Mutagenetix > Incidental Mutations

Incidental Mutation 'R6031:Nop2'

486272

Institutional Source

Beutler Lab

Gene Symbol

Nop2

Ensembl Gene

ENSMUSG00000038279

Gene Name

NOP2 nucleolar protein

Synonyms

120kDa, Nol1

MMRRC Submission

044203-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R6031 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125131909-125144753 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 125133566 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044200] [ENSMUST00000056889] [ENSMUST00000112390] [ENSMUST00000112392] [ENSMUST00000204185]

Predicted Effect

probably null
Transcript: ENSMUST00000044200

SMART Domains

Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279

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: ENSMUST00000056889

SMART Domains

Protein: ENSMUSP00000060054
Gene: ENSMUSG00000063870

Domain	Start	End	E-Value	Type
low complexity region	29	45	N/A	INTRINSIC
low complexity region	49	69	N/A	INTRINSIC
low complexity region	80	92	N/A	INTRINSIC
low complexity region	107	144	N/A	INTRINSIC
Pfam:CHDNT	156	210	7.7e-35	PFAM
low complexity region	217	249	N/A	INTRINSIC
low complexity region	271	291	N/A	INTRINSIC
low complexity region	296	318	N/A	INTRINSIC
low complexity region	321	347	N/A	INTRINSIC
PHD	365	408	7.17e-15	SMART
RING	366	407	7.46e-1	SMART
low complexity region	424	443	N/A	INTRINSIC
PHD	444	487	4.41e-15	SMART
RING	445	486	2.63e0	SMART
CHROMO	492	572	8.11e-17	SMART
CHROMO	613	670	1.98e-11	SMART
low complexity region	675	694	N/A	INTRINSIC
DEXDc	715	927	2.73e-37	SMART
low complexity region	1044	1056	N/A	INTRINSIC
HELICc	1073	1157	7.61e-27	SMART
DUF1087	1282	1346	5.56e-33	SMART
DUF1086	1359	1516	4.05e-108	SMART
low complexity region	1526	1540	N/A	INTRINSIC
low complexity region	1560	1578	N/A	INTRINSIC
low complexity region	1590	1633	N/A	INTRINSIC
low complexity region	1635	1653	N/A	INTRINSIC
low complexity region	1661	1674	N/A	INTRINSIC
Pfam:CHDCT2	1727	1899	1.9e-98	PFAM
low complexity region	1903	1915	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112390

SMART Domains

Protein: ENSMUSP00000108009
Gene: ENSMUSG00000063870

Domain	Start	End	E-Value	Type
low complexity region	29	45	N/A	INTRINSIC
low complexity region	49	69	N/A	INTRINSIC
low complexity region	87	99	N/A	INTRINSIC
low complexity region	114	151	N/A	INTRINSIC
Pfam:CHDNT	164	217	2e-28	PFAM
low complexity region	224	256	N/A	INTRINSIC
low complexity region	278	298	N/A	INTRINSIC
low complexity region	303	325	N/A	INTRINSIC
low complexity region	328	354	N/A	INTRINSIC
PHD	372	415	7.17e-15	SMART
RING	373	414	7.46e-1	SMART
low complexity region	431	450	N/A	INTRINSIC
PHD	451	494	4.41e-15	SMART
RING	452	493	2.63e0	SMART
CHROMO	499	579	8.11e-17	SMART
CHROMO	620	677	1.98e-11	SMART
low complexity region	682	701	N/A	INTRINSIC
DEXDc	722	934	2.73e-37	SMART
low complexity region	1051	1063	N/A	INTRINSIC
HELICc	1080	1164	7.61e-27	SMART
DUF1087	1289	1353	5.56e-33	SMART
DUF1086	1366	1523	4.05e-108	SMART
low complexity region	1533	1547	N/A	INTRINSIC
low complexity region	1567	1585	N/A	INTRINSIC
low complexity region	1597	1640	N/A	INTRINSIC
low complexity region	1642	1660	N/A	INTRINSIC
low complexity region	1668	1681	N/A	INTRINSIC
Pfam:CHDCT2	1735	1906	4.3e-90	PFAM
low complexity region	1910	1922	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112392

SMART Domains

Protein: ENSMUSP00000108011
Gene: ENSMUSG00000063870

Domain	Start	End	E-Value	Type
low complexity region	29	45	N/A	INTRINSIC
low complexity region	49	69	N/A	INTRINSIC
low complexity region	80	92	N/A	INTRINSIC
low complexity region	107	144	N/A	INTRINSIC
Pfam:CHDNT	156	210	1.1e-34	PFAM
low complexity region	217	249	N/A	INTRINSIC
low complexity region	271	291	N/A	INTRINSIC
low complexity region	296	318	N/A	INTRINSIC
low complexity region	321	347	N/A	INTRINSIC
PHD	352	395	7.17e-15	SMART
RING	353	394	7.46e-1	SMART
low complexity region	411	430	N/A	INTRINSIC
PHD	431	474	4.41e-15	SMART
RING	432	473	2.63e0	SMART
CHROMO	479	559	8.11e-17	SMART
CHROMO	600	657	1.98e-11	SMART
low complexity region	662	681	N/A	INTRINSIC
DEXDc	702	914	2.73e-37	SMART
low complexity region	1031	1043	N/A	INTRINSIC
HELICc	1060	1144	7.61e-27	SMART
DUF1087	1269	1333	5.56e-33	SMART
DUF1086	1346	1503	4.05e-108	SMART
low complexity region	1513	1527	N/A	INTRINSIC
low complexity region	1547	1565	N/A	INTRINSIC
low complexity region	1577	1620	N/A	INTRINSIC
low complexity region	1622	1640	N/A	INTRINSIC
low complexity region	1648	1661	N/A	INTRINSIC
Pfam:CHDCT2	1714	1886	2.8e-98	PFAM
low complexity region	1890	1902	N/A	INTRINSIC

Predicted Effect

probably null
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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,995,252	Y304H	possibly damaging	Het
Add2	A	G	6: 86,098,673	E268G	probably damaging	Het
Akr1b3	A	C	6: 34,312,674	V67G	probably benign	Het
Alms1	A	T	6: 85,622,955	N1588Y	probably damaging	Het
Arhgap23	A	T	11: 97,476,139	D1082V	probably damaging	Het
Asb6	A	G	2: 30,824,195	V301A	probably benign	Het
Ascc3	C	T	10: 50,842,183	R1991*	probably null	Het
Atg7	T	A	6: 114,671,233	C31S	probably benign	Het
Camsap2	A	T	1: 136,280,438	N1105K	possibly damaging	Het
Ccdc109b	A	G	3: 129,926,389	Y152H	probably damaging	Het
Ccdc125	C	T	13: 100,684,369		probably null	Het
Ccdc63	T	C	5: 122,129,736	I56V	possibly damaging	Het
Cpd	T	C	11: 76,790,888	E1143G	probably benign	Het
Cpt1a	T	A	19: 3,371,556		probably null	Het
Creb3l2	A	T	6: 37,334,434	D473E	probably benign	Het
Disp2	G	T	2: 118,789,794	V336L	probably benign	Het
Efr3b	A	G	12: 3,967,106	I782T	possibly damaging	Het
Fam98a	A	G	17: 75,539,432	V230A	probably damaging	Het
Fat3	T	A	9: 15,988,492	T3082S	probably benign	Het
Frmd3	T	C	4: 74,187,451	Y445H	probably damaging	Het
Galt	G	A	4: 41,757,202	R185Q	probably benign	Het
Gatb	T	C	3: 85,613,511	I309T	possibly damaging	Het
Gfi1b	G	A	2: 28,613,808	Q127*	probably null	Het
Gfpt1	C	A	6: 87,086,320	T563N	probably damaging	Het
Gria1	A	G	11: 57,217,782	D237G	probably damaging	Het
Hspbp1	A	T	7: 4,663,466	V305D	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Iars	T	C	13: 49,705,831	V9A	probably damaging	Het
Ipo4	G	A	14: 55,632,139	P355S	probably damaging	Het
Jade2	G	T	11: 51,826,586	C314*	probably null	Het
Kri1	T	C	9: 21,275,269	E597G	probably benign	Het
Med23	C	T	10: 24,903,748	R542*	probably null	Het
Ndc80	T	C	17: 71,511,488	N291S	probably benign	Het
Nrxn1	T	C	17: 90,588,790	N984S	probably damaging	Het
Ntm	A	C	9: 29,009,375	L86R	probably damaging	Het
Numa1	T	A	7: 102,012,012	D1847E	possibly damaging	Het
Odf2l	A	G	3: 145,139,863	Q334R	probably damaging	Het
Olfr1238	T	A	2: 89,406,972	T36S	probably damaging	Het
Olfr1333	A	T	4: 118,830,391		probably null	Het
Olfr199	T	C	16: 59,215,933	R227G	probably benign	Het
Olfr522	A	T	7: 140,162,809	V47E	possibly damaging	Het
Olfr706	C	T	7: 106,885,927	V297I	possibly damaging	Het
Olfr772	A	G	10: 129,174,355	V222A	probably benign	Het
Pcdhb19	A	T	18: 37,497,723	K190N	probably damaging	Het
Pdik1l	A	G	4: 134,279,041	F197L	probably damaging	Het
Rnf113a2	T	C	12: 84,417,990	F219L	probably damaging	Het
Rnf208	A	C	2: 25,243,764	T157P	probably damaging	Het
RP23-145I16.3	A	T	7: 142,376,714	C364S	probably damaging	Het
Scn8a	A	T	15: 100,983,984	D644V	probably damaging	Het
Thbs3	T	A	3: 89,218,094	C204S	probably damaging	Het
Tlr3	A	G	8: 45,398,528	I444T	probably damaging	Het
Tmem206	A	G	1: 191,340,840	R153G	probably benign	Het
Trpm8	A	T	1: 88,354,469	I696F	possibly damaging	Het
Ttn	A	T	2: 76,830,597	V7422D	possibly damaging	Het
Ufl1	A	G	4: 25,278,038	V139A	probably benign	Het
Uggt2	A	T	14: 119,070,826	V381D	probably benign	Het
Vgll3	T	A	16: 65,839,481	Y173N	probably damaging	Het
Vmn1r9	A	G	6: 57,071,173	T78A	probably benign	Het
Vps13b	T	A	15: 35,471,968	L806M	probably damaging	Het
Vps13d	A	C	4: 145,168,509	H394Q	probably benign	Het
Wdr53	T	A	16: 32,256,718	V247D	probably damaging	Het
Wdr81	A	T	11: 75,447,869	L1488Q	probably damaging	Het
Zc3h6	A	G	2: 128,967,812	D3G	possibly damaging	Het
Zfp93	G	T	7: 24,276,300	C570F	probably damaging	Het
Zfp943	C	T	17: 21,993,376	T481I	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
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
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'- CCGTGGGTGAATATGAGGAC -3'
(R):5'- TTTGGCTTAGGGACGTCAAC -3'

Sequencing Primer
(F):5'- GGTGAATATGAGGACTTGTACATAAC -3'
(R):5'- TTAGGGACGTCAACAGACCCTG -3'

Posted On

2017-08-16