,669 (GRCm39) N1494S probably benign Het
Gm4952 G A 19: 12,604,265 (GRCm39) G226R probably damaging Het
Gm5460 T A 14: 33,758,714 (GRCm39) F156I probably damaging Het
Heatr5b A T 17: 79,115,909 (GRCm39) V849D probably damaging Het
Hepacam A G 9: 37,292,005 (GRCm39) D111G probably benign Het
Hk1 T C 10: 62,105,761 (GRCm39) D895G probably damaging Het
Irag1 A T 7: 110,470,680 (GRCm39) Y678* probably null Het
Kdm5b T C 1: 134,532,235 (GRCm39) V471A probably benign Het
Klhdc8b A G 9: 108,326,317 (GRCm39) Y239H possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krt82 T C 15: 101,454,022 (GRCm39) T229A probably damaging Het
Lrrc37 A T 11: 103,504,451 (GRCm39) S2506T probably benign Het
Lztr1 T C 16: 17,341,993 (GRCm39) L656P probably damaging Het
Mfrp T C 9: 44,013,773 (GRCm39) probably benign Het
Nfe2l1 A G 11: 96,710,739 (GRCm39) S497P probably benign Het
Or2ag1b G A 7: 106,288,227 (GRCm39) A237V possibly damaging Het
Or8b44 G T 9: 38,410,359 (GRCm39) L131F probably benign Het
Otud4 C A 8: 80,390,737 (GRCm39) T418K probably benign Het
Pcdhb21 A G 18: 37,648,256 (GRCm39) N462D probably damaging Het
Plch1 A G 3: 63,630,278 (GRCm39) S497P probably damaging Het
Plekha8 T C 6: 54,590,179 (GRCm39) V48A probably damaging Het
Ppp2r5d A T 17: 46,998,507 (GRCm39) F121L probably null Het
Prxl2c C T 13: 64,445,131 (GRCm39) G164D possibly damaging Het
Sdad1 G A 5: 92,453,596 (GRCm39) A64V possibly damaging Het
Shc3 T C 13: 51,585,271 (GRCm39) N448S probably benign Het
Shcbp1 G A 8: 4,798,737 (GRCm39) T394I probably benign Het
Slc39a11 G T 11: 113,138,648 (GRCm39) A276E probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Speg T A 1: 75,407,549 (GRCm39) S3185R probably damaging Het
Tmem100 A T 11: 89,926,579 (GRCm39) *135Y probably null Het
Ube2o A T 11: 116,430,898 (GRCm39) F1001I probably damaging Het
Usp7 T C 16: 8,527,985 (GRCm39) D148G probably benign Het
Vmn2r16 A G 5: 109,511,736 (GRCm39) T648A probably damaging Het
Vmn2r67 A G 7: 84,785,944 (GRCm39) L687P possibly damaging Het
Zcchc14 ACCGCCGCCGCCGCCGCC ACCGCCGCCGCCGCC 8: 122,378,530 (GRCm39) probably benign Het
Zfp800 A G 6: 28,243,718 (GRCm39) S416P 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
R5107:Selenop UTSW 15 3,305,075 (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
R7673:Selenop UTSW 15 3,304,340 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTTTCACTTGCCCAGAGG -3'
(R):5'- GCAGTCACTTTTCAGGTGCC -3'

Sequencing Primer
(F):5'- TTCACTTGCCCAGAGGAAGCTC -3'
(R):5'- CAGGTGCCCTATTGTACAAATCTG -3'
Posted On 2019-10-07