Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Dio2'

587224

Institutional Source

Beutler Lab

Gene Symbol

Dio2

Ensembl Gene

ENSMUSG00000007682

Gene Name

deiodinase, iodothyronine, type II

Synonyms

MMRRC Submission

045712-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90691326-90705812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90696334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 218 (V218A)

Ref Sequence

ENSEMBL: ENSMUSP00000081013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082432]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000082432
AA Change: V218A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000081013
Gene: ENSMUSG00000007682
AA Change: V218A

Domain	Start	End	E-Value	Type
Pfam:T4_deiodinase	4	259	1.6e-119	PFAM
Pfam:AhpC-TSA	78	237	1.2e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by outer ring 5'-deiodination. This gene is highly expressed in brain, placenta and mammary gland. It is thought to be responsible for the 'local' production of T3, and thus important in influencing thyroid hormone action in these tissues. Knockout studies in mice suggest that this gene may play an important role in brown adipose tissue lipogenesis, auditory function, and bone formation. This protein is a selenoprotein containing the rare selenocysteine (Sec) amino acid at its active site, and may contain additional Sec residues. 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. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display elevated thyroxine (T4) and thyroid-stimulating hormone levels, changes in the metabolism and excretion of iodothyronines, and impaired adaptive thermogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,585,736 (GRCm39)	T131A	probably damaging	Het
Asah1	A	T	8: 41,827,578 (GRCm39)	V15D	probably benign	Het
Asic1	A	C	15: 99,593,471 (GRCm39)	Q276P	probably damaging	Het
Atl2	A	T	17: 80,172,496 (GRCm39)	V158E	probably benign	Het
Atrn	T	A	2: 130,822,034 (GRCm39)	I909N	probably damaging	Het
BC034090	A	G	1: 155,093,232 (GRCm39)	V742A	probably damaging	Het
Capzb	T	A	4: 138,989,334 (GRCm39)	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,869,004 (GRCm39)	F165S	probably damaging	Het
Cfap44	A	G	16: 44,224,469 (GRCm39)	E59G	probably benign	Het
Clpsl2	G	A	17: 28,768,515 (GRCm39)	V10I	probably benign	Het
D630003M21Rik	T	A	2: 158,042,976 (GRCm39)	S855C	probably damaging	Het
D630003M21Rik	T	C	2: 158,038,308 (GRCm39)	Y1046C	probably benign	Het
D6Wsu163e	A	G	6: 126,932,859 (GRCm39)	I361V	probably benign	Het
Dchs2	A	G	3: 83,211,822 (GRCm39)	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,460,069 (GRCm39)	K679Q	probably damaging	Het
Gpr107	A	T	2: 31,058,838 (GRCm39)	K109N	probably benign	Het
Gpr108	C	T	17: 57,543,732 (GRCm39)	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,681,288 (GRCm39)	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,512,065 (GRCm39)	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,930,080 (GRCm39)		probably null	Het
Lipc	A	G	9: 70,726,206 (GRCm39)	Y168H	probably damaging	Het
Lipi	C	T	16: 75,347,103 (GRCm39)	V439M	probably benign	Het
Lpp	A	T	16: 24,581,029 (GRCm39)		probably null	Het
Lrp1b	T	G	2: 40,620,729 (GRCm39)	D3583A		Het
Ltbr	T	C	6: 125,289,315 (GRCm39)	T165A	probably benign	Het
Mroh3	A	G	1: 136,118,736 (GRCm39)	I527T	probably benign	Het
Mylk	A	G	16: 34,742,887 (GRCm39)	E1133G	probably benign	Het
Nat3	T	C	8: 68,000,226 (GRCm39)	I35T	probably damaging	Het
Ncbp3	T	C	11: 72,957,591 (GRCm39)		probably null	Het
Nedd1	G	A	10: 92,534,592 (GRCm39)	T306M	probably benign	Het
Nexn	T	C	3: 151,952,815 (GRCm39)	R316G	probably benign	Het
Nox4	A	G	7: 86,966,510 (GRCm39)	H207R	probably damaging	Het
Nsun6	T	C	2: 15,044,636 (GRCm39)	Q110R	probably benign	Het
Or1e1b-ps1	C	T	11: 73,846,010 (GRCm39)	Q165*	probably null	Het
Or52n2c	C	T	7: 104,574,263 (GRCm39)	R236H	probably benign	Het
Or7g32	T	A	9: 19,408,818 (GRCm39)	V258E	probably damaging	Het
Pappa2	T	C	1: 158,678,701 (GRCm39)	D905G	probably damaging	Het
Pepd	T	C	7: 34,668,965 (GRCm39)	L195S	probably damaging	Het
Pms1	A	G	1: 53,246,475 (GRCm39)	S355P	probably benign	Het
Pop1	A	T	15: 34,502,559 (GRCm39)	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 94,892,766 (GRCm39)	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,845,777 (GRCm39)		probably null	Het
Pramel57	A	G	5: 95,669,270 (GRCm39)	T100A	probably damaging	Het
Prss35	T	A	9: 86,637,427 (GRCm39)	C66S	probably damaging	Het
Rfc3	A	T	5: 151,574,616 (GRCm39)	M1K	probably null	Het
Rffl	T	C	11: 82,700,974 (GRCm39)	D284G	probably damaging	Het
Robo3	T	C	9: 37,340,942 (GRCm39)	D110G	probably damaging	Het
Rtel1	G	A	2: 180,964,108 (GRCm39)	V36M	probably damaging	Het
Slc1a7	T	A	4: 107,867,683 (GRCm39)	I457K	possibly damaging	Het
Smco1	A	G	16: 32,092,541 (GRCm39)	M71V	probably benign	Het
Snrnp200	G	A	2: 127,069,822 (GRCm39)	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,305 (GRCm39)	I356F	probably damaging	Het
Stk24	C	T	14: 121,539,699 (GRCm39)	A166T	probably damaging	Het
Tada2b	T	C	5: 36,634,111 (GRCm39)	I156V	probably benign	Het
Tasor2	T	C	13: 3,618,849 (GRCm39)	K2251E	possibly damaging	Het
Tbce	C	T	13: 14,194,327 (GRCm39)	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,532,155 (GRCm39)	L92P	probably damaging	Het
Tnr	T	A	1: 159,713,778 (GRCm39)	D735E	probably benign	Het
Tram1	T	C	1: 13,649,771 (GRCm39)	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Unc5b	C	T	10: 60,618,899 (GRCm39)	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,681,153 (GRCm39)	T1041M	probably benign	Het

Other mutations in Dio2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02665:Dio2	APN	12	90,696,427 (GRCm39)	missense	possibly damaging	0.87
IGL02832:Dio2	APN	12	90,696,178 (GRCm39)	utr 3 prime	probably benign
R0139:Dio2	UTSW	12	90,696,617 (GRCm39)	missense	probably damaging	1.00
R0620:Dio2	UTSW	12	90,704,845 (GRCm39)	missense	probably benign	0.24
R0908:Dio2	UTSW	12	90,696,422 (GRCm39)	missense	probably damaging	1.00
R1106:Dio2	UTSW	12	90,704,985 (GRCm39)	missense	probably damaging	1.00
R1799:Dio2	UTSW	12	90,696,680 (GRCm39)	missense	probably benign	0.00
R2099:Dio2	UTSW	12	90,696,597 (GRCm39)	makesense	probably null
R2101:Dio2	UTSW	12	90,696,597 (GRCm39)	makesense	probably null
R4615:Dio2	UTSW	12	90,696,595 (GRCm39)	missense	probably damaging	1.00
R6560:Dio2	UTSW	12	90,696,607 (GRCm39)	nonsense	probably null
R6960:Dio2	UTSW	12	90,696,671 (GRCm39)	missense	probably damaging	0.97
R9367:Dio2	UTSW	12	90,696,587 (GRCm39)	missense	probably benign	0.07
Z1177:Dio2	UTSW	12	90,696,686 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCGGTGAGGCAATGGGATTC -3'
(R):5'- GGTATACATTGATGAGGCTCACC -3'

Sequencing Primer
(F):5'- ATAGATTCAGTTCAGTTCTCAACTTC -3'
(R):5'- ATTGATGAGGCTCACCCTTCGG -3'

Posted On

2019-10-24