Mutagenetix > Incidental Mutation

Incidental Mutation 'R8343:Txnrd2'

645047

Institutional Source

Beutler Lab

Gene Symbol

Txnrd2

Ensembl Gene

ENSMUSG00000075704

Gene Name

thioredoxin reductase 2

Synonyms

ESTM573010, TGR, TR beta, TR3

MMRRC Submission

067866-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8343 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18245167-18297823 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18245291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 33 (A33T)

Ref Sequence

ENSEMBL: ENSMUSP00000111269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000335] [ENSMUST00000115604] [ENSMUST00000115605] [ENSMUST00000115606] [ENSMUST00000115609] [ENSMUST00000126778] [ENSMUST00000144233] [ENSMUST00000177856] [ENSMUST00000178093] [ENSMUST00000205679] [ENSMUST00000206151] [ENSMUST00000206606]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000000335

SMART Domains

Protein: ENSMUSP00000000335
Gene: ENSMUSG00000000326

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Methyltransf_3	63	224	3.5e-24	PFAM
Pfam:Methyltransf_26	102	224	3.3e-9	PFAM
Pfam:Methyltransf_24	106	214	1.2e-13	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000115604
AA Change: A33T

SMART Domains

Protein: ENSMUSP00000111267
Gene: ENSMUSG00000075704
AA Change: A33T

Domain	Start	End	E-Value	Type
low complexity region	8	36	N/A	INTRINSIC
Pfam:FAD_binding_2	41	95	9.7e-9	PFAM
Pfam:GIDA	41	200	2.5e-6	PFAM
Pfam:Pyr_redox_2	41	323	7.8e-29	PFAM
Pfam:Pyr_redox_3	43	253	4.1e-9	PFAM
Pfam:Pyr_redox	220	302	4.9e-15	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000111268
Gene: ENSMUSG00000075704
AA Change: A33T

Domain	Start	End	E-Value	Type
low complexity region	8	36	N/A	INTRINSIC
Pfam:FAD_binding_2	41	95	8.4e-7	PFAM
Pfam:GIDA	41	208	1.8e-4	PFAM
Pfam:Pyr_redox_2	41	365	1.2e-39	PFAM
Pfam:Pyr_redox_3	43	253	8.2e-7	PFAM
Pfam:Pyr_redox	220	302	5.7e-13	PFAM
Pfam:Pyr_redox_dim	388	477	3.5e-17	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000115606
AA Change: A33T

SMART Domains

Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704
AA Change: A33T

Domain	Start	End	E-Value	Type
low complexity region	8	36	N/A	INTRINSIC
Pfam:Pyr_redox_2	40	375	2.4e-71	PFAM
Pfam:FAD_binding_2	41	90	2.9e-8	PFAM
Pfam:Pyr_redox	220	299	2.1e-15	PFAM
Pfam:Pyr_redox_dim	395	508	7.6e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115609

SMART Domains

Protein: ENSMUSP00000111272
Gene: ENSMUSG00000000326

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Methyltransf_3	63	224	3.5e-24	PFAM
Pfam:Methyltransf_26	102	224	3.3e-9	PFAM
Pfam:Methyltransf_24	106	214	1.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126778

Predicted Effect

probably benign
Transcript: ENSMUST00000144233

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177856
AA Change: A30T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704
AA Change: A30T

Domain	Start	End	E-Value	Type
low complexity region	8	36	N/A	INTRINSIC
Pfam:FAD_binding_2	41	95	1.3e-8	PFAM
Pfam:GIDA	41	240	6.2e-7	PFAM
Pfam:Pyr_redox_2	41	365	3.9e-38	PFAM
Pfam:Pyr_redox	226	302	1.3e-10	PFAM
Pfam:Pyr_redox_dim	395	508	1.2e-30	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000178093
AA Change: A30T

SMART Domains

Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704
AA Change: A30T

Domain	Start	End	E-Value	Type
low complexity region	8	36	N/A	INTRINSIC
Pfam:FAD_binding_2	41	95	9e-7	PFAM
Pfam:GIDA	41	201	1.9e-4	PFAM
Pfam:Pyr_redox_2	41	365	2.3e-36	PFAM
Pfam:Pyr_redox	226	302	1.2e-8	PFAM
Pfam:Pyr_redox_dim	388	477	3.5e-17	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000205679
AA Change: A33T

Predicted Effect

unknown
Transcript: ENSMUST00000206151
AA Change: A33T

Predicted Effect

unknown
Transcript: ENSMUST00000206606
AA Change: A33T

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (64/66)

MGI Phenotype

FUNCTION: This gene product belongs to the family of pyridine nucleotide-disulfide oxidoreductases. It is a mitochondrial enzyme that catalyzes the reduction of thioredoxin, and is implicated in the defense against oxidative stress. This protein contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die at E13 due to severe anemia and growth retardation, resulting from perturbed cardiac development and augmented apoptosis of hematopoietic cells. [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
Aars1	T	A	8: 111,767,361 (GRCm39)	W156R	probably damaging	Het
Acvr1	T	A	2: 58,364,286 (GRCm39)		probably null	Het
Adamts2	G	T	11: 50,494,315 (GRCm39)	V130L	probably damaging	Het
Adcy4	C	T	14: 56,012,697 (GRCm39)	V541I	probably benign	Het
Adgrl2	C	T	3: 148,552,542 (GRCm39)	V654I	probably damaging	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
Akap11	A	T	14: 78,749,929 (GRCm39)	S819R		Het
Alox5ap	T	C	5: 149,224,419 (GRCm39)	F121L	probably damaging	Het
Baz2b	A	T	2: 59,731,858 (GRCm39)	M2060K	probably damaging	Het
Bltp3b	T	C	10: 89,627,281 (GRCm39)	S449P	probably benign	Het
C030005K15Rik	T	C	10: 97,561,414 (GRCm39)	I106V	unknown	Het
Carmil2	T	A	8: 106,417,716 (GRCm39)	S604T	probably benign	Het
Ccdc121rt2	C	T	5: 112,598,653 (GRCm39)	T400I	probably benign	Het
Cdhr1	T	C	14: 36,813,935 (GRCm39)	T164A	probably benign	Het
Dhx30	T	C	9: 109,914,569 (GRCm39)	E976G	possibly damaging	Het
Dnah17	C	T	11: 118,005,021 (GRCm39)	G788R	probably benign	Het
Dus2	T	C	8: 106,722,645 (GRCm39)		probably benign	Het
Etv6	T	C	6: 134,225,717 (GRCm39)	V316A	possibly damaging	Het
Fabp9	T	G	3: 10,259,085 (GRCm39)	K107T	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gapdh	A	G	6: 125,140,226 (GRCm39)	V92A	probably benign	Het
Gfy	A	G	7: 44,826,019 (GRCm39)	L453P	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Gtpbp8	T	C	16: 44,566,676 (GRCm39)	R9G	probably benign	Het
Hipk4	G	T	7: 27,223,033 (GRCm39)	R31L	probably damaging	Het
Htt	T	A	5: 35,063,068 (GRCm39)	M2900K	probably damaging	Het
Ighv1-20	T	C	12: 114,687,810 (GRCm39)	I6V	probably benign	Het
Il17d	C	T	14: 57,779,937 (GRCm39)	T153I	probably damaging	Het
Izumo3	T	A	4: 92,034,581 (GRCm39)	N117I	probably damaging	Het
Kcnh7	T	C	2: 62,680,879 (GRCm39)	D236G	probably benign	Het
Kmt2d	T	C	15: 98,750,478 (GRCm39)	D2405G	unknown	Het
Map4k2	T	C	19: 6,396,596 (GRCm39)	W533R	probably damaging	Het
Matn1	C	A	4: 130,673,300 (GRCm39)	Y89*	probably null	Het
Mettl18	T	A	1: 163,824,509 (GRCm39)	Y277N	probably damaging	Het
Muc5b	G	A	7: 141,417,898 (GRCm39)	G3615S	probably benign	Het
Mycbp2	A	C	14: 103,398,111 (GRCm39)		probably null	Het
Myh4	T	A	11: 67,143,390 (GRCm39)	S1041T	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naaladl1	T	C	19: 6,159,703 (GRCm39)	V378A	possibly damaging	Het
Nars1	T	C	18: 64,637,458 (GRCm39)	D374G	probably benign	Het
Neb	C	T	2: 52,198,283 (GRCm39)		probably null	Het
Neurl1b	A	G	17: 26,650,965 (GRCm39)	Y79C	probably damaging	Het
Nynrin	A	G	14: 56,101,248 (GRCm39)	T306A	probably benign	Het
Ola1	G	T	2: 73,029,745 (GRCm39)	R125S	probably damaging	Het
Or12d15	T	A	17: 37,694,122 (GRCm39)	F221L	probably benign	Het
Or51a43	A	T	7: 103,717,383 (GRCm39)	V285D	probably damaging	Het
Pak1ip1	C	A	13: 41,158,214 (GRCm39)	T29K	probably benign	Het
Podnl1	T	A	8: 84,857,402 (GRCm39)	L337H		Het
Rictor	T	G	15: 6,807,800 (GRCm39)		probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sel1l2	T	C	2: 140,072,753 (GRCm39)	I627M	probably benign	Het
Sh3rf2	T	C	18: 42,244,493 (GRCm39)	S352P	probably damaging	Het
Slc6a6	G	A	6: 91,703,224 (GRCm39)	W199*	probably null	Het
Smc2	T	A	4: 52,450,965 (GRCm39)	V261E	probably benign	Het
Sorcs3	G	A	19: 48,692,808 (GRCm39)		probably null	Het
Spdye4a	T	A	5: 143,211,562 (GRCm39)	M1L	probably benign	Het
Stag1	T	C	9: 100,639,819 (GRCm39)	I125T	possibly damaging	Het
Stx8	T	A	11: 67,911,814 (GRCm39)	D177E	probably benign	Het
Sun2	T	C	15: 79,623,125 (GRCm39)	Y71C	probably damaging	Het
Tmed9	T	C	13: 55,742,617 (GRCm39)	F129L	probably benign	Het
Tmem216	T	A	19: 10,529,336 (GRCm39)	T17S	probably benign	Het
Tmpo	A	T	10: 90,997,974 (GRCm39)	N604K	probably benign	Het
Tmprss11f	T	A	5: 86,681,666 (GRCm39)	I196F	probably benign	Het
Tnks	A	G	8: 35,301,738 (GRCm39)	F1244L	probably benign	Het
Tspan2	T	C	3: 102,676,226 (GRCm39)	C212R	probably damaging	Het
Tspan4	A	G	7: 141,071,718 (GRCm39)	D155G	probably damaging	Het
Ttc6	T	C	12: 57,707,282 (GRCm39)	F730L	possibly damaging	Het
Wnk1	C	T	6: 119,940,454 (GRCm39)	R761H	probably damaging	Het
Zfp217	T	C	2: 169,962,024 (GRCm39)	D101G	probably damaging	Het
Zfp281	T	C	1: 136,555,620 (GRCm39)	F866S	probably damaging	Het

Other mutations in Txnrd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Txnrd2	APN	16	18,257,101 (GRCm39)	missense	probably damaging	1.00
IGL00337:Txnrd2	APN	16	18,296,519 (GRCm39)	missense	probably damaging	1.00
IGL01988:Txnrd2	APN	16	18,274,768 (GRCm39)	splice site	probably benign
IGL02708:Txnrd2	APN	16	18,287,590 (GRCm39)	missense	probably benign	0.38
IGL02949:Txnrd2	APN	16	18,296,456 (GRCm39)	missense	probably benign	0.00
IGL03292:Txnrd2	APN	16	18,296,479 (GRCm39)	missense	possibly damaging	0.53
R0610:Txnrd2	UTSW	16	18,291,632 (GRCm39)	missense	probably damaging	0.96
R0723:Txnrd2	UTSW	16	18,259,629 (GRCm39)	splice site	probably benign
R1625:Txnrd2	UTSW	16	18,257,116 (GRCm39)	missense	probably damaging	1.00
R3000:Txnrd2	UTSW	16	18,273,263 (GRCm39)	missense	probably damaging	1.00
R4180:Txnrd2	UTSW	16	18,245,175 (GRCm39)	splice site	probably null
R4569:Txnrd2	UTSW	16	18,274,956 (GRCm39)	missense	probably benign
R4570:Txnrd2	UTSW	16	18,287,554 (GRCm39)	missense	probably benign	0.02
R4773:Txnrd2	UTSW	16	18,259,569 (GRCm39)	missense	probably benign	0.15
R5385:Txnrd2	UTSW	16	18,296,442 (GRCm39)	missense	probably damaging	1.00
R6074:Txnrd2	UTSW	16	18,256,297 (GRCm39)	missense	probably damaging	1.00
R7247:Txnrd2	UTSW	16	18,274,822 (GRCm39)	missense	probably damaging	0.99
R7630:Txnrd2	UTSW	16	18,257,140 (GRCm39)	missense	possibly damaging	0.69
R8383:Txnrd2	UTSW	16	18,291,614 (GRCm39)	missense	possibly damaging	0.83
R8428:Txnrd2	UTSW	16	18,275,048 (GRCm39)	missense	unknown
R8852:Txnrd2	UTSW	16	18,259,601 (GRCm39)	missense	possibly damaging	0.54
R9100:Txnrd2	UTSW	16	18,256,315 (GRCm39)	missense	probably damaging	1.00
R9455:Txnrd2	UTSW	16	18,248,615 (GRCm39)	missense	probably damaging	0.99
T0970:Txnrd2	UTSW	16	18,260,523 (GRCm39)	missense	probably damaging	0.97
T0975:Txnrd2	UTSW	16	18,294,315 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCTGATCCCGAGTCCGAG -3'
(R):5'- CAACGTTTTAGACACCTGGGG -3'

Sequencing Primer
(F):5'- GGCACCACTCACCTCGTC -3'
(R):5'- CGTTTTAGACACCTGGGGAAAAAGC -3'

Posted On

2020-09-02