Mutagenetix > Incidental Mutation

Incidental Mutation 'R3803:Ndrg2'

274446

Institutional Source

Beutler Lab

Gene Symbol

Ndrg2

Ensembl Gene

ENSMUSG00000004558

Gene Name

N-myc downstream regulated gene 2

Synonyms

Ndr2

MMRRC Submission

040878-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.483) question?

Stock #

R3803 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52142728-52151461 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to A at 52148132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004673] [ENSMUST00000111632] [ENSMUST00000226184] [ENSMUST00000226528] [ENSMUST00000227237] [ENSMUST00000227402] [ENSMUST00000228164]

AlphaFold

Q9QYG0

Predicted Effect

probably null
Transcript: ENSMUST00000004673

SMART Domains

Protein: ENSMUSP00000004673
Gene: ENSMUSG00000004558

Domain	Start	End	E-Value	Type
Pfam:Ndr	40	318	5.4e-125	PFAM
low complexity region	323	338	N/A	INTRINSIC
low complexity region	342	355	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111632

SMART Domains

Protein: ENSMUSP00000107259
Gene: ENSMUSG00000004558

Domain	Start	End	E-Value	Type
Pfam:Ndr	26	304	4.7e-125	PFAM
Pfam:Abhydrolase_6	58	292	7.6e-11	PFAM
low complexity region	309	324	N/A	INTRINSIC
low complexity region	328	341	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226122

Predicted Effect

probably null
Transcript: ENSMUST00000226184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226366

Predicted Effect

probably null
Transcript: ENSMUST00000226528

Predicted Effect

probably null
Transcript: ENSMUST00000227237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228620

Predicted Effect

probably null
Transcript: ENSMUST00000227402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226698

Predicted Effect

probably null
Transcript: ENSMUST00000228164

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may play a role in neurite outgrowth. This gene may be involved in glioblastoma carcinogenesis. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele develop various types of tumors, including T-cell lymphomas, and have a shorter lifespan. Homozygotes for a second null allele show vertebral transformations. Homozygotes for a third null allele show reduced astrogliosis and inflammatory response after brain injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,522,033 (GRCm39)	N1263S	probably benign	Het
Alpk1	A	C	3: 127,473,486 (GRCm39)	V839G	possibly damaging	Het
Als2	A	C	1: 59,206,358 (GRCm39)	M1634R	probably damaging	Het
Aox1	T	A	1: 58,329,058 (GRCm39)		probably null	Het
Aqp12	C	T	1: 92,934,088 (GRCm39)		probably benign	Het
Arhgap24	T	C	5: 103,040,308 (GRCm39)	V508A	probably damaging	Het
Arhgap9	T	A	10: 127,165,386 (GRCm39)	D598E	possibly damaging	Het
Btaf1	A	T	19: 36,966,373 (GRCm39)	H1047L	probably benign	Het
Btaf1	A	T	19: 36,963,948 (GRCm39)	T840S	probably benign	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Clstn1	A	G	4: 149,719,796 (GRCm39)	H437R	probably damaging	Het
Col1a1	A	G	11: 94,828,895 (GRCm39)	E79G	unknown	Het
Cspp1	C	A	1: 10,196,598 (GRCm39)	D157E	probably damaging	Het
Cyp4f16	T	C	17: 32,763,858 (GRCm39)	S217P	possibly damaging	Het
Ddx50	C	A	10: 62,475,723 (GRCm39)	V333F	probably damaging	Het
Dnai2	A	G	11: 114,629,551 (GRCm39)	S193G	probably benign	Het
Dync2h1	A	T	9: 6,935,293 (GRCm39)	H4236Q	probably benign	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Erich6	T	A	3: 58,528,753 (GRCm39)	Y499F	probably damaging	Het
Fa2h	A	G	8: 112,082,030 (GRCm39)		probably null	Het
Fads2b	A	T	2: 85,338,682 (GRCm39)		probably null	Het
Gli1	T	A	10: 127,173,934 (GRCm39)		probably benign	Het
Gm14403	A	G	2: 177,200,569 (GRCm39)	S172G	probably benign	Het
Grhl1	C	T	12: 24,634,918 (GRCm39)	T330M	probably damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Helz2	A	G	2: 180,881,789 (GRCm39)	F335L	probably damaging	Het
Hr	G	A	14: 70,795,333 (GRCm39)	A322T	probably benign	Het
Hsd17b8	A	T	17: 34,245,441 (GRCm39)	V231E	probably damaging	Het
Iapp	A	G	6: 142,249,151 (GRCm39)	N68S	probably benign	Het
Kctd4	A	T	14: 76,200,726 (GRCm39)	L232F	probably benign	Het
Kdm5b	A	G	1: 134,543,679 (GRCm39)	I783V	probably benign	Het
Larp4b	T	A	13: 9,208,590 (GRCm39)	N414K	probably benign	Het
Ldb2	T	C	5: 44,630,736 (GRCm39)	E337G	probably benign	Het
Lgr4	A	G	2: 109,838,542 (GRCm39)	K498E	probably benign	Het
Lipo3	C	T	19: 33,762,257 (GRCm39)	C80Y	probably damaging	Het
Luc7l3	A	T	11: 94,183,992 (GRCm39)		probably benign	Het
Ndufaf3	C	A	9: 108,444,092 (GRCm39)	R12L	probably benign	Het
Nol4	A	T	18: 22,828,012 (GRCm39)	L634I	probably damaging	Het
Npr3	C	T	15: 11,895,876 (GRCm39)	A257T	probably damaging	Het
Nrg3	G	A	14: 38,098,391 (GRCm39)	P496S	probably damaging	Het
Or4g17	A	T	2: 111,209,638 (GRCm39)	M98L	possibly damaging	Het
Or51a7	T	C	7: 102,615,228 (GRCm39)		probably null	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Pclo	C	T	5: 14,565,416 (GRCm39)	Q61*	probably null	Het
Phf19	A	G	2: 34,789,670 (GRCm39)	L350P	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,356,531 (GRCm39)	L332P	probably benign	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Rgl3	A	G	9: 21,887,321 (GRCm39)	I500T	probably damaging	Het
Rgs7	T	A	1: 175,016,785 (GRCm39)	I62F	probably benign	Het
Rttn	A	G	18: 88,995,831 (GRCm39)	N205D	probably damaging	Het
Samd8	G	A	14: 21,825,133 (GRCm39)	V30M	probably damaging	Het
Scn7a	G	A	2: 66,510,590 (GRCm39)	Q1271*	probably null	Het
Skor1	A	G	9: 63,052,868 (GRCm39)	V339A	probably benign	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc5a6	T	C	5: 31,200,295 (GRCm39)	E130G	probably damaging	Het
Sorcs2	T	A	5: 36,555,150 (GRCm39)	K80N	probably benign	Het
Stc1	T	C	14: 69,275,924 (GRCm39)	I239T	probably benign	Het
Steap4	G	T	5: 8,026,979 (GRCm39)	R314L	probably damaging	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Trav7d-4	A	T	14: 53,007,575 (GRCm39)	K23*	probably null	Het
Ttn	A	G	2: 76,641,075 (GRCm39)	L13598P	probably damaging	Het
Vmn2r52	A	G	7: 9,907,439 (GRCm39)	S96P	probably damaging	Het
Wdr25	T	C	12: 108,864,479 (GRCm39)	V208A	probably damaging	Het
Wdr27	C	T	17: 15,138,371 (GRCm39)	V360M	probably benign	Het
Zfp54	T	C	17: 21,653,814 (GRCm39)	C103R	possibly damaging	Het
Zfp618	A	G	4: 63,051,256 (GRCm39)	E679G	probably damaging	Het
Zfp846	A	G	9: 20,505,735 (GRCm39)	I532V	probably benign	Het
Zkscan2	A	T	7: 123,094,365 (GRCm39)		probably benign	Het

Other mutations in Ndrg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02261:Ndrg2	APN	14	52,148,566 (GRCm39)	missense	probably damaging	0.99
IGL02645:Ndrg2	APN	14	52,143,979 (GRCm39)	missense	possibly damaging	0.87
IGL03226:Ndrg2	APN	14	52,144,026 (GRCm39)	unclassified	probably benign
R0015:Ndrg2	UTSW	14	52,147,902 (GRCm39)	splice site	probably benign
R0015:Ndrg2	UTSW	14	52,147,902 (GRCm39)	splice site	probably benign
R0197:Ndrg2	UTSW	14	52,144,460 (GRCm39)	unclassified	probably benign
R0606:Ndrg2	UTSW	14	52,143,674 (GRCm39)	missense	probably damaging	1.00
R0812:Ndrg2	UTSW	14	52,146,119 (GRCm39)	splice site	probably benign
R1449:Ndrg2	UTSW	14	52,145,591 (GRCm39)	missense	probably damaging	1.00
R1625:Ndrg2	UTSW	14	52,144,420 (GRCm39)	missense	probably damaging	1.00
R5242:Ndrg2	UTSW	14	52,148,541 (GRCm39)	critical splice donor site	probably null
R5424:Ndrg2	UTSW	14	52,146,342 (GRCm39)	missense	probably damaging	0.97
R5568:Ndrg2	UTSW	14	52,144,420 (GRCm39)	missense	probably damaging	1.00
R5703:Ndrg2	UTSW	14	52,147,579 (GRCm39)	critical splice acceptor site	probably null
R6711:Ndrg2	UTSW	14	52,147,782 (GRCm39)	missense	possibly damaging	0.94
R7515:Ndrg2	UTSW	14	52,146,380 (GRCm39)	missense	probably benign	0.40
R7689:Ndrg2	UTSW	14	52,147,812 (GRCm39)	missense	possibly damaging	0.53
R7934:Ndrg2	UTSW	14	52,143,661 (GRCm39)	missense	probably benign	0.01
R9520:Ndrg2	UTSW	14	52,146,381 (GRCm39)	missense	probably benign
R9689:Ndrg2	UTSW	14	52,146,071 (GRCm39)	missense	probably damaging	1.00
R9738:Ndrg2	UTSW	14	52,148,238 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TCTTGCATATCCCCGAACCG -3'
(R):5'- TCCCTCTTTGAAGAACTCTCAG -3'

Sequencing Primer
(F):5'- CCGAACCGAAACAGTGGCTG -3'
(R):5'- AGTATATTTCTCCCCTGATGGTAAGC -3'

Posted On

2015-04-02