Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Nlrc3'

710296

Institutional Source

Beutler Lab

Gene Symbol

Nlrc3

Ensembl Gene

ENSMUSG00000049871

Gene Name

NLR family, CARD domain containing 3

Synonyms

CLR16.2, Caterpiller 16.2, D230007K08Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3945007-3976632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3964012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 527 (G527D)

Ref Sequence

ENSEMBL: ENSMUSP00000137628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177551] [ENSMUST00000180200] [ENSMUST00000229884]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000177551
AA Change: G527D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: G527D

Domain	Start	End	E-Value	Type
Pfam:NACHT	176	342	2e-34	PFAM
LRR	702	729	3.11e-2	SMART
LRR	730	757	2.27e-4	SMART
LRR	758	785	8.15e-1	SMART
LRR	786	813	2.17e-1	SMART
LRR	814	841	2.12e-4	SMART
LRR	842	869	3.42e0	SMART
LRR	870	897	7.67e-2	SMART
LRR	898	925	3.21e0	SMART
LRR	926	953	1.67e0	SMART
LRR	954	981	4.87e-4	SMART
LRR	982	1009	4.3e0	SMART
LRR	1010	1037	3.8e-6	SMART
LRR	1038	1065	4.47e-3	SMART
LRR	1066	1093	1.08e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180200

SMART Domains

Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871

Domain	Start	End	E-Value	Type
LRR	4	24	8.65e1	SMART
LRR	25	52	2.27e-4	SMART
LRR	53	80	8.15e-1	SMART
LRR	81	108	2.17e-1	SMART
LRR	109	136	2.12e-4	SMART
LRR	137	164	3.42e0	SMART
LRR	165	192	7.67e-2	SMART
LRR	193	220	3.21e0	SMART
LRR	221	248	1.67e0	SMART
LRR	249	276	4.87e-4	SMART
LRR	277	304	4.3e0	SMART
LRR	305	332	3.8e-6	SMART
LRR	333	360	4.47e-3	SMART
LRR	361	388	1.08e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000229884
AA Change: G511D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced susceptibility to LPS-induced toxic shock. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,161,192	I554T	possibly damaging	Het
4930435E12Rik	T	G	16: 38,828,045	D234A	probably benign	Het
Adamts7	C	A	9: 90,195,205	C1308*	probably null	Het
Ank2	A	G	3: 126,959,717	V305A	probably benign	Het
Apob	A	G	12: 8,006,399	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,828,139	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,480,631	Y29*	probably null	Het
Card11	C	A	5: 140,885,521	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,455,422	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,856,165	R211W	probably benign	Het
Cda	T	G	4: 138,351,287	I55L	probably benign	Het
Cdkl3	A	C	11: 52,035,952	E577D	probably benign	Het
Cel	T	C	2: 28,560,575	D146G	probably damaging	Het
Cmya5	A	G	13: 93,094,372	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,528,174	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473	Q1045*	probably null	Het
Csmd1	T	C	8: 15,984,756	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,999,340	R22C	probably benign	Het
Ddit4	A	G	10: 59,951,356	S53P	probably damaging	Het
Ddx52	G	T	11: 83,952,270	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,712,765	L3677I	probably damaging	Het
Dscam	T	C	16: 97,039,003	T135A	probably benign	Het
Espl1	T	A	15: 102,298,750	D216E	probably damaging	Het
Fsip2	T	A	2: 82,989,449	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,019,971		probably benign	Het
Fyb	A	G	15: 6,634,816	D460G	probably benign	Het
Gm3264	T	C	14: 4,871,178	I8T	possibly damaging	Het
Gm35339	A	G	15: 76,356,167	T352A		Het
Gsdmc	A	T	15: 63,803,637	Y110N	possibly damaging	Het
H13	A	G	2: 152,695,493	N286S	probably benign	Het
Heatr1	A	G	13: 12,406,542	D441G	probably damaging	Het
Hist1h2aa	A	T	13: 23,934,696	I79F	probably damaging	Het
Hps6	A	G	19: 46,005,910	D762G	probably damaging	Het
Hyou1	C	A	9: 44,381,515	Q141K	probably benign	Het
Lpin3	T	C	2: 160,897,073	I267T	probably benign	Het
Mdc1	A	G	17: 35,850,504	K770E	probably benign	Het
Mlh3	C	T	12: 85,269,370	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,537,407	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,453,594	W247R	probably damaging	Het
Nop9	A	G	14: 55,751,127	E342G	probably benign	Het
Ntn1	C	A	11: 68,385,187	G312C	probably damaging	Het
Olfr288	C	T	15: 98,187,605	S64N	probably damaging	Het
Olfr474	T	A	7: 107,955,573	*311K	probably null	Het
Opcml	T	C	9: 28,675,163	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,426	Y193S	probably damaging	Het
Pabpc4l	A	T	3: 46,446,702	V169E	probably damaging	Het
Pde3a	A	G	6: 141,492,256	D1017G	probably benign	Het
Plagl2	C	T	2: 153,232,318	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,322,728	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,749,416	V571A	possibly damaging	Het
Pnma2	A	G	14: 66,915,922		probably benign	Het
Rnf123	T	A	9: 108,052,268	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Slc22a23	T	C	13: 34,344,578	S74G	probably benign	Het
Slc36a4	T	C	9: 15,734,267	I330T	probably damaging	Het
Snrk	A	T	9: 122,166,397	D414V	probably benign	Het
Snrnp200	G	A	2: 127,238,058		probably null	Het
Spata31d1b	T	C	13: 59,715,589	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,055,278	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,462,920	Q858K	probably damaging	Het
Tial1	A	G	7: 128,442,485	C102R	unknown	Het
Ugt8a	A	T	3: 125,871,614	D411E	probably benign	Het
Usp34	A	G	11: 23,449,223	D2404G		Het
Vmn1r10	A	C	6: 57,113,848	I142L	probably benign	Het
Wdr66	T	C	5: 123,288,815	L919S	probably damaging	Het
Xpo7	A	T	14: 70,688,293	D435E	probably damaging	Het
Zmym1	A	G	4: 127,058,890	S33P	probably damaging	Het

Other mutations in Nlrc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Nlrc3	APN	16	3955166	missense	probably damaging	1.00
IGL00943:Nlrc3	APN	16	3965117	missense	possibly damaging	0.94
IGL01481:Nlrc3	APN	16	3963905	missense	probably damaging	1.00
IGL01517:Nlrc3	APN	16	3947487	missense	probably damaging	0.99
IGL01988:Nlrc3	APN	16	3953939	missense	probably benign	0.43
IGL02306:Nlrc3	APN	16	3964824	missense	probably damaging	1.00
IGL02515:Nlrc3	APN	16	3949459	splice site	probably benign
IGL02795:Nlrc3	APN	16	3965285	missense	probably damaging	0.99
IGL02897:Nlrc3	APN	16	3964074	missense	possibly damaging	0.85
IGL02992:Nlrc3	APN	16	3954023	splice site	probably benign
IGL03003:Nlrc3	APN	16	3964862	missense	probably benign	0.03
IGL03381:Nlrc3	APN	16	3964315	missense	probably benign	0.03
R0064:Nlrc3	UTSW	16	3964087	missense	possibly damaging	0.82
R0064:Nlrc3	UTSW	16	3964087	missense	possibly damaging	0.82
R0122:Nlrc3	UTSW	16	3958958	missense	probably damaging	0.98
R0482:Nlrc3	UTSW	16	3965192	missense	possibly damaging	0.81
R0601:Nlrc3	UTSW	16	3948249	splice site	probably benign
R0622:Nlrc3	UTSW	16	3953968	missense	probably benign	0.04
R0675:Nlrc3	UTSW	16	3948911	missense	probably benign	0.01
R1595:Nlrc3	UTSW	16	3965302	missense	probably benign	0.03
R1597:Nlrc3	UTSW	16	3963995	missense	probably damaging	1.00
R2013:Nlrc3	UTSW	16	3965110	missense	probably damaging	1.00
R2077:Nlrc3	UTSW	16	3963992	missense	probably benign	0.35
R2327:Nlrc3	UTSW	16	3953440	missense	probably damaging	1.00
R2872:Nlrc3	UTSW	16	3957326	missense	possibly damaging	0.56
R2872:Nlrc3	UTSW	16	3957326	missense	possibly damaging	0.56
R3037:Nlrc3	UTSW	16	3952408	missense	probably damaging	1.00
R3794:Nlrc3	UTSW	16	3947875	missense	probably benign	0.22
R3843:Nlrc3	UTSW	16	3964964	missense	probably benign
R4761:Nlrc3	UTSW	16	3963650	missense	probably damaging	1.00
R5303:Nlrc3	UTSW	16	3963614	missense	probably benign	0.15
R5375:Nlrc3	UTSW	16	3964753	missense	possibly damaging	0.95
R5468:Nlrc3	UTSW	16	3964035	missense	probably damaging	1.00
R5719:Nlrc3	UTSW	16	3963725	missense	probably damaging	1.00
R5838:Nlrc3	UTSW	16	3953995	missense	probably damaging	1.00
R5879:Nlrc3	UTSW	16	3964045	missense	probably damaging	1.00
R5942:Nlrc3	UTSW	16	3949429	missense	probably damaging	1.00
R6500:Nlrc3	UTSW	16	3952444	missense	possibly damaging	0.79
R6600:Nlrc3	UTSW	16	3965074	missense	probably benign	0.29
R6704:Nlrc3	UTSW	16	3965081	missense	probably damaging	0.99
R7172:Nlrc3	UTSW	16	3963753	missense	probably benign	0.30
R7283:Nlrc3	UTSW	16	3947877	missense	probably benign	0.25
R7296:Nlrc3	UTSW	16	3963590	missense	probably damaging	0.99
R7477:Nlrc3	UTSW	16	3964811	missense	probably damaging	0.99
R7817:Nlrc3	UTSW	16	3965463	missense	possibly damaging	0.87
R8118:Nlrc3	UTSW	16	3965631	missense	probably benign
R8559:Nlrc3	UTSW	16	3965282	missense	probably benign	0.05
R8871:Nlrc3	UTSW	16	3964104	intron	probably benign
R9008:Nlrc3	UTSW	16	3958943	missense	possibly damaging	0.95
R9237:Nlrc3	UTSW	16	3965209	missense	probably benign	0.02
R9430:Nlrc3	UTSW	16	3965532	missense	probably benign	0.00
R9509:Nlrc3	UTSW	16	3964816	missense	probably damaging	1.00
R9573:Nlrc3	UTSW	16	3953977	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- GAAGCCTTGTAGGACCTCAG -3'
(R):5'- TGAAGGCATTTGGAGTGGACC -3'

Sequencing Primer
(F):5'- TTGTAGGACCTCAGCCACCTG -3'
(R):5'- GACCTCGCTCTGTTGCAGAAC -3'

Posted On

2022-04-18