Mutagenetix > Incidental Mutation

Incidental Mutation 'R3855:Nhlrc2'

276139

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc2

Ensembl Gene

ENSMUSG00000025078

Gene Name

NHL repeat containing 2

Synonyms

MMRRC Submission

040901-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3855 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

56548261-56598846 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 56588271 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071423]

AlphaFold

Q8BZW8

Predicted Effect

probably null
Transcript: ENSMUST00000071423

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin_8	78	174	2.7e-14	PFAM
LY	216	258	8.44e0	SMART
Pfam:NHL	278	304	2.3e-9	PFAM
low complexity region	321	331	N/A	INTRINSIC
Blast:LY	402	446	5e-8	BLAST
LY	467	509	1.91e0	SMART
Pfam:NHL	530	558	1.2e-9	PFAM

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.9%
20x: 93.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	A	T	4: 63,373,468	S1144R	probably damaging	Het
Apbb1ip	T	C	2: 22,875,175	S623P	unknown	Het
Apex1	A	G	14: 50,926,257	T109A	probably benign	Het
Arhgef1	G	A	7: 24,919,272	G107S	probably damaging	Het
Cdc42bpa	A	G	1: 180,155,978		probably benign	Het
Cog2	T	C	8: 124,530,003		probably null	Het
Dennd4c	G	A	4: 86,779,847	V191M	probably damaging	Het
Dscr3	A	G	16: 94,510,806	F95L	probably benign	Het
Dthd1	T	A	5: 62,827,129	H392Q	probably benign	Het
Dthd1	T	C	5: 62,888,023	V710A	probably benign	Het
Fam58b	T	C	11: 78,751,187	N159S	probably benign	Het
Galnt7	T	C	8: 57,532,624		probably benign	Het
Gm4868	A	G	5: 125,848,545		noncoding transcript	Het
Gpr179	T	C	11: 97,341,434	E648G	probably damaging	Het
Hk2	T	C	6: 82,736,676	E447G	possibly damaging	Het
Idi1	G	T	13: 8,885,932	A25S	probably benign	Het
Itgb3bp	T	C	4: 99,798,720	E76G	possibly damaging	Het
Khk	A	G	5: 30,927,057	D82G	probably benign	Het
Kif17	A	G	4: 138,291,510	S533G	probably benign	Het
Kmt2a	A	G	9: 44,830,499		probably benign	Het
Kmt5c	T	C	7: 4,746,256	F104S	probably damaging	Het
Lmf1	G	A	17: 25,654,471	V317M	probably damaging	Het
Mdh1	C	T	11: 21,559,281	V234I	probably benign	Het
Nbas	T	A	12: 13,279,414	I120N	possibly damaging	Het
Nfia	A	G	4: 98,063,022	H362R	probably damaging	Het
Nme5	A	G	18: 34,569,831	S135P	possibly damaging	Het
Nt5c2	A	G	19: 46,896,518	V252A	probably damaging	Het
Nufip2	T	C	11: 77,692,889	V543A	probably damaging	Het
Olfr1380	A	G	11: 49,564,091	T57A	probably damaging	Het
Olfr364-ps1	A	T	2: 37,146,823	I204F	possibly damaging	Het
Otog	T	C	7: 46,273,760	S1020P	possibly damaging	Het
Pear1	T	C	3: 87,751,921	H814R	possibly damaging	Het
Pkd1l1	A	G	11: 8,965,047		probably null	Het
Pla2g4a	T	A	1: 149,830,177	I711F	possibly damaging	Het
Ppig	G	A	2: 69,749,375	V418I	unknown	Het
Prg4	T	C	1: 150,452,000	Y234C	probably damaging	Het
Prmt9	G	A	8: 77,568,265	V413I	probably benign	Het
Rnf145	G	A	11: 44,531,293	V68M	possibly damaging	Het
Sepsecs	G	A	5: 52,664,274	R74C	probably damaging	Het
Sgsm1	A	G	5: 113,263,259	V580A	probably benign	Het
Sh3bp1	C	T	15: 78,901,161		probably benign	Het
Sox11	C	A	12: 27,341,502	G303C	probably damaging	Het
Usp54	C	A	14: 20,588,420	M197I	probably damaging	Het
Xylt1	T	G	7: 117,593,550	L361R	probably damaging	Het
Zfp512	A	G	5: 31,480,249	R505G	possibly damaging	Het

Other mutations in Nhlrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Nhlrc2	APN	19	56551799	nonsense	probably null
IGL01524:Nhlrc2	APN	19	56576155	missense	probably benign	0.39
IGL01570:Nhlrc2	APN	19	56574787	missense	possibly damaging	0.87
IGL01653:Nhlrc2	APN	19	56570850	missense	probably benign	0.25
IGL02256:Nhlrc2	APN	19	56597361	missense	probably benign	0.10
IGL02303:Nhlrc2	APN	19	56574848	missense	probably damaging	1.00
IGL02349:Nhlrc2	APN	19	56591719	missense	possibly damaging	0.94
IGL02501:Nhlrc2	APN	19	56570654	nonsense	probably null
R0270:Nhlrc2	UTSW	19	56551870	missense	probably damaging	1.00
R0454:Nhlrc2	UTSW	19	56570527	missense	probably damaging	1.00
R2022:Nhlrc2	UTSW	19	56597278	missense	probably benign	0.06
R3854:Nhlrc2	UTSW	19	56588271	critical splice donor site	probably null
R3856:Nhlrc2	UTSW	19	56588271	critical splice donor site	probably null
R4659:Nhlrc2	UTSW	19	56576267	missense	possibly damaging	0.86
R4767:Nhlrc2	UTSW	19	56570466	missense	probably benign	0.03
R4992:Nhlrc2	UTSW	19	56570534	missense	probably benign	0.00
R5877:Nhlrc2	UTSW	19	56570584	missense	probably damaging	1.00
R6191:Nhlrc2	UTSW	19	56570859	missense	probably benign	0.00
R6755:Nhlrc2	UTSW	19	56591784	missense	probably benign	0.12
R7164:Nhlrc2	UTSW	19	56592499	missense	probably damaging	1.00
R7507:Nhlrc2	UTSW	19	56597378	missense	not run
R7609:Nhlrc2	UTSW	19	56594896	missense	probably benign
R8811:Nhlrc2	UTSW	19	56594912	missense	probably benign	0.03
R8849:Nhlrc2	UTSW	19	56591752	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AGGAACCGTGTTCTGAAACAG -3'
(R):5'- GTGACTGCAGACACAGGAAC -3'

Sequencing Primer
(F):5'- AAGGTTCAGAGGTCCAAA -3'
(R):5'- GCTTTGAGAACCAGCTAGTGACTC -3'

Posted On

2015-04-06