Mutagenetix > Incidental Mutations

Incidental Mutation 'R7499:Nop2'

581375

Institutional Source

Beutler Lab

Gene Symbol

Nop2

Ensembl Gene

ENSMUSG00000038279

Gene Name

NOP2 nucleolar protein

Synonyms

120kDa, Nol1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7499 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125131909-125144753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 125144208 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 651 (P651Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044200] [ENSMUST00000117675] [ENSMUST00000119527] [ENSMUST00000144364]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044200
AA Change: P651Q

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: P651Q

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: ENSMUST00000117675

SMART Domains

Protein: ENSMUSP00000113088
Gene: ENSMUSG00000038271

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
coiled coil region	190	242	N/A	INTRINSIC
low complexity region	362	375	N/A	INTRINSIC
low complexity region	381	392	N/A	INTRINSIC
PDB:1GK4\|F	393	459	6e-7	PDB
low complexity region	474	497	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119527

SMART Domains

Protein: ENSMUSP00000113376
Gene: ENSMUSG00000038271

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
coiled coil region	190	242	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC
low complexity region	378	389	N/A	INTRINSIC
PDB:1GK4\|F	390	456	6e-7	PDB
low complexity region	471	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144364

SMART Domains

Protein: ENSMUSP00000116701
Gene: ENSMUSG00000038271

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
coiled coil region	190	242	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148835

SMART Domains

Protein: ENSMUSP00000115080
Gene: ENSMUSG00000038271

Domain	Start	End	E-Value	Type
Filament	34	348	4.99e-2	SMART
low complexity region	356	379	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,999,902	D180V	possibly damaging	Het
Abat	T	C	16: 8,603,754		probably null	Het
Ankfn1	G	A	11: 89,391,750	T357I	probably benign	Het
Armc3	C	T	2: 19,285,979	T423I	probably benign	Het
Asb6	T	C	2: 30,824,460	T213A	possibly damaging	Het
Atp11a	T	C	8: 12,832,575	C488R	probably benign	Het
Bag6	G	A	17: 35,144,392	R736H	probably benign	Het
Bche	G	A	3: 73,701,898	P65L	probably damaging	Het
Cela3a	T	A	4: 137,405,639	I101F	probably damaging	Het
Cep170	A	T	1: 176,774,462	D359E	probably damaging	Het
Chfr	T	C	5: 110,151,683	V314A	probably benign	Het
Clpb	T	C	7: 101,722,728	F224L	possibly damaging	Het
Coro2a	T	C	4: 46,539,188	K527R	probably benign	Het
Cpa5	A	G	6: 30,630,857	T373A	possibly damaging	Het
Ctsd	A	T	7: 142,383,412		probably null	Het
Dlx5	G	A	6: 6,878,340	S230F	possibly damaging	Het
Dlx5	A	C	6: 6,878,341	S230A	probably benign	Het
Dmc1	G	T	15: 79,602,420	S11*	probably null	Het
Dnah1	G	A	14: 31,315,122	Q256*	probably null	Het
Dnah3	A	G	7: 120,060,912	F846L	probably damaging	Het
Dnah5	A	T	15: 28,302,450	I1618F	probably damaging	Het
Emsy	A	G	7: 98,630,331	V267A	possibly damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,735,422		probably null	Het
Frem1	T	C	4: 83,005,770	I317M	probably damaging	Het
G6pc	C	A	11: 101,376,694	Y323*	probably null	Het
Gm5114	A	G	7: 39,409,065	C377R	possibly damaging	Het
Gm7361	C	A	5: 26,261,190	H183Q	probably benign	Het
Hmbox1	A	G	14: 64,896,677	V158A	possibly damaging	Het
Hmg20a	A	G	9: 56,488,943	R340G	unknown	Het
Ifi206	T	A	1: 173,482,041	I130F		Het
Ifnb1	T	C	4: 88,522,674	N34S	probably benign	Het
Il16	T	C	7: 83,674,494	K283E	probably damaging	Het
Maf	T	C	8: 115,693,181	D374G	probably benign	Het
Mettl14	A	G	3: 123,374,854	I179T	probably benign	Het
Mpped1	G	A	15: 83,800,050	R91H	probably damaging	Het
Olfr486	A	G	7: 108,171,800	*315Q	probably null	Het
Phkg1	G	A	5: 129,873,268	Q89*	probably null	Het
Phykpl	T	A	11: 51,591,458	V133E	probably damaging	Het
Polr3gl	A	T	3: 96,579,821	Y183N	probably benign	Het
Pqlc2	T	A	4: 139,306,512	D32V	probably damaging	Het
Rab13	A	G	3: 90,225,533	T187A	probably benign	Het
Ripor2	A	G	13: 24,693,772	M252V	probably damaging	Het
Sec61a2	T	C	2: 5,877,914	N186S	probably benign	Het
Serpinb5	T	C	1: 106,872,389		probably null	Het
Serpine3	G	A	14: 62,665,027	W29*	probably null	Het
Sh2b3	T	C	5: 121,818,473	R382G	probably damaging	Het
Slc7a5	A	G	8: 121,883,722	L451P	probably damaging	Het
Slco1a5	T	C	6: 142,262,531		probably null	Het
Tep1	G	A	14: 50,853,590	A695V	probably damaging	Het
Tnik	T	C	3: 28,630,594	V857A	possibly damaging	Het
Trdn	A	T	10: 33,196,101	M255L	probably benign	Het
Tsc22d4	G	A	5: 137,747,723	S203N	probably benign	Het
Tsfm	T	C	10: 127,022,548	E316G	possibly damaging	Het
Tvp23b	T	C	11: 62,879,463		probably benign	Het
Vgf	C	A	5: 137,032,245	D420E	probably damaging	Het
Zan	G	A	5: 137,464,356	P854S	probably benign	Het
Zfp831	T	C	2: 174,644,023	S164P	possibly damaging	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
R6436:Nop2	UTSW	6	125137311	missense	probably benign	0.01
R7393:Nop2	UTSW	6	125133546	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTACCTCAGGAAACTCGGCAG -3'
(R):5'- ATTTCAGAGGGAGTCGGCAC -3'

Sequencing Primer
(F):5'- CTACAGAGCCTGACCTGAAGG -3'
(R):5'- CACAGGAGGTGTTCTCGAGTC -3'

Posted On

2019-10-17