Mutagenetix > Incidental Mutation

Incidental Mutation 'R9142:Nrde2'

694415

Institutional Source

Beutler Lab

Gene Symbol

Nrde2

Ensembl Gene

ENSMUSG00000021179

Gene Name

nrde-2 necessary for RNA interference, domain containing

Synonyms

MMRRC Submission

068934-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100125452-100159653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100151259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 47 (T47K)

Ref Sequence

ENSEMBL: ENSMUSP00000152698 (fasta)

Gene Model

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

AlphaFold

Q80XC6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021596
AA Change: T47K

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021596
Gene: ENSMUSG00000021179
AA Change: T47K

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
AA Change: T47K

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	T	A	7: 140,297,893	D929E	probably damaging	Het
Adprhl2	C	A	4: 126,321,567	G35V	probably damaging	Het
Apob	A	C	12: 8,012,705	D3729A	possibly damaging	Het
App	G	A	16: 85,103,239	H108Y	probably damaging	Het
Arap3	G	A	18: 37,979,881	A1092V	possibly damaging	Het
Arid3a	T	C	10: 79,951,778	S550P	unknown	Het
Armc2	T	G	10: 41,975,408	E259D	probably benign	Het
Atp13a2	A	G	4: 141,002,053	D566G	probably damaging	Het
Bnc2	A	G	4: 84,555,874	C12R	probably benign	Het
Btbd16	C	T	7: 130,815,786	R344C	probably damaging	Het
Cc2d2b	C	T	19: 40,765,401	R123*	probably null	Het
Cdc37l1	T	A	19: 29,012,002	H286Q	possibly damaging	Het
Cfap54	A	T	10: 92,984,235	L1239Q	possibly damaging	Het
Cfap58	T	C	19: 47,986,554		probably null	Het
Col6a3	A	T	1: 90,778,844	D2789E	unknown	Het
Ctnna2	G	T	6: 76,902,440		probably benign	Het
Dazl	A	G	17: 50,283,150	V271A	probably benign	Het
Dennd4c	A	T	4: 86,837,400	N1610Y	probably benign	Het
Dusp13	T	A	14: 21,742,688	K56N	probably benign	Het
Erbb2	T	A	11: 98,422,058	I149N	probably damaging	Het
Erbb4	A	T	1: 68,349,393	C217S	probably damaging	Het
Fbxw21	A	G	9: 109,156,345	C122R	probably damaging	Het
Fktn	G	A	4: 53,734,854	G125D	probably benign	Het
Foxm1	T	A	6: 128,367,335	I182N	probably damaging	Het
Ggnbp2	T	C	11: 84,840,060	N381S	possibly damaging	Het
Gja3	T	C	14: 57,036,591	E108G	probably benign	Het
Gm40460	C	A	7: 142,240,762	G106V	unknown	Het
Gm9736	A	G	10: 77,751,015	C114R	unknown	Het
Gpbp1	A	T	13: 111,426,499	D492E	unknown	Het
Gper1	T	C	5: 139,426,557	V219A	possibly damaging	Het
Gtf2e1	C	T	16: 37,536,002	R56Q	probably benign	Het
Hist1h2af	T	C	13: 23,533,981	L24P	probably damaging	Het
Ide	T	C	19: 37,330,499	N38S		Het
Kat6a	T	A	8: 22,940,056	M1809K	unknown	Het
Kdm2b	A	T	5: 122,989,049		probably benign	Het
Kif7	A	T	7: 79,706,837	M702K	probably benign	Het
Lrrtm4	T	A	6: 80,022,443	N279K	probably damaging	Het
Mcrip1	G	A	11: 120,544,716	P31L	probably damaging	Het
Nf1	T	A	11: 79,471,489	S1497R	probably damaging	Het
Nf1	T	A	11: 79,475,862	I1607N	probably damaging	Het
Olfr1135	C	T	2: 87,671,969	V133I	probably benign	Het
Olfr1415	T	G	1: 92,491,689	E22A	probably benign	Het
Olfr802	T	C	10: 129,682,416	T108A	probably benign	Het
Ppargc1a	G	A	5: 51,494,804	T184I	possibly damaging	Het
Ppp1r15a	T	C	7: 45,524,496	D296G	probably damaging	Het
Prl7c1	C	T	13: 27,780,768		probably benign	Het
Prss42	G	T	9: 110,799,160	R124L	possibly damaging	Het
Psmd1	T	G	1: 86,137,095	Y950D	probably damaging	Het
Ptprr	A	T	10: 116,188,214	L250F	possibly damaging	Het
Rabgef1	T	A	5: 130,208,713	M208K	possibly damaging	Het
Rps6ka2	A	G	17: 7,170,394	Y17C	probably damaging	Het
Rrnad1	A	G	3: 87,923,888	I444T	probably benign	Het
Sec23ip	T	A	7: 128,761,502	C463S	probably damaging	Het
Serpina3n	A	G	12: 104,413,451	T368A	probably damaging	Het
Sez6l	C	T	5: 112,461,217	A589T	probably benign	Het
Smok2b	G	A	17: 13,234,750		probably null	Het
Spag5	T	A	11: 78,301,997	Y52N	possibly damaging	Het
Tenm3	G	A	8: 48,335,513	S494L	unknown	Het
Top3b	T	C	16: 16,883,435	Y204H	probably damaging	Het
Trim43b	C	T	9: 89,091,399	V94M	possibly damaging	Het
Trps1	T	G	15: 50,661,262	I1091L	probably damaging	Het
Ttk	G	A	9: 83,843,688	R221Q	probably damaging	Het
Ttn	A	C	2: 76,719,122	M31737R	probably damaging	Het
Uso1	T	A	5: 92,187,266	L495*	probably null	Het
Usp19	A	G	9: 108,495,085	D447G	possibly damaging	Het
Zdhhc2	A	G	8: 40,467,522	E274G	probably damaging	Het
Zfp106	T	A	2: 120,520,454	Y1595F	probably damaging	Het
Zfp932	A	T	5: 110,009,654	H406L	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
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

Predicted Primers

PCR Primer
(F):5'- TTAGGAAGATGGTCACAGATTGCC -3'
(R):5'- ATTCCACTTGGTTTCTGCGG -3'

Sequencing Primer
(F):5'- AGATTGCCTGGTCCACTGG -3'
(R):5'- ACTGCACAAGATACTGGCTG -3'

Posted On

2022-01-20