Mutagenetix > Incidental Mutation

Incidental Mutation 'R5567:Nop2'

436916

Institutional Source

Beutler Lab

Gene Symbol

Nop2

Ensembl Gene

ENSMUSG00000038279

Gene Name

NOP2 nucleolar protein

Synonyms

Nol1, 120kDa

MMRRC Submission

043124-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R5567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125108872-125121716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125110726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 68 (S68P)

Ref Sequence

ENSEMBL: ENSMUSP00000145333 (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: S68P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: S68P

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
AA Change: S68P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000145333
Gene: ENSMUSG00000038279
AA Change: S68P

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

0.0610

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	T	6: 86,932,150 (GRCm39)	Q374*	probably null	Het
Adam19	A	G	11: 46,027,077 (GRCm39)	D570G	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Bltp3b	T	A	10: 89,644,383 (GRCm39)	M29K	probably benign	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cdh9	A	G	15: 16,855,930 (GRCm39)	T657A	probably damaging	Het
Cep104	T	C	4: 154,086,734 (GRCm39)	S794P	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Csmd3	A	T	15: 47,508,864 (GRCm39)	M2907K	possibly damaging	Het
Cspg4	A	C	9: 56,793,932 (GRCm39)	I556L	probably benign	Het
Cwf19l2	T	A	9: 3,456,831 (GRCm39)	D721E	probably damaging	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dna2	G	T	10: 62,802,452 (GRCm39)	A857S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,444,044 (GRCm39)	C619*	probably null	Het
Ftcd	A	G	10: 76,423,967 (GRCm39)	K503E	probably benign	Het
Gbp2b	C	T	3: 142,317,126 (GRCm39)	A494V	possibly damaging	Het
Gfral	C	T	9: 76,115,900 (GRCm39)	A25T	probably benign	Het
Gins2	T	A	8: 121,315,684 (GRCm39)	D24V	possibly damaging	Het
Gm10985	T	C	3: 53,752,683 (GRCm39)	I22T	probably damaging	Het
Golga4	T	A	9: 118,387,251 (GRCm39)	S1458T	probably damaging	Het
Gpatch1	T	C	7: 35,006,640 (GRCm39)	K176R	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Itpr3	C	T	17: 27,322,880 (GRCm39)	T1119M	possibly damaging	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Klk1b1	T	A	7: 43,620,593 (GRCm39)	S228T	probably damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Large1	A	G	8: 73,564,081 (GRCm39)	S562P	possibly damaging	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Lrriq1	G	A	10: 103,006,457 (GRCm39)	P1223S	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Morn2	A	G	17: 80,604,709 (GRCm39)	D128G	probably damaging	Het
Msl2	A	G	9: 100,978,936 (GRCm39)	K437E	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Mxra8	T	C	4: 155,925,465 (GRCm39)	M58T	probably damaging	Het
Myo16	A	G	8: 10,372,676 (GRCm39)	D125G	probably damaging	Het
Myom2	A	G	8: 15,152,546 (GRCm39)	Q631R	probably benign	Het
Nlrp1b	T	A	11: 71,072,229 (GRCm39)	H538L	probably benign	Het
Nme3	T	A	17: 25,115,823 (GRCm39)		probably null	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nub1	A	G	5: 24,913,814 (GRCm39)	E565G	possibly damaging	Het
Or1e19	C	T	11: 73,316,272 (GRCm39)	C179Y	probably damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or7e168	A	G	9: 19,719,674 (GRCm39)	D20G	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parl	A	G	16: 20,101,762 (GRCm39)	M90T	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Plb1	A	G	5: 32,521,543 (GRCm39)	T1465A	unknown	Het
Plxna4	T	C	6: 32,134,915 (GRCm39)	N1763D	possibly damaging	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Ralb	C	T	1: 119,411,265 (GRCm39)	V25I	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rnf43	A	G	11: 87,618,271 (GRCm39)	E187G	probably damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Scap	A	G	9: 110,206,712 (GRCm39)	S386G	probably damaging	Het
Skint10	T	C	4: 112,573,067 (GRCm39)	Y243C	probably damaging	Het
Stpg2	A	G	3: 139,125,547 (GRCm39)	T447A	probably benign	Het
Tas1r1	G	A	4: 152,122,782 (GRCm39)	A21V	probably damaging	Het
Tas2r122	C	T	6: 132,688,335 (GRCm39)	G186E	probably benign	Het
Tenm4	C	A	7: 96,545,416 (GRCm39)	Y2477*	probably null	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tmcc2	A	C	1: 132,285,543 (GRCm39)	S608A	probably benign	Het
Ttc41	T	C	10: 86,596,784 (GRCm39)		probably null	Het
Ttk	T	A	9: 83,744,588 (GRCm39)	N593K	possibly damaging	Het
Tulp1	A	G	17: 28,578,172 (GRCm39)	V289A	possibly damaging	Het
Unc93a2	T	C	17: 7,631,202 (GRCm39)	T456A	probably benign	Het
Usp34	A	C	11: 23,438,336 (GRCm39)	Q278P	probably damaging	Het
Vmn2r78	T	A	7: 86,570,737 (GRCm39)	D418E	probably benign	Het
Vmn2r90	C	T	17: 17,932,336 (GRCm39)	A81V	probably damaging	Het
Xpc	T	A	6: 91,475,117 (GRCm39)	N636I	probably damaging	Het
Zfp563	A	T	17: 33,308,431 (GRCm39)		probably benign	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
R5914:Nop2	UTSW	6	125,111,691 (GRCm39)	missense	probably benign	0.01
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'- AAGCGGTGAGTGTGAATCCG -3'
(R):5'- TTACCACGGCCTGAGCTATCTC -3'

Sequencing Primer
(F):5'- AATCCGCTGGTTTAGTGAGATTG -3'
(R):5'- CCCAGAGGATTCTTCACA -3'

Posted On

2016-10-24