Mutagenetix > Incidental Mutation

Incidental Mutation 'R7562:Mtrr'

585211

Institutional Source

Beutler Lab

Gene Symbol

Mtrr

Ensembl Gene

ENSMUSG00000034617

Gene Name

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Synonyms

MMRRC Submission

045627-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7562 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68708899-68730268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68714336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 468 (F468L)

Ref Sequence

ENSEMBL: ENSMUSP00000039810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045827] [ENSMUST00000223101] [ENSMUST00000223398]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000045827
AA Change: F468L

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

SMART Domains

Protein: ENSMUSP00000039810
Gene: ENSMUSG00000034617
AA Change: F468L

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_5	5	126	2.7e-9	PFAM
Pfam:Flavodoxin_1	6	142	4.3e-32	PFAM
Pfam:FAD_binding_1	267	490	2.6e-51	PFAM
Pfam:NAD_binding_1	540	660	5.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220544

Predicted Effect

probably benign
Transcript: ENSMUST00000223101

Predicted Effect

probably damaging
Transcript: ENSMUST00000223398
AA Change: F468L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Mutations in a similar gene in human have been associated with cblE complementation type homocystinuria-megaloblastic anemia and susceptibility to folate-sensitive neural tube defects. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele are viable and display a male-specific reduction in postnatal weight gain as well as hyperhomocysteinemia, hypomethionemia, increased tissue methyltetrahydrofolate, and AdoMet/AdoHcy ratios that range from high to slightly below normal. [provided by MGI curators]

Allele List at MGI

All alleles(46) : Gene trapped(46)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 36,030,563 (GRCm39)	T544M	probably benign	Het
Adamts12	A	G	15: 11,270,697 (GRCm39)	R651G	probably benign	Het
Adck1	G	A	12: 88,335,203 (GRCm39)	D30N	possibly damaging	Het
Alcam	T	A	16: 52,089,186 (GRCm39)	I505F	probably benign	Het
Alms1	T	C	6: 85,597,394 (GRCm39)	L740P	probably damaging	Het
Ankib1	C	T	5: 3,797,021 (GRCm39)	D264N	probably null	Het
Arid2	T	G	15: 96,299,849 (GRCm39)	H1787Q	probably damaging	Het
Asf1a	C	T	10: 53,482,283 (GRCm39)	R102*	probably null	Het
Atp2b1	C	A	10: 98,858,667 (GRCm39)		probably null	Het
Bdp1	T	C	13: 100,162,049 (GRCm39)	D2291G	probably benign	Het
Bnip5	T	C	17: 29,128,778 (GRCm39)	D45G	probably benign	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Catsperg2	A	G	7: 29,397,144 (GRCm39)	F1120L	probably benign	Het
Ccdc80	C	T	16: 44,943,266 (GRCm39)	A792V	probably damaging	Het
Cdcp3	T	A	7: 130,904,426 (GRCm39)	D2381E	unknown	Het
Cenpe	C	T	3: 134,954,395 (GRCm39)	R1751W	probably damaging	Het
Cenpm	T	C	15: 82,125,562 (GRCm39)	I66V	probably benign	Het
Clcn4	A	G	7: 7,298,081 (GRCm39)	W103R	possibly damaging	Het
Cntn2	T	C	1: 132,454,055 (GRCm39)	D317G	possibly damaging	Het
Cwf19l1	G	A	19: 44,117,680 (GRCm39)	T154M	probably damaging	Het
Cyp2a4	T	A	7: 26,012,321 (GRCm39)	M368K	possibly damaging	Het
Dars1	A	G	1: 128,294,763 (GRCm39)	S413P	possibly damaging	Het
Dscc1	A	G	15: 54,947,581 (GRCm39)	Y200H	probably benign	Het
Dsn1	A	T	2: 156,842,792 (GRCm39)	D183E	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Fancc	A	T	13: 63,550,867 (GRCm39)		probably null	Het
Fbxo34	T	A	14: 47,767,135 (GRCm39)	M216K	probably benign	Het
Fer1l6	T	G	15: 58,432,331 (GRCm39)	S293A	probably benign	Het
Foxn1	T	A	11: 78,261,958 (GRCm39)	E137V	probably damaging	Het
Fshr	A	C	17: 89,295,925 (GRCm39)	F261V	probably damaging	Het
Gabrb3	C	T	7: 57,461,926 (GRCm39)	R153*	probably null	Het
Garin1b	T	C	6: 29,323,833 (GRCm39)	V186A	probably damaging	Het
Gps2	C	A	11: 69,807,308 (GRCm39)	N321K	probably benign	Het
Hdgf	T	C	3: 87,813,993 (GRCm39)	M20T	possibly damaging	Het
Igdcc4	G	T	9: 65,031,306 (GRCm39)	A415S	probably damaging	Het
Kif26b	A	G	1: 178,742,541 (GRCm39)	E879G	probably damaging	Het
Krt13	T	C	11: 100,010,162 (GRCm39)	Y273C	probably damaging	Het
Mab21l4	C	A	1: 93,087,689 (GRCm39)	V55F	probably damaging	Het
Mag	A	G	7: 30,608,559 (GRCm39)	V185A	possibly damaging	Het
Map3k21	C	T	8: 126,665,539 (GRCm39)	T576M	probably damaging	Het
Mtcl2	A	C	2: 156,895,509 (GRCm39)	L332R	probably damaging	Het
Myb	C	T	10: 21,017,653 (GRCm39)		probably null	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nckap5l	A	T	15: 99,321,166 (GRCm39)		probably null	Het
Nop9	C	T	14: 55,986,809 (GRCm39)	R240W	probably benign	Het
Notch2	T	C	3: 98,020,430 (GRCm39)	L775P	probably damaging	Het
Or13a27	T	C	7: 139,925,143 (GRCm39)	Y253C	probably damaging	Het
Or4c116	C	T	2: 88,942,629 (GRCm39)	V76I	probably benign	Het
Or55b10	T	A	7: 102,143,227 (GRCm39)	I252F	possibly damaging	Het
Or7a40	T	C	16: 16,491,579 (GRCm39)	N89D	probably benign	Het
Or8c9	A	G	9: 38,241,239 (GRCm39)	T116A	probably damaging	Het
Oxa1l	T	A	14: 54,600,934 (GRCm39)	W136R	probably damaging	Het
Palm3	T	A	8: 84,748,136 (GRCm39)	V7E	possibly damaging	Het
Pkhd1l1	C	G	15: 44,378,326 (GRCm39)	R1027G	possibly damaging	Het
Prickle2	A	T	6: 92,352,929 (GRCm39)	*902K	probably null	Het
Rassf7	C	T	7: 140,797,101 (GRCm39)	R105*	probably null	Het
Septin9	T	C	11: 117,217,337 (GRCm39)		probably null	Het
Sorbs3	T	C	14: 70,444,976 (GRCm39)	N34S	probably benign	Het
Sos2	T	C	12: 69,682,412 (GRCm39)	T269A	probably benign	Het
Spata20	T	G	11: 94,373,379 (GRCm39)	K497N	probably benign	Het
Speg	A	G	1: 75,407,923 (GRCm39)	D3206G	probably damaging	Het
Tenm4	A	G	7: 96,538,021 (GRCm39)	T1865A	probably damaging	Het
Tmc5	A	T	7: 118,222,549 (GRCm39)	Y83F	probably benign	Het
Tmem175	T	A	5: 108,789,715 (GRCm39)	D103E	probably damaging	Het
Top2b	A	C	14: 16,412,946 (GRCm38)	M952L	probably benign	Het
Vmn2r6	T	C	3: 64,463,941 (GRCm39)	I298V	probably benign	Het
Vmn2r69	T	C	7: 85,056,420 (GRCm39)	I573V	probably benign	Het
Vmn2r93	A	G	17: 18,518,731 (GRCm39)	I63M	probably benign	Het
Zfp568	G	A	7: 29,722,681 (GRCm39)	R542H	probably benign	Het

Other mutations in Mtrr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01787:Mtrr	APN	13	68,719,266 (GRCm39)	missense	probably damaging	1.00
IGL01806:Mtrr	APN	13	68,728,719 (GRCm39)	missense	possibly damaging	0.92
IGL01808:Mtrr	APN	13	68,714,212 (GRCm39)	missense	probably benign	0.00
IGL01875:Mtrr	APN	13	68,720,728 (GRCm39)	missense	probably damaging	1.00
IGL02137:Mtrr	APN	13	68,716,920 (GRCm39)	missense	possibly damaging	0.75
IGL02186:Mtrr	APN	13	68,712,476 (GRCm39)	missense	probably benign
IGL03114:Mtrr	APN	13	68,712,441 (GRCm39)	nonsense	probably null
3-1:Mtrr	UTSW	13	68,723,135 (GRCm39)	critical splice donor site	probably null
H8562:Mtrr	UTSW	13	68,712,496 (GRCm39)	missense	probably damaging	0.97
N/A:Mtrr	UTSW	13	68,723,516 (GRCm39)	splice site	probably benign
R0007:Mtrr	UTSW	13	68,723,449 (GRCm39)	missense	probably benign	0.02
R0741:Mtrr	UTSW	13	68,727,658 (GRCm39)	splice site	probably null
R2140:Mtrr	UTSW	13	68,717,059 (GRCm39)	missense	possibly damaging	0.47
R2513:Mtrr	UTSW	13	68,715,092 (GRCm39)	nonsense	probably null
R4604:Mtrr	UTSW	13	68,712,631 (GRCm39)	splice site	probably null
R5501:Mtrr	UTSW	13	68,727,766 (GRCm39)	missense	probably damaging	1.00
R5658:Mtrr	UTSW	13	68,717,034 (GRCm39)	missense	possibly damaging	0.67
R6477:Mtrr	UTSW	13	68,718,192 (GRCm39)	missense	probably damaging	1.00
R6694:Mtrr	UTSW	13	68,712,452 (GRCm39)	missense	probably benign
R6979:Mtrr	UTSW	13	68,718,122 (GRCm39)	critical splice donor site	probably null
R7094:Mtrr	UTSW	13	68,727,803 (GRCm39)	missense	possibly damaging	0.83
R7296:Mtrr	UTSW	13	68,716,979 (GRCm39)	nonsense	probably null
R7354:Mtrr	UTSW	13	68,714,326 (GRCm39)	missense	probably damaging	1.00
R7378:Mtrr	UTSW	13	68,712,521 (GRCm39)	missense	probably damaging	1.00
R7546:Mtrr	UTSW	13	68,730,268 (GRCm39)	unclassified	probably benign
R7759:Mtrr	UTSW	13	68,718,146 (GRCm39)	missense	probably damaging	1.00
R7975:Mtrr	UTSW	13	68,727,666 (GRCm39)	splice site	probably null
R8101:Mtrr	UTSW	13	68,725,740 (GRCm39)	missense	probably damaging	1.00
R8168:Mtrr	UTSW	13	68,720,732 (GRCm39)	missense	probably benign	0.00
R9097:Mtrr	UTSW	13	68,723,441 (GRCm39)	missense	probably benign	0.28
R9260:Mtrr	UTSW	13	68,728,674 (GRCm39)	missense	possibly damaging	0.70
R9295:Mtrr	UTSW	13	68,719,258 (GRCm39)	missense	possibly damaging	0.94
R9516:Mtrr	UTSW	13	68,720,755 (GRCm39)	missense	probably benign	0.00
R9517:Mtrr	UTSW	13	68,728,730 (GRCm39)	missense	probably benign	0.06
R9627:Mtrr	UTSW	13	68,725,756 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACACCGGTTCAGTACCTC -3'
(R):5'- GGGGCATCTCACTTTCTACAGAC -3'

Sequencing Primer
(F):5'- TTCAGTACCTCAGGAGCCAGAG -3'
(R):5'- GTAGATACTACTGGAAACTCTCCTG -3'

Posted On

2019-10-17