Mutagenetix > Incidental Mutation

Incidental Mutation 'R4773:Txnrd2'

367718

Institutional Source

Beutler Lab

Gene Symbol

Txnrd2

Ensembl Gene

ENSMUSG00000075704

Gene Name

thioredoxin reductase 2

Synonyms

ESTM573010, TGR, TR beta, TR3

MMRRC Submission

042411-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4773 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18245167-18297823 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 18259569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 126 (A126G)

Ref Sequence

ENSEMBL: ENSMUSP00000145926 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000115604
AA Change: A162G

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000111267
Gene: ENSMUSG00000075704
AA Change: A162G

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

unknown
Transcript: ENSMUST00000115605
AA Change: A143G

SMART Domains

Protein: ENSMUSP00000111268
Gene: ENSMUSG00000075704
AA Change: A143G

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

probably benign
Transcript: ENSMUST00000115606
AA Change: A162G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704
AA Change: A162G

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: ENSMUST00000126778

Predicted Effect

probably benign
Transcript: ENSMUST00000131303

Predicted Effect

unknown
Transcript: ENSMUST00000138310
AA Change: A6G

Predicted Effect

probably benign
Transcript: ENSMUST00000144233
AA Change: A126G

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000178093
AA Change: A159G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704
AA Change: A159G

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

probably benign
Transcript: ENSMUST00000177856
AA Change: A159G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704
AA Change: A159G

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

probably benign
Transcript: ENSMUST00000206606
AA Change: A162G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000205679
AA Change: A140G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206151
AA Change: A162G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.1585

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (89/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	A	G	11: 50,982,089 (GRCm39)		noncoding transcript	Het
Actl7b	T	C	4: 56,740,972 (GRCm39)	I129V	probably benign	Het
Adipor2	A	G	6: 119,336,047 (GRCm39)	L225P	probably benign	Het
Arhgap25	A	G	6: 87,473,053 (GRCm39)	F35L	probably benign	Het
Asah2	A	T	19: 32,030,258 (GRCm39)	M138K	probably damaging	Het
Asxl1	T	A	2: 153,243,905 (GRCm39)	M1486K	probably damaging	Het
B4galt4	T	A	16: 38,572,658 (GRCm39)	S114R	probably benign	Het
Brpf3	T	G	17: 29,040,233 (GRCm39)	S885A	probably benign	Het
Cacna1g	G	T	11: 94,302,298 (GRCm39)	H1944N	possibly damaging	Het
Cby2	T	A	14: 75,820,546 (GRCm39)	Y393F	probably damaging	Het
Ccdc110	G	A	8: 46,396,245 (GRCm39)	C712Y	probably damaging	Het
Ccdc175	A	T	12: 72,182,822 (GRCm39)	I399N	probably damaging	Het
Cct8l1	A	T	5: 25,722,754 (GRCm39)	T490S	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Copa	A	G	1: 171,932,787 (GRCm39)	N371D	probably damaging	Het
Cpeb1	A	T	7: 81,005,695 (GRCm39)	H381Q	probably benign	Het
Cyp2d40	T	A	15: 82,645,763 (GRCm39)	I81F	possibly damaging	Het
Dscc1	A	T	15: 54,943,654 (GRCm39)	D405E	probably benign	Het
Ece1	A	G	4: 137,672,464 (GRCm39)	D369G	probably benign	Het
Exd2	T	C	12: 80,522,592 (GRCm39)	V17A	possibly damaging	Het
Fam111a	A	T	19: 12,565,772 (GRCm39)	N507I	possibly damaging	Het
Flnc	T	C	6: 29,445,038 (GRCm39)	V719A	possibly damaging	Het
Fscb	C	T	12: 64,520,464 (GRCm39)	G334D	probably damaging	Het
Glud1	T	C	14: 34,043,782 (GRCm39)		probably null	Het
Gm8126	T	A	14: 43,119,072 (GRCm39)	Y180*	probably null	Het
Grip2	G	A	6: 91,759,413 (GRCm39)	P347L	possibly damaging	Het
H1f3	T	C	13: 23,739,576 (GRCm39)	S105P	probably damaging	Het
H60b	C	T	10: 22,164,644 (GRCm39)		probably benign	Het
Iqca1l	A	G	5: 24,755,596 (GRCm39)		probably null	Het
Itga6	T	C	2: 71,652,788 (GRCm39)	V217A	probably benign	Het
Kndc1	G	A	7: 139,503,946 (GRCm39)	W1083*	probably null	Het
Limch1	A	T	5: 67,184,850 (GRCm39)	D613V	probably damaging	Het
Lpl	T	A	8: 69,349,403 (GRCm39)	C310S	probably damaging	Het
Marchf1	T	A	8: 66,839,876 (GRCm39)	C220S	probably benign	Het
Mbd5	A	C	2: 49,164,623 (GRCm39)	H308P	probably damaging	Het
Med13	T	C	11: 86,167,746 (GRCm39)	D2003G	probably damaging	Het
Mettl16	T	A	11: 74,708,127 (GRCm39)	V442D	possibly damaging	Het
Mstn	A	T	1: 53,101,267 (GRCm39)	T115S	probably benign	Het
Mtcl2	G	T	2: 156,872,489 (GRCm39)	Q953K	probably benign	Het
Nfil3	A	G	13: 53,122,050 (GRCm39)	S285P	probably damaging	Het
Odad4	C	A	11: 100,440,742 (GRCm39)	N74K	probably benign	Het
Or10j3	A	C	1: 173,031,796 (GRCm39)	Y291S	probably damaging	Het
Or51a24	A	G	7: 103,733,502 (GRCm39)	S262P	probably damaging	Het
Otof	A	G	5: 30,552,026 (GRCm39)	V321A	probably benign	Het
Pcdha8	G	T	18: 37,127,626 (GRCm39)	A703S	probably damaging	Het
Pcdhb18	A	G	18: 37,623,507 (GRCm39)	Y279C	probably damaging	Het
Pdgfa	T	C	5: 138,979,051 (GRCm39)	D51G	probably benign	Het
Pdzd8	A	G	19: 59,289,292 (GRCm39)	Y703H	probably damaging	Het
Pecr	G	T	1: 72,306,594 (GRCm39)	P229Q	probably damaging	Het
Phkg1	G	T	5: 129,902,114 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,051,150 (GRCm39)	H356Q	probably benign	Het
Polr1b	T	C	2: 128,947,248 (GRCm39)	I191T	probably benign	Het
Ppp4r3a	A	G	12: 101,049,026 (GRCm39)	L35P	possibly damaging	Het
Rasa2	C	T	9: 96,426,470 (GRCm39)	G792D	probably benign	Het
Rps11-ps4	T	C	12: 51,344,406 (GRCm39)		noncoding transcript	Het
Sema3g	A	G	14: 30,942,666 (GRCm39)	D89G	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slfn8	A	G	11: 82,908,219 (GRCm39)	V108A	probably damaging	Het
Smg9	T	A	7: 24,107,019 (GRCm39)	M221K	possibly damaging	Het
Sos1	A	G	17: 80,705,660 (GRCm39)	S1304P	probably damaging	Het
Sqle	C	A	15: 59,189,688 (GRCm39)	A110E	possibly damaging	Het
Stab2	G	A	10: 86,743,235 (GRCm39)	Q1154*	probably null	Het
Taf4b	A	G	18: 14,937,577 (GRCm39)	T217A	probably benign	Het
Tex15	T	C	8: 34,072,760 (GRCm39)	V2769A	probably benign	Het
Tmem156	A	T	5: 65,237,502 (GRCm39)	C53S	probably damaging	Het
Tmtc3	T	A	10: 100,293,001 (GRCm39)	K452N	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tph1	T	C	7: 46,306,376 (GRCm39)	E195G	probably damaging	Het
Trpc6	T	A	9: 8,609,852 (GRCm39)	Y107N	possibly damaging	Het
Tsga10	G	A	1: 37,874,606 (GRCm39)	T93I	probably damaging	Het
Ttn	T	A	2: 76,571,778 (GRCm39)	N26372Y	probably damaging	Het
Tubd1	T	C	11: 86,446,128 (GRCm39)	L256P	possibly damaging	Het
Vmn1r210	T	G	13: 23,011,374 (GRCm39)	K304T	probably benign	Het
Vps25	T	C	11: 101,149,655 (GRCm39)	S160P	probably benign	Het
Vrk3	T	A	7: 44,424,900 (GRCm39)	D438E	probably benign	Het
Vwa5b1	A	G	4: 138,309,066 (GRCm39)	L708P	probably benign	Het
Washc3	C	T	10: 88,055,124 (GRCm39)	Q105*	probably null	Het
Wdr83os	T	A	8: 85,807,410 (GRCm39)		probably benign	Het
Wwc1	T	C	11: 35,758,123 (GRCm39)	H741R	probably benign	Het
Zan	T	C	5: 137,434,575 (GRCm39)		probably benign	Het
Zdhhc4	A	T	5: 143,311,931 (GRCm39)	L14I	possibly damaging	Het
Zfp568	T	A	7: 29,697,195 (GRCm39)	D38E	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
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
R8343:Txnrd2	UTSW	16	18,245,291 (GRCm39)	missense	unknown
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'- TTTAGACTGAAGCGAGCGG -3'
(R):5'- GTTGAATCACTCTGAAGAAGTGTG -3'

Sequencing Primer
(F):5'- CCTGACTTTCTTCAGTGATGCGAAAG -3'
(R):5'- GTGACTTCAAAGGCAGCTGTTAAC -3'

Posted On

2015-12-29