Mutagenetix > Incidental Mutations

Incidental Mutation 'R7393:Nop2'

573590

Institutional Source

Beutler Lab

Gene Symbol

Nop2

Ensembl Gene

ENSMUSG00000038279

Gene Name

NOP2 nucleolar protein

Synonyms

120kDa, Nol1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125131909-125144753 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 125133546 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 45 (S45*)

Ref Sequence

ENSEMBL: ENSMUSP00000047123 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000044200
AA Change: S45*

SMART Domains

Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: S45*

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
AA Change: S45*

SMART Domains

Protein: ENSMUSP00000145333
Gene: ENSMUSG00000038279
AA Change: S45*

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010107E04Rik	A	G	12: 111,963,277	V26A	probably benign	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Abi2	T	C	1: 60,434,382	M86T	possibly damaging	Het
Adam26a	T	C	8: 43,569,688	N255S	probably benign	Het
Adam4	G	A	12: 81,419,660	S729L	probably benign	Het
Adcy1	G	T	11: 7,137,381	W418C	probably damaging	Het
Add2	T	A	6: 86,098,647	Y259*	probably null	Het
Agl	A	T	3: 116,791,156	C172S	probably benign	Het
Ankfy1	A	G	11: 72,738,308	T319A	possibly damaging	Het
Armc8	A	T	9: 99,483,999	C621S	possibly damaging	Het
Bbc3	A	G	7: 16,313,789	D146G	probably benign	Het
Btnl10	T	C	11: 58,923,706	L404P	probably damaging	Het
Cbl	A	G	9: 44,154,188		probably null	Het
Ccdc170	T	A	10: 4,514,314		probably null	Het
Ccdc91	T	A	6: 147,534,029	V37E	possibly damaging	Het
Ces1e	G	T	8: 93,210,417	T343K	probably benign	Het
Chfr	T	A	5: 110,152,358	F323I	probably damaging	Het
Clcnkb	T	A	4: 141,409,445	M370L	probably benign	Het
Col11a1	A	G	3: 114,097,106	D364G	unknown	Het
Ctbp2	A	G	7: 132,988,292	I381T	probably benign	Het
Cyp4a29	A	C	4: 115,242,196	Y38S	probably damaging	Het
Ddx1	T	C	12: 13,230,353	D382G	probably benign	Het
Dhx57	T	A	17: 80,255,571	N876Y	probably damaging	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fam234a	T	C	17: 26,216,624	D262G	probably benign	Het
Fnbp4	C	A	2: 90,779,316	Q1035K	probably damaging	Het
Gbp11	T	A	5: 105,327,577	N302Y	possibly damaging	Het
Gm11554	T	A	11: 99,803,872	T172S	unknown	Het
Hamp2	A	T	7: 30,922,605	M53K	possibly damaging	Het
Kcnj1	A	G	9: 32,397,018	D246G	probably damaging	Het
Kctd20	T	C	17: 28,963,338	F209L	probably damaging	Het
Klra2	T	C	6: 131,230,202	Y148C	probably damaging	Het
Krtap15	T	C	16: 88,829,097		probably null	Het
Mrps23	T	C	11: 88,204,458	L6P	probably damaging	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo7a	G	A	7: 98,063,699	R1690C	possibly damaging	Het
Nbas	T	C	12: 13,393,492	S1183P	probably damaging	Het
Ndufaf4	T	A	4: 24,903,177	M122K	probably benign	Het
Nop56	T	A	2: 130,274,638	L3Q	probably benign	Het
Nrp2	T	C	1: 62,745,424	I244T	probably damaging	Het
Olfr1426	T	A	19: 12,088,628	T55S	probably benign	Het
Olfr620	A	G	7: 103,611,991	S121P	possibly damaging	Het
Otof	T	C	5: 30,370,270	D1941G	probably benign	Het
Pcyox1l	T	C	18: 61,697,641	K387E	probably benign	Het
Plcg2	A	G	8: 117,579,825	Y306C	possibly damaging	Het
Ppp1r13b	G	A	12: 111,838,754	P333S	probably damaging	Het
Rcc2	A	G	4: 140,717,030	D344G	probably damaging	Het
Reln	A	T	5: 21,976,351	N1810K	probably damaging	Het
Rfesd	G	T	13: 76,003,030	A90E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,917		probably benign	Het
Scg2	T	C	1: 79,435,231	K552E	probably damaging	Het
Sdccag8	A	G	1: 176,840,306	I190V	probably benign	Het
Sele	C	A	1: 164,053,923	T533K	probably benign	Het
Sh3bp4	T	A	1: 89,144,448	H339Q	possibly damaging	Het
Slc6a19	A	G	13: 73,692,974	S106P	probably benign	Het
Spidr	C	T	16: 16,146,831		probably benign	Het
Stk36	A	T	1: 74,611,193	K295*	probably null	Het
Synj1	A	T	16: 90,951,999	D1056E	probably damaging	Het
Tnks1bp1	T	C	2: 85,062,866	S1046P	probably benign	Het
Ttc27	T	G	17: 74,770,264	F385V	possibly damaging	Het
Ttn	C	A	2: 76,944,345	G2164W	unknown	Het
Ubap1	T	A	4: 41,379,764	L326*	probably null	Het
Ubr4	A	G	4: 139,426,785	N812S	probably damaging	Het
Vmn1r160	A	G	7: 22,871,353	T44A	possibly damaging	Het
Vmn1r28	G	A	6: 58,265,589	S139N	possibly damaging	Het
Vmn2r116	A	G	17: 23,386,125	I137M	probably benign	Het
Vmn2r67	A	T	7: 85,155,878	W9R	probably null	Het
Zfp101	T	C	17: 33,386,700	N45D	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
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
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'- TTTGGCTTAGGGACGTCAACAG -3'

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

Posted On

2019-09-13