Mutagenetix > Incidental Mutation

Incidental Mutation 'R0482:Nlrc3'

42077

Institutional Source

Beutler Lab

Gene Symbol

Nlrc3

Ensembl Gene

ENSMUSG00000049871

Gene Name

NLR family, CARD domain containing 3

Synonyms

CLR16.2, D230007K08Rik, Caterpiller 16.2

MMRRC Submission

038682-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0482 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

3762871-3794496 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3783056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 118 (T118A)

Ref Sequence

ENSEMBL: ENSMUSP00000155241 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000096308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163478

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177551
AA Change: T134A

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: T134A

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

possibly damaging
Transcript: ENSMUST00000229884
AA Change: T118A

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1147

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

95% (94/99)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,207,255 (GRCm39)		probably null	Het
Abca13	G	A	11: 9,278,207 (GRCm39)	G3129D	possibly damaging	Het
Acnat2	T	C	4: 49,383,534 (GRCm39)	I6M	probably benign	Het
Adcy4	T	A	14: 56,012,029 (GRCm39)		probably null	Het
Agrn	A	G	4: 156,258,012 (GRCm39)	S1117P	probably damaging	Het
Anks1b	A	G	10: 90,195,057 (GRCm39)	N545S	probably benign	Het
Antxr1	C	T	6: 87,246,220 (GRCm39)		probably null	Het
Arhgef17	T	C	7: 100,529,828 (GRCm39)	K476E	probably damaging	Het
Bptf	T	C	11: 106,972,088 (GRCm39)	S927G	probably benign	Het
Cacna1s	C	T	1: 136,041,132 (GRCm39)	T1286I	probably benign	Het
Ccdc174	T	A	6: 91,872,247 (GRCm39)	M292K	probably benign	Het
Cdk5rap2	G	A	4: 70,328,506 (GRCm39)		probably benign	Het
Celsr3	T	A	9: 108,706,272 (GRCm39)	Y918*	probably null	Het
Cep250	T	C	2: 155,806,894 (GRCm39)		probably benign	Het
Ces2h	A	G	8: 105,746,903 (GRCm39)	D513G	possibly damaging	Het
Clec2l	A	G	6: 38,640,327 (GRCm39)	T53A	probably benign	Het
Cntnap2	C	T	6: 45,692,750 (GRCm39)	S77L	probably benign	Het
Cped1	A	T	6: 22,016,957 (GRCm39)	H102L	probably benign	Het
Crim1	T	A	17: 78,680,008 (GRCm39)	D916E	probably benign	Het
Csmd1	T	A	8: 16,283,115 (GRCm39)	I614F	probably damaging	Het
Csnk1g1	G	A	9: 65,917,751 (GRCm39)	E37K	probably damaging	Het
Ctnnbl1	T	A	2: 157,713,110 (GRCm39)		probably null	Het
Cuzd1	A	T	7: 130,911,601 (GRCm39)		probably benign	Het
Cyp4f16	T	A	17: 32,769,525 (GRCm39)	V433D	probably damaging	Het
Ddi1	A	G	9: 6,266,144 (GRCm39)	L75P	probably damaging	Het
Ddias	G	A	7: 92,508,736 (GRCm39)	A393V	probably benign	Het
Dgka	A	T	10: 128,569,990 (GRCm39)	Y123*	probably null	Het
Dlgap1	T	C	17: 70,823,185 (GRCm39)	C57R	probably benign	Het
Dysf	T	A	6: 84,129,387 (GRCm39)	V1458D	probably benign	Het
Eif2ak4	T	A	2: 118,292,828 (GRCm39)	Y1230N	probably damaging	Het
Fbxl7	A	T	15: 26,543,632 (GRCm39)	S338R	probably benign	Het
Fgf23	A	T	6: 127,050,122 (GRCm39)	T44S	probably damaging	Het
Fhip1b	G	A	7: 105,033,419 (GRCm39)	P599L	possibly damaging	Het
Folh1	A	T	7: 86,395,309 (GRCm39)		probably benign	Het
Gpsm2	A	T	3: 108,609,710 (GRCm39)		probably benign	Het
H2bc13	A	G	13: 21,900,295 (GRCm39)		probably benign	Het
Hdac2	T	A	10: 36,865,130 (GRCm39)		probably benign	Het
Il31ra	G	T	13: 112,664,015 (GRCm39)	T446N	possibly damaging	Het
Irf5	T	A	6: 29,535,369 (GRCm39)	L199H	probably benign	Het
Kif18a	T	A	2: 109,118,188 (GRCm39)	M1K	probably null	Het
Kif4-ps	A	C	12: 101,114,921 (GRCm39)	I1017L	probably benign	Het
Klhl2	C	T	8: 65,211,164 (GRCm39)	V295M	probably benign	Het
Krt75	A	T	15: 101,478,746 (GRCm39)	M296K	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lgr4	T	C	2: 109,838,437 (GRCm39)	S439P	probably damaging	Het
Lhfpl2	C	A	13: 94,311,118 (GRCm39)	N129K	probably damaging	Het
Lnx2	A	G	5: 146,955,771 (GRCm39)	V675A	probably damaging	Het
Med13	T	C	11: 86,175,977 (GRCm39)	T1673A	probably benign	Het
Mif	A	G	10: 75,695,974 (GRCm39)	V10A	possibly damaging	Het
Mki67	A	T	7: 135,301,158 (GRCm39)	I1292N	possibly damaging	Het
Mylip	C	A	13: 45,558,059 (GRCm39)	N89K	probably benign	Het
Myo19	G	T	11: 84,800,245 (GRCm39)	D877Y	probably benign	Het
Nckap5	A	G	1: 125,954,102 (GRCm39)	S753P	possibly damaging	Het
Nptx2	T	C	5: 144,490,269 (GRCm39)	Y233H	probably damaging	Het
Nsl1	T	A	1: 190,795,237 (GRCm39)	M1K	probably null	Het
Ntsr1	T	A	2: 180,142,849 (GRCm39)	S213R	possibly damaging	Het
Or4c120	A	T	2: 89,000,975 (GRCm39)	F194I	probably benign	Het
Or4c58	A	G	2: 89,674,513 (GRCm39)	V268A	probably benign	Het
Or52n5	T	A	7: 104,588,021 (GRCm39)	F96Y	possibly damaging	Het
Pde4d	G	A	13: 110,073,244 (GRCm39)	V347I	probably benign	Het
Pik3r4	T	A	9: 105,546,244 (GRCm39)	S865T	probably benign	Het
Ppp2r2d	A	G	7: 138,472,160 (GRCm39)	R136G	probably benign	Het
Proser2	A	C	2: 6,118,721 (GRCm39)	S41A	probably damaging	Het
Proz	A	T	8: 13,123,460 (GRCm39)	K244*	probably null	Het
Prpf38b	A	T	3: 108,812,586 (GRCm39)	L209H	probably damaging	Het
R3hdm1	C	A	1: 128,112,254 (GRCm39)	A390E	probably benign	Het
Rb1cc1	A	C	1: 6,310,547 (GRCm39)	D315A	probably damaging	Het
Rnf141	G	A	7: 110,436,345 (GRCm39)	R28*	probably null	Het
Rps6kc1	A	T	1: 190,531,627 (GRCm39)	S792T	probably benign	Het
Rxrg	A	G	1: 167,458,606 (GRCm39)	D233G	possibly damaging	Het
Sh2d7	A	G	9: 54,448,321 (GRCm39)	N114S	probably benign	Het
Slc25a38	T	C	9: 119,949,899 (GRCm39)	V205A	probably benign	Het
Slc4a10	T	C	2: 62,127,361 (GRCm39)		probably benign	Het
Spred1	T	A	2: 116,983,459 (GRCm39)		probably null	Het
Stt3b	A	G	9: 115,077,635 (GRCm39)	S706P	probably benign	Het
Tcerg1	C	A	18: 42,697,305 (GRCm39)		probably benign	Het
Tent5a	T	C	9: 85,207,108 (GRCm39)	Y230C	probably damaging	Het
Thsd4	A	T	9: 59,910,261 (GRCm39)	I109N	probably damaging	Het
Ticrr	C	A	7: 79,344,236 (GRCm39)	P1367Q	probably damaging	Het
Trpv1	A	G	11: 73,130,255 (GRCm39)	D146G	probably damaging	Het
Tubd1	T	G	11: 86,448,602 (GRCm39)	V305G	possibly damaging	Het
Tubgcp4	T	C	2: 121,005,855 (GRCm39)	L81P	probably benign	Het
Ubxn2b	T	A	4: 6,196,404 (GRCm39)		probably null	Het
Usp36	A	T	11: 118,156,020 (GRCm39)	S586T	probably benign	Het
Vcan	T	A	13: 89,826,264 (GRCm39)	D2220V	probably damaging	Het
Vmn1r173	T	A	7: 23,402,216 (GRCm39)	N150K	probably damaging	Het
Vmn1r70	G	A	7: 10,368,204 (GRCm39)	A231T	probably damaging	Het
Vmn2r97	A	G	17: 19,167,930 (GRCm39)	D728G	probably damaging	Het
Zbtb40	T	C	4: 136,710,539 (GRCm39)	E1200G	probably damaging	Het
Zfp365	A	T	10: 67,733,436 (GRCm39)	V252D	probably damaging	Het

Other mutations in Nlrc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Nlrc3	APN	16	3,773,030 (GRCm39)	missense	probably damaging	1.00
IGL00943:Nlrc3	APN	16	3,782,981 (GRCm39)	missense	possibly damaging	0.94
IGL01481:Nlrc3	APN	16	3,781,769 (GRCm39)	missense	probably damaging	1.00
IGL01517:Nlrc3	APN	16	3,765,351 (GRCm39)	missense	probably damaging	0.99
IGL01988:Nlrc3	APN	16	3,771,803 (GRCm39)	missense	probably benign	0.43
IGL02306:Nlrc3	APN	16	3,782,688 (GRCm39)	missense	probably damaging	1.00
IGL02515:Nlrc3	APN	16	3,767,323 (GRCm39)	splice site	probably benign
IGL02795:Nlrc3	APN	16	3,783,149 (GRCm39)	missense	probably damaging	0.99
IGL02897:Nlrc3	APN	16	3,781,938 (GRCm39)	missense	possibly damaging	0.85
IGL02992:Nlrc3	APN	16	3,771,887 (GRCm39)	splice site	probably benign
IGL03003:Nlrc3	APN	16	3,782,726 (GRCm39)	missense	probably benign	0.03
IGL03381:Nlrc3	APN	16	3,782,179 (GRCm39)	missense	probably benign	0.03
R0064:Nlrc3	UTSW	16	3,781,951 (GRCm39)	missense	possibly damaging	0.82
R0064:Nlrc3	UTSW	16	3,781,951 (GRCm39)	missense	possibly damaging	0.82
R0122:Nlrc3	UTSW	16	3,776,822 (GRCm39)	missense	probably damaging	0.98
R0601:Nlrc3	UTSW	16	3,766,113 (GRCm39)	splice site	probably benign
R0622:Nlrc3	UTSW	16	3,771,832 (GRCm39)	missense	probably benign	0.04
R0675:Nlrc3	UTSW	16	3,766,775 (GRCm39)	missense	probably benign	0.01
R1595:Nlrc3	UTSW	16	3,783,166 (GRCm39)	missense	probably benign	0.03
R1597:Nlrc3	UTSW	16	3,781,859 (GRCm39)	missense	probably damaging	1.00
R2013:Nlrc3	UTSW	16	3,782,974 (GRCm39)	missense	probably damaging	1.00
R2077:Nlrc3	UTSW	16	3,781,856 (GRCm39)	missense	probably benign	0.35
R2327:Nlrc3	UTSW	16	3,771,304 (GRCm39)	missense	probably damaging	1.00
R2872:Nlrc3	UTSW	16	3,775,190 (GRCm39)	missense	possibly damaging	0.56
R2872:Nlrc3	UTSW	16	3,775,190 (GRCm39)	missense	possibly damaging	0.56
R3037:Nlrc3	UTSW	16	3,770,272 (GRCm39)	missense	probably damaging	1.00
R3794:Nlrc3	UTSW	16	3,765,739 (GRCm39)	missense	probably benign	0.22
R3843:Nlrc3	UTSW	16	3,782,828 (GRCm39)	missense	probably benign
R4761:Nlrc3	UTSW	16	3,781,514 (GRCm39)	missense	probably damaging	1.00
R5303:Nlrc3	UTSW	16	3,781,478 (GRCm39)	missense	probably benign	0.15
R5375:Nlrc3	UTSW	16	3,782,617 (GRCm39)	missense	possibly damaging	0.95
R5468:Nlrc3	UTSW	16	3,781,899 (GRCm39)	missense	probably damaging	1.00
R5719:Nlrc3	UTSW	16	3,781,589 (GRCm39)	missense	probably damaging	1.00
R5838:Nlrc3	UTSW	16	3,771,859 (GRCm39)	missense	probably damaging	1.00
R5879:Nlrc3	UTSW	16	3,781,909 (GRCm39)	missense	probably damaging	1.00
R5942:Nlrc3	UTSW	16	3,767,293 (GRCm39)	missense	probably damaging	1.00
R6500:Nlrc3	UTSW	16	3,770,308 (GRCm39)	missense	possibly damaging	0.79
R6600:Nlrc3	UTSW	16	3,782,938 (GRCm39)	missense	probably benign	0.29
R6704:Nlrc3	UTSW	16	3,782,945 (GRCm39)	missense	probably damaging	0.99
R7172:Nlrc3	UTSW	16	3,781,617 (GRCm39)	missense	probably benign	0.30
R7283:Nlrc3	UTSW	16	3,765,741 (GRCm39)	missense	probably benign	0.25
R7296:Nlrc3	UTSW	16	3,781,454 (GRCm39)	missense	probably damaging	0.99
R7477:Nlrc3	UTSW	16	3,782,675 (GRCm39)	missense	probably damaging	0.99
R7817:Nlrc3	UTSW	16	3,783,327 (GRCm39)	missense	possibly damaging	0.87
R8118:Nlrc3	UTSW	16	3,783,495 (GRCm39)	missense	probably benign
R8559:Nlrc3	UTSW	16	3,783,146 (GRCm39)	missense	probably benign	0.05
R8871:Nlrc3	UTSW	16	3,781,968 (GRCm39)	intron	probably benign
R9008:Nlrc3	UTSW	16	3,776,807 (GRCm39)	missense	possibly damaging	0.95
R9237:Nlrc3	UTSW	16	3,783,073 (GRCm39)	missense	probably benign	0.02
R9385:Nlrc3	UTSW	16	3,781,876 (GRCm39)	missense	probably damaging	1.00
R9430:Nlrc3	UTSW	16	3,783,396 (GRCm39)	missense	probably benign	0.00
R9509:Nlrc3	UTSW	16	3,782,680 (GRCm39)	missense	probably damaging	1.00
R9573:Nlrc3	UTSW	16	3,771,841 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- CTCTGGCCCAGCAATGAACAAAATG -3'
(R):5'- TCCATGAAGCGAGCATAGGCAATAC -3'

Sequencing Primer
(F):5'- AAATGCCTCACTAGCGTGGTC -3'
(R):5'- CGAGCATAGGCAATACGGGAG -3'

Posted On

2013-05-23