Mutagenetix > Incidental Mutation

Incidental Mutation 'R3856:Nhlrc2'

276195

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc2

Ensembl Gene

ENSMUSG00000025078

Gene Name

NHL repeat containing 2

Synonyms

MMRRC Submission

040902-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3856 (G1)

Quality Score

201

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: 96.7%
20x: 92.4%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	C	14: 103,055,446	S469P	possibly damaging	Het
Adgrf5	A	T	17: 43,447,036	N787I	possibly damaging	Het
Ank2	T	C	3: 126,929,844	T945A	probably benign	Het
Aox4	T	A	1: 58,253,934	I863N	probably damaging	Het
Ap3d1	A	G	10: 80,712,185	I891T	probably benign	Het
Apex1	A	G	14: 50,926,257	T109A	probably benign	Het
Arhgef1	G	A	7: 24,919,272	G107S	probably damaging	Het
Atxn7l1	A	G	12: 33,367,600	T587A	probably damaging	Het
Atxn7l3	T	C	11: 102,293,903	D128G	probably damaging	Het
Cacna1h	T	C	17: 25,392,453	Y457C	probably damaging	Het
Ccdc60	A	C	5: 116,172,455	C183G	probably damaging	Het
Cep131	G	A	11: 120,067,185	R772*	probably null	Het
Cnst	C	T	1: 179,579,714	P109S	probably benign	Het
Crtc2	G	T	3: 90,262,570	L509F	probably damaging	Het
Ctsr	A	T	13: 61,161,936	I153N	possibly damaging	Het
Dffa	A	T	4: 149,104,251	M1L	possibly damaging	Het
Dnajc16	G	A	4: 141,763,653	R729*	probably null	Het
Eef2k	T	A	7: 120,899,371	C91*	probably null	Het
Eml5	T	C	12: 98,816,024	D1336G	probably damaging	Het
F12	G	A	13: 55,421,222		probably null	Het
Fam43b	G	C	4: 138,395,098	R304G	probably benign	Het
Fbxo40	A	T	16: 36,969,083	L555Q	probably damaging	Het
Frmpd1	T	C	4: 45,283,698	S840P	probably damaging	Het
Gadd45a	C	T	6: 67,037,005		probably null	Het
Galnt7	T	C	8: 57,532,624		probably benign	Het
Gm5592	G	A	7: 41,157,835		probably benign	Het
Gpr171	T	C	3: 59,098,085	T90A	probably damaging	Het
Gpr82	A	T	X: 13,665,338	T42S	probably benign	Het
H2-M10.6	T	A	17: 36,812,504	I30N	probably benign	Het
Hk2	T	C	6: 82,736,676	E447G	possibly damaging	Het
Hspa4l	C	A	3: 40,785,389	H698Q	probably benign	Het
Idi1	G	T	13: 8,885,932	A25S	probably benign	Het
Kdm4a	C	T	4: 118,153,231	R605H	probably damaging	Het
Nt5c2	A	G	19: 46,896,518	V252A	probably damaging	Het
Olfr608	T	A	7: 103,470,660	V207E	probably damaging	Het
Pbp2	A	G	6: 135,310,145	L68P	probably benign	Het
Pcnx3	G	T	19: 5,678,967	T547K	probably benign	Het
Ppp1r12a	T	C	10: 108,253,501		probably benign	Het
Prmt9	G	A	8: 77,568,265	V413I	probably benign	Het
Pudp	T	C	18: 50,568,053	N203S	probably benign	Het
Rnf213	T	C	11: 119,480,939		probably benign	Het
Sall3	G	A	18: 80,972,502	T737M	probably damaging	Het
Scn2b	A	G	9: 45,125,461	N89S	possibly damaging	Het
Sgsm1	A	G	5: 113,263,259	V580A	probably benign	Het
Slc13a4	C	A	6: 35,271,604		probably null	Het
Slc4a4	A	C	5: 89,232,839	S1015R	probably benign	Het
Slc8a1	T	C	17: 81,648,374	T412A	probably benign	Het
Spag17	A	T	3: 100,106,759	D2116V	probably damaging	Het
Trim55	T	C	3: 19,672,956	F396L	probably benign	Het
Usp54	C	A	14: 20,588,420	M197I	probably damaging	Het
Vmn1r189	A	T	13: 22,102,269	F133I	possibly damaging	Het
Zfp735	T	C	11: 73,711,456	S409P	probably benign	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
R3855: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'- ACCGTGTTCTGAAACAGCTG -3'
(R):5'- GTGACTGCAGACACAGGAAC -3'

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

Posted On

2015-04-06