Mutagenetix > Incidental Mutation

Incidental Mutation 'R4655:Mtr'

352381

Institutional Source

Beutler Lab

Gene Symbol

Mtr

Ensembl Gene

ENSMUSG00000021311

Gene Name

5-methyltetrahydrofolate-homocysteine methyltransferase

Synonyms

methionine synthase, D830038K18Rik, MS

MMRRC Submission

041915-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4655 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12197598-12272999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12242679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 457 (V457A)

Ref Sequence

ENSEMBL: ENSMUSP00000097442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099856] [ENSMUST00000221290]

AlphaFold

A6H5Y3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099856
AA Change: V457A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097442
Gene: ENSMUSG00000021311
AA Change: V457A

Domain	Start	End	E-Value	Type
Pfam:S-methyl_trans	18	326	1.5e-93	PFAM
Pfam:Pterin_bind	363	601	4.6e-63	PFAM
B12-binding_2	657	743	6.42e-41	SMART
Pfam:B12-binding	761	861	3.3e-20	PFAM
Pfam:Met_synt_B12	953	1234	2.5e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221290

Meta Mutation Damage Score

0.9057

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (79/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5. Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Gene trapped(5)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,314,778 (GRCm39)	V300A	probably benign	Het
Aadacl4fm2	A	T	4: 144,281,645 (GRCm39)	F382L	probably benign	Het
Abca4	A	G	3: 121,941,147 (GRCm39)	N405S	possibly damaging	Het
Acsl3	A	G	1: 78,668,063 (GRCm39)	T212A	probably damaging	Het
Ahnak	A	G	19: 8,986,065 (GRCm39)	K2450E	probably damaging	Het
Akap9	G	A	5: 4,096,403 (GRCm39)	R2426H	probably benign	Het
Akr1c6	T	C	13: 4,499,428 (GRCm39)	V266A	probably damaging	Het
Ccs	A	G	19: 4,889,232 (GRCm39)	V11A	probably benign	Het
Cdc14a	T	A	3: 116,122,136 (GRCm39)	H228L	probably damaging	Het
Cgn	G	A	3: 94,686,559 (GRCm39)	Q248*	probably null	Het
Cux2	G	A	5: 122,023,997 (GRCm39)	T92M	possibly damaging	Het
Cyb5r4	A	G	9: 86,941,482 (GRCm39)	K68E	probably benign	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dnah9	T	C	11: 65,846,558 (GRCm39)	N2918S	probably benign	Het
Dyrk1b	T	C	7: 27,885,176 (GRCm39)	V438A	probably damaging	Het
Eml1	G	A	12: 108,500,972 (GRCm39)	D625N	probably damaging	Het
Eno2	T	C	6: 124,740,889 (GRCm39)		probably null	Het
Ephb3	G	A	16: 21,040,958 (GRCm39)	G672D	probably damaging	Het
Evx1	A	T	6: 52,291,182 (GRCm39)	D118V	probably damaging	Het
Fbxl13	A	G	5: 21,787,037 (GRCm39)	L300S	probably damaging	Het
Fbxo30	T	C	10: 11,166,837 (GRCm39)	F520L	probably damaging	Het
Flt3	G	A	5: 147,286,403 (GRCm39)	P728S	possibly damaging	Het
Gas2l2	T	C	11: 83,314,001 (GRCm39)	E437G	possibly damaging	Het
Gldc	A	T	19: 30,138,102 (GRCm39)		probably benign	Het
Gm18856	T	C	13: 14,140,232 (GRCm39)		probably benign	Het
Gm7358	A	T	17: 14,279,410 (GRCm39)		noncoding transcript	Het
Grifin	A	G	5: 140,550,300 (GRCm39)	V47A	possibly damaging	Het
H3c7	T	C	13: 23,728,923 (GRCm39)	V90A	probably benign	Het
Hddc2	G	T	10: 31,204,016 (GRCm39)		probably benign	Het
Hkdc1	T	A	10: 62,236,242 (GRCm39)	R433S	probably benign	Het
Htt	A	G	5: 35,063,476 (GRCm39)	D2918G	probably benign	Het
Itga2	A	C	13: 115,009,805 (GRCm39)	D383E	probably benign	Het
Itpr1	G	A	6: 108,458,254 (GRCm39)	C2007Y	probably damaging	Het
Krt42	C	A	11: 100,160,671 (GRCm39)	Q9H	probably damaging	Het
Lyrm7	T	C	11: 54,739,434 (GRCm39)	Q72R	probably damaging	Het
Mmp9	A	G	2: 164,793,122 (GRCm39)	S424G	probably benign	Het
Myo15b	T	C	11: 115,781,523 (GRCm39)	L1359P	probably damaging	Het
Neb	A	G	2: 52,117,311 (GRCm39)	L4087P	probably damaging	Het
Npl	T	C	1: 153,391,152 (GRCm39)	D201G	probably damaging	Het
Or1af1	A	G	2: 37,109,885 (GRCm39)	N128S	probably benign	Het
Or8b1c	C	A	9: 38,384,120 (GRCm39)	P26T	probably damaging	Het
Or8k3	A	G	2: 86,059,037 (GRCm39)	S93P	probably benign	Het
Pclo	T	C	5: 14,732,397 (GRCm39)		probably benign	Het
Pdp2	A	G	8: 105,321,168 (GRCm39)	D339G	probably benign	Het
Pfdn6	A	T	17: 34,159,014 (GRCm39)	Y16*	probably null	Het
Pilra	C	T	5: 137,833,588 (GRCm39)		probably null	Het
Prrc2a	A	T	17: 35,374,590 (GRCm39)	N1353K	probably benign	Het
Prss3l	T	A	6: 41,422,984 (GRCm39)	I6F	probably benign	Het
Ptger4	C	A	15: 5,272,545 (GRCm39)	A50S	probably benign	Het
Pus10	T	C	11: 23,622,707 (GRCm39)	V109A	probably benign	Het
Pus3	A	C	9: 35,476,228 (GRCm39)	D39A	probably benign	Het
Rab44	A	G	17: 29,358,168 (GRCm39)	N119D	probably benign	Het
Rasgrp2	T	C	19: 6,454,876 (GRCm39)		probably benign	Het
Rhobtb2	T	A	14: 70,033,438 (GRCm39)	I511F	probably damaging	Het
Sfxn1	C	A	13: 54,246,457 (GRCm39)	A167D	probably benign	Het
Slc12a6	A	G	2: 112,188,111 (GRCm39)		probably null	Het
Smyd4	C	T	11: 75,281,558 (GRCm39)	L344F	probably damaging	Het
Srsf11	A	G	3: 157,728,972 (GRCm39)	V93A	probably benign	Het
Tle1	A	G	4: 72,063,581 (GRCm39)	I224T	possibly damaging	Het
Tmc6	A	T	11: 117,663,868 (GRCm39)	S479R	possibly damaging	Het
Tmprss4	T	C	9: 45,087,702 (GRCm39)	M296V	probably benign	Het
Togaram1	A	G	12: 65,013,894 (GRCm39)	N382D	possibly damaging	Het
Tpcn1	A	G	5: 120,677,322 (GRCm39)	S662P	probably damaging	Het
Tppp	G	T	13: 74,178,983 (GRCm39)	R141S	probably benign	Het
Ttc21a	A	G	9: 119,790,828 (GRCm39)	D858G	possibly damaging	Het
Tuba3a	A	G	6: 125,258,130 (GRCm39)	S287P	possibly damaging	Het
Unc80	T	G	1: 66,710,821 (GRCm39)	S2697A	probably benign	Het
Vmn1r69	A	G	7: 10,314,026 (GRCm39)	V235A	probably benign	Het
Vmn2r26	T	A	6: 124,038,375 (GRCm39)	I650N	probably damaging	Het
Vmn2r53	G	A	7: 12,315,932 (GRCm39)	T629I	possibly damaging	Het
Vmn2r74	T	C	7: 85,610,555 (GRCm39)	T46A	probably benign	Het
Vmn2r84	A	T	10: 130,229,973 (GRCm39)	C46*	probably null	Het
Vps13b	T	C	15: 35,770,835 (GRCm39)	S2093P	probably benign	Het
Wdfy4	T	C	14: 32,711,893 (GRCm39)	R2375G	probably damaging	Het
Wnk2	T	G	13: 49,210,359 (GRCm39)	E1820A	probably damaging	Het

Other mutations in Mtr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Mtr	APN	13	12,240,536 (GRCm39)	splice site	probably benign
IGL02456:Mtr	APN	13	12,213,980 (GRCm39)	missense	probably damaging	0.98
IGL02573:Mtr	APN	13	12,214,013 (GRCm39)	missense	possibly damaging	0.95
IGL02642:Mtr	APN	13	12,210,118 (GRCm39)	splice site	probably benign
IGL03005:Mtr	APN	13	12,250,335 (GRCm39)	splice site	probably benign
IGL03017:Mtr	APN	13	12,262,777 (GRCm39)	critical splice donor site	probably null
IGL03036:Mtr	APN	13	12,262,263 (GRCm39)	missense	probably damaging	1.00
H8930:Mtr	UTSW	13	12,250,346 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Mtr	UTSW	13	12,227,329 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Mtr	UTSW	13	12,212,871 (GRCm39)	nonsense	probably null
R0011:Mtr	UTSW	13	12,252,938 (GRCm39)	splice site	probably benign
R0047:Mtr	UTSW	13	12,237,112 (GRCm39)	missense	probably damaging	1.00
R0047:Mtr	UTSW	13	12,237,112 (GRCm39)	missense	probably damaging	1.00
R0304:Mtr	UTSW	13	12,237,040 (GRCm39)	critical splice donor site	probably null
R0617:Mtr	UTSW	13	12,236,318 (GRCm39)	missense	probably benign
R0842:Mtr	UTSW	13	12,215,133 (GRCm39)	missense	probably damaging	1.00
R1101:Mtr	UTSW	13	12,204,411 (GRCm39)	missense	possibly damaging	0.84
R1450:Mtr	UTSW	13	12,208,619 (GRCm39)	missense	probably damaging	0.99
R1534:Mtr	UTSW	13	12,250,430 (GRCm39)	splice site	probably benign
R1907:Mtr	UTSW	13	12,240,418 (GRCm39)	missense	probably damaging	1.00
R2111:Mtr	UTSW	13	12,259,487 (GRCm39)	missense	possibly damaging	0.86
R2354:Mtr	UTSW	13	12,203,043 (GRCm39)	splice site	probably benign
R3849:Mtr	UTSW	13	12,262,251 (GRCm39)	missense	probably benign	0.16
R3899:Mtr	UTSW	13	12,231,735 (GRCm39)	missense	probably benign	0.00
R4012:Mtr	UTSW	13	12,204,284 (GRCm39)	missense	probably damaging	1.00
R4012:Mtr	UTSW	13	12,204,283 (GRCm39)	missense	probably damaging	1.00
R4075:Mtr	UTSW	13	12,230,298 (GRCm39)	critical splice donor site	probably null
R4091:Mtr	UTSW	13	12,245,943 (GRCm39)	missense	probably damaging	1.00
R4801:Mtr	UTSW	13	12,210,137 (GRCm39)	missense	probably benign	0.01
R4802:Mtr	UTSW	13	12,210,137 (GRCm39)	missense	probably benign	0.01
R4895:Mtr	UTSW	13	12,231,752 (GRCm39)	missense	probably benign	0.01
R5481:Mtr	UTSW	13	12,203,041 (GRCm39)	critical splice acceptor site	probably null
R5966:Mtr	UTSW	13	12,230,453 (GRCm39)	critical splice acceptor site	probably null
R6209:Mtr	UTSW	13	12,205,278 (GRCm39)	missense	probably benign	0.00
R6348:Mtr	UTSW	13	12,262,840 (GRCm39)	missense	possibly damaging	0.49
R6463:Mtr	UTSW	13	12,231,752 (GRCm39)	missense	probably benign	0.01
R6467:Mtr	UTSW	13	12,202,992 (GRCm39)	missense	probably damaging	1.00
R7046:Mtr	UTSW	13	12,205,095 (GRCm39)	missense	possibly damaging	0.58
R7505:Mtr	UTSW	13	12,236,362 (GRCm39)	missense	probably benign	0.02
R7575:Mtr	UTSW	13	12,213,963 (GRCm39)	missense	probably benign	0.01
R7705:Mtr	UTSW	13	12,264,782 (GRCm39)	missense	probably benign
R7748:Mtr	UTSW	13	12,242,725 (GRCm39)	missense	probably benign	0.00
R8161:Mtr	UTSW	13	12,236,372 (GRCm39)	missense	probably damaging	0.99
R8290:Mtr	UTSW	13	12,205,139 (GRCm39)	missense	probably damaging	1.00
R8988:Mtr	UTSW	13	12,250,365 (GRCm39)	missense	probably benign
R9050:Mtr	UTSW	13	12,231,748 (GRCm39)	missense	probably null	0.67
R9420:Mtr	UTSW	13	12,268,764 (GRCm39)	missense	probably benign	0.04
R9655:Mtr	UTSW	13	12,203,030 (GRCm39)	missense	probably damaging	1.00
X0064:Mtr	UTSW	13	12,265,543 (GRCm39)	missense	probably damaging	1.00
Z1177:Mtr	UTSW	13	12,264,752 (GRCm39)	nonsense	probably null
Z1177:Mtr	UTSW	13	12,201,935 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- CGGACATCTTTCTCACTGCG -3'
(R):5'- GCATAGTCTCCTGTGAGCTG -3'

Sequencing Primer
(F):5'- ACTGCGTTCTCACCTGGGTG -3'
(R):5'- ATAGTCTCCTGTGAGCTGATCTTAC -3'

Posted On

2015-10-08