Mutagenetix > Incidental Mutation

Incidental Mutation 'R3854:Nhlrc2'

276088

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc2

Ensembl Gene

ENSMUSG00000025078

Gene Name

NHL repeat containing 2

Synonyms

MMRRC Submission

041605-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3854 (G1)

Quality Score

225

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: 98.8%
10x: 97.2%
20x: 94.2%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	C	2: 58,462,934 (GRCm38)	K338R	probably damaging	Het
Adar	C	T	3: 89,736,258 (GRCm38)	P482L	probably damaging	Het
Adh5	A	G	3: 138,451,015 (GRCm38)	D154G	probably benign	Het
Apoa1	A	G	9: 46,230,223 (GRCm38)	S206G	probably benign	Het
Aspdh	T	C	7: 44,466,189 (GRCm38)	V5A	possibly damaging	Het
Bend3	AAGGACCA	AA	10: 43,510,717 (GRCm38)		probably benign	Het
C2cd3	A	T	7: 100,454,601 (GRCm38)		probably null	Het
Ccdc87	A	G	19: 4,839,518 (GRCm38)	I13V	probably benign	Het
Cd163	A	T	6: 124,311,566 (GRCm38)	N319Y	probably damaging	Het
Cdc42bpa	A	G	1: 180,155,978 (GRCm38)		probably benign	Het
Ceacam2	T	C	7: 25,538,802 (GRCm38)	S66G	probably benign	Het
Cep131	G	A	11: 120,067,185 (GRCm38)	R772*	probably null	Het
Clhc1	T	C	11: 29,571,789 (GRCm38)	C441R	probably damaging	Het
Clstn2	G	A	9: 97,463,595 (GRCm38)	Q567*	probably null	Het
Cops7a	C	T	6: 124,959,832 (GRCm38)	R252H	probably damaging	Het
Daam2	T	C	17: 49,458,596 (GRCm38)	N1093S	probably benign	Het
Dnajc16	G	A	4: 141,763,653 (GRCm38)	R729*	probably null	Het
Dscr3	A	G	16: 94,510,806 (GRCm38)	F95L	probably benign	Het
Eml6	C	T	11: 29,749,905 (GRCm38)	A1744T	possibly damaging	Het
Fam43b	G	C	4: 138,395,098 (GRCm38)	R304G	probably benign	Het
Fbll1	T	A	11: 35,797,699 (GRCm38)	T246S	probably benign	Het
Fbln2	A	T	6: 91,266,371 (GRCm38)	T910S	probably damaging	Het
Fcna	C	T	2: 25,627,772 (GRCm38)	G22D	possibly damaging	Het
Gadl1	G	T	9: 116,006,664 (GRCm38)	E387*	probably null	Het
Gm5592	G	A	7: 41,157,835 (GRCm38)		probably benign	Het
Gpr82	A	T	X: 13,665,338 (GRCm38)	T42S	probably benign	Het
Hk2	T	C	6: 82,736,676 (GRCm38)	E447G	possibly damaging	Het
Idi1	G	T	13: 8,885,932 (GRCm38)	A25S	probably benign	Het
Lbr	G	A	1: 181,831,715 (GRCm38)	T167I	probably benign	Het
Mdh1	C	T	11: 21,559,281 (GRCm38)	V234I	probably benign	Het
Muc2	A	G	7: 141,754,344 (GRCm38)	H420R	probably damaging	Het
Nrcam	G	T	12: 44,575,884 (GRCm38)	A938S	probably benign	Het
Nt5c2	A	G	19: 46,896,518 (GRCm38)	V252A	probably damaging	Het
Olfr406	A	T	11: 74,270,279 (GRCm38)	K297*	probably null	Het
Olfr419	T	A	1: 174,250,150 (GRCm38)	Y259F	probably damaging	Het
Olfr550	T	G	7: 102,579,020 (GRCm38)	L175R	probably damaging	Het
Pgap3	T	C	11: 98,390,812 (GRCm38)	T187A	possibly damaging	Het
Pus10	T	C	11: 23,703,003 (GRCm38)		probably null	Het
Rnf213	T	C	11: 119,480,939 (GRCm38)		probably benign	Het
Sag	T	C	1: 87,824,518 (GRCm38)		probably benign	Het
Serpinb9e	A	G	13: 33,255,154 (GRCm38)	I188V	probably benign	Het
Shcbp1l	A	T	1: 153,452,444 (GRCm38)	I634F	probably damaging	Het
Slc6a16	T	A	7: 45,268,172 (GRCm38)	C485S	probably damaging	Het
Vmn1r215	A	C	13: 23,075,888 (GRCm38)	M33L	probably benign	Het

Other mutations in Nhlrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Nhlrc2	APN	19	56,551,799 (GRCm38)	nonsense	probably null
IGL01524:Nhlrc2	APN	19	56,576,155 (GRCm38)	missense	probably benign	0.39
IGL01570:Nhlrc2	APN	19	56,574,787 (GRCm38)	missense	possibly damaging	0.87
IGL01653:Nhlrc2	APN	19	56,570,850 (GRCm38)	missense	probably benign	0.25
IGL02256:Nhlrc2	APN	19	56,597,361 (GRCm38)	missense	probably benign	0.10
IGL02303:Nhlrc2	APN	19	56,574,848 (GRCm38)	missense	probably damaging	1.00
IGL02349:Nhlrc2	APN	19	56,591,719 (GRCm38)	missense	possibly damaging	0.94
IGL02501:Nhlrc2	APN	19	56,570,654 (GRCm38)	nonsense	probably null
R0270:Nhlrc2	UTSW	19	56,551,870 (GRCm38)	missense	probably damaging	1.00
R0454:Nhlrc2	UTSW	19	56,570,527 (GRCm38)	missense	probably damaging	1.00
R2022:Nhlrc2	UTSW	19	56,597,278 (GRCm38)	missense	probably benign	0.06
R3855:Nhlrc2	UTSW	19	56,588,271 (GRCm38)	critical splice donor site	probably null
R3856:Nhlrc2	UTSW	19	56,588,271 (GRCm38)	critical splice donor site	probably null
R4659:Nhlrc2	UTSW	19	56,576,267 (GRCm38)	missense	possibly damaging	0.86
R4767:Nhlrc2	UTSW	19	56,570,466 (GRCm38)	missense	probably benign	0.03
R4992:Nhlrc2	UTSW	19	56,570,534 (GRCm38)	missense	probably benign	0.00
R5877:Nhlrc2	UTSW	19	56,570,584 (GRCm38)	missense	probably damaging	1.00
R6191:Nhlrc2	UTSW	19	56,570,859 (GRCm38)	missense	probably benign	0.00
R6755:Nhlrc2	UTSW	19	56,591,784 (GRCm38)	missense	probably benign	0.12
R7164:Nhlrc2	UTSW	19	56,592,499 (GRCm38)	missense	probably damaging	1.00
R7507:Nhlrc2	UTSW	19	56,597,378 (GRCm38)	missense	not run
R7609:Nhlrc2	UTSW	19	56,594,896 (GRCm38)	missense	probably benign
R8811:Nhlrc2	UTSW	19	56,594,912 (GRCm38)	missense	probably benign	0.03
R8849:Nhlrc2	UTSW	19	56,591,752 (GRCm38)	missense	possibly damaging	0.72

Predicted Primers

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

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

Posted On

2015-04-06