Mutagenetix > Incidental Mutation

Incidental Mutation 'R4396:Mettl2'

377710

Institutional Source

Beutler Lab

Gene Symbol

Mettl2

Ensembl Gene

ENSMUSG00000020691

Gene Name

methyltransferase 2, methylcytidine

Synonyms

PSENIP1, C130031G21Rik, 2810438F06Rik, D11Ertd768e

MMRRC Submission

041129-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R4396 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105017251-105031220 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105017604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 38 (D38G)

Ref Sequence

ENSEMBL: ENSMUSP00000021030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021030]

AlphaFold

Q8BMK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000021030
AA Change: D38G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021030
Gene: ENSMUSG00000020691
AA Change: D38G

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_23	150	337	1.2e-18	PFAM
Pfam:Ubie_methyltran	164	300	1.2e-8	PFAM
Pfam:MTS	166	291	4.3e-6	PFAM
Pfam:Methyltransf_31	171	331	1.6e-14	PFAM
Pfam:Methyltransf_18	173	286	2e-7	PFAM
Pfam:Methyltransf_25	177	279	7.6e-12	PFAM
Pfam:Methyltransf_12	178	281	1.1e-18	PFAM
Pfam:Methyltransf_11	178	283	5.7e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136214

Meta Mutation Damage Score

0.8374

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (52/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced 3-methylcytidine (m3C) methyltransferases modification of tRNA. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	C	7: 119,195,143 (GRCm39)	F552L	probably damaging	Het
Actn2	A	G	13: 12,325,765 (GRCm39)	L70P	probably damaging	Het
Btbd7	A	G	12: 102,751,552 (GRCm39)	S1071P	probably benign	Het
Cd200r1	T	A	16: 44,586,417 (GRCm39)	W16R	probably benign	Het
Cdhr2	A	G	13: 54,863,478 (GRCm39)	N120D	probably damaging	Het
Col19a1	T	C	1: 24,549,947 (GRCm39)	T317A	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dmbt1	T	C	7: 130,718,361 (GRCm39)	L1683P	probably damaging	Het
Dynll1	A	T	5: 115,438,700 (GRCm39)	C2S	probably benign	Het
Elp2	T	A	18: 24,742,707 (GRCm39)	S80T	probably damaging	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Fzd3	A	G	14: 65,473,054 (GRCm39)	I238T	probably damaging	Het
Galnt7	A	T	8: 57,991,215 (GRCm39)	F432I	probably damaging	Het
Gemin5	T	A	11: 58,030,375 (GRCm39)	T817S	probably benign	Het
Gm5414	T	G	15: 101,534,101 (GRCm39)	E294A	probably damaging	Het
H2-T5	C	A	17: 36,472,861 (GRCm39)		probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Kcnj4	C	A	15: 79,368,874 (GRCm39)	A369S	probably benign	Het
Llgl1	T	C	11: 60,596,834 (GRCm39)	V145A	probably benign	Het
Mdga1	T	C	17: 30,069,491 (GRCm39)	D185G	probably damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mpp4	T	C	1: 59,183,961 (GRCm39)	I260V	possibly damaging	Het
Mtcl1	T	C	17: 66,651,220 (GRCm39)	E1112G	probably damaging	Het
Mtus2	T	A	5: 148,140,748 (GRCm39)	N871K	possibly damaging	Het
Mylk	C	T	16: 34,732,645 (GRCm39)	Q642*	probably null	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Or4f57	A	G	2: 111,790,560 (GRCm39)	I286T	probably damaging	Het
Pdzd2	A	T	15: 12,387,732 (GRCm39)	D875E	probably benign	Het
Piezo1	G	T	8: 123,225,413 (GRCm39)	T557K	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Plxnb1	T	C	9: 108,929,291 (GRCm39)	V49A	possibly damaging	Het
Pramel6	A	T	2: 87,338,874 (GRCm39)	I25F	probably damaging	Het
Rreb1	C	T	13: 38,114,419 (GRCm39)	Q593*	probably null	Het
Scn8a	A	G	15: 100,870,711 (GRCm39)	N254S	probably damaging	Het
Scnn1g	T	G	7: 121,339,650 (GRCm39)	S150A	probably benign	Het
Sec24a	A	G	11: 51,605,991 (GRCm39)	F686L	possibly damaging	Het
Sirt1	T	C	10: 63,157,777 (GRCm39)	T546A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Traf5	A	T	1: 191,729,806 (GRCm39)	V415E	probably benign	Het
Traip	C	G	9: 107,836,686 (GRCm39)	T110S	probably benign	Het
Treml2	T	C	17: 48,615,142 (GRCm39)	V209A	probably benign	Het
Trpv5	T	C	6: 41,634,830 (GRCm39)	S500G	probably benign	Het
Usp32	G	A	11: 84,944,801 (GRCm39)	L296F	probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Zswim1	A	G	2: 164,667,369 (GRCm39)	D207G	probably damaging	Het

Other mutations in Mettl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Mettl2	APN	11	105,017,348 (GRCm39)	missense	probably benign	0.00
IGL01565:Mettl2	APN	11	105,017,364 (GRCm39)	missense	probably benign	0.00
R0071:Mettl2	UTSW	11	105,022,468 (GRCm39)	splice site	probably benign
R0726:Mettl2	UTSW	11	105,017,670 (GRCm39)	missense	probably benign
R0990:Mettl2	UTSW	11	105,028,570 (GRCm39)	nonsense	probably null
R1318:Mettl2	UTSW	11	105,028,597 (GRCm39)	nonsense	probably null
R1699:Mettl2	UTSW	11	105,030,544 (GRCm39)	missense	probably benign	0.02
R1885:Mettl2	UTSW	11	105,022,446 (GRCm39)	missense	possibly damaging	0.94
R1907:Mettl2	UTSW	11	105,017,666 (GRCm39)	missense	probably benign	0.00
R3706:Mettl2	UTSW	11	105,030,552 (GRCm39)	missense	probably benign
R4774:Mettl2	UTSW	11	105,017,436 (GRCm39)	splice site	probably null
R4876:Mettl2	UTSW	11	105,019,894 (GRCm39)	missense	probably damaging	0.99
R4955:Mettl2	UTSW	11	105,028,605 (GRCm39)	missense	possibly damaging	0.92
R6463:Mettl2	UTSW	11	105,023,407 (GRCm39)	critical splice donor site	probably null
R7058:Mettl2	UTSW	11	105,019,719 (GRCm39)	missense	probably benign
R7387:Mettl2	UTSW	11	105,023,364 (GRCm39)	missense	probably benign	0.42
R7934:Mettl2	UTSW	11	105,019,773 (GRCm39)	missense	probably benign	0.00
R8181:Mettl2	UTSW	11	105,019,866 (GRCm39)	missense	probably benign	0.11
R8546:Mettl2	UTSW	11	105,022,399 (GRCm39)	missense	probably benign	0.06
R8977:Mettl2	UTSW	11	105,019,791 (GRCm39)	missense	probably benign	0.09
R9085:Mettl2	UTSW	11	105,021,274 (GRCm39)	missense	possibly damaging	0.82
X0025:Mettl2	UTSW	11	105,030,539 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGTAACTGCCCTGCATCTC -3'
(R):5'- TTTGTTAGAAGACAGCCCCTTTGC -3'

Sequencing Primer
(F):5'- TGCATCTCGCCCGGCTC -3'
(R):5'- GGAGTTCTCCATCAGGTCAG -3'

Posted On

2016-03-21