Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00818:Cmtr2'

10842

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cmtr2

Ensembl Gene

ENSMUSG00000046441

Gene Name

cap methyltransferase 2

Synonyms

Ftsjd1, C730036L12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00818

Quality Score

Status

Chromosome

Chromosomal Location

110942297-110951118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110949732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 681 (T681S)

Ref Sequence

ENSEMBL: ENSMUSP00000060558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056972] [ENSMUST00000189685]

AlphaFold

Q8BWQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000056972
AA Change: T681S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000060558
Gene: ENSMUSG00000046441
AA Change: T681S

Domain	Start	End	E-Value	Type
Pfam:FtsJ	110	320	1.7e-28	PFAM
low complexity region	550	559	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189685

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,259,475 (GRCm39)	T700A	probably benign	Het
Brinp1	T	A	4: 68,681,084 (GRCm39)	D482V	probably damaging	Het
Dcc	T	A	18: 72,088,083 (GRCm39)	M52L	probably benign	Het
Echdc1	A	G	10: 29,193,616 (GRCm39)	I38V	probably benign	Het
Gars1	G	T	6: 55,027,338 (GRCm39)	G144V	probably damaging	Het
Gp2	T	C	7: 119,049,350 (GRCm39)	T396A	possibly damaging	Het
Gpatch1	T	C	7: 34,976,238 (GRCm39)		probably null	Het
Mfap4	A	T	11: 61,378,607 (GRCm39)	Q209L	possibly damaging	Het
Pdcd2l	A	T	7: 33,884,158 (GRCm39)	M348K	possibly damaging	Het
Prkdc	A	T	16: 15,577,618 (GRCm39)	T2391S	possibly damaging	Het
Rxrg	C	T	1: 167,454,857 (GRCm39)		probably benign	Het
Serpinb2	A	G	1: 107,452,466 (GRCm39)	D348G	probably benign	Het
Tbc1d30	G	A	10: 121,102,729 (GRCm39)		probably benign	Het
Tmtc3	T	A	10: 100,307,342 (GRCm39)	T221S	probably benign	Het
Tro	C	T	X: 149,431,357 (GRCm39)	G1203D	probably damaging	Het
Ttn	T	A	2: 76,552,092 (GRCm39)	T31182S	probably damaging	Het
Zranb3	T	C	1: 127,960,604 (GRCm39)	Y220C	probably damaging	Het

Other mutations in Cmtr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Cmtr2	APN	8	110,949,501 (GRCm39)	missense	possibly damaging	0.65
IGL01286:Cmtr2	APN	8	110,949,484 (GRCm39)	missense	possibly damaging	0.95
IGL01916:Cmtr2	APN	8	110,948,580 (GRCm39)	missense	probably benign	0.01
IGL02302:Cmtr2	APN	8	110,948,136 (GRCm39)	missense	probably damaging	1.00
IGL02426:Cmtr2	APN	8	110,948,322 (GRCm39)	missense	possibly damaging	0.65
IGL02903:Cmtr2	APN	8	110,949,510 (GRCm39)	missense	probably benign	0.02
PIT4362001:Cmtr2	UTSW	8	110,948,968 (GRCm39)	missense	probably damaging	0.99
R1435:Cmtr2	UTSW	8	110,947,711 (GRCm39)	missense	probably benign
R1501:Cmtr2	UTSW	8	110,948,235 (GRCm39)	missense	probably benign	0.29
R1512:Cmtr2	UTSW	8	110,949,267 (GRCm39)	missense	probably damaging	0.99
R1709:Cmtr2	UTSW	8	110,948,581 (GRCm39)	missense	probably benign	0.31
R1715:Cmtr2	UTSW	8	110,949,430 (GRCm39)	missense	probably damaging	1.00
R1953:Cmtr2	UTSW	8	110,948,551 (GRCm39)	missense	probably damaging	1.00
R1960:Cmtr2	UTSW	8	110,948,382 (GRCm39)	missense	probably damaging	1.00
R2422:Cmtr2	UTSW	8	110,949,413 (GRCm39)	missense	probably benign	0.02
R3717:Cmtr2	UTSW	8	110,948,386 (GRCm39)	missense	probably damaging	0.96
R4043:Cmtr2	UTSW	8	110,948,462 (GRCm39)	nonsense	probably null
R4074:Cmtr2	UTSW	8	110,947,849 (GRCm39)	missense	possibly damaging	0.83
R4179:Cmtr2	UTSW	8	110,947,669 (GRCm39)	splice site	probably null
R4457:Cmtr2	UTSW	8	110,948,884 (GRCm39)	missense	probably benign	0.02
R4945:Cmtr2	UTSW	8	110,948,065 (GRCm39)	missense	probably damaging	0.99
R5371:Cmtr2	UTSW	8	110,948,044 (GRCm39)	missense	probably damaging	1.00
R6753:Cmtr2	UTSW	8	110,949,611 (GRCm39)	missense	probably damaging	1.00
R7231:Cmtr2	UTSW	8	110,949,178 (GRCm39)	missense	probably benign	0.02
R7527:Cmtr2	UTSW	8	110,948,770 (GRCm39)	missense	probably damaging	1.00
R7580:Cmtr2	UTSW	8	110,948,309 (GRCm39)	missense	probably damaging	0.99
R7808:Cmtr2	UTSW	8	110,948,251 (GRCm39)	missense	possibly damaging	0.88
R8510:Cmtr2	UTSW	8	110,949,067 (GRCm39)	missense	possibly damaging	0.53
R8690:Cmtr2	UTSW	8	110,948,977 (GRCm39)	missense	probably benign	0.00
R9172:Cmtr2	UTSW	8	110,948,761 (GRCm39)	missense	probably damaging	1.00
R9282:Cmtr2	UTSW	8	110,948,977 (GRCm39)	missense	probably benign
R9307:Cmtr2	UTSW	8	110,949,712 (GRCm39)	missense	probably benign	0.06
R9342:Cmtr2	UTSW	8	110,949,078 (GRCm39)	missense	possibly damaging	0.92
Z1177:Cmtr2	UTSW	8	110,948,131 (GRCm39)	frame shift	probably null

Posted On

2012-12-06