Mutagenetix > Incidental Mutations

Incidental Mutation 'R9412:Nrde2'

711872

Institutional Source

Beutler Lab

Gene Symbol

Nrde2

Ensembl Gene

ENSMUSG00000021179

Gene Name

nrde-2 necessary for RNA interference, domain containing

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9412 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100125452-100159653 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 100130422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1040 (E1040*)

Ref Sequence

ENSEMBL: ENSMUSP00000021596 (fasta)

Gene Model

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

AlphaFold

Q80XC6

Predicted Effect

probably null
Transcript: ENSMUST00000021596
AA Change: E1040*

SMART Domains

Protein: ENSMUSP00000021596
Gene: ENSMUSG00000021179
AA Change: E1040*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	A	8: 13,554,695	T203S	possibly damaging	Het
2310035C23Rik	A	G	1: 105,734,563	T936A	probably benign	Het
2700049A03Rik	G	A	12: 71,188,683	E1136K	possibly damaging	Het
Abca6	C	A	11: 110,212,233	R844L	probably damaging	Het
Abcb9	C	T	5: 124,083,690	R207Q	probably benign	Het
Abcd4	T	C	12: 84,608,807	R343G	probably damaging	Het
Arhgap45	T	A	10: 80,019,730	M1K	probably null	Het
Art3	A	G	5: 92,393,154	Y252C	probably damaging	Het
Ascc3	T	C	10: 50,649,134	M475T	probably benign	Het
Atxn2	C	T	5: 121,802,138	P992L	possibly damaging	Het
Dclk3	G	A	9: 111,482,751		probably null	Het
Ddx21	T	C	10: 62,594,102	T288A	possibly damaging	Het
Fat3	T	C	9: 15,997,407	D2433G	probably damaging	Het
Flnc	G	A	6: 29,441,485	R422Q	probably benign	Het
Fmnl2	G	T	2: 53,117,004	R776L	unknown	Het
Fndc1	T	A	17: 7,772,366	T833S	unknown	Het
Igf1r	T	A	7: 68,207,253	Y988N	probably damaging	Het
Ints2	T	C	11: 86,226,763	Y711C	probably damaging	Het
Irx5	A	G	8: 92,359,723	K145E	probably damaging	Het
Kdm5a	A	G	6: 120,389,030	Y377C	probably damaging	Het
Lrp1	T	A	10: 127,573,418	T1611S	probably damaging	Het
Lrrc28	T	A	7: 67,531,764	E241V	probably damaging	Het
Med23	T	C	10: 24,902,121	F789S	probably damaging	Het
Ncapd3	C	T	9: 27,056,155	Q596*	probably null	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Pcdh15	CAGAGA	CAGA	10: 74,645,831		probably null	Het
Pcm1	T	G	8: 41,287,751	N972K	probably damaging	Het
Peg10	C	CTCT	6: 4,756,453		probably benign	Het
Pla2g4a	T	C	1: 149,880,021	T222A	probably damaging	Het
Ptchd3	A	T	11: 121,841,953	K556N	possibly damaging	Het
Scap	T	C	9: 110,378,605	C461R	possibly damaging	Het
Scgb1b10	T	A	7: 32,101,202	L72*	probably null	Het
Serpinb6c	C	A	13: 33,897,388	A93S	probably benign	Het
Serpinb9c	C	A	13: 33,150,248	L298F	probably damaging	Het
Slf2	A	T	19: 44,942,021	E512D	probably benign	Het
Snapc3	C	T	4: 83,436,333	H194Y	probably benign	Het
Suox	T	A	10: 128,671,889	D90V	possibly damaging	Het
Supt20	TCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCA	3: 54,727,648		probably benign	Het
Tert	C	T	13: 73,648,927	R1095W	probably benign	Het
Unc13c	T	C	9: 73,932,490	I360V	probably benign	Het
Uqcc1	A	G	2: 155,851,409	C235R	probably benign	Het
Vmn2r9	T	A	5: 108,843,618	I626F	probably damaging	Het
Vmn2r90	T	G	17: 17,733,951	C792W	probably damaging	Het
Zcchc11	A	T	4: 108,557,364	H46L		Het
Zfp57	C	T	17: 37,009,922	P223S	probably benign	Het
Zfp787	T	C	7: 6,132,947	T102A	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
R5169:Nrde2	UTSW	12	100129293	critical splice donor site	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
R9468:Nrde2	UTSW	12	100140009	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCTAAAGCAGTCACACC -3'
(R):5'- GCATGATGCACACAAGCCTG -3'

Sequencing Primer
(F):5'- GCTAAAGCAGTCACACCAGGTG -3'
(R):5'- GCGATTCCACATGAACGTTTG -3'

Posted On

2022-05-16