Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Cmtr2'

316473

Institutional Source

Beutler Lab

Gene Symbol

Cmtr2

Ensembl Gene

ENSMUSG00000046441

Gene Name

cap methyltransferase 2

Synonyms

Ftsjd1, C730036L12Rik

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110215665-110224486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110221217 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 53 (F53Y)

Ref Sequence

ENSEMBL: ENSMUSP00000060558 (fasta)

Gene Model

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

AlphaFold

Q8BWQ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056972
AA Change: F53Y

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060558
Gene: ENSMUSG00000046441
AA Change: F53Y

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

0.1009

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,480,590 (GRCm38)	E422G	probably damaging	Het
5830473C10Rik	T	A	5: 90,592,868 (GRCm38)		probably null	Het
8430408G22Rik	A	G	6: 116,652,068 (GRCm38)	N124S	possibly damaging	Het
Ace3	A	G	11: 105,997,214 (GRCm38)	Y287C	probably damaging	Het
Arfgap3	C	T	15: 83,303,129 (GRCm38)	A510T	probably damaging	Het
Atg12	A	G	18: 46,737,424 (GRCm38)	F92L	probably benign	Het
Axl	A	G	7: 25,763,911 (GRCm38)		probably benign	Het
Chgb	C	A	2: 132,793,927 (GRCm38)	D596E	possibly damaging	Het
Cnot10	A	G	9: 114,622,947 (GRCm38)	F254L	possibly damaging	Het
Crb2	G	T	2: 37,786,843 (GRCm38)	C251F	probably damaging	Het
Crybg3	A	T	16: 59,555,757 (GRCm38)		probably benign	Het
Cytl1	A	G	5: 37,735,596 (GRCm38)	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,656,218 (GRCm38)		probably benign	Het
Dnah11	A	G	12: 118,045,678 (GRCm38)	M2083T	probably benign	Het
Dst	A	G	1: 34,192,269 (GRCm38)	E2656G	probably benign	Het
Dst	T	C	1: 34,228,461 (GRCm38)	F4995L	probably damaging	Het
Egf	C	T	3: 129,735,969 (GRCm38)	R264Q	probably benign	Het
Eps15l1	A	G	8: 72,380,284 (GRCm38)	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962 (GRCm38)	I201T	possibly damaging	Het
Ero1l	A	T	14: 45,292,436 (GRCm38)		probably null	Het
Etl4	T	C	2: 20,809,219 (GRCm38)		probably benign	Het
Fcho1	T	C	8: 71,710,369 (GRCm38)	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,794,127 (GRCm38)	D289G	probably damaging	Het
Gm16427	A	T	5: 93,485,198 (GRCm38)	M50K	probably damaging	Het
Gm5134	T	A	10: 76,008,531 (GRCm38)	W574R	probably damaging	Het
Gm5346	A	T	8: 43,626,350 (GRCm38)	F279Y	probably damaging	Het
Gm5414	T	C	15: 101,625,553 (GRCm38)	N332D	probably benign	Het
Gnb3	T	A	6: 124,836,979 (GRCm38)	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,817,401 (GRCm38)		noncoding transcript	Het
Ighv1-4	A	G	12: 114,487,527 (GRCm38)	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,725,521 (GRCm38)	Y74*	probably null	Het
Il17f	G	A	1: 20,777,763 (GRCm38)		probably benign	Het
Itpr2	C	T	6: 146,373,244 (GRCm38)		probably null	Het
Krtap31-1	T	C	11: 99,908,232 (GRCm38)	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,914,890 (GRCm38)	F85Y	probably benign	Het
Lrig3	C	T	10: 126,013,408 (GRCm38)	T999I	probably benign	Het
Myh7b	T	C	2: 155,618,758 (GRCm38)	I277T	probably damaging	Het
Myo3b	T	C	2: 70,289,464 (GRCm38)	F984S	probably damaging	Het
Naip5	G	A	13: 100,246,064 (GRCm38)	R46W	probably damaging	Het
Nup205	T	A	6: 35,192,040 (GRCm38)		probably null	Het
Olfr670	A	T	7: 104,960,716 (GRCm38)	N5K	probably damaging	Het
Pde11a	C	T	2: 76,337,898 (GRCm38)	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865 (GRCm38)	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,357 (GRCm38)		probably null	Het
Psg23	A	T	7: 18,607,118 (GRCm38)	S404T	possibly damaging	Het
Rev1	T	G	1: 38,054,238 (GRCm38)	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110 (GRCm38)	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857 (GRCm38)	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,154,287 (GRCm38)	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,268,224 (GRCm38)	I57K	possibly damaging	Het
Srp72	C	A	5: 76,998,251 (GRCm38)	T633K	probably benign	Het
Swt1	A	G	1: 151,394,769 (GRCm38)	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606 (GRCm38)	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,697,750 (GRCm38)	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643 (GRCm38)	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,671,871 (GRCm38)	N396S	probably benign	Het
Tuba8	T	A	6: 121,222,797 (GRCm38)	S147T	probably damaging	Het
Usp8	A	G	2: 126,752,370 (GRCm38)	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,156,700 (GRCm38)	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,787,415 (GRCm38)	H417L	possibly damaging	Het
Zfp608	A	T	18: 54,898,108 (GRCm38)	V920E	probably damaging	Het
Zmym2	T	C	14: 56,903,004 (GRCm38)	L100P	probably damaging	Het

Other mutations in Cmtr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Cmtr2	APN	8	110,223,100 (GRCm38)	missense	probably benign	0.02
IGL01068:Cmtr2	APN	8	110,222,869 (GRCm38)	missense	possibly damaging	0.65
IGL01286:Cmtr2	APN	8	110,222,852 (GRCm38)	missense	possibly damaging	0.95
IGL01916:Cmtr2	APN	8	110,221,948 (GRCm38)	missense	probably benign	0.01
IGL02302:Cmtr2	APN	8	110,221,504 (GRCm38)	missense	probably damaging	1.00
IGL02426:Cmtr2	APN	8	110,221,690 (GRCm38)	missense	possibly damaging	0.65
IGL02903:Cmtr2	APN	8	110,222,878 (GRCm38)	missense	probably benign	0.02
PIT4362001:Cmtr2	UTSW	8	110,222,336 (GRCm38)	missense	probably damaging	0.99
R1435:Cmtr2	UTSW	8	110,221,079 (GRCm38)	missense	probably benign
R1501:Cmtr2	UTSW	8	110,221,603 (GRCm38)	missense	probably benign	0.29
R1512:Cmtr2	UTSW	8	110,222,635 (GRCm38)	missense	probably damaging	0.99
R1709:Cmtr2	UTSW	8	110,221,949 (GRCm38)	missense	probably benign	0.31
R1715:Cmtr2	UTSW	8	110,222,798 (GRCm38)	missense	probably damaging	1.00
R1953:Cmtr2	UTSW	8	110,221,919 (GRCm38)	missense	probably damaging	1.00
R1960:Cmtr2	UTSW	8	110,221,750 (GRCm38)	missense	probably damaging	1.00
R2422:Cmtr2	UTSW	8	110,222,781 (GRCm38)	missense	probably benign	0.02
R3717:Cmtr2	UTSW	8	110,221,754 (GRCm38)	missense	probably damaging	0.96
R4043:Cmtr2	UTSW	8	110,221,830 (GRCm38)	nonsense	probably null
R4179:Cmtr2	UTSW	8	110,221,037 (GRCm38)	splice site	probably null
R4457:Cmtr2	UTSW	8	110,222,252 (GRCm38)	missense	probably benign	0.02
R4945:Cmtr2	UTSW	8	110,221,433 (GRCm38)	missense	probably damaging	0.99
R5371:Cmtr2	UTSW	8	110,221,412 (GRCm38)	missense	probably damaging	1.00
R6753:Cmtr2	UTSW	8	110,222,979 (GRCm38)	missense	probably damaging	1.00
R7231:Cmtr2	UTSW	8	110,222,546 (GRCm38)	missense	probably benign	0.02
R7527:Cmtr2	UTSW	8	110,222,138 (GRCm38)	missense	probably damaging	1.00
R7580:Cmtr2	UTSW	8	110,221,677 (GRCm38)	missense	probably damaging	0.99
R7808:Cmtr2	UTSW	8	110,221,619 (GRCm38)	missense	possibly damaging	0.88
R8510:Cmtr2	UTSW	8	110,222,435 (GRCm38)	missense	possibly damaging	0.53
R8690:Cmtr2	UTSW	8	110,222,345 (GRCm38)	missense	probably benign	0.00
R9172:Cmtr2	UTSW	8	110,222,129 (GRCm38)	missense	probably damaging	1.00
R9282:Cmtr2	UTSW	8	110,222,345 (GRCm38)	missense	probably benign
R9307:Cmtr2	UTSW	8	110,223,080 (GRCm38)	missense	probably benign	0.06
R9342:Cmtr2	UTSW	8	110,222,446 (GRCm38)	missense	possibly damaging	0.92
Z1177:Cmtr2	UTSW	8	110,221,499 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GTGACCCTTGTAACCTTCCG -3'
(R):5'- AATTTGCACCAGGCCTGAG -3'

Sequencing Primer
(F):5'- GTGACCCTTGTAACCTTCCGTTTTG -3'
(R):5'- AGTGCAGAGTTCCGCGTTC -3'

Posted On

2015-05-15