Mutagenetix > Incidental Mutations

Incidental Mutation 'R6436:Nop2'

518772

Institutional Source

Beutler Lab

Gene Symbol

Nop2

Ensembl Gene

ENSMUSG00000038279

Gene Name

NOP2 nucleolar protein

Synonyms

120kDa, Nol1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R6436 (G1)

Quality Score

160.009

Status

Validated

Chromosome

Chromosomal Location

125131909-125144753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125137311 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 215 (D215G)

Ref Sequence

ENSEMBL: ENSMUSP00000047123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044200] [ENSMUST00000204185]

Predicted Effect

probably benign
Transcript: ENSMUST00000044200
AA Change: D215G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: D215G

Domain	Start	End	E-Value	Type
low complexity region	41	57	N/A	INTRINSIC
low complexity region	97	109	N/A	INTRINSIC
low complexity region	166	176	N/A	INTRINSIC
Pfam:Methyltr_RsmF_N	268	359	2.9e-12	PFAM
Pfam:Nol1_Nop2_Fmu	362	570	2e-86	PFAM
Pfam:P120R	609	630	2.7e-11	PFAM
Pfam:P120R	663	685	1.1e-12	PFAM
low complexity region	729	745	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204185

SMART Domains

Protein: ENSMUSP00000145333
Gene: ENSMUSG00000038279

Domain	Start	End	E-Value	Type
low complexity region	41	57	N/A	INTRINSIC
low complexity region	97	109	N/A	INTRINSIC

Meta Mutation Damage Score

0.0864

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.5%

Validation Efficiency

100% (33/33)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete prenatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arc	C	A	15: 74,672,249	V42L	possibly damaging	Het
Clip1	C	T	5: 123,641,785	E433K	probably damaging	Het
Cmya5	T	C	13: 93,089,215	T3122A	probably damaging	Het
Ctf2	G	T	7: 127,719,431	A92E	probably damaging	Het
Ctsw	G	T	19: 5,466,294	R184S	possibly damaging	Het
D130043K22Rik	A	G	13: 24,877,935	E629G	probably damaging	Het
Dmbt1	T	C	7: 131,116,641	V1523A	probably benign	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fanci	T	C	7: 79,440,698	I982T	probably benign	Het
Fnbp1	T	C	2: 31,096,127	D3G	probably damaging	Het
Gm10770	G	A	2: 150,178,910	T229I	probably benign	Het
Gm35315	G	A	5: 110,078,712	T287I	probably benign	Het
Itgb3	T	A	11: 104,633,492	D151E	probably damaging	Het
Lcn8	A	T	2: 25,654,978		probably null	Het
Ninl	A	G	2: 150,966,178	L310P	probably damaging	Het
Olfr1426	T	C	19: 12,087,935	T286A	probably benign	Het
Olfr788	A	G	10: 129,472,904	T71A	probably damaging	Het
Parg	T	C	14: 32,271,677	W289R	probably damaging	Het
Pdcd4	A	G	19: 53,926,931		probably null	Het
Plk2	G	T	13: 110,396,036	E95*	probably null	Het
Pold1	G	A	7: 44,538,778	R559C	probably damaging	Het
Ptprc	T	C	1: 138,083,639	D560G	possibly damaging	Het
Rasal3	T	C	17: 32,397,504	Y290C	probably damaging	Het
Rcsd1	T	A	1: 165,657,615	S90C	probably damaging	Het
Rttn	T	C	18: 89,110,729	L1935P	probably damaging	Het
Smc1b	C	T	15: 85,092,031	R825Q	probably benign	Het
Srsf11	C	T	3: 158,023,344		probably benign	Homo
Tmc3	T	C	7: 83,598,487	Y230H	probably damaging	Het
Tnfrsf25	A	T	4: 152,119,627		probably null	Het
Ubl7	T	C	9: 57,920,510	L160P	probably damaging	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Zfp646	T	A	7: 127,879,941	V430E	probably benign	Het

Other mutations in Nop2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Nop2	APN	6	125133546	missense	probably damaging	1.00
IGL00913:Nop2	APN	6	125139821	missense	probably damaging	1.00
IGL02568:Nop2	APN	6	125140850	missense	probably damaging	1.00
IGL02850:Nop2	APN	6	125144085	missense	possibly damaging	0.67
IGL02850:Nop2	APN	6	125144070	missense	probably benign	0.01
IGL02851:Nop2	APN	6	125144085	missense	possibly damaging	0.67
IGL02851:Nop2	APN	6	125144070	missense	probably benign	0.01
IGL03144:Nop2	APN	6	125137512	critical splice donor site	probably null
IGL03338:Nop2	APN	6	125139732	splice site	probably null
R0211:Nop2	UTSW	6	125141344	missense	probably damaging	1.00
R0211:Nop2	UTSW	6	125141344	missense	probably damaging	1.00
R0486:Nop2	UTSW	6	125140673	missense	probably null	0.14
R0627:Nop2	UTSW	6	125139704	missense	possibly damaging	0.90
R1022:Nop2	UTSW	6	125137186	missense	probably benign	0.02
R1024:Nop2	UTSW	6	125137186	missense	probably benign	0.02
R1068:Nop2	UTSW	6	125132279	missense	probably damaging	0.99
R1750:Nop2	UTSW	6	125137638	missense	probably benign	0.00
R1847:Nop2	UTSW	6	125137079	unclassified	probably benign
R1940:Nop2	UTSW	6	125134634	missense	probably benign	0.43
R1972:Nop2	UTSW	6	125134639	missense	probably benign	0.02
R2059:Nop2	UTSW	6	125139860	missense	probably null	0.95
R2100:Nop2	UTSW	6	125140822	missense	probably damaging	1.00
R3123:Nop2	UTSW	6	125132201	utr 5 prime	probably benign
R3124:Nop2	UTSW	6	125132201	utr 5 prime	probably benign
R3160:Nop2	UTSW	6	125134592	missense	probably benign	0.00
R3162:Nop2	UTSW	6	125134592	missense	probably benign	0.00
R4521:Nop2	UTSW	6	125133552	missense	probably damaging	1.00
R4522:Nop2	UTSW	6	125133552	missense	probably damaging	1.00
R4523:Nop2	UTSW	6	125133552	missense	probably damaging	1.00
R4524:Nop2	UTSW	6	125133552	missense	probably damaging	1.00
R4571:Nop2	UTSW	6	125140881	critical splice donor site	probably null
R4695:Nop2	UTSW	6	125144556	missense	probably benign	0.00
R4747:Nop2	UTSW	6	125137094	missense	probably benign
R5010:Nop2	UTSW	6	125133763	missense	probably benign	0.00
R5385:Nop2	UTSW	6	125144361	missense	probably benign
R5455:Nop2	UTSW	6	125140643	missense	probably benign	0.19
R5567:Nop2	UTSW	6	125133763	missense	probably benign	0.00
R5914:Nop2	UTSW	6	125134728	missense	probably benign	0.01
R5993:Nop2	UTSW	6	125144019	missense	probably benign	0.00
R6031:Nop2	UTSW	6	125133566	critical splice donor site	probably null
R6031:Nop2	UTSW	6	125133566	critical splice donor site	probably null
R6065:Nop2	UTSW	6	125144565	missense	probably benign
R6352:Nop2	UTSW	6	125137207	missense	probably benign
R7393:Nop2	UTSW	6	125133546	nonsense	probably null
R7499:Nop2	UTSW	6	125144208	missense	possibly damaging	0.75
R8029:Nop2	UTSW	6	125144420	missense	possibly damaging	0.77
R8059:Nop2	UTSW	6	125140812	missense	probably damaging	0.98
R8445:Nop2	UTSW	6	125134604	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTCTGTCTGGGCTTGAACC -3'
(R):5'- CTTGCTCAGCAGGAAGTCTC -3'

Sequencing Primer
(F):5'- AAGATGATGATGGTGTGTCCCC -3'
(R):5'- TTGCTCAGCAGGAAGTCTCCATAAG -3'

Posted On

2018-05-24