Mutagenetix > Incidental Mutation

Incidental Mutation 'R5415:Exosc2'

427666

Institutional Source

Beutler Lab

Gene Symbol

Exosc2

Ensembl Gene

ENSMUSG00000039356

Gene Name

exosome component 2

Synonyms

Rrp4

MMRRC Submission

042984-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R5415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31560727-31571361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31562578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 73 (K73E)

Ref Sequence

ENSEMBL: ENSMUSP00000043519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038474] [ENSMUST00000125883] [ENSMUST00000137156]

AlphaFold

Q8VBV3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038474
AA Change: K73E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043519
Gene: ENSMUSG00000039356
AA Change: K73E

Domain	Start	End	E-Value	Type
Pfam:ECR1_N	26	63	2.5e-19	PFAM
S1	79	159	8.96e-2	SMART
Pfam:KH_6	169	210	2.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125883
AA Change: K72E

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000141404
Gene: ENSMUSG00000039356
AA Change: K72E

Domain	Start	End	E-Value	Type
Pfam:ECR1_N	25	63	6.6e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137156
AA Change: K73E

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118770
Gene: ENSMUSG00000039356
AA Change: K73E

Domain	Start	End	E-Value	Type
Pfam:ECR1_N	26	64	1.4e-18	PFAM
Blast:S1	79	159	3e-21	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154296

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef18	G	A	8: 3,438,075 (GRCm39)	R303H	probably damaging	Het
Ark2c	C	A	18: 77,554,435 (GRCm39)	V60L	probably damaging	Het
Asb15	A	T	6: 24,570,690 (GRCm39)	Q556L	probably benign	Het
Ccr1	G	T	9: 123,764,413 (GRCm39)	P39H	probably damaging	Het
Cd177	A	T	7: 24,451,816 (GRCm39)	L400Q	probably damaging	Het
Cfap298	G	T	16: 90,722,953 (GRCm39)	D260E	probably benign	Het
Cideb	T	C	14: 55,995,312 (GRCm39)	E58G	probably damaging	Het
Drd2	A	G	9: 49,313,553 (GRCm39)	K241E	possibly damaging	Het
Ect2	C	T	3: 27,201,002 (GRCm39)	C126Y	probably damaging	Het
Eef1d	T	C	15: 75,775,030 (GRCm39)	T210A	probably benign	Het
Enpp2	G	A	15: 54,745,552 (GRCm39)	H315Y	probably damaging	Het
Ero1b	A	T	13: 12,616,656 (GRCm39)	M362L	probably benign	Het
Gm9637	T	A	14: 19,402,143 (GRCm38)		noncoding transcript	Het
Gstm5	A	G	3: 107,804,811 (GRCm39)	D101G	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kmt2c	T	C	5: 25,519,699 (GRCm39)	D2137G	probably benign	Het
Mecom	T	C	3: 30,011,675 (GRCm39)	D619G	possibly damaging	Het
Met	A	G	6: 17,527,084 (GRCm39)	I512V	probably benign	Het
Myh15	A	G	16: 48,937,658 (GRCm39)	K753R	probably null	Het
Nfatc4	A	G	14: 56,070,091 (GRCm39)	D753G	probably benign	Het
Or2l5	T	A	16: 19,333,996 (GRCm39)	H130L	possibly damaging	Het
Or4c113	T	A	2: 88,885,240 (GRCm39)	T177S	probably benign	Het
Or4c12	T	A	2: 89,773,731 (GRCm39)	T243S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Parp9	C	T	16: 35,763,752 (GRCm39)	A10V	probably damaging	Het
Pcdh8	C	A	14: 80,007,688 (GRCm39)	E292*	probably null	Het
Pdpn	A	T	4: 142,995,788 (GRCm39)	V161D	probably damaging	Het
Peg3	A	G	7: 6,711,628 (GRCm39)	V1198A	probably benign	Het
Phykpl	T	C	11: 51,476,342 (GRCm39)	S21P	probably benign	Het
Plcb1	G	T	2: 135,189,322 (GRCm39)	V817F	possibly damaging	Het
Polk	T	C	13: 96,620,463 (GRCm39)	Y579C	probably benign	Het
Ppp1r18	A	G	17: 36,178,511 (GRCm39)	N129D	probably benign	Het
Psg29	C	A	7: 16,945,561 (GRCm39)		probably null	Het
Rims4	C	T	2: 163,760,596 (GRCm39)	R3H	probably benign	Het
Rps6kl1	A	T	12: 85,186,155 (GRCm39)	C292S	probably benign	Het
Uaca	G	T	9: 60,777,421 (GRCm39)	G603C	possibly damaging	Het
Vmn1r60	T	C	7: 5,547,416 (GRCm39)	H228R	probably benign	Het
Vmn2r7	T	C	3: 64,623,658 (GRCm39)	T221A	probably benign	Het
Zfp647	C	A	15: 76,795,593 (GRCm39)	V356L	possibly damaging	Het

Other mutations in Exosc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02376:Exosc2	APN	2	31,569,887 (GRCm39)	missense	possibly damaging	0.92
R0137:Exosc2	UTSW	2	31,562,497 (GRCm39)	missense	probably damaging	1.00
R1700:Exosc2	UTSW	2	31,560,818 (GRCm39)	missense	probably benign
R3427:Exosc2	UTSW	2	31,569,900 (GRCm39)	missense	probably damaging	1.00
R6761:Exosc2	UTSW	2	31,560,875 (GRCm39)	critical splice donor site	probably null
R9291:Exosc2	UTSW	2	31,560,871 (GRCm39)	missense	probably benign
R9475:Exosc2	UTSW	2	31,564,755 (GRCm39)	missense	probably benign	0.00
R9509:Exosc2	UTSW	2	31,564,755 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCCGTTAGGTTCAAGAACTATGT -3'
(R):5'- TGAGGGAACTGTGAGGCTCA -3'

Sequencing Primer
(F):5'- ACTATGTTCTAGATCACCTCCAATG -3'
(R):5'- TAGGTTCCTGCTCACGAGGTAAC -3'

Posted On

2016-09-01