Mutagenetix > Incidental Mutations

Incidental Mutation 'R5169:Nrde2'

397464

Institutional Source

Beutler Lab

Gene Symbol

Nrde2

Ensembl Gene

ENSMUSG00000021179

Gene Name

nrde-2 necessary for RNA interference, domain containing

Synonyms

MMRRC Submission

042749-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100125452-100159653 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 100129293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021596]

AlphaFold

Q80XC6

Predicted Effect

probably null
Transcript: ENSMUST00000021596

SMART Domains

Protein: ENSMUSP00000021596
Gene: ENSMUSG00000021179

Domain	Start	End	E-Value	Type
low complexity region	85	107	N/A	INTRINSIC
low complexity region	146	154	N/A	INTRINSIC
Pfam:NRDE-2	318	658	1.2e-107	PFAM
Blast:HAT	765	800	2e-10	BLAST
Blast:HAT	802	841	3e-16	BLAST
Blast:HAT	986	1018	3e-10	BLAST
Blast:HAT	1075	1109	1e-14	BLAST
Blast:HAT	1111	1143	8e-15	BLAST
low complexity region	1154	1171	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223314

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,877,817	Y964*	probably null	Het
Acsbg2	T	C	17: 56,849,913	K375R	probably benign	Het
Ago4	C	A	4: 126,511,727	R415L	probably benign	Het
AI481877	T	A	4: 59,059,618	Y1014F	possibly damaging	Het
Alpk1	A	T	3: 127,671,101	I1176N	probably damaging	Het
Arhgap25	A	T	6: 87,463,270	I465N	possibly damaging	Het
Arhgef10	A	G	8: 14,930,051	D97G	possibly damaging	Het
Cdc37	T	A	9: 21,141,117	M299L	probably benign	Het
Ddx54	C	A	5: 120,623,263	H453Q	probably damaging	Het
Dip2b	T	C	15: 100,205,113	Y1102H	probably damaging	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Dopey1	T	C	9: 86,533,021	F1939L	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Ints7	T	C	1: 191,613,090	F631L	probably benign	Het
Itih1	A	T	14: 30,933,446	Y597*	probably null	Het
Kctd1	T	C	18: 15,062,765	E267G	possibly damaging	Het
Lrrc8e	A	G	8: 4,234,329	T185A	probably benign	Het
Masp2	T	C	4: 148,606,114	I276T	probably damaging	Het
Med17	A	T	9: 15,277,604	F122I	probably benign	Het
Milr1	C	T	11: 106,754,928	R99*	probably null	Het
Mpp4	T	C	1: 59,130,097		probably null	Het
Ms4a4d	C	T	19: 11,557,976	P213S	possibly damaging	Het
Mtcl1	T	C	17: 66,343,823	N1100S	probably benign	Het
Myom3	T	C	4: 135,775,578	I322T	probably benign	Het
Nav2	C	T	7: 49,548,483	Q1287*	probably null	Het
Nr3c2	A	T	8: 76,909,037	N256Y	probably damaging	Het
Otog	G	T	7: 46,298,148	A2242S	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdh18	T	C	3: 49,755,966	D300G	possibly damaging	Het
Pcdh8	G	A	14: 79,767,655	P880S	probably benign	Het
Pcid2	A	G	8: 13,079,632		probably null	Het
Phkb	A	G	8: 85,896,491	H148R	probably benign	Het
Pik3r4	T	C	9: 105,678,161	S1106P	probably benign	Het
Pnpla7	A	T	2: 25,050,309	M1067L	probably benign	Het
Pp2d1	C	A	17: 53,507,902	G598V	possibly damaging	Het
Ppm1d	C	T	11: 85,332,370	A267V	probably damaging	Het
Psg29	C	T	7: 17,211,653	P383S	probably damaging	Het
Rc3h2	A	T	2: 37,405,312	F231I	probably damaging	Het
Rpl14	T	A	9: 120,572,188	D32E	possibly damaging	Het
Rpl32	G	T	6: 115,806,988	N92K	probably benign	Het
Rragc	A	G	4: 123,935,664	N391S	probably damaging	Het
Ryr3	C	T	2: 112,670,660	E3563K	possibly damaging	Het
Sh3rf2	A	G	18: 42,153,061	M508V	probably benign	Het
Slc24a3	G	A	2: 145,640,264	C614Y	probably benign	Het
Spata31d1b	T	C	13: 59,716,495	S486P	probably damaging	Het
Spi1	A	T	2: 91,115,083	K170*	probably null	Het
Srgn	C	A	10: 62,495,087	D80Y	probably damaging	Het
St6galnac6	A	G	2: 32,614,845	K87R	possibly damaging	Het
Sytl3	A	T	17: 6,715,546	K134*	probably null	Het
Szt2	T	C	4: 118,389,830	T863A	probably benign	Het
Tcea3	A	T	4: 136,264,870		probably null	Het
Tg	T	A	15: 66,678,780	L253*	probably null	Het
Timm8a2	T	A	14: 122,034,726	S14T	probably benign	Het
Tmem57	T	C	4: 134,828,463	H233R	probably benign	Het
Tppp3	G	C	8: 105,467,869	N166K	probably benign	Het
Trav2	G	A	14: 52,567,302	V4M	probably benign	Het
Trmt5	T	C	12: 73,282,721	D221G	probably damaging	Het
Ttc27	T	A	17: 74,747,695	L332*	probably null	Het
V1rd19	A	G	7: 24,003,784	N225S	possibly damaging	Het
Wdr20rt	A	T	12: 65,227,410	Q448L	probably damaging	Het
Zc3h7b	A	T	15: 81,773,314	N185I	probably benign	Het
Zmpste24	A	T	4: 121,068,717	I351N	probably damaging	Het

Other mutations in Nrde2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02207:Nrde2	APN	12	100130931	missense	probably benign	0.01
IGL02697:Nrde2	APN	12	100131207	missense	probably damaging	1.00
IGL02798:Nrde2	APN	12	100143822	nonsense	probably null
IGL02810:Nrde2	APN	12	100143758	missense	possibly damaging	0.81
IGL02814:Nrde2	APN	12	100144135	missense	probably null	0.80
IGL02990:Nrde2	APN	12	100142096	missense	probably damaging	1.00
kurtz	UTSW	12	100134405	missense	possibly damaging	0.92
R0090:Nrde2	UTSW	12	100129286	splice site	probably benign
R0576:Nrde2	UTSW	12	100132233	missense	possibly damaging	0.82
R0646:Nrde2	UTSW	12	100143846	nonsense	probably null
R1130:Nrde2	UTSW	12	100125670	missense	probably damaging	0.97
R1216:Nrde2	UTSW	12	100149810	splice site	probably benign
R1661:Nrde2	UTSW	12	100149860	missense	probably benign	0.19
R2069:Nrde2	UTSW	12	100142232	missense	probably damaging	1.00
R4405:Nrde2	UTSW	12	100130584	missense	probably benign	0.01
R4422:Nrde2	UTSW	12	100146027	nonsense	probably null
R5200:Nrde2	UTSW	12	100130497	missense	possibly damaging	0.77
R5338:Nrde2	UTSW	12	100130778	missense	probably damaging	1.00
R5512:Nrde2	UTSW	12	100142250	missense	probably benign	0.20
R5820:Nrde2	UTSW	12	100132287	missense	probably benign	0.00
R6019:Nrde2	UTSW	12	100132242	missense	probably benign	0.04
R6346:Nrde2	UTSW	12	100132306	missense	probably benign	0.01
R6378:Nrde2	UTSW	12	100130757	missense	probably damaging	0.99
R6479:Nrde2	UTSW	12	100143948	missense	probably benign	0.00
R6523:Nrde2	UTSW	12	100134405	missense	possibly damaging	0.92
R7073:Nrde2	UTSW	12	100132488	missense	probably benign	0.00
R7220:Nrde2	UTSW	12	100130919	missense	probably benign	0.05
R7412:Nrde2	UTSW	12	100142250	nonsense	probably null
R7505:Nrde2	UTSW	12	100132498	missense	probably benign	0.15
R7699:Nrde2	UTSW	12	100130835	missense	probably benign	0.16
R7700:Nrde2	UTSW	12	100130835	missense	probably benign	0.16
R7733:Nrde2	UTSW	12	100144140	missense	possibly damaging	0.92
R7868:Nrde2	UTSW	12	100131187	missense	possibly damaging	0.65
R7963:Nrde2	UTSW	12	100149868	missense	probably damaging	0.99
R8131:Nrde2	UTSW	12	100142243	missense	probably benign	0.02
R8213:Nrde2	UTSW	12	100131003	missense	probably benign
R9061:Nrde2	UTSW	12	100143864	missense	probably benign	0.00
R9142:Nrde2	UTSW	12	100151259	missense	probably benign	0.15
R9371:Nrde2	UTSW	12	100126218	missense	probably benign	0.09
R9412:Nrde2	UTSW	12	100130422	nonsense	probably null
R9468:Nrde2	UTSW	12	100140009	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCTTCCAAACATCCTGAAAGAGG -3'
(R):5'- GAAGTATGTCTTCCCGCTGG -3'

Sequencing Primer
(F):5'- AGAGGAGACACCGCTCAGTC -3'
(R):5'- TCGGGCACAGAACCTGTCTTAG -3'

Posted On

2016-07-06