Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4431001:Mtr'

555268

Institutional Source

Beutler Lab

Gene Symbol

Mtr

Ensembl Gene

ENSMUSG00000021311

Gene Name

5-methyltetrahydrofolate-homocysteine methyltransferase

Synonyms

methionine synthase, D830038K18Rik, MS

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4431001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12197598-12272999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12227329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 772 (V772M)

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: V772M

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

SMART Domains

Protein: ENSMUSP00000097442
Gene: ENSMUSG00000021311
AA Change: V772M

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

Coding Region Coverage

1x: 93.2%
3x: 90.7%
10x: 84.7%
20x: 71.4%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	A	G	5: 146,439,322 (GRCm39)	I29V	probably benign	Het
5730455P16Rik	C	A	11: 80,254,750 (GRCm39)	C357F	probably damaging	Het
Actr1a	A	T	19: 46,370,731 (GRCm39)		probably null	Het
Adcy1	C	G	11: 7,014,089 (GRCm39)	Q164E	possibly damaging	Het
Arhgap35	A	T	7: 16,295,536 (GRCm39)	S1176R	possibly damaging	Het
Atad2b	A	G	12: 5,081,795 (GRCm39)	T1235A	possibly damaging	Het
Atosb	C	A	4: 43,036,024 (GRCm39)	G236C	probably damaging	Het
Atp8a2	T	C	14: 59,892,075 (GRCm39)	D1091G	probably benign	Het
Bmp6	T	C	13: 38,669,906 (GRCm39)	S397P	probably benign	Het
C3	A	T	17: 57,513,242 (GRCm39)	N1468K	probably benign	Het
Ccnjl	CGCG	CGCGGCG	11: 43,470,534 (GRCm39)		probably benign	Het
Ccr1	T	C	9: 123,764,231 (GRCm39)	I100V	probably benign	Het
Cep162	T	A	9: 87,126,398 (GRCm39)	R171S	probably benign	Het
Chd8	T	C	14: 52,455,706 (GRCm39)	H994R	probably damaging	Het
Cntn3	T	A	6: 102,441,527 (GRCm39)	K6N	probably benign	Het
Cope	A	G	8: 70,765,417 (GRCm39)	E289G	probably damaging	Het
Cpne8	T	G	15: 90,436,178 (GRCm39)	E279A	probably damaging	Het
Cyp11a1	A	T	9: 57,923,555 (GRCm39)		probably null	Het
Dcp2	A	G	18: 44,545,638 (GRCm39)	K333R	probably benign	Het
Dpp6	G	T	5: 27,836,496 (GRCm39)	V329F	probably benign	Het
Drc1	T	A	5: 30,504,417 (GRCm39)	D186E	probably damaging	Het
Dsc2	G	A	18: 20,179,334 (GRCm39)	Q245*	probably null	Het
Eef1e1	T	C	13: 38,842,938 (GRCm39)	E11G	probably damaging	Het
Emilin2	G	A	17: 71,562,990 (GRCm39)	P915S	probably benign	Het
Fpgt	A	G	3: 154,792,422 (GRCm39)	M535T	possibly damaging	Het
Fxyd3	G	A	7: 30,770,780 (GRCm39)	L37F	probably damaging	Het
Gal3st2c	T	A	1: 93,935,834 (GRCm39)	I62N	probably damaging	Het
Gdpd3	T	C	7: 126,365,647 (GRCm39)	I2T	probably benign	Het
Gm9611	T	C	14: 42,115,888 (GRCm39)	M169V		Het
Ints3	G	A	3: 90,303,767 (GRCm39)	T720I	probably damaging	Het
Itpr2	T	G	6: 146,256,218 (GRCm39)	M992L	probably benign	Het
L3mbtl2	T	A	15: 81,560,508 (GRCm39)	H256Q	probably benign	Het
Lama2	T	C	10: 26,977,426 (GRCm39)	T1918A	probably damaging	Het
Lpcat2b	G	A	5: 107,581,997 (GRCm39)	G442D	probably damaging	Het
Lrp1b	C	T	2: 40,894,767 (GRCm39)	V2268M		Het
Macc1	T	C	12: 119,410,246 (GRCm39)	L338P	probably benign	Het
Mtmr2	T	C	9: 13,704,475 (GRCm39)	F201L	probably benign	Het
Mtus2	A	G	5: 148,013,515 (GRCm39)	T103A	probably benign	Het
Myo5c	A	G	9: 75,159,853 (GRCm39)	I294V	possibly damaging	Het
Ncam1	A	T	9: 49,709,993 (GRCm39)	F13I	probably benign	Het
Or4a75	T	C	2: 89,448,201 (GRCm39)	I112V	probably benign	Het
Paqr6	A	T	3: 88,273,084 (GRCm39)	I52F	possibly damaging	Het
Pde2a	T	G	7: 101,151,104 (GRCm39)	V271G	probably damaging	Het
Pde7b	T	C	10: 20,276,291 (GRCm39)	H405R	possibly damaging	Het
Plxnb1	A	G	9: 108,929,786 (GRCm39)	Y214C	probably damaging	Het
Pmp22	T	C	11: 63,042,067 (GRCm39)	F101L	probably benign	Het
Pold1	A	G	7: 44,188,318 (GRCm39)	L520P	probably damaging	Het
Pramel1	A	G	4: 143,124,960 (GRCm39)	T295A	possibly damaging	Het
Psg20	A	T	7: 18,408,475 (GRCm39)	I415N	probably damaging	Het
Ptcd2	T	A	13: 99,476,527 (GRCm39)	R71*	probably null	Het
Ptgs1	A	T	2: 36,130,692 (GRCm39)	N197I	probably damaging	Het
Rbfox3	T	C	11: 118,386,047 (GRCm39)	D333G	probably damaging	Het
Rfx7	T	A	9: 72,525,253 (GRCm39)	H814Q	probably benign	Het
Rptn	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	3: 93,304,704 (GRCm39)		probably benign	Het
Serpina3i	A	T	12: 104,231,432 (GRCm39)	H23L	probably benign	Het
Sipa1l1	T	A	12: 82,443,290 (GRCm39)	V860E	probably benign	Het
Slc12a1	T	A	2: 125,032,124 (GRCm39)	Y592N	possibly damaging	Het
Slco2a1	T	C	9: 102,927,467 (GRCm39)	F120S	probably damaging	Het
Smyd4	T	C	11: 75,294,339 (GRCm39)	F740S	probably damaging	Het
Sppl2a	T	C	2: 126,765,396 (GRCm39)	Y242C	probably damaging	Het
Sqle	A	G	15: 59,195,509 (GRCm39)	K288R	probably benign	Het
Tbc1d17	A	G	7: 44,494,498 (GRCm39)	S246P	probably benign	Het
Tenm3	G	A	8: 48,688,642 (GRCm39)	T2315M	probably damaging	Het
Tgfb1i1	C	T	7: 127,848,353 (GRCm39)	R191C	probably damaging	Het
Thumpd3	T	A	6: 113,036,939 (GRCm39)	N279K	probably benign	Het
Tmed5	T	A	5: 108,277,887 (GRCm39)	H95L	possibly damaging	Het
Tmem161a	T	C	8: 70,634,674 (GRCm39)	L443P	probably damaging	Het
Ttc38	C	A	15: 85,720,328 (GRCm39)	Q97K	probably benign	Het
Unc13c	C	A	9: 73,656,829 (GRCm39)	C1124F	probably damaging	Het
Vmn2r102	A	G	17: 19,896,958 (GRCm39)	T102A	possibly damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Xkr5	A	T	8: 18,984,361 (GRCm39)	S394T	possibly damaging	Het
Zan	C	T	5: 137,390,326 (GRCm39)	C4747Y	unknown	Het
Zfp804a	T	C	2: 82,089,536 (GRCm39)	F1122L	probably benign	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
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
R4655:Mtr	UTSW	13	12,242,679 (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'- GACCCCTAGAGATTACTTCCCATTC -3'
(R):5'- ACCTCATCAGTAAAGCGTTGATG -3'

Sequencing Primer
(F):5'- GTCCTTTAACACATACGTAAGAGAC -3'
(R):5'- CGTTGATGTAAGGCGTCACCAG -3'

Posted On

2019-06-07