Mutagenetix > Incidental Mutation

Incidental Mutation 'R5914:Nop2'

461191

Institutional Source

Beutler Lab

Gene Symbol

Nop2

Ensembl Gene

ENSMUSG00000038279

Gene Name

NOP2 nucleolar protein

Synonyms

Nol1, 120kDa

MMRRC Submission

044111-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R5914 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

125108872-125121716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125111691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 141 (E141D)

Ref Sequence

ENSEMBL: ENSMUSP00000047123 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044200
AA Change: E141D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: E141D

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 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

0.0609

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

95% (87/92)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,410,219 (GRCm39)	R286H	possibly damaging	Het
Ank3	A	T	10: 69,828,774 (GRCm39)		probably benign	Het
Arhgap24	G	A	5: 102,700,025 (GRCm39)		probably null	Het
Arhgef2	T	C	3: 88,543,176 (GRCm39)	Y396H	probably benign	Het
Asap3	G	T	4: 135,968,720 (GRCm39)	G722C	probably benign	Het
Birc2	A	C	9: 7,857,343 (GRCm39)	*377E	probably null	Het
Cdc123	G	T	2: 5,803,174 (GRCm39)	Q282K	possibly damaging	Het
Cdkl4	C	T	17: 80,855,120 (GRCm39)		probably null	Het
Cep97	T	C	16: 55,725,820 (GRCm39)	N689S	probably benign	Het
Cfap97	T	G	8: 46,634,895 (GRCm39)	S407A	probably damaging	Het
Cfh	A	T	1: 140,063,967 (GRCm39)	N436K	probably benign	Het
Chpf2	A	T	5: 24,797,421 (GRCm39)		probably benign	Het
Cnnm2	A	G	19: 46,751,616 (GRCm39)	T469A	probably benign	Het
Col6a3	T	A	1: 90,703,922 (GRCm39)	I2275F	unknown	Het
Ctdspl2	A	T	2: 121,809,414 (GRCm39)	N122Y	probably damaging	Het
Dcaf6	A	T	1: 165,178,724 (GRCm39)	C602S	probably benign	Het
Dda1	T	A	8: 71,927,294 (GRCm39)		probably benign	Het
Dixdc1	T	C	9: 50,609,888 (GRCm39)		probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Emilin3	T	A	2: 160,750,990 (GRCm39)	N253I	probably damaging	Het
Epg5	T	A	18: 78,002,847 (GRCm39)		probably null	Het
Fam204a	A	T	19: 60,209,525 (GRCm39)	Y68*	probably null	Het
Fbln5	T	G	12: 101,727,002 (GRCm39)	D329A	possibly damaging	Het
Fkbp15	T	A	4: 62,246,047 (GRCm39)		probably null	Het
Fnbp4	C	G	2: 90,605,137 (GRCm39)		probably benign	Het
Foxn2	C	A	17: 88,770,138 (GRCm39)		probably null	Het
Frem1	T	C	4: 82,920,012 (GRCm39)	D448G	probably damaging	Het
Fzd9	T	C	5: 135,278,199 (GRCm39)	Y562C	probably benign	Het
Gcn1	A	G	5: 115,748,194 (GRCm39)		silent	Het
Gm6003	A	G	7: 32,864,691 (GRCm39)		noncoding transcript	Het
Gnl3	C	A	14: 30,738,853 (GRCm39)	E65D	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hk2	C	T	6: 82,713,615 (GRCm39)	R461K	probably benign	Het
Ice1	A	G	13: 70,754,496 (GRCm39)	F530S	possibly damaging	Het
Ing3	T	A	6: 21,968,904 (GRCm39)	S129T	probably benign	Het
Ino80	G	A	2: 119,288,697 (GRCm39)	S3L	probably damaging	Het
Ints2	T	A	11: 86,113,000 (GRCm39)	Q839H	probably benign	Het
Kcnrg	T	C	14: 61,849,280 (GRCm39)	M247T	probably benign	Het
Kpna6	T	C	4: 129,566,485 (GRCm39)		probably benign	Het
Krtap28-13	T	A	1: 83,039,044 (GRCm39)		probably benign	Het
Lgr4	T	A	2: 109,748,617 (GRCm39)	V51E	possibly damaging	Het
Map3k5	A	C	10: 19,980,001 (GRCm39)	E836D	probably benign	Het
Mapk11	T	C	15: 89,030,038 (GRCm39)	I193V	probably benign	Het
Marchf10	A	T	11: 105,276,308 (GRCm39)	V660E	probably damaging	Het
Matn4	T	C	2: 164,235,144 (GRCm39)	E435G	probably damaging	Het
Mre11a	G	T	9: 14,723,232 (GRCm39)	R402M	probably damaging	Het
Msr1	C	T	8: 40,034,868 (GRCm39)	G428R	probably damaging	Het
Ndufv3	C	T	17: 31,750,206 (GRCm39)	R99*	probably null	Het
Nkx6-1	C	T	5: 101,811,847 (GRCm39)	S85N	unknown	Het
Or5b3	A	G	19: 13,388,326 (GRCm39)	H131R	probably benign	Het
Or8b1	G	C	9: 38,399,657 (GRCm39)	E111Q	probably damaging	Het
Paox	T	C	7: 139,709,101 (GRCm39)	S205P	probably damaging	Het
Pcdh15	T	C	10: 74,466,768 (GRCm39)	V995A	probably benign	Het
Pdcd1	T	A	1: 93,968,550 (GRCm39)	K161N	probably benign	Het
Pfkfb2	C	A	1: 130,627,832 (GRCm39)	V372L	probably damaging	Het
Phldb1	G	A	9: 44,622,948 (GRCm39)	T19I	probably damaging	Het
Pik3c2g	G	T	6: 139,599,477 (GRCm39)	V198L	probably benign	Het
Pnpla8	T	A	12: 44,342,753 (GRCm39)	L41*	probably null	Het
Postn	C	T	3: 54,281,221 (GRCm39)	Q449*	probably null	Het
Ppp1r3a	C	T	6: 14,718,988 (GRCm39)	S642N	probably benign	Het
Ptpn23	G	A	9: 110,214,511 (GRCm39)		probably benign	Het
Ptprj	T	C	2: 90,283,684 (GRCm39)	N923S	possibly damaging	Het
Rai1	T	C	11: 60,078,630 (GRCm39)	V898A	probably benign	Het
Rasgef1a	A	T	6: 118,057,515 (GRCm39)	Y72F	possibly damaging	Het
Serpinb7	T	C	1: 107,379,580 (GRCm39)	V329A	probably damaging	Het
Slc24a4	T	A	12: 102,201,049 (GRCm39)	I311N	probably damaging	Het
Slc45a1	C	A	4: 150,713,997 (GRCm39)	L749F	possibly damaging	Het
Spon1	G	A	7: 113,630,056 (GRCm39)	D428N	probably damaging	Het
Tcf7l2	G	A	19: 55,886,992 (GRCm39)	E2K	probably benign	Het
Thoc5	A	G	11: 4,870,416 (GRCm39)	M472V	possibly damaging	Het
Tm6sf2	T	C	8: 70,528,213 (GRCm39)	Y121H	probably damaging	Het
Tmc4	T	A	7: 3,675,008 (GRCm39)	D221V	probably benign	Het
Trim30b	A	T	7: 104,006,572 (GRCm39)	S95T	probably damaging	Het
Trip12	T	C	1: 84,741,179 (GRCm39)	E571G	probably damaging	Het
Ttn	T	C	2: 76,781,656 (GRCm39)		probably null	Het
Ubp1	A	T	9: 113,785,807 (GRCm39)	R161W	probably benign	Het
Usp21	G	A	1: 171,109,745 (GRCm39)		probably benign	Het
Vmn1r61	T	A	7: 5,613,529 (GRCm39)	R262W	probably damaging	Het
Vmn2r67	A	T	7: 84,801,044 (GRCm39)	D297E	probably damaging	Het
Vwa5a	T	C	9: 38,653,038 (GRCm39)	L784S	probably benign	Het
Vwc2	G	A	11: 11,104,244 (GRCm39)	V259M	probably damaging	Het
Zeb2	T	C	2: 44,887,064 (GRCm39)	I596M	probably benign	Het
Zgrf1	T	A	3: 127,354,672 (GRCm39)	L97H	probably damaging	Het

Other mutations in Nop2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Nop2	APN	6	125,110,509 (GRCm39)	missense	probably damaging	1.00
IGL00913:Nop2	APN	6	125,116,784 (GRCm39)	missense	probably damaging	1.00
IGL02568:Nop2	APN	6	125,117,813 (GRCm39)	missense	probably damaging	1.00
IGL02850:Nop2	APN	6	125,121,033 (GRCm39)	missense	probably benign	0.01
IGL02850:Nop2	APN	6	125,121,048 (GRCm39)	missense	possibly damaging	0.67
IGL02851:Nop2	APN	6	125,121,033 (GRCm39)	missense	probably benign	0.01
IGL02851:Nop2	APN	6	125,121,048 (GRCm39)	missense	possibly damaging	0.67
IGL03144:Nop2	APN	6	125,114,475 (GRCm39)	critical splice donor site	probably null
IGL03338:Nop2	APN	6	125,116,695 (GRCm39)	splice site	probably null
R0211:Nop2	UTSW	6	125,118,307 (GRCm39)	missense	probably damaging	1.00
R0211:Nop2	UTSW	6	125,118,307 (GRCm39)	missense	probably damaging	1.00
R0486:Nop2	UTSW	6	125,117,636 (GRCm39)	missense	probably null	0.14
R0627:Nop2	UTSW	6	125,116,667 (GRCm39)	missense	possibly damaging	0.90
R1022:Nop2	UTSW	6	125,114,149 (GRCm39)	missense	probably benign	0.02
R1024:Nop2	UTSW	6	125,114,149 (GRCm39)	missense	probably benign	0.02
R1068:Nop2	UTSW	6	125,109,242 (GRCm39)	missense	probably damaging	0.99
R1750:Nop2	UTSW	6	125,114,601 (GRCm39)	missense	probably benign	0.00
R1847:Nop2	UTSW	6	125,114,042 (GRCm39)	unclassified	probably benign
R1940:Nop2	UTSW	6	125,111,597 (GRCm39)	missense	probably benign	0.43
R1972:Nop2	UTSW	6	125,111,602 (GRCm39)	missense	probably benign	0.02
R2059:Nop2	UTSW	6	125,116,823 (GRCm39)	missense	probably null	0.95
R2100:Nop2	UTSW	6	125,117,785 (GRCm39)	missense	probably damaging	1.00
R3123:Nop2	UTSW	6	125,109,164 (GRCm39)	utr 5 prime	probably benign
R3124:Nop2	UTSW	6	125,109,164 (GRCm39)	utr 5 prime	probably benign
R3160:Nop2	UTSW	6	125,111,555 (GRCm39)	missense	probably benign	0.00
R3162:Nop2	UTSW	6	125,111,555 (GRCm39)	missense	probably benign	0.00
R4521:Nop2	UTSW	6	125,110,515 (GRCm39)	missense	probably damaging	1.00
R4522:Nop2	UTSW	6	125,110,515 (GRCm39)	missense	probably damaging	1.00
R4523:Nop2	UTSW	6	125,110,515 (GRCm39)	missense	probably damaging	1.00
R4524:Nop2	UTSW	6	125,110,515 (GRCm39)	missense	probably damaging	1.00
R4571:Nop2	UTSW	6	125,117,844 (GRCm39)	critical splice donor site	probably null
R4695:Nop2	UTSW	6	125,121,519 (GRCm39)	missense	probably benign	0.00
R4747:Nop2	UTSW	6	125,114,057 (GRCm39)	missense	probably benign
R5010:Nop2	UTSW	6	125,110,726 (GRCm39)	missense	probably benign	0.00
R5385:Nop2	UTSW	6	125,121,324 (GRCm39)	missense	probably benign
R5455:Nop2	UTSW	6	125,117,606 (GRCm39)	missense	probably benign	0.19
R5567:Nop2	UTSW	6	125,110,726 (GRCm39)	missense	probably benign	0.00
R5993:Nop2	UTSW	6	125,120,982 (GRCm39)	missense	probably benign	0.00
R6031:Nop2	UTSW	6	125,110,529 (GRCm39)	critical splice donor site	probably null
R6031:Nop2	UTSW	6	125,110,529 (GRCm39)	critical splice donor site	probably null
R6065:Nop2	UTSW	6	125,121,528 (GRCm39)	missense	probably benign
R6352:Nop2	UTSW	6	125,114,170 (GRCm39)	missense	probably benign
R6436:Nop2	UTSW	6	125,114,274 (GRCm39)	missense	probably benign	0.01
R7393:Nop2	UTSW	6	125,110,509 (GRCm39)	nonsense	probably null
R7499:Nop2	UTSW	6	125,121,171 (GRCm39)	missense	possibly damaging	0.75
R8029:Nop2	UTSW	6	125,121,383 (GRCm39)	missense	possibly damaging	0.77
R8059:Nop2	UTSW	6	125,117,775 (GRCm39)	missense	probably damaging	0.98
R8445:Nop2	UTSW	6	125,111,567 (GRCm39)	missense	probably benign	0.00
R8898:Nop2	UTSW	6	125,114,118 (GRCm39)	missense	probably benign	0.00
R9087:Nop2	UTSW	6	125,114,391 (GRCm39)	missense	probably benign
R9200:Nop2	UTSW	6	125,117,843 (GRCm39)	critical splice donor site	probably null
R9587:Nop2	UTSW	6	125,117,785 (GRCm39)	missense	probably damaging	1.00
R9762:Nop2	UTSW	6	125,121,272 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCAGGCTCGAGGTAAGAAG -3'
(R):5'- AGGAGCCTGGACAATTTGG -3'

Sequencing Primer
(F):5'- TCGAGGTAAGAAGCGCCC -3'
(R):5'- GGCAGTGACACATTACCTGTAATC -3'

Posted On

2017-02-28