Mutagenetix > Incidental Mutation

Incidental Mutation 'R1501:Cmtr2'

169275

Institutional Source

Beutler Lab

Gene Symbol

Cmtr2

Ensembl Gene

ENSMUSG00000046441

Gene Name

cap methyltransferase 2

Synonyms

Ftsjd1, C730036L12Rik

MMRRC Submission

040867-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110215665-110224486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110221603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 182 (D182N)

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: D182N

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000060558
Gene: ENSMUSG00000046441
AA Change: D182N

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

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,513,347	S533R	probably benign	Het
Amph	C	T	13: 19,104,291	Q317*	probably null	Het
Bach2	A	G	4: 32,562,279	T249A	possibly damaging	Het
Cacna2d3	A	G	14: 28,981,180	C845R	probably damaging	Het
Calml4	A	G	9: 62,871,340	K12E	probably benign	Het
Chrd	C	T	16: 20,737,533	R615W	probably damaging	Het
Chst15	T	A	7: 132,269,069	K246*	probably null	Het
Cyp2d9	C	A	15: 82,454,324	C186*	probably null	Het
Cyp3a13	G	T	5: 137,911,630		probably null	Het
Dcaf17	A	T	2: 71,081,988	I320F	probably damaging	Het
Ddx10	T	C	9: 53,233,997	I227V	possibly damaging	Het
Dlc1	G	T	8: 36,938,148	N162K	probably benign	Het
Dnhd1	G	A	7: 105,668,463	R455H	probably benign	Het
Drg2	G	T	11: 60,464,853	A306S	probably benign	Het
Dsg1a	A	T	18: 20,332,019	R422S	probably damaging	Het
Ehbp1l1	A	G	19: 5,716,424	V353A	probably damaging	Het
Emilin2	T	C	17: 71,310,761	S34G	probably benign	Het
Enpp2	C	A	15: 54,839,514	W862L	probably damaging	Het
Exoc2	T	C	13: 30,935,502	I139V	probably benign	Het
Fhad1	C	T	4: 141,964,625	R400H	probably benign	Het
Fv1	C	T	4: 147,870,138	T387M	probably damaging	Het
Gatad1	T	A	5: 3,643,701	D156V	probably damaging	Het
Gm4744	A	G	6: 40,950,433		probably benign	Het
Gm4799	G	A	10: 82,954,635		noncoding transcript	Het
Hadha	A	G	5: 30,128,806	F405S	probably benign	Het
Ifit3	T	C	19: 34,588,251	V399A	probably benign	Het
Il1rapl1	G	T	X: 87,304,863	Y150*	probably null	Het
Kirrel	T	C	3: 87,090,472	E248G	probably benign	Het
Krt72	C	A	15: 101,778,334	K392N	probably damaging	Het
Loxhd1	G	A	18: 77,356,832	G309D	probably damaging	Het
Mc3r	T	G	2: 172,249,380	I174S	probably benign	Het
Me3	A	G	7: 89,633,065	D52G	probably benign	Het
Med12l	T	C	3: 59,260,835		probably null	Het
Mgat5	G	A	1: 127,397,641		probably null	Het
Mgea5	T	C	19: 45,778,640	D99G	probably null	Het
Mphosph10	A	T	7: 64,389,504	F239L	probably damaging	Het
Mrps7	T	C	11: 115,604,197	S13P	probably benign	Het
Nexn	T	C	3: 152,237,686	T527A	possibly damaging	Het
Nlrp1b	G	A	11: 71,156,059	H1156Y	probably damaging	Het
Nostrin	A	G	2: 69,158,785	E120G	probably damaging	Het
Nsun2	A	G	13: 69,631,587	E624G	probably damaging	Het
Olfr1189	G	A	2: 88,592,148	V115I	possibly damaging	Het
Olfr495	A	C	7: 108,396,082	K321Q	probably benign	Het
Olfr503	G	A	7: 108,544,575	V15I	probably benign	Het
Olfr730	A	G	14: 50,187,082	I45T	probably damaging	Het
Phldb2	T	C	16: 45,777,783	N802S	probably damaging	Het
Pik3c2g	T	C	6: 139,844,070		probably null	Het
Pikfyve	T	A	1: 65,265,284	I1670N	possibly damaging	Het
Pld5	A	G	1: 175,975,521	F393L	probably benign	Het
Plekhg1	C	A	10: 3,957,361	D759E	probably benign	Het
Plekhm1	A	G	11: 103,387,062	S403P	probably benign	Het
Pop1	T	C	15: 34,510,357	F432L	probably benign	Het
Ptpn13	T	C	5: 103,516,364	I406T	probably benign	Het
Ptpn5	G	T	7: 47,089,875	D185E	probably benign	Het
Rad50	G	T	11: 53,688,151	Q527K	possibly damaging	Het
Scn7a	A	G	2: 66,700,163	F613L	probably benign	Het
Sec16a	T	A	2: 26,440,045	M653L	probably benign	Het
Sh3bp2	T	C	5: 34,555,576		probably null	Het
Slc22a3	G	A	17: 12,507,104	T74I	probably benign	Het
Slc23a4	A	G	6: 34,955,122	L272P	probably damaging	Het
Slc26a8	T	C	17: 28,638,562	D869G	possibly damaging	Het
Slc5a11	T	A	7: 123,260,508	V291E	probably damaging	Het
Slc6a19	C	A	13: 73,684,048	A470S	probably benign	Het
Slfn8	A	G	11: 83,003,180	S878P	probably damaging	Het
Smchd1	A	G	17: 71,365,094	M1655T	possibly damaging	Het
Srgap2	A	G	1: 131,292,699	L179P	probably damaging	Het
Tbx2	A	G	11: 85,834,796	D191G	probably damaging	Het
Tenm3	A	G	8: 48,343,316	Y485H	probably damaging	Het
Trim12c	T	A	7: 104,340,888		probably benign	Het
Trpc6	A	G	9: 8,610,169	T213A	probably damaging	Het
Upp1	T	A	11: 9,134,708		probably null	Het
Vmn1r46	A	T	6: 89,976,216	I16L	probably benign	Het
Vmn2r75	A	T	7: 86,165,642	D214E	possibly damaging	Het
Vmn2r95	T	A	17: 18,439,856	Y177N	probably damaging	Het
Vmn2r99	T	G	17: 19,362,259	I42S	possibly damaging	Het
Zeb1	A	T	18: 5,761,399	K232N	possibly damaging	Het
Zfp280b	T	C	10: 76,039,769	I494T	probably damaging	Het
Zfp804a	A	G	2: 82,235,799	D38G	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
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
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'- CTCCCTGAACGAAGTGAAGAACCTC -3'
(R):5'- CCATCAGCCGTGACCAAGTGAATG -3'

Sequencing Primer
(F):5'- AATTCCAGGAGATCCTGTGC -3'
(R):5'- ATGGGAGACATGCCGCTG -3'

Posted On

2014-04-13