Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02990:Nrde2'

406898

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrde2

Ensembl Gene

ENSMUSG00000021179

Gene Name

nrde-2 necessary for RNA interference, domain containing

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02990

Quality Score

Status

Chromosome

Chromosomal Location

100125452-100159653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100142096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 412 (E412G)

Ref Sequence

ENSEMBL: ENSMUSP00000021596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021596] [ENSMUST00000221954]

AlphaFold

Q80XC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000021596
AA Change: E412G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021596
Gene: ENSMUSG00000021179
AA Change: E412G

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

probably benign
Transcript: ENSMUST00000221954

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	G	T	11: 69,163,206	V205F	probably benign	Het
Ampd3	T	C	7: 110,807,963		probably benign	Het
Arhgef18	G	A	8: 3,444,904	V388I	probably benign	Het
Atp6v1c2	C	T	12: 17,294,740	V169I	probably damaging	Het
Ccdc88b	G	T	19: 6,847,409	L1328I	probably damaging	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Cluh	G	A	11: 74,667,765		probably null	Het
Cpsf7	C	A	19: 10,531,795	N23K	probably benign	Het
Cyp4x1	A	T	4: 115,121,749	F191L	probably benign	Het
Dcn	A	G	10: 97,509,973	T216A	probably benign	Het
Dirc2	C	A	16: 35,735,491	V200F	possibly damaging	Het
Drosha	C	T	15: 12,827,267		probably benign	Het
Foxn4	A	G	5: 114,272,989	S24P	probably damaging	Het
Gm11733	A	T	11: 117,486,983		probably null	Het
Hapln1	A	C	13: 89,601,606	Y90S	probably benign	Het
Igf2r	C	A	17: 12,710,746		probably benign	Het
Jade2	A	G	11: 51,831,247		probably benign	Het
Kcnh7	A	T	2: 62,705,986	L1084H	probably benign	Het
Kif1a	T	C	1: 93,039,263	D1155G	probably damaging	Het
Llgl2	A	G	11: 115,854,333	M958V	probably benign	Het
Lrp2	A	G	2: 69,441,396	V4064A	possibly damaging	Het
Mau2	A	G	8: 70,022,255		probably benign	Het
Mllt10	T	C	2: 18,123,711		probably benign	Het
Myo15	A	G	11: 60,479,440	T1009A	probably benign	Het
Myo6	T	C	9: 80,276,403		probably null	Het
Neil2	G	T	14: 63,191,809	H12N	possibly damaging	Het
Olfr114	C	T	17: 37,589,668	M228I	probably benign	Het
Olfr1220	T	C	2: 89,097,129	Y266C	possibly damaging	Het
Patl2	T	G	2: 122,124,497		probably null	Het
Pkhd1	T	C	1: 20,522,963	H1642R	possibly damaging	Het
Ppp6r1	A	G	7: 4,643,023	I199T	possibly damaging	Het
Prom2	T	A	2: 127,528,814	T817S	probably benign	Het
Slc9b1	A	G	3: 135,394,983		probably null	Het
Sv2c	A	T	13: 96,088,378	I141K	probably damaging	Het
Tas2r139	A	T	6: 42,141,104	I57F	probably damaging	Het
Tep1	A	G	14: 50,868,246	S106P	possibly damaging	Het
Tnni3k	T	C	3: 154,957,758	D319G	probably benign	Het
Tom1l2	C	T	11: 60,230,236	D461N	probably damaging	Het
Ugt1a10	T	C	1: 88,055,879	L133S	probably damaging	Het
Usf2	T	G	7: 30,955,307	Q161P	probably benign	Het
Vmn1r15	A	G	6: 57,258,608	T154A	probably benign	Het
Vmn2r95	C	A	17: 18,452,036	Y678*	probably null	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
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
R9412:Nrde2	UTSW	12	100130422	nonsense	probably null
R9468:Nrde2	UTSW	12	100140009	missense	probably benign	0.00
R9542:Nrde2	UTSW	12	100144167	missense	probably damaging	0.97

Posted On

2016-08-02