Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Nlrc3'

266698

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

040460-MU

Accession Numbers

Essential gene?

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

Stock #

R2872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3762871-3794496 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3775190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 774 (D774G)

Ref Sequence

ENSEMBL: ENSMUSP00000137628 (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: D774G

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: D774G

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
AA Change: D69G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871
AA Change: D69G

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 benign
Transcript: ENSMUST00000229884
AA Change: D758G

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1392

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (72/73)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,201,530 (GRCm39)		probably benign	Het
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Akr1e1	G	A	13: 4,652,683 (GRCm39)		silent	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Knop1	T	C	7: 118,455,186 (GRCm39)		probably null	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Ndufs1	A	G	1: 63,203,882 (GRCm39)		probably benign	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Plxna3	T	A	X: 73,383,002 (GRCm39)		probably benign	Homo
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Prps1	C	T	X: 139,372,743 (GRCm39)		probably benign	Homo
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably damaging	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
R0482:Nlrc3	UTSW	16	3,783,056 (GRCm39)	missense	possibly damaging	0.81
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
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'- CATGCCTTCCAGGGTCTATAC -3'
(R):5'- TTTCTAGTTGTCGGGCAGCTAC -3'

Sequencing Primer
(F):5'- CCTTCCAGGGTCTATACAGGTAG -3'
(R):5'- GGTCCTTGAAAATGTCACATCGTC -3'

Posted On

2015-02-18