Mutagenetix > Incidental Mutation

Incidental Mutation 'R1512:Cmtr2'

168418

Institutional Source

Beutler Lab

Gene Symbol

Cmtr2

Ensembl Gene

ENSMUSG00000046441

Gene Name

cap methyltransferase 2

Synonyms

Ftsjd1, C730036L12Rik

MMRRC Submission

039559-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110215665-110224486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110222635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 526 (S526P)

Ref Sequence

ENSEMBL: ENSMUSP00000060558 (fasta)

Gene Model

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

AlphaFold

Q8BWQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000056972
AA Change: S526P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060558
Gene: ENSMUSG00000046441
AA Change: S526P

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

Meta Mutation Damage Score

0.0849

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

95% (79/83)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,195,469	D40E	probably benign	Het
Acsf2	C	T	11: 94,561,398		probably benign	Het
Adamts19	C	T	18: 59,048,845	H1119Y	possibly damaging	Het
Akap6	A	G	12: 52,937,154	D827G	probably damaging	Het
Ankrd33b	T	C	15: 31,367,229	D55G	probably damaging	Het
Ano5	T	A	7: 51,579,568	H569Q	probably benign	Het
Aox2	A	G	1: 58,307,351	D548G	probably benign	Het
Baz2a	A	G	10: 128,124,152	D1433G	possibly damaging	Het
BC031181	T	G	18: 75,008,696	V8G	probably damaging	Het
Bicdl2	A	T	17: 23,668,109	M457L	probably damaging	Het
C130074G19Rik	T	C	1: 184,882,906	D29G	probably damaging	Het
Cd200r1	A	T	16: 44,766,027	T7S	probably benign	Het
Cdc37	A	G	9: 21,142,416		probably benign	Het
Cntn2	G	T	1: 132,523,692	A433D	probably damaging	Het
Cntnap5a	T	C	1: 115,900,950	S35P	probably benign	Het
Csf3r	A	G	4: 126,029,984	T96A	possibly damaging	Het
Ctbs	A	G	3: 146,454,965	N96D	probably benign	Het
Cyp26b1	C	A	6: 84,576,997	V213L	probably benign	Het
Dach1	A	G	14: 97,901,399	L536P	probably damaging	Het
Dcaf6	T	C	1: 165,352,020	Q517R	probably benign	Het
Dnah1	G	T	14: 31,293,037	Q1733K	probably damaging	Het
Dnah17	A	T	11: 118,095,015	I1416N	probably benign	Het
Dock11	G	A	X: 36,020,035	R1102H	probably damaging	Het
Dpp8	T	C	9: 65,063,814		probably benign	Het
Emc1	G	A	4: 139,360,184		probably null	Het
Emc8	A	G	8: 120,658,244	L76P	possibly damaging	Het
Emx2	T	C	19: 59,459,603	Y130H	possibly damaging	Het
Fbf1	C	T	11: 116,147,927	R815Q	probably damaging	Het
Foxb2	G	A	19: 16,872,514	P376L	probably damaging	Het
Gabrb1	C	A	5: 72,108,704	L202I	probably damaging	Het
Gabrb1	T	A	5: 72,108,705	L202Q	probably damaging	Het
Grin2c	T	A	11: 115,253,850	I617F	probably damaging	Het
Gtf2h3	T	A	5: 124,590,870	V164E	probably damaging	Het
Gusb	T	C	5: 130,000,890	Q88R	probably damaging	Het
Hormad2	T	A	11: 4,424,788	K75N	probably damaging	Het
Il33	A	G	19: 29,951,990	T38A	possibly damaging	Het
Ivns1abp	A	T	1: 151,360,936	Q416L	possibly damaging	Het
Ivns1abp	G	C	1: 151,360,937	Q416H	probably benign	Het
Kcnh5	T	A	12: 75,119,937	H178L	probably benign	Het
Kif21b	A	G	1: 136,152,805	N579S	probably benign	Het
Kif26a	G	C	12: 112,146,955	R95P	possibly damaging	Het
Kl	A	G	5: 150,988,597	I604V	probably benign	Het
Klhl24	A	G	16: 20,122,936	K545E	probably damaging	Het
Mcm3ap	A	G	10: 76,470,513	I153M	probably damaging	Het
Meis1	T	G	11: 18,881,682	D452A	probably damaging	Het
Msantd4	C	T	9: 4,384,138	P153L	probably benign	Het
Myot	A	G	18: 44,342,355	E181G	probably damaging	Het
Nf1	T	C	11: 79,390,369	F150S	probably damaging	Het
Nyap2	T	A	1: 81,241,851	S529R	probably damaging	Het
Olfr1145	A	T	2: 87,810,644	T275S	probably benign	Het
Olfr1386	A	G	11: 49,470,459	I103V	probably benign	Het
Olfr923	T	A	9: 38,828,364	Y224*	probably null	Het
Olfr958	T	C	9: 39,550,094	Y259C	probably damaging	Het
Pcnt	C	T	10: 76,404,662		probably null	Het
Pik3c3	T	C	18: 30,322,236		probably null	Het
Pkdcc	A	T	17: 83,220,044	Y217F	possibly damaging	Het
Pnpla6	C	A	8: 3,535,459		probably benign	Het
Polr3gl	T	C	3: 96,580,874	M26V	probably benign	Het
Ppp1r13b	T	C	12: 111,872,408	N12S	possibly damaging	Het
Ppp1r26	G	A	2: 28,451,516	R386K	probably benign	Het
Prdm10	A	G	9: 31,337,401	E355G	probably damaging	Het
Prex2	T	C	1: 11,061,330	F41S	possibly damaging	Het
Prkar1b	G	T	5: 139,050,673	Y231*	probably null	Het
Prkdc	A	T	16: 15,687,404	I857L	probably benign	Het
Psg21	A	T	7: 18,656,500	N10K	probably benign	Het
Rapgef3	A	T	15: 97,757,501	V444E	probably benign	Het
Rnf17	A	T	14: 56,467,786	T716S	probably benign	Het
Rps6ka1	C	T	4: 133,851,004	R577H	probably damaging	Het
Scn1a	A	C	2: 66,331,285	N306K	possibly damaging	Het
Skint6	A	G	4: 113,238,132	I110T	probably damaging	Het
Ssu2	A	G	6: 112,387,998	M1T	probably null	Het
Stag3	A	T	5: 138,297,985	T437S	probably benign	Het
Tal2	A	G	4: 53,786,107	Y96C	probably benign	Het
Thoc3	A	T	13: 54,466,178		probably null	Het
Tle1	T	C	4: 72,141,258	D19G	probably damaging	Het
Trpm4	A	G	7: 45,315,044	I690T	probably benign	Het
Trpm6	A	T	19: 18,875,931	M1772L	probably benign	Het
Unc5b	G	A	10: 60,831,475		probably benign	Het
Usf3	G	T	16: 44,221,198	V2014F	probably damaging	Het
Utp18	C	T	11: 93,885,564	A32T	probably benign	Het
Wdfy4	A	G	14: 32,960,808	V2981A	probably damaging	Het
Zfp608	A	G	18: 54,946,666	V349A	probably damaging	Het
Znfx1	A	C	2: 167,056,317	I229S	probably benign	Het

Other mutations in Cmtr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Cmtr2	APN	8	110223100	missense	probably benign	0.02
IGL01068:Cmtr2	APN	8	110222869	missense	possibly damaging	0.65
IGL01286:Cmtr2	APN	8	110222852	missense	possibly damaging	0.95
IGL01916:Cmtr2	APN	8	110221948	missense	probably benign	0.01
IGL02302:Cmtr2	APN	8	110221504	missense	probably damaging	1.00
IGL02426:Cmtr2	APN	8	110221690	missense	possibly damaging	0.65
IGL02903:Cmtr2	APN	8	110222878	missense	probably benign	0.02
PIT4362001:Cmtr2	UTSW	8	110222336	missense	probably damaging	0.99
R1435:Cmtr2	UTSW	8	110221079	missense	probably benign
R1501:Cmtr2	UTSW	8	110221603	missense	probably benign	0.29
R1709:Cmtr2	UTSW	8	110221949	missense	probably benign	0.31
R1715:Cmtr2	UTSW	8	110222798	missense	probably damaging	1.00
R1953:Cmtr2	UTSW	8	110221919	missense	probably damaging	1.00
R1960:Cmtr2	UTSW	8	110221750	missense	probably damaging	1.00
R2422:Cmtr2	UTSW	8	110222781	missense	probably benign	0.02
R3717:Cmtr2	UTSW	8	110221754	missense	probably damaging	0.96
R4043:Cmtr2	UTSW	8	110221830	nonsense	probably null
R4074:Cmtr2	UTSW	8	110221217	missense	possibly damaging	0.83
R4179:Cmtr2	UTSW	8	110221037	splice site	probably null
R4457:Cmtr2	UTSW	8	110222252	missense	probably benign	0.02
R4945:Cmtr2	UTSW	8	110221433	missense	probably damaging	0.99
R5371:Cmtr2	UTSW	8	110221412	missense	probably damaging	1.00
R6753:Cmtr2	UTSW	8	110222979	missense	probably damaging	1.00
R7231:Cmtr2	UTSW	8	110222546	missense	probably benign	0.02
R7527:Cmtr2	UTSW	8	110222138	missense	probably damaging	1.00
R7580:Cmtr2	UTSW	8	110221677	missense	probably damaging	0.99
R7808:Cmtr2	UTSW	8	110221619	missense	possibly damaging	0.88
R8510:Cmtr2	UTSW	8	110222435	missense	possibly damaging	0.53
R8690:Cmtr2	UTSW	8	110222345	missense	probably benign	0.00
R9172:Cmtr2	UTSW	8	110222129	missense	probably damaging	1.00
R9282:Cmtr2	UTSW	8	110222345	missense	probably benign
R9307:Cmtr2	UTSW	8	110223080	missense	probably benign	0.06
R9342:Cmtr2	UTSW	8	110222446	missense	possibly damaging	0.92
Z1177:Cmtr2	UTSW	8	110221499	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGAGGAACACACCGTCTATCATC -3'
(R):5'- TCACCATCGTGAAGCAGGGAACAG -3'

Sequencing Primer
(F):5'- TACCAGTCGTGGCAAGTCTT -3'
(R):5'- CACAAGCTGGATTTCCAGTG -3'

Posted On

2014-04-13