Mutagenetix > Incidental Mutations

Incidental Mutation 'R4522:Nop2'

334265

Institutional Source

Beutler Lab

Gene Symbol

Nop2

Ensembl Gene

ENSMUSG00000038279

Gene Name

NOP2 nucleolar protein

Synonyms

120kDa, Nol1

MMRRC Submission

041765-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R4522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125131909-125144753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 125133552 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 47 (R47L)

Ref Sequence

ENSEMBL: ENSMUSP00000145333 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044200
AA Change: R47L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: R47L

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 damaging
Transcript: ENSMUST00000204185
AA Change: R47L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145333
Gene: ENSMUSG00000038279
AA Change: R47L

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

0.1253

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,660,670	N700D	probably benign	Het
Babam2	G	A	5: 32,007,242	V287M	probably damaging	Het
Brip1	T	C	11: 86,189,801	I146M	possibly damaging	Het
Cacna1b	C	T	2: 24,654,430	R1248H	probably damaging	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Chaf1b	G	A	16: 93,901,295	A485T	probably benign	Het
Dock7	T	C	4: 98,962,224	R1594G	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Gm3739	T	A	14: 7,299,398	K86*	probably null	Het
Gm7173	A	T	X: 79,509,995	N291K	possibly damaging	Het
Mark2	A	T	19: 7,285,948	D151E	probably damaging	Het
Nwd1	A	T	8: 72,670,951	D606V	probably damaging	Het
Olfr1132	T	A	2: 87,635,151	I199L	probably benign	Het
Pcbp1	T	C	6: 86,525,050	N289S	probably benign	Het
Plce1	T	C	19: 38,524,319	S21P	possibly damaging	Het
Ptpn18	T	C	1: 34,472,960	L55P	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sec23b	T	A	2: 144,578,366	I450N	possibly damaging	Het
Speg	A	G	1: 75,428,330	E2922G	probably damaging	Het
Spem1	C	A	11: 69,821,805		probably null	Het
Stxbp3-ps	A	T	19: 9,559,110		noncoding transcript	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmod2	T	C	9: 75,592,584	T129A	probably benign	Het
Ttc28	A	G	5: 111,280,172	T1845A	probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Ush2a	C	T	1: 188,864,625	T3854M	probably damaging	Het
Vmn2r72	T	A	7: 85,751,926	H95L	probably benign	Het
Xdh	C	A	17: 73,898,344	G1042V	probably damaging	Het
Zfp105	T	A	9: 122,930,056	V264E	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
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

PCR Primer
(F):5'- CCGTGGGTGAATATGAGGAC -3'
(R):5'- ATTTGGCTTAGGGACGTCAAC -3'

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

Posted On

2015-08-18