Mutagenetix > Incidental Mutation

Incidental Mutation 'R4457:Cmtr2'

329954

Institutional Source

Beutler Lab

Gene Symbol

Cmtr2

Ensembl Gene

ENSMUSG00000046441

Gene Name

cap methyltransferase 2

Synonyms

Ftsjd1, C730036L12Rik

MMRRC Submission

041717-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4457 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110215665-110224486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110222252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 398 (D398G)

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: D398G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000060558
Gene: ENSMUSG00000046441
AA Change: D398G

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

0.2961

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	A	G	16: 90,554,372		noncoding transcript	Het
1700025G04Rik	T	C	1: 151,921,054	R87G	probably damaging	Het
9030619P08Rik	T	A	15: 75,431,400		noncoding transcript	Het
Akap13	A	G	7: 75,739,465	D2377G	probably damaging	Het
Arhgef5	T	C	6: 43,274,093	S593P	probably damaging	Het
Atp4a	G	A	7: 30,720,225	R671Q	probably benign	Het
Cdkn2d	C	G	9: 21,290,889	V21L	probably benign	Het
Cfap73	T	C	5: 120,630,150	K181R	possibly damaging	Het
Chn1	A	G	2: 73,613,083	I383T	probably damaging	Het
Dnah12	T	C	14: 26,815,507	Y2238H	probably damaging	Het
Dnah7c	A	G	1: 46,740,621	N3161S	probably damaging	Het
Dnah8	C	A	17: 30,813,151	H4148Q	probably benign	Het
Ehbp1l1	T	C	19: 5,716,293	S397G	possibly damaging	Het
Eya4	A	T	10: 23,116,668	S462R	probably damaging	Het
Fam227b	T	A	2: 126,146,268		probably benign	Het
Frrs1	G	A	3: 116,896,728	V7I	probably benign	Het
Fsip2	G	T	2: 82,990,776	A5618S	possibly damaging	Het
Gja10	A	T	4: 32,601,073	M437K	probably benign	Het
Gm2840	T	G	5: 96,174,328		noncoding transcript	Het
Gm4956	A	G	1: 21,298,095		noncoding transcript	Het
Gria4	A	G	9: 4,427,074	W789R	probably damaging	Het
Hoxb5	A	G	11: 96,303,720	D36G	probably damaging	Het
Hps5	A	T	7: 46,783,613	C228S	probably benign	Het
Hspa4	A	T	11: 53,280,568	C270S	probably damaging	Het
Htra4	C	A	8: 25,038,658	A73S	possibly damaging	Het
Ikzf2	T	C	1: 69,684,188		probably benign	Het
Ivl	G	A	3: 92,572,366	H131Y	probably benign	Het
Kat6a	A	G	8: 22,932,113		probably null	Het
Lamp3	T	A	16: 19,673,529	M322L	probably benign	Het
Letmd1	T	C	15: 100,475,130	V37A	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myh1	G	A	11: 67,220,615	G1627R	probably benign	Het
Myo9b	A	G	8: 71,290,999	I235V	probably damaging	Het
Ndor1	A	G	2: 25,248,116		probably null	Het
Ndufa12	A	T	10: 94,220,818	K136M	probably damaging	Het
Olfr1174-ps	A	G	2: 88,310,829		probably benign	Het
Olfr1251	A	T	2: 89,667,083	S268T	probably benign	Het
Olfr331	A	G	11: 58,502,118	L146P	probably damaging	Het
Olfr577	C	T	7: 102,973,527	S155N	probably damaging	Het
Pcdha2	A	G	18: 36,940,546	D410G	probably damaging	Het
Pcyox1l	T	A	18: 61,697,868	N311I	probably benign	Het
Pif1	A	G	9: 65,587,776		probably benign	Het
Pkp1	CTCTTCTT	CTCTT	1: 135,875,624		probably null	Het
Pogz	G	A	3: 94,856,063	V49I	probably benign	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rnf4	A	G	5: 34,351,361	Y189C	probably benign	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Sgms2	A	C	3: 131,325,016	Y273D	probably damaging	Het
Slc25a10	G	A	11: 120,497,089	V203I	probably benign	Het
Slc4a2	T	A	5: 24,434,330		probably benign	Het
Tbc1d13	A	G	2: 30,135,438		probably benign	Het
Tdrd7	A	G	4: 46,007,526	N526S	probably benign	Het
Tet2	C	T	3: 133,485,563	D1037N	possibly damaging	Het
Thrb	T	A	14: 18,011,187	W188R	probably damaging	Het
Ttn	T	C	2: 76,946,913	M1382V	probably benign	Het
Usp9y	T	A	Y: 1,394,078	I551L	possibly damaging	Het
Vwde	T	C	6: 13,196,101	I308M	probably damaging	Het
Zan	T	C	5: 137,411,516	I3488V	unknown	Het
Zgrf1	A	T	3: 127,595,929	I375F	probably damaging	Het
Zic4	A	G	9: 91,379,262	K183R	probably damaging	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
R1512:Cmtr2	UTSW	8	110222635	missense	probably damaging	0.99
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
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'- GATGGTGTTGAACTTCGGCAC -3'
(R):5'- TCCTCTGCCCAACTATTGAAG -3'

Sequencing Primer
(F):5'- TTGAACTTCGGCACTGAGATGAC -3'
(R):5'- GGCTACTTTATCCTTCCATGAAAGGG -3'

Posted On

2015-07-21