Mutagenetix > Incidental Mutation

Incidental Mutation 'R9516:Mtrr'

718606

Institutional Source

Beutler Lab

Gene Symbol

Mtrr

Ensembl Gene

ENSMUSG00000034617

Gene Name

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9516 (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 68720755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 280 (I280T)

Ref Sequence

ENSEMBL: ENSMUSP00000039810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045827] [ENSMUST00000222107] [ENSMUST00000223101] [ENSMUST00000223398]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045827
AA Change: I280T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039810
Gene: ENSMUSG00000034617
AA Change: I280T

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: ENSMUST00000222107

Predicted Effect

unknown
Transcript: ENSMUST00000223101
AA Change: F156L

Predicted Effect

probably benign
Transcript: ENSMUST00000223398
AA Change: I280T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	T	C	2: 150,153,122 (GRCm39)	N88D	possibly damaging	Het
4933430I17Rik	A	G	4: 62,460,916 (GRCm39)	I264V	probably benign	Het
Abcc8	A	G	7: 45,787,429 (GRCm39)	F591L	probably benign	Het
Abr	G	T	11: 76,310,658 (GRCm39)	T810K	probably damaging	Het
Abracl	T	C	10: 17,894,631 (GRCm39)	E6G	unknown	Het
Adamts3	A	T	5: 89,834,750 (GRCm39)	Y871N	probably damaging	Het
Akap13	T	C	7: 75,354,275 (GRCm39)	Y80H	probably benign	Het
Alas1	A	G	9: 106,115,840 (GRCm39)		probably null	Het
Anapc1	A	C	2: 128,517,633 (GRCm39)	L337R	possibly damaging	Het
Apaf1	T	C	10: 90,915,816 (GRCm39)	Y24C	probably damaging	Het
Arhgef16	A	G	4: 154,365,432 (GRCm39)	V561A	possibly damaging	Het
Atp10b	T	A	11: 43,121,224 (GRCm39)	H962Q	probably benign	Het
Brsk2	A	G	7: 141,546,852 (GRCm39)	T432A	probably benign	Het
C1rl	T	A	6: 124,485,802 (GRCm39)	V391E	probably damaging	Het
Caps2	A	T	10: 112,036,637 (GRCm39)	H399L	probably benign	Het
Ccdc43	C	A	11: 102,577,207 (GRCm39)	K199N	probably benign	Het
Ccdc7a	G	T	8: 129,555,774 (GRCm39)	P1198T	unknown	Het
Cct7	A	G	6: 85,444,625 (GRCm39)	Y423C	possibly damaging	Het
Cep112	A	G	11: 108,648,514 (GRCm39)	T783A	probably damaging	Het
Cep250	A	G	2: 155,833,459 (GRCm39)	T1795A	probably benign	Het
Clasp1	T	G	1: 118,431,560 (GRCm39)	S397A	possibly damaging	Het
Clock	A	C	5: 76,377,227 (GRCm39)	F691V	possibly damaging	Het
Cmklr1	A	G	5: 113,752,341 (GRCm39)	V220A	probably benign	Het
Coro2b	A	T	9: 62,335,291 (GRCm39)	Y298*	probably null	Het
Cspg4b	A	T	13: 113,455,649 (GRCm39)	N565I		Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dlk2	G	A	17: 46,613,432 (GRCm39)	G186D	probably damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dok3	A	G	13: 55,672,186 (GRCm39)	I164T	probably benign	Het
Ercc5	T	A	1: 44,207,041 (GRCm39)	D651E	probably damaging	Het
Erp27	T	C	6: 136,885,066 (GRCm39)	K244R	probably benign	Het
Fhip1a	G	A	3: 85,580,559 (GRCm39)	Q549*	probably null	Het
Flvcr2	T	C	12: 85,793,954 (GRCm39)	V110A	possibly damaging	Het
Gsta3	T	C	1: 21,320,060 (GRCm39)	L22P	probably damaging	Het
Hdac5	T	C	11: 102,093,522 (GRCm39)	T493A	probably benign	Het
Hivep2	T	A	10: 14,005,523 (GRCm39)	I707N	probably benign	Het
Hmox1	A	G	8: 75,823,544 (GRCm39)	N71D	probably benign	Het
Hnrnpr	G	T	4: 136,063,615 (GRCm39)	V342F	probably damaging	Het
Ifi44	T	C	3: 151,438,108 (GRCm39)	D393G	probably damaging	Het
Ighv1-82	A	T	12: 115,916,566 (GRCm39)	F9I	probably damaging	Het
Kalrn	A	G	16: 33,854,864 (GRCm39)	S1999P	probably damaging	Het
Kcnq2	A	G	2: 180,776,753 (GRCm39)	S45P	probably benign	Het
Krt77	A	T	15: 101,769,779 (GRCm39)	Y364N	probably damaging	Het
Kti12	T	C	4: 108,705,476 (GRCm39)	V130A	probably benign	Het
Lama2	T	C	10: 27,100,015 (GRCm39)	E830G	probably benign	Het
Lrrn1	T	A	6: 107,545,505 (GRCm39)	H434Q	probably benign	Het
Med13	A	T	11: 86,179,801 (GRCm39)	N1382K	probably benign	Het
Mrpl42	A	G	10: 95,332,684 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,569,103 (GRCm39)	D1140G	probably benign	Het
Myh4	A	T	11: 67,139,290 (GRCm39)	I536F	probably damaging	Het
Myh4	T	A	11: 67,141,129 (GRCm39)	N730K	probably damaging	Het
Nat10	A	C	2: 103,563,364 (GRCm39)	L545R	probably damaging	Het
Nav3	T	A	10: 109,520,015 (GRCm39)	D2356V	probably damaging	Het
Nbea	A	T	3: 55,937,366 (GRCm39)	S748R	probably damaging	Het
Nlrp1a	T	C	11: 70,998,488 (GRCm39)	T904A	probably benign	Het
Nod2	A	T	8: 89,397,050 (GRCm39)	N820I	probably damaging	Het
Nptx1	A	G	11: 119,433,381 (GRCm39)	V406A	probably damaging	Het
Nrdc	T	A	4: 108,901,863 (GRCm39)	I644K	probably benign	Het
Or4e1	T	C	14: 52,700,873 (GRCm39)	I198V	probably benign	Het
Ostf1	T	A	19: 18,573,735 (GRCm39)	I38F	probably benign	Het
Pacc1	G	A	1: 191,082,004 (GRCm39)	R337Q	probably damaging	Het
Pde4b	G	T	4: 102,462,183 (GRCm39)	D605Y	probably damaging	Het
Pde4d	A	G	13: 109,397,196 (GRCm39)	T3A		Het
Pknox1	A	G	17: 31,822,183 (GRCm39)	I317V	probably damaging	Het
Plekhh2	A	G	17: 84,918,240 (GRCm39)	N1283S	probably benign	Het
Ppp3cb	G	A	14: 20,573,868 (GRCm39)	A289V	probably damaging	Het
Prag1	A	G	8: 36,607,208 (GRCm39)	D983G	probably damaging	Het
Psmd13	C	T	7: 140,478,455 (GRCm39)	T62M		Het
Rab42	C	T	4: 132,029,890 (GRCm39)	V111I		Het
Rabl2	T	A	15: 89,474,631 (GRCm39)		probably null	Het
Rapgef6	T	A	11: 54,582,169 (GRCm39)	S1365R	probably damaging	Het
Rassf4	G	T	6: 116,617,265 (GRCm39)	H247N	possibly damaging	Het
Rbfox1	A	G	16: 7,227,573 (GRCm39)	T363A	probably benign	Het
Rbmyf9	T	A	Y: 3,774,888 (GRCm39)	F28L	probably damaging	Het
Sbf1	T	C	15: 89,184,742 (GRCm39)	D1091G	probably damaging	Het
Scaper	A	G	9: 55,593,275 (GRCm39)	V454A	probably benign	Het
Selenbp2	G	A	3: 94,607,352 (GRCm39)	D258N	probably benign	Het
Sirpa	A	T	2: 129,457,555 (GRCm39)	I210F	probably damaging	Het
Skint4	T	C	4: 112,015,236 (GRCm39)	S434P	probably benign	Het
Slc26a5	G	A	5: 22,016,337 (GRCm39)	Q682*	probably null	Het
Slco4a1	C	T	2: 180,115,943 (GRCm39)	S693F	possibly damaging	Het
Smpd3	A	G	8: 106,992,119 (GRCm39)	F145L	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Spata31d1c	A	T	13: 65,184,040 (GRCm39)	L527F	probably damaging	Het
Srd5a3	A	G	5: 76,297,794 (GRCm39)	N199D	probably benign	Het
Stard9	C	G	2: 120,534,564 (GRCm39)	P3607R	probably damaging	Het
Sytl1	A	G	4: 132,986,291 (GRCm39)		probably null	Het
Tas2r126	A	G	6: 42,412,307 (GRCm39)	H280R	probably null	Het
Tcf4	C	T	18: 69,652,944 (GRCm39)		probably benign	Het
Tlcd2	A	G	11: 75,359,112 (GRCm39)	T28A	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem119	A	G	5: 113,933,267 (GRCm39)	L178P	probably damaging	Het
Tmprss7	T	C	16: 45,484,564 (GRCm39)	D532G	probably benign	Het
Tnfaip8l3	A	G	9: 53,934,777 (GRCm39)	I66T	probably benign	Het
Tor1b	A	G	2: 30,843,185 (GRCm39)	Y50C	probably damaging	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Tpra1	T	C	6: 88,887,221 (GRCm39)	V193A	probably benign	Het
Trip12	A	T	1: 84,735,215 (GRCm39)	V932E	probably damaging	Het
Ttn	T	A	2: 76,777,104 (GRCm39)	T1479S	unknown	Het
Unc13c	A	T	9: 73,392,220 (GRCm39)	V2044D	probably damaging	Het
Usp25	T	G	16: 76,852,076 (GRCm39)	V197G	probably damaging	Het
Vmn2r34	A	G	7: 7,675,366 (GRCm39)	V674A	probably benign	Het
Zfp7	T	C	15: 76,775,484 (GRCm39)	S509P	probably damaging	Het
Zfp821	A	G	8: 110,447,856 (GRCm39)	T66A	probably damaging	Het
Zfp97	T	A	17: 17,365,930 (GRCm39)	N476K	possibly damaging	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
R7562:Mtrr	UTSW	13	68,714,336 (GRCm39)	missense	probably damaging	0.96
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
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'- TCTGCACTCAAGAGGAACG -3'
(R):5'- TAGGGCTCCATCTGTCTCAG -3'

Sequencing Primer
(F):5'- CACTCAAGAGGAACGAGGCG -3'
(R):5'- GTCTCAGCAACTTCTTAATGTGG -3'

Posted On

2022-07-18