Mutagenetix > Incidental Mutations

Incidental Mutation 'R1024:Nop2'

94731

Institutional Source

Beutler Lab

Gene Symbol

Nop2

Ensembl Gene

ENSMUSG00000038279

Gene Name

NOP2 nucleolar protein

Synonyms

120kDa, Nol1

MMRRC Submission

039126-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R1024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125131909-125144753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125137186 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 205 (V205E)

Ref Sequence

ENSEMBL: ENSMUSP00000047123 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000044200
AA Change: V205E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: V205E

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

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.6%
20x: 90.2%

Validation Efficiency

90% (36/40)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,677,409	S719P	probably damaging	Het
Atxn2l	A	T	7: 126,497,294	N425K	probably benign	Het
B3galt4	G	A	17: 33,950,839	R142C	probably damaging	Het
Cacna2d2	T	C	9: 107,527,050		probably null	Het
Ccar2	A	G	14: 70,140,515	S674P	probably damaging	Het
Ccm2	T	A	11: 6,570,119	Y56*	probably null	Het
Cdc14b	A	T	13: 64,215,676	V257E	probably damaging	Het
Cdca8	A	C	4: 124,922,005	S171R	probably benign	Het
Cep192	C	T	18: 67,838,054	T1042I	probably benign	Het
Cfap100	T	A	6: 90,413,004	T101S	possibly damaging	Het
Cfap46	T	A	7: 139,642,597	M1155L	probably benign	Het
Cyp3a13	T	A	5: 137,894,364	I473F	possibly damaging	Het
Dclk3	A	G	9: 111,469,070	I561V	possibly damaging	Het
Dock6	A	T	9: 21,833,612	L556H	probably damaging	Het
Dqx1	G	A	6: 83,061,089	C486Y	probably damaging	Het
Drd1	T	A	13: 54,053,314	M294L	probably benign	Het
Dsel	A	G	1: 111,860,673	S711P	probably damaging	Het
Fcho2	A	T	13: 98,732,659	I568N	probably damaging	Het
Folr1	A	G	7: 101,858,603	M210T	probably damaging	Het
Gatc	T	A	5: 115,340,845		probably null	Het
Gja8	A	T	3: 96,919,424	F307L	probably benign	Het
H1fnt	G	A	15: 98,256,755	T171I	unknown	Het
Hnrnpd	C	A	5: 99,966,157	*87L	probably null	Het
Hpd	C	T	5: 123,174,469	R279H	possibly damaging	Het
Igfals	G	A	17: 24,880,483	V183M	probably damaging	Het
Izumo1	A	G	7: 45,627,174	Y387C	probably benign	Het
Kdm5a	A	G	6: 120,399,038	N585S	probably null	Het
March2	C	A	17: 33,709,788	G45C	probably damaging	Het
Myo15	A	T	11: 60,479,616	R1067S	probably benign	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nell1	A	G	7: 50,120,663	S157G	probably damaging	Het
Nf1	A	T	11: 79,547,033	E2072D	probably damaging	Het
Nipal1	CGGG	CGG	5: 72,667,991		probably null	Het
Nphs1	G	T	7: 30,474,277	S939I	probably damaging	Het
Nudt8	T	A	19: 4,001,925	W179R	probably damaging	Het
Nutm1	A	T	2: 112,249,929	I547N	probably benign	Het
Olfr729	A	T	14: 50,147,927	F316I	probably benign	Het
Olfr921	C	A	9: 38,775,335	L27I	probably damaging	Het
Oog2	A	C	4: 144,196,286	T374P	probably damaging	Het
Otud4	T	A	8: 79,664,093	M413K	probably benign	Het
Pear1	A	G	3: 87,760,299		probably benign	Het
Pla2g3	G	A	11: 3,488,551	C67Y	probably damaging	Het
Plxdc2	A	G	2: 16,712,106	T334A	probably benign	Het
Ppl	G	A	16: 5,100,000	R543W	probably damaging	Het
Prl5a1	G	A	13: 28,149,897	V128I	probably damaging	Het
Pth1r	T	C	9: 110,729,621	D96G	probably benign	Het
Pth1r	A	T	9: 110,742,227	L25Q	probably damaging	Het
Rfpl4	G	T	7: 5,110,518	D215E	probably damaging	Het
Rnf146	T	A	10: 29,347,096	R265*	probably null	Het
Rpe65	T	C	3: 159,606,485	I207T	probably benign	Het
Rptn	A	G	3: 93,398,225	E955G	possibly damaging	Het
Rwdd2b	A	T	16: 87,436,850	C121S	probably damaging	Het
Scn10a	A	G	9: 119,609,274	I1843T	probably damaging	Het
Sirt5	A	G	13: 43,370,769	I6V	probably benign	Het
Slc25a36	A	G	9: 97,079,201	Y261H	probably damaging	Het
Slc5a3	G	A	16: 92,077,495	A147T	probably damaging	Het
Stk39	T	C	2: 68,410,046	S114G	probably damaging	Het
Stxbp1	T	C	2: 32,814,967		probably null	Het
Syt3	G	T	7: 44,390,682	G113V	probably damaging	Het
Tatdn2	A	G	6: 113,709,545	T644A	probably damaging	Het
Trim9	T	A	12: 70,252,017		probably null	Het
Tut1	A	G	19: 8,959,355	N181S	probably benign	Het
Vill	T	C	9: 119,066,824	S151P	probably damaging	Het
Vmn2r90	A	T	17: 17,728,138	I549F	probably damaging	Het
Wdfy4	T	C	14: 33,079,966	T1912A	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
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
R7499:Nop2	UTSW	6	125144208	missense	possibly damaging	0.75

Predicted Primers

Posted On

2014-01-05