Mutagenetix > Incidental Mutation

Incidental Mutation 'R8811:Nhlrc2'

672449

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc2

Ensembl Gene

ENSMUSG00000025078

Gene Name

NHL repeat containing 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8811 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56548261-56598846 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56594912 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 605 (V605E)

Ref Sequence

ENSEMBL: ENSMUSP00000071370 (fasta)

Gene Model

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

AlphaFold

Q8BZW8

Predicted Effect

probably benign
Transcript: ENSMUST00000071423
AA Change: V605E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: V605E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	G	17: 24,317,238	K485T	probably benign	Het
Abcc12	G	T	8: 86,553,394	L337M	probably damaging	Het
Adcy4	T	C	14: 55,772,764	D687G	probably benign	Het
Aldoc	T	A	11: 78,324,784	I98N	probably damaging	Het
Aoah	T	A	13: 20,999,951	V395D	probably damaging	Het
Arap1	C	T	7: 101,387,196	R397W	probably damaging	Het
Arl16	A	T	11: 120,466,700	M63K	probably damaging	Het
Atf7	T	C	15: 102,593,709	D4G	probably damaging	Het
Atp6v0d2	A	T	4: 19,922,397	V34D	probably benign	Het
Camk1g	C	G	1: 193,362,100	G2A	probably damaging	Het
Cenpe	A	G	3: 135,223,240	T302A	probably damaging	Het
Cps1	T	C	1: 67,214,087	V1246A	probably benign	Het
Csmd3	T	C	15: 47,696,743	D1397G		Het
Ddx39b	T	A	17: 35,244,459	S115T	probably benign	Het
Dnaja3	C	A	16: 4,696,519	T305K	probably benign	Het
Dusp7	C	G	9: 106,371,042	H290D	probably benign	Het
Emilin2	T	A	17: 71,275,287	D148V	possibly damaging	Het
Erbin	C	T	13: 103,886,316	R5Q	probably damaging	Het
Fam26d	T	A	10: 34,041,665	K263N	probably benign	Het
Fam3b	T	C	16: 97,512,515		probably benign	Het
Foxn3	T	C	12: 99,196,692	S317G	probably benign	Het
Gipc1	T	A	8: 83,662,290	M177K	possibly damaging	Het
Grpel2	A	C	18: 61,718,752		probably benign	Het
Htr1a	G	C	13: 105,444,593	A114P	probably damaging	Het
Iqch	A	T	9: 63,544,913	M210K	possibly damaging	Het
Kdelr3	T	C	15: 79,525,851	I179T	possibly damaging	Het
Lat2	C	T	5: 134,606,699		probably benign	Het
Mcrip1	A	G	11: 120,544,779	V10A	probably damaging	Het
Mib1	C	T	18: 10,755,643	L350F	probably benign	Het
Nup133	AAGAGA	AAGA	8: 123,911,888	900	probably null	Het
Nutm2	A	T	13: 50,469,953	I229F	probably benign	Het
Olfr308	G	A	7: 86,321,781	T57M	probably damaging	Het
Phkb	T	C	8: 86,018,527	V611A	possibly damaging	Het
Polg2	A	T	11: 106,779,382	Y21N	probably benign	Het
Prss28	T	A	17: 25,309,653	I23N	probably benign	Het
Ptprz1	G	A	6: 23,030,662	V1856I	probably benign	Het
Slc22a22	A	T	15: 57,244,841	I526N	probably damaging	Het
Slc24a4	T	C	12: 102,213,874	F68S	probably damaging	Het
Slc37a3	A	G	6: 39,345,340	S377P	probably damaging	Het
Smoc2	T	C	17: 14,325,634	S62P	probably damaging	Het
Sox4	A	G	13: 28,952,928	S32P	probably damaging	Het
Stxbp2	A	T	8: 3,639,541	Q426L		Het
Synrg	T	G	11: 84,019,584	S937A	probably benign	Het
Tbr1	C	A	2: 61,811,852	T487K	possibly damaging	Het
Tll2	T	C	19: 41,206,573	T25A	probably benign	Het
Trim31	T	C	17: 36,899,983	F169S	probably benign	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Tspear	T	C	10: 77,829,629	F83S	probably benign	Het
Ubr5	C	A	15: 38,040,879	A254S		Het
Ubtfl1	A	G	9: 18,410,163	E329G	probably benign	Het
Vmn2r45	A	G	7: 8,471,882	W716R	probably damaging	Het
Vmn2r67	T	C	7: 85,150,687	M448V	probably damaging	Het
Wwc2	T	G	8: 47,883,544	I228L	possibly damaging	Het
Zbtb20	T	C	16: 43,610,494	V383A	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
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
R8849:Nhlrc2	UTSW	19	56591752	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- CCTCGCTTTGGTCCTGAAAGTG -3'
(R):5'- AGAGTCACGCTTCACACCAG -3'

Sequencing Primer
(F):5'- CCTGAAAGTGCTCTGCTTTAACAAC -3'
(R):5'- GCTTCACACCAGGTCCC -3'

Posted On

2021-04-30