Mutagenetix > Incidental Mutation

Incidental Mutation 'R1709:Cmtr2'

190329

Institutional Source

Beutler Lab

Gene Symbol

Cmtr2

Ensembl Gene

ENSMUSG00000046441

Gene Name

cap methyltransferase 2

Synonyms

Ftsjd1, C730036L12Rik

MMRRC Submission

039742-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1709 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110942297-110951118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110948581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 297 (Q297L)

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: Q297L

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060558
Gene: ENSMUSG00000046441
AA Change: Q297L

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,566,942 (GRCm39)	K152E	probably benign	Het
Adgrd1	T	C	5: 129,256,292 (GRCm39)	V641A	possibly damaging	Het
Adgrv1	A	T	13: 81,741,179 (GRCm39)	V95E	probably damaging	Het
Agbl5	G	A	5: 31,063,585 (GRCm39)	C872Y	probably damaging	Het
Aldh1a7	G	T	19: 20,693,316 (GRCm39)	T201K	probably damaging	Het
Aox1	C	T	1: 58,116,633 (GRCm39)	A788V	probably benign	Het
Apob	T	C	12: 8,059,306 (GRCm39)	V2563A	probably damaging	Het
Atcay	G	A	10: 81,049,065 (GRCm39)	T179I	probably damaging	Het
Atf5	A	T	7: 44,462,707 (GRCm39)	L139Q	probably benign	Het
Atp13a3	T	C	16: 30,134,659 (GRCm39)	T1205A	probably benign	Het
Atr	C	T	9: 95,753,129 (GRCm39)	T656I	probably benign	Het
Bloc1s3	T	C	7: 19,241,453 (GRCm39)	E25G	possibly damaging	Het
Brap	T	C	5: 121,803,353 (GRCm39)		probably null	Het
C6	G	T	15: 4,820,452 (GRCm39)	A488S	probably benign	Het
Ccin	T	C	4: 43,984,133 (GRCm39)	F180S	probably damaging	Het
Cd207	T	C	6: 83,649,818 (GRCm39)	I256V	possibly damaging	Het
Cdc42bpa	G	T	1: 179,894,789 (GRCm39)	C323F	probably damaging	Het
Cfap57	T	C	4: 118,428,901 (GRCm39)	T1022A	probably benign	Het
Coro7	A	T	16: 4,452,305 (GRCm39)		probably null	Het
Cpsf2	T	A	12: 101,965,801 (GRCm39)	Y589N	probably damaging	Het
Cpxm2	T	C	7: 131,661,563 (GRCm39)	Y408C	probably damaging	Het
Crocc	A	G	4: 140,753,410 (GRCm39)		probably null	Het
Cryzl1	A	C	16: 91,509,124 (GRCm39)	F59C	probably damaging	Het
Csmd2	T	C	4: 128,389,988 (GRCm39)	V2241A	probably damaging	Het
Cxcl15	C	A	5: 90,949,275 (GRCm39)	H147N	unknown	Het
Dennd4a	A	G	9: 64,796,887 (GRCm39)	T860A	possibly damaging	Het
Dnah10	C	T	5: 124,837,155 (GRCm39)	P966L	probably damaging	Het
Dpp9	T	A	17: 56,501,431 (GRCm39)	M594L	probably benign	Het
Dspp	C	A	5: 104,323,590 (GRCm39)	N244K	probably damaging	Het
Efcab8	T	A	2: 153,656,290 (GRCm39)		probably null	Het
Elapor2	C	T	5: 9,490,726 (GRCm39)	R579*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw17	A	G	13: 50,585,693 (GRCm39)	M299V	probably benign	Het
Fbxw7	T	A	3: 84,883,659 (GRCm39)	I530N	probably damaging	Het
Gp2	C	A	7: 119,050,808 (GRCm39)	D308Y	probably null	Het
Gpd2	G	A	2: 57,247,667 (GRCm39)	V537M	probably damaging	Het
Gpr18	T	A	14: 122,149,404 (GRCm39)	Y207F	probably damaging	Het
Grip1	A	T	10: 119,733,620 (GRCm39)	D20V	probably damaging	Het
Gzmf	A	C	14: 56,444,397 (GRCm39)	F59V	probably damaging	Het
H3c1	T	A	13: 23,945,964 (GRCm39)	I125F	probably damaging	Het
Igfn1	T	C	1: 135,883,311 (GRCm39)	I2732V	probably benign	Het
Ipo8	A	T	6: 148,684,226 (GRCm39)	D855E	probably benign	Het
Klrk1	A	T	6: 129,591,682 (GRCm39)		probably null	Het
Megf11	A	G	9: 64,602,694 (GRCm39)	Y876C	probably damaging	Het
Mettl8	G	T	2: 70,812,495 (GRCm39)	Q12K	probably benign	Het
Mrgprf	T	C	7: 144,861,954 (GRCm39)	F172S	probably benign	Het
Mycbp2	G	A	14: 103,461,852 (GRCm39)	T1432I	probably damaging	Het
Nek11	A	C	9: 105,225,260 (GRCm39)	L84R	probably damaging	Het
Nlrp1b	T	C	11: 71,092,099 (GRCm39)	E9G	probably benign	Het
Nrxn1	T	C	17: 90,344,615 (GRCm39)	I433V	probably damaging	Het
Nup153	A	G	13: 46,847,450 (GRCm39)	C660R	probably damaging	Het
Or1o11	T	A	17: 37,757,091 (GRCm39)	Y226*	probably null	Het
Or2a25	T	C	6: 42,889,078 (GRCm39)	V207A	possibly damaging	Het
Or4z4	G	T	19: 12,076,245 (GRCm39)	P253T	probably damaging	Het
Or5h26	T	A	16: 58,988,264 (GRCm39)	M81L	probably benign	Het
P2rx7	T	A	5: 122,808,528 (GRCm39)	N303K	possibly damaging	Het
Pank4	T	C	4: 155,054,504 (GRCm39)	L159P	probably damaging	Het
Pcdhb22	A	T	18: 37,651,553 (GRCm39)	H7L	probably benign	Het
Pdzd8	A	T	19: 59,289,771 (GRCm39)	I543N	probably benign	Het
Pramel25	T	C	4: 143,520,116 (GRCm39)	V120A	possibly damaging	Het
Prrc2b	C	A	2: 32,084,473 (GRCm39)	R313S	probably damaging	Het
Rbm12b1	T	C	4: 12,145,827 (GRCm39)	C600R	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rfx6	T	A	10: 51,554,498 (GRCm39)	M113K	possibly damaging	Het
Rlf	A	T	4: 121,007,020 (GRCm39)	D653E	probably benign	Het
Rnf130	A	G	11: 49,978,213 (GRCm39)	D258G	possibly damaging	Het
Robo2	A	G	16: 73,753,411 (GRCm39)	V822A	possibly damaging	Het
Rps6kc1	G	T	1: 190,532,533 (GRCm39)	Q490K	possibly damaging	Het
Scn9a	T	C	2: 66,313,850 (GRCm39)	Y1945C	probably damaging	Het
Setd2	T	A	9: 110,378,925 (GRCm39)	D913E	probably benign	Het
Sfr1	G	T	19: 47,723,442 (GRCm39)	E315D	possibly damaging	Het
Smarca5	G	A	8: 81,435,849 (GRCm39)	R763*	probably null	Het
Sugct	A	C	13: 17,847,151 (GRCm39)	I44S	probably damaging	Het
Syce1l	A	G	8: 114,380,662 (GRCm39)		probably null	Het
Tbc1d8b	A	G	X: 138,634,829 (GRCm39)	I654V	probably benign	Het
Tcf23	T	A	5: 31,130,852 (GRCm39)	Y163*	probably null	Het
Terf2ip	TG	T	8: 112,738,238 (GRCm39)		probably null	Het
Tmem158	T	C	9: 123,088,950 (GRCm39)	S221G	possibly damaging	Het
Tnrc6a	A	G	7: 122,769,205 (GRCm39)	T332A	probably benign	Het
Trappc4	T	C	9: 44,318,508 (GRCm39)	T31A	probably benign	Het
Trim27	T	C	13: 21,372,235 (GRCm39)		probably null	Het
Ttyh2	T	A	11: 114,599,301 (GRCm39)	L330Q	probably damaging	Het
Tubgcp3	A	T	8: 12,689,532 (GRCm39)	L578*	probably null	Het
Txndc11	C	A	16: 10,946,565 (GRCm39)	E83*	probably null	Het
Utp20	T	C	10: 88,585,159 (GRCm39)	K2635R	probably benign	Het
V1ra8	C	T	6: 90,180,304 (GRCm39)	T169I	probably damaging	Het
Vcl	G	A	14: 21,069,441 (GRCm39)	V706I	probably benign	Het
Vmn2r106	A	T	17: 20,499,373 (GRCm39)	D179E	probably benign	Het
Vmn2r80	T	C	10: 79,030,223 (GRCm39)	M683T	probably benign	Het
Xirp2	A	G	2: 67,340,215 (GRCm39)	I819V	probably benign	Het
Zfp735	T	C	11: 73,602,589 (GRCm39)	F511S	probably benign	Het
Zfp831	T	C	2: 174,487,683 (GRCm39)	V786A	probably benign	Het
Zfp992	T	A	4: 146,550,949 (GRCm39)	H223Q	probably benign	Het
Zfyve19	A	C	2: 119,041,300 (GRCm39)	Q72P	probably damaging	Het

Other mutations in Cmtr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Cmtr2	APN	8	110,949,732 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- GAAATATCTGACCGGGCTTCAGGAC -3'
(R):5'- GCTCAAGGAAGGATTTGGGGATCAC -3'

Sequencing Primer
(F):5'- GCAGCTTCGATTGCCAAG -3'
(R):5'- ATTTGGGGATCACATGATGAGG -3'

Posted On

2014-05-14