Mutagenetix > Incidental Mutation

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

BC002230, 6720454P05Rik

MMRRC Submission

042749-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100091711-100125912 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 100095552 bp (GRCm39)

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: 118,841,552 (GRCm39)	Y964*	probably null	Het
Acsbg2	T	C	17: 57,156,913 (GRCm39)	K375R	probably benign	Het
Ago4	C	A	4: 126,405,520 (GRCm39)	R415L	probably benign	Het
Alpk1	A	T	3: 127,464,750 (GRCm39)	I1176N	probably damaging	Het
Arhgap25	A	T	6: 87,440,252 (GRCm39)	I465N	possibly damaging	Het
Arhgef10	A	G	8: 14,980,051 (GRCm39)	D97G	possibly damaging	Het
Cdc37	T	A	9: 21,052,413 (GRCm39)	M299L	probably benign	Het
Ddx54	C	A	5: 120,761,328 (GRCm39)	H453Q	probably damaging	Het
Dip2b	T	C	15: 100,102,994 (GRCm39)	Y1102H	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dop1a	T	C	9: 86,415,074 (GRCm39)	F1939L	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ints7	T	C	1: 191,345,202 (GRCm39)	F631L	probably benign	Het
Itih1	A	T	14: 30,655,403 (GRCm39)	Y597*	probably null	Het
Kctd1	T	C	18: 15,195,822 (GRCm39)	E267G	possibly damaging	Het
Lrrc8e	A	G	8: 4,284,329 (GRCm39)	T185A	probably benign	Het
Maco1	T	C	4: 134,555,774 (GRCm39)	H233R	probably benign	Het
Masp2	T	C	4: 148,690,571 (GRCm39)	I276T	probably damaging	Het
Med17	A	T	9: 15,188,900 (GRCm39)	F122I	probably benign	Het
Milr1	C	T	11: 106,645,754 (GRCm39)	R99*	probably null	Het
Mpp4	T	C	1: 59,169,256 (GRCm39)		probably null	Het
Ms4a4d	C	T	19: 11,535,340 (GRCm39)	P213S	possibly damaging	Het
Mtcl1	T	C	17: 66,650,818 (GRCm39)	N1100S	probably benign	Het
Myom3	T	C	4: 135,502,889 (GRCm39)	I322T	probably benign	Het
Nav2	C	T	7: 49,198,231 (GRCm39)	Q1287*	probably null	Het
Nr3c2	A	T	8: 77,635,666 (GRCm39)	N256Y	probably damaging	Het
Otog	G	T	7: 45,947,572 (GRCm39)	A2242S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	T	C	3: 49,710,415 (GRCm39)	D300G	possibly damaging	Het
Pcdh8	G	A	14: 80,005,095 (GRCm39)	P880S	probably benign	Het
Pcid2	A	G	8: 13,129,632 (GRCm39)		probably null	Het
Phkb	A	G	8: 86,623,120 (GRCm39)	H148R	probably benign	Het
Pik3r4	T	C	9: 105,555,360 (GRCm39)	S1106P	probably benign	Het
Pnpla7	A	T	2: 24,940,321 (GRCm39)	M1067L	probably benign	Het
Pp2d1	C	A	17: 53,814,930 (GRCm39)	G598V	possibly damaging	Het
Ppm1d	C	T	11: 85,223,196 (GRCm39)	A267V	probably damaging	Het
Psg29	C	T	7: 16,945,578 (GRCm39)	P383S	probably damaging	Het
Rc3h2	A	T	2: 37,295,324 (GRCm39)	F231I	probably damaging	Het
Rpl14	T	A	9: 120,401,254 (GRCm39)	D32E	possibly damaging	Het
Rpl32	G	T	6: 115,783,949 (GRCm39)	N92K	probably benign	Het
Rragc	A	G	4: 123,829,457 (GRCm39)	N391S	probably damaging	Het
Ryr3	C	T	2: 112,501,005 (GRCm39)	E3563K	possibly damaging	Het
Sh3rf2	A	G	18: 42,286,126 (GRCm39)	M508V	probably benign	Het
Shoc1	T	A	4: 59,059,618 (GRCm39)	Y1014F	possibly damaging	Het
Slc24a3	G	A	2: 145,482,184 (GRCm39)	C614Y	probably benign	Het
Spata31d1b	T	C	13: 59,864,309 (GRCm39)	S486P	probably damaging	Het
Spi1	A	T	2: 90,945,428 (GRCm39)	K170*	probably null	Het
Srgn	C	A	10: 62,330,866 (GRCm39)	D80Y	probably damaging	Het
St6galnac6	A	G	2: 32,504,857 (GRCm39)	K87R	possibly damaging	Het
Sytl3	A	T	17: 6,982,945 (GRCm39)	K134*	probably null	Het
Szt2	T	C	4: 118,247,027 (GRCm39)	T863A	probably benign	Het
Tcea3	A	T	4: 135,992,181 (GRCm39)		probably null	Het
Tg	T	A	15: 66,550,629 (GRCm39)	L253*	probably null	Het
Timm8a2	T	A	14: 122,272,138 (GRCm39)	S14T	probably benign	Het
Tppp3	G	C	8: 106,194,501 (GRCm39)	N166K	probably benign	Het
Trav2	G	A	14: 52,804,759 (GRCm39)	V4M	probably benign	Het
Trmt5	T	C	12: 73,329,495 (GRCm39)	D221G	probably damaging	Het
Ttc27	T	A	17: 75,054,690 (GRCm39)	L332*	probably null	Het
V1rd19	A	G	7: 23,703,209 (GRCm39)	N225S	possibly damaging	Het
Wdr20rt	A	T	12: 65,274,184 (GRCm39)	Q448L	probably damaging	Het
Zc3h7b	A	T	15: 81,657,515 (GRCm39)	N185I	probably benign	Het
Zmpste24	A	T	4: 120,925,914 (GRCm39)	I351N	probably damaging	Het

Other mutations in Nrde2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02207:Nrde2	APN	12	100,097,190 (GRCm39)	missense	probably benign	0.01
IGL02697:Nrde2	APN	12	100,097,466 (GRCm39)	missense	probably damaging	1.00
IGL02798:Nrde2	APN	12	100,110,081 (GRCm39)	nonsense	probably null
IGL02810:Nrde2	APN	12	100,110,017 (GRCm39)	missense	possibly damaging	0.81
IGL02814:Nrde2	APN	12	100,110,394 (GRCm39)	missense	probably null	0.80
IGL02990:Nrde2	APN	12	100,108,355 (GRCm39)	missense	probably damaging	1.00
kurtz	UTSW	12	100,100,664 (GRCm39)	missense	possibly damaging	0.92
R0090:Nrde2	UTSW	12	100,095,545 (GRCm39)	splice site	probably benign
R0576:Nrde2	UTSW	12	100,098,492 (GRCm39)	missense	possibly damaging	0.82
R0646:Nrde2	UTSW	12	100,110,105 (GRCm39)	nonsense	probably null
R1130:Nrde2	UTSW	12	100,091,929 (GRCm39)	missense	probably damaging	0.97
R1216:Nrde2	UTSW	12	100,116,069 (GRCm39)	splice site	probably benign
R1661:Nrde2	UTSW	12	100,116,119 (GRCm39)	missense	probably benign	0.19
R2069:Nrde2	UTSW	12	100,108,491 (GRCm39)	missense	probably damaging	1.00
R4405:Nrde2	UTSW	12	100,096,843 (GRCm39)	missense	probably benign	0.01
R4422:Nrde2	UTSW	12	100,112,286 (GRCm39)	nonsense	probably null
R5200:Nrde2	UTSW	12	100,096,756 (GRCm39)	missense	possibly damaging	0.77
R5338:Nrde2	UTSW	12	100,097,037 (GRCm39)	missense	probably damaging	1.00
R5512:Nrde2	UTSW	12	100,108,509 (GRCm39)	missense	probably benign	0.20
R5820:Nrde2	UTSW	12	100,098,546 (GRCm39)	missense	probably benign	0.00
R6019:Nrde2	UTSW	12	100,098,501 (GRCm39)	missense	probably benign	0.04
R6346:Nrde2	UTSW	12	100,098,565 (GRCm39)	missense	probably benign	0.01
R6378:Nrde2	UTSW	12	100,097,016 (GRCm39)	missense	probably damaging	0.99
R6479:Nrde2	UTSW	12	100,110,207 (GRCm39)	missense	probably benign	0.00
R6523:Nrde2	UTSW	12	100,100,664 (GRCm39)	missense	possibly damaging	0.92
R7073:Nrde2	UTSW	12	100,098,747 (GRCm39)	missense	probably benign	0.00
R7220:Nrde2	UTSW	12	100,097,178 (GRCm39)	missense	probably benign	0.05
R7412:Nrde2	UTSW	12	100,108,509 (GRCm39)	nonsense	probably null
R7505:Nrde2	UTSW	12	100,098,757 (GRCm39)	missense	probably benign	0.15
R7699:Nrde2	UTSW	12	100,097,094 (GRCm39)	missense	probably benign	0.16
R7700:Nrde2	UTSW	12	100,097,094 (GRCm39)	missense	probably benign	0.16
R7733:Nrde2	UTSW	12	100,110,399 (GRCm39)	missense	possibly damaging	0.92
R7868:Nrde2	UTSW	12	100,097,446 (GRCm39)	missense	possibly damaging	0.65
R7963:Nrde2	UTSW	12	100,116,127 (GRCm39)	missense	probably damaging	0.99
R8131:Nrde2	UTSW	12	100,108,502 (GRCm39)	missense	probably benign	0.02
R8213:Nrde2	UTSW	12	100,097,262 (GRCm39)	missense	probably benign
R9061:Nrde2	UTSW	12	100,110,123 (GRCm39)	missense	probably benign	0.00
R9142:Nrde2	UTSW	12	100,117,518 (GRCm39)	missense	probably benign	0.15
R9371:Nrde2	UTSW	12	100,092,477 (GRCm39)	missense	probably benign	0.09
R9412:Nrde2	UTSW	12	100,096,681 (GRCm39)	nonsense	probably null
R9468:Nrde2	UTSW	12	100,106,268 (GRCm39)	missense	probably benign	0.00
R9542:Nrde2	UTSW	12	100,110,426 (GRCm39)	missense	probably damaging	0.97

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