Mutagenetix > Incidental Mutation

Incidental Mutation 'R6216:Selenop'

503743

Institutional Source

Beutler Lab

Gene Symbol

Selenop

Ensembl Gene

ENSMUSG00000064373

Gene Name

selenoprotein P

Synonyms

Sepp1, Se-P, D15Ucla1, selp

MMRRC Submission

044349-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R6216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3300249-3309992 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3308947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 300 (C300R)

Ref Sequence

ENSEMBL: ENSMUSP00000124305 (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: C300R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081004
Gene: ENSMUSG00000064373
AA Change: C300R

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:SelP_N	22	124	5.4e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159216
AA Change: C300R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124305
Gene: ENSMUSG00000064373
AA Change: C300R

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000160311

SMART Domains

Protein: ENSMUSP00000124580
Gene: ENSMUSG00000064373

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.5%
20x: 98.5%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,164,910 (GRCm39)	D488G	probably benign	Het
Adgrv1	C	A	13: 81,672,590 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alkbh3	G	A	2: 93,838,881 (GRCm39)		probably benign	Het
Ankrd22	A	T	19: 34,101,569 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,096,618 (GRCm39)	D425G	probably damaging	Het
Arid2	A	G	15: 96,254,790 (GRCm39)	D212G	probably benign	Het
Bbx	A	T	16: 50,071,751 (GRCm39)	S225T	probably benign	Het
Bivm	T	A	1: 44,166,028 (GRCm39)		probably null	Het
Bpifb3	A	G	2: 153,767,773 (GRCm39)	Y282C	probably benign	Het
Cacna1h	A	T	17: 25,597,793 (GRCm39)	I1767N	probably damaging	Het
Ccdc28a	G	T	10: 18,100,719 (GRCm39)	S36*	probably null	Het
Ccser2	A	G	14: 36,662,465 (GRCm39)	S240P	probably damaging	Het
Ceacam1	A	T	7: 25,171,421 (GRCm39)	S348T	probably benign	Het
Ddx49	C	T	8: 70,749,934 (GRCm39)	G161D	probably damaging	Het
Dhx16	A	G	17: 36,193,864 (GRCm39)	E353G	possibly damaging	Het
Dnaaf6rt	A	T	1: 31,262,432 (GRCm39)	D138V	probably damaging	Het
Etv2	A	G	7: 30,334,036 (GRCm39)		probably null	Het
Extl1	T	C	4: 134,090,441 (GRCm39)	T345A	probably benign	Het
Fam163a	A	T	1: 155,954,741 (GRCm39)	S137T	probably benign	Het
Fermt2	A	T	14: 45,697,338 (GRCm39)	M671K	possibly damaging	Het
Fsd1l	T	C	4: 53,694,742 (GRCm39)	C388R	probably damaging	Het
Galnt18	A	C	7: 111,112,757 (GRCm39)	V470G	probably benign	Het
Grin2b	T	A	6: 135,749,397 (GRCm39)	I602F	probably damaging	Het
Gucy1b1	G	T	3: 81,954,020 (GRCm39)		probably null	Het
Hace1	T	C	10: 45,494,643 (GRCm39)	V151A	probably benign	Het
Hadhb	T	A	5: 30,379,929 (GRCm39)	D258E	probably benign	Het
Heatr1	C	T	13: 12,447,545 (GRCm39)	T1746I	probably benign	Het
Hrnr	T	C	3: 93,239,469 (GRCm39)	S3236P	unknown	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Kiz	C	A	2: 146,731,417 (GRCm39)	D302E	probably damaging	Het
Kng2	A	T	16: 22,806,343 (GRCm39)	W619R	probably damaging	Het
Mfap3l	C	A	8: 61,124,841 (GRCm39)	T361K	probably damaging	Het
Mlec	T	C	5: 115,288,376 (GRCm39)	H160R	probably benign	Het
Myo16	T	C	8: 10,365,494 (GRCm39)	L89P	probably benign	Het
Neb	T	C	2: 52,114,564 (GRCm39)	I4232V	probably benign	Het
Nf1	A	G	11: 79,302,433 (GRCm39)	I334V	possibly damaging	Het
Nipbl	A	C	15: 8,347,867 (GRCm39)	F1942V	probably damaging	Het
Or2ag17	A	T	7: 106,389,665 (GRCm39)	I181N	probably benign	Het
Or4a70	C	A	2: 89,324,066 (GRCm39)	V197F	probably damaging	Het
Or4c11c	T	C	2: 88,661,655 (GRCm39)	S65P	probably damaging	Het
Or51a10	A	G	7: 103,698,902 (GRCm39)	Y220H	probably damaging	Het
Pabpc2	G	T	18: 39,907,772 (GRCm39)	A346S	probably damaging	Het
Paxip1	T	C	5: 27,971,171 (GRCm39)	T393A	unknown	Het
Pcdhgb5	A	T	18: 37,864,981 (GRCm39)	T259S	probably benign	Het
Pfkp	A	T	13: 6,669,224 (GRCm39)	L253H	probably benign	Het
Piezo1	T	C	8: 123,215,869 (GRCm39)	D1428G	probably benign	Het
Pkd1l2	T	G	8: 117,808,209 (GRCm39)	D105A	probably damaging	Het
Pou2f1	G	T	1: 165,707,889 (GRCm39)		probably benign	Het
Ppfia4	T	C	1: 134,256,921 (GRCm39)	E100G	probably damaging	Het
Ppp1r15a	G	T	7: 45,173,446 (GRCm39)	T454K	probably damaging	Het
Prpsap1	A	T	11: 116,362,239 (GRCm39)	I381N	probably damaging	Het
Ptx3	T	A	3: 66,132,265 (GRCm39)	V262E	probably damaging	Het
Rab21	A	T	10: 115,130,831 (GRCm39)	H158Q	probably benign	Het
Rasa2	A	G	9: 96,426,357 (GRCm39)	S830P	probably damaging	Het
Rdh1	G	A	10: 127,600,622 (GRCm39)	S215N	probably benign	Het
Rhot1	G	A	11: 80,141,885 (GRCm39)	R463H	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Selenom	A	T	11: 3,464,915 (GRCm39)		probably benign	Het
Skint1	T	A	4: 111,878,679 (GRCm39)	S204T	probably benign	Het
Ss18l1	A	G	2: 179,703,706 (GRCm39)	N313S	unknown	Het
Sycp2l	A	G	13: 41,295,200 (GRCm39)	D289G	probably damaging	Het
Terf1	C	T	1: 15,889,221 (GRCm39)	H188Y	probably benign	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Trdn	A	G	10: 33,181,065 (GRCm39)	T357A	probably damaging	Het
Trip11	A	C	12: 101,856,859 (GRCm39)	M401R	probably benign	Het
Ubald2	A	C	11: 116,325,211 (GRCm39)	D26A	probably benign	Het
Ube2w	C	G	1: 16,689,508 (GRCm39)		probably benign	Het
Vmn2r101	T	A	17: 19,811,267 (GRCm39)	S450R	probably benign	Het

Other mutations in Selenop

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCATCTTGGCAGCAGTAAGC -3'
(R):5'- ATTATCTCAGCTTCAGTTGGGG -3'

Sequencing Primer
(F):5'- GCAGTAAGCCTTCAGAGAATCAGC -3'
(R):5'- CAGCTTCAGTTGGGGTTGGC -3'

Posted On

2018-02-27