Mutagenetix > Incidental Mutation

Incidental Mutation 'R6755:Nhlrc2'

531049

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc2

Ensembl Gene

ENSMUSG00000025078

Gene Name

NHL repeat containing 2

Synonyms

MMRRC Submission

044871-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6755 (G1)

Quality Score

157.009

Status

Not validated

Chromosome

Chromosomal Location

56548261-56598846 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56591784 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 450 (V450I)

Ref Sequence

ENSEMBL: ENSMUSP00000071370 (fasta)

Gene Model

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

AlphaFold

Q8BZW8

Predicted Effect

probably benign
Transcript: ENSMUST00000071423
AA Change: V450I

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: V450I

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	C	6: 96,164,972	T364A	probably benign	Het
2210408I21Rik	C	T	13: 77,327,875	T1101M	probably benign	Het
4930433I11Rik	T	C	7: 40,994,310	S468P	probably damaging	Het
AA792892	A	G	5: 94,381,409	T13A	probably benign	Het
Adam33	A	G	2: 131,053,149	V637A	probably damaging	Het
Adcy5	G	A	16: 35,303,634	V1228M	possibly damaging	Het
Ahi1	G	T	10: 21,017,913	V848F	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
B4galt6	T	C	18: 20,689,329	E264G	probably benign	Het
Bpifb4	A	G	2: 153,957,738	T556A	probably damaging	Het
Bptf	A	T	11: 107,047,256	S64T	probably benign	Het
C3ar1	A	G	6: 122,849,858	S467P	probably benign	Het
Cables1	G	T	18: 11,939,825	S479I	probably null	Het
Cbl	T	C	9: 44,173,374	I155V	probably damaging	Het
Cdh16	T	C	8: 104,619,248	D297G	probably damaging	Het
Cdk8	T	A	5: 146,268,316	H102Q	probably damaging	Het
Cpn2	A	T	16: 30,260,331	L184Q	probably damaging	Het
Ctso	T	A	3: 81,942,302	H109Q	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Drc1	A	G	5: 30,355,146	E299G	probably damaging	Het
Elp6	A	G	9: 110,315,825	E150G	possibly damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fbn2	A	G	18: 58,113,333	L499S	possibly damaging	Het
Fgf10	C	A	13: 118,789,285	A200D	probably damaging	Het
Fhad1	T	C	4: 141,964,604	E407G	probably damaging	Het
Hif1an	T	C	19: 44,568,452	V232A	probably damaging	Het
Ift172	T	A	5: 31,260,998	K1214*	probably null	Het
Il20ra	T	C	10: 19,750,794	Y189H	probably benign	Het
Isg20l2	T	A	3: 87,931,689	I69N	probably benign	Het
Kdelc1	C	T	1: 44,110,734		probably null	Het
Kif11	A	G	19: 37,409,751	D675G	probably benign	Het
Klhdc7a	T	A	4: 139,966,475	D387V	possibly damaging	Het
Lrrc4	T	C	6: 28,831,293	N108D	probably damaging	Het
Ltbp2	T	A	12: 84,795,073	E944V	probably damaging	Het
Magi1	C	T	6: 93,708,177	S740N	probably damaging	Het
Med26	A	G	8: 72,495,833	I474T	probably damaging	Het
Mgst1	T	A	6: 138,147,772	M68K	probably damaging	Het
Myh7	G	A	14: 54,992,313	A91V	possibly damaging	Het
Nup160	T	G	2: 90,700,456	F486C	probably damaging	Het
Obscn	A	T	11: 59,103,326	Y1602N	probably damaging	Het
Olfr629	T	A	7: 103,740,500	T247S	probably damaging	Het
Olfr987	C	A	2: 85,331,798	M33I	probably benign	Het
Otogl	A	T	10: 107,853,303	Y955*	probably null	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Pianp	T	C	6: 124,999,384	V52A	probably benign	Het
Plekhh2	T	C	17: 84,591,585	Y997H	probably damaging	Het
Plekhm1	G	T	11: 103,387,243	S342R	possibly damaging	Het
Ppp4r4	T	A	12: 103,585,737	V81E	probably damaging	Het
Ptafr	A	G	4: 132,579,346	T16A	probably benign	Het
Ptpn23	A	T	9: 110,389,787	L445Q	probably damaging	Het
Rasa1	A	T	13: 85,226,598	F751L	possibly damaging	Het
Sap18	A	C	14: 57,802,017	D153A	probably damaging	Het
Slc38a11	C	T	2: 65,363,891	G10D	probably benign	Het
Snx32	T	C	19: 5,510,344	N10D	probably benign	Het
Sox6	T	C	7: 115,662,442	T180A	probably damaging	Het
Srrt	T	C	5: 137,302,930	K78R	probably damaging	Het
Syce3	T	C	15: 89,397,364	D24G	probably damaging	Het
Taok3	T	A	5: 117,206,667	I153N	probably damaging	Het
Tesk1	A	G	4: 43,445,991	Q308R	probably benign	Het
Tm7sf3	A	T	6: 146,609,973		probably null	Het
Tmbim6	T	C	15: 99,402,153	V50A	probably benign	Het
Tmem107	T	C	11: 69,071,011	V22A	probably damaging	Het
Ttc12	T	C	9: 49,453,346	I377V	probably benign	Het
Ufl1	T	A	4: 25,262,316	N310I	probably damaging	Het
Ush2a	C	A	1: 188,443,219	N1171K	possibly damaging	Het
Utrn	A	T	10: 12,699,087	V1032E	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
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'- GGAACCTGCATTCGTTTTGCTG -3'
(R):5'- CAGAGGGAGGGCTTTACTTG -3'

Sequencing Primer
(F):5'- CGTTTTGCTGGAAGTGGAAATGAAG -3'
(R):5'- TGGAACTCTCTCTGTAGACCAGG -3'

Posted On

2018-08-01