Mutagenetix > Incidental Mutation

Incidental Mutation 'R0610:Txnrd2'

54659

Institutional Source

Beutler Lab

Gene Symbol

Txnrd2

Ensembl Gene

ENSMUSG00000075704

Gene Name

thioredoxin reductase 2

Synonyms

ESTM573010, TGR, TR beta, TR3

MMRRC Submission

038799-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0610 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

18245167-18297823 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18291632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 427 (V427A)

Ref Sequence

ENSEMBL: ENSMUSP00000146030 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115605
AA Change: V408A

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111268
Gene: ENSMUSG00000075704
AA Change: V408A

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 damaging
Transcript: ENSMUST00000115606
AA Change: V427A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704
AA Change: V427A

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

noncoding transcript
Transcript: ENSMUST00000126330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156604

Predicted Effect

probably damaging
Transcript: ENSMUST00000177856
AA Change: V424A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704
AA Change: V424A

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 damaging
Transcript: ENSMUST00000206151
AA Change: V427A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205679
AA Change: V405A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000206606

Predicted Effect

probably benign
Transcript: ENSMUST00000178093

SMART Domains

Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704

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

Meta Mutation Damage Score

0.8113

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.7%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4930578I06Rik	G	A	14: 64,223,714 (GRCm39)	R21*	probably null	Het
Abca15	A	G	7: 119,965,009 (GRCm39)	E757G	possibly damaging	Het
Abca5	T	C	11: 110,192,353 (GRCm39)	T720A	probably benign	Het
Actr5	T	A	2: 158,474,376 (GRCm39)		probably null	Het
Adgrl3	T	C	5: 81,841,563 (GRCm39)		probably benign	Het
Adra1a	A	G	14: 66,875,241 (GRCm39)	D72G	probably damaging	Het
Ahcyl	T	C	16: 45,974,264 (GRCm39)	E371G	probably damaging	Het
Ahnak	G	T	19: 8,985,242 (GRCm39)	L2175F	probably benign	Het
AK157302	A	G	13: 21,679,833 (GRCm39)	T120A	possibly damaging	Het
Apol7a	G	A	15: 77,273,454 (GRCm39)	A336V	probably benign	Het
Asic1	C	A	15: 99,596,780 (GRCm39)	H525Q	probably benign	Het
Atxn7l2	T	C	3: 108,112,090 (GRCm39)	D335G	possibly damaging	Het
Bpgm	G	T	6: 34,481,284 (GRCm39)	R227L	possibly damaging	Het
Calm4	T	A	13: 3,888,320 (GRCm39)	V142E	possibly damaging	Het
Catsperg1	A	T	7: 28,890,044 (GRCm39)	L721Q	probably damaging	Het
Cdh26	A	G	2: 178,091,691 (GRCm39)	I83M	probably damaging	Het
Cep295	A	C	9: 15,234,050 (GRCm39)	S2249A	possibly damaging	Het
Cfhr4	G	A	1: 139,629,584 (GRCm39)	T799I	probably benign	Het
Cln3	A	G	7: 126,179,361 (GRCm39)	F139L	probably damaging	Het
Cmpk2	T	A	12: 26,528,055 (GRCm39)	L424Q	possibly damaging	Het
Col12a1	A	T	9: 79,615,130 (GRCm39)	V53E	probably benign	Het
Csmd1	G	A	8: 15,968,208 (GRCm39)	R3140C	possibly damaging	Het
Dagla	A	G	19: 10,248,922 (GRCm39)	W11R	probably damaging	Het
Dbx2	C	T	15: 95,522,778 (GRCm39)	V310M	probably benign	Het
Disp2	T	A	2: 118,622,717 (GRCm39)	C1150S	probably benign	Het
Dock3	T	C	9: 106,900,987 (GRCm39)	D326G	probably damaging	Het
Dph1	G	T	11: 75,076,783 (GRCm39)		probably benign	Het
Dyrk1b	C	A	7: 27,886,059 (GRCm39)	T594K	probably damaging	Het
Evx2	C	A	2: 74,486,331 (GRCm39)	A353S	probably benign	Het
Garin1b	T	A	6: 29,326,576 (GRCm39)	V231E	probably benign	Het
Greb1	A	C	12: 16,746,443 (GRCm39)	S1276A	probably benign	Het
Hhipl1	T	A	12: 108,285,661 (GRCm39)	C490*	probably null	Het
Hmmr	G	T	11: 40,606,729 (GRCm39)	T231K	probably damaging	Het
Hspa4l	A	C	3: 40,733,832 (GRCm39)	E526D	probably benign	Het
Ibsp	A	G	5: 104,458,000 (GRCm39)	E179G	probably benign	Het
Ift140	C	T	17: 25,254,777 (GRCm39)	A150V	probably benign	Het
Igf2bp2	A	G	16: 21,889,059 (GRCm39)	S416P	probably benign	Het
Ighe	T	C	12: 113,235,363 (GRCm39)	K294E	unknown	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kng2	T	A	16: 22,819,344 (GRCm39)	N231Y	possibly damaging	Het
Lca5	A	T	9: 83,281,792 (GRCm39)	C331S	probably benign	Het
Lrrc1	A	G	9: 77,379,488 (GRCm39)	I101T	possibly damaging	Het
Lrrk2	A	T	15: 91,699,619 (GRCm39)	I2489L	probably benign	Het
Lyz3	A	G	10: 117,073,635 (GRCm39)	F66S	probably benign	Het
Mapk9	A	C	11: 49,754,400 (GRCm39)	N51T	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Nek2	T	A	1: 191,554,627 (GRCm39)	V113D	probably damaging	Het
Nr4a3	C	A	4: 48,051,903 (GRCm39)	A248E	probably benign	Het
Nrp1	T	C	8: 129,229,099 (GRCm39)	I859T	probably damaging	Het
Olfm5	A	T	7: 103,803,652 (GRCm39)	Y195*	probably null	Het
Or13j1	T	A	4: 43,706,400 (GRCm39)	H56L	possibly damaging	Het
Or1n2	T	A	2: 36,797,671 (GRCm39)	W238R	probably damaging	Het
Or8g35	A	G	9: 39,381,119 (GRCm39)	L301P	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pcnx2	A	G	8: 126,566,426 (GRCm39)	W1006R	probably damaging	Het
Pdpk1	T	C	17: 24,317,145 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,637,838 (GRCm39)	H3731L	probably damaging	Het
Sdr16c5	T	G	4: 4,016,116 (GRCm39)	E103D	possibly damaging	Het
Setdb2	A	C	14: 59,654,919 (GRCm39)	S324A	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc17a8	A	T	10: 89,412,488 (GRCm39)	I499K	probably damaging	Het
Slc2a9	T	A	5: 38,537,285 (GRCm39)	I389F	probably damaging	Het
Slc30a1	T	C	1: 191,641,536 (GRCm39)	V394A	probably damaging	Het
Slc41a2	A	G	10: 83,119,592 (GRCm39)	I390T	possibly damaging	Het
Slco1a1	A	G	6: 141,864,187 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,433,016 (GRCm39)	K1053E	possibly damaging	Het
Smarca2	T	A	19: 26,668,791 (GRCm39)	L930Q	probably damaging	Het
Snx6	T	C	12: 54,798,574 (GRCm39)	H387R	probably damaging	Het
Sox5	A	T	6: 143,779,165 (GRCm39)	M622K	possibly damaging	Het
Ston1	C	A	17: 88,942,709 (GRCm39)	N38K	possibly damaging	Het
Strbp	C	T	2: 37,474,089 (GRCm39)	V658I	probably damaging	Het
Strn3	T	C	12: 51,657,231 (GRCm39)		probably null	Het
Suco	T	G	1: 161,687,072 (GRCm39)	D96A	probably benign	Het
Suco	A	G	1: 161,691,601 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,030,061 (GRCm39)		probably benign	Het
Tmem41b	T	A	7: 109,580,290 (GRCm39)	M25L	probably benign	Het
Tmem41b	T	A	7: 109,580,292 (GRCm39)	D91V	probably damaging	Het
Tmem50b	C	T	16: 91,380,174 (GRCm39)	A68T	probably damaging	Het
Tmprss11e	G	A	5: 86,855,206 (GRCm39)	Q400*	probably null	Het
Tnfsf13b	G	A	8: 10,081,661 (GRCm39)		probably null	Het
Trappc8	A	G	18: 20,970,245 (GRCm39)	V916A	probably damaging	Het
Trdn	G	T	10: 33,350,449 (GRCm39)	V673F	probably damaging	Het
Trim28	G	T	7: 12,759,711 (GRCm39)		probably benign	Het
Uggt1	T	C	1: 36,204,587 (GRCm39)		probably benign	Het
Vmn1r36	A	G	6: 66,693,404 (GRCm39)	L51P	probably damaging	Het
Vmn1r63	T	A	7: 5,806,063 (GRCm39)	M190L	possibly damaging	Het
Vmn2r116	T	A	17: 23,606,286 (GRCm39)	N399K	probably damaging	Het
Vmn2r117	T	C	17: 23,694,488 (GRCm39)	N453S	probably benign	Het
Wbp1l	T	A	19: 46,643,109 (GRCm39)	I370N	probably damaging	Het
Zfp445	T	C	9: 122,682,046 (GRCm39)	K632E	probably benign	Het
Zfp850	C	T	7: 27,688,819 (GRCm39)	R463H	probably damaging	Het
Zyg11a	A	G	4: 108,062,054 (GRCm39)	L249P	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
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
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'- AAAGCCTGTGTCCGTGAGCTATCC -3'
(R):5'- TAGGCACACACTAAAGCTGCCG -3'

Sequencing Primer
(F):5'- ACTGCTCAAGTGTCACTCAGG -3'
(R):5'- CACACTATGCCCTGACAAGA -3'

Posted On

2013-07-11