Mutagenetix > Incidental Mutation

Incidental Mutation 'R7611:Nlrc5'

588605

Institutional Source

Beutler Lab

Gene Symbol

Nlrc5

Ensembl Gene

ENSMUSG00000074151

Gene Name

NLR family, CARD domain containing 5

Synonyms

AI451557

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94434356-94527272 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 94512648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053085] [ENSMUST00000211816]

AlphaFold

C3VPR6

PDB Structure

The solution NMR structure of the NLRC5 caspase recruitment domain (CARD) [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000053085

SMART Domains

Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151

Domain	Start	End	E-Value	Type
low complexity region	136	151	N/A	INTRINSIC
Pfam:NACHT	223	386	1.8e-32	PFAM
LRR	716	743	6.89e1	SMART
LRR	744	771	9.86e1	SMART
LRR	772	796	1.22e2	SMART
LRR	844	870	2.16e2	SMART
LRR	871	898	1.76e-1	SMART
LRR	1006	1033	1.9e0	SMART
LRR	1034	1061	4.51e1	SMART
low complexity region	1141	1169	N/A	INTRINSIC
LRR	1240	1267	2.67e1	SMART
LRR	1273	1295	1.22e1	SMART
low complexity region	1341	1351	N/A	INTRINSIC
LRR	1519	1546	5.48e1	SMART
LRR	1547	1574	3.36e1	SMART
LRR	1575	1602	1.69e1	SMART
LRR	1603	1630	8.99e-1	SMART
LRR	1631	1654	5.26e0	SMART
LRR	1659	1686	2.81e0	SMART
LRR	1687	1714	1.6e-4	SMART
LRR	1715	1742	1.06e0	SMART
LRR	1743	1768	8e0	SMART
LRR	1793	1820	2.06e1	SMART
LRR	1821	1848	5.42e-2	SMART
LRR	1849	1876	3.54e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000211816

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal cytokine production induced by virus and bacteria infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	G	8: 45,970,451	Y75H	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy8	C	T	15: 64,921,033	G25S	probably benign	Het
Ahnak2	G	T	12: 112,788,129	D35E		Het
Birc6	T	C	17: 74,662,718	M4261T	probably damaging	Het
Caln1	T	G	5: 130,506,077	F45V	probably damaging	Het
Camta2	A	T	11: 70,681,546	I313N	possibly damaging	Het
Capns1	T	A	7: 30,190,114	E220V	probably damaging	Het
Carmil1	C	A	13: 24,013,332	V1374L	probably benign	Het
Casp2	T	G	6: 42,274,038	L290R	possibly damaging	Het
Cdkn2b	C	A	4: 89,310,743	V19L	probably benign	Het
Ces1c	T	C	8: 93,124,511	N162D	probably benign	Het
Chd9	T	C	8: 91,036,389	S2281P	probably damaging	Het
Chst13	T	C	6: 90,309,017	D321G	probably damaging	Het
Ckap2l	G	T	2: 129,285,680	P193T	possibly damaging	Het
Clca4b	T	A	3: 144,921,996	T405S	probably benign	Het
Cmah	T	C	13: 24,435,647	V265A	probably benign	Het
Cyp3a11	A	T	5: 145,860,381	M396K	probably benign	Het
Ddr2	A	T	1: 169,998,158	M291K	possibly damaging	Het
Ddx43	T	A	9: 78,402,353	I145N	probably benign	Het
Ddx58	T	C	4: 40,225,651	E250G	probably damaging	Het
Ephb2	T	A	4: 136,660,901		probably null	Het
Fgfr1	A	T	8: 25,558,205	K106*	probably null	Het
Gpr6	A	G	10: 41,070,879	F236L	probably benign	Het
Grin2c	A	G	11: 115,252,685	S750P	probably damaging	Het
Hecw2	A	G	1: 53,913,300	S925P	probably damaging	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Hmg20b	T	A	10: 81,349,598		probably benign	Het
Kcnk10	T	A	12: 98,518,640	Y79F	probably damaging	Het
Lrrc30	A	T	17: 67,632,429	F52Y	probably damaging	Het
Lrriq1	T	C	10: 103,200,571	K907R	possibly damaging	Het
Mbd3	T	C	10: 80,395,518	D63G	probably damaging	Het
Mettl21a	C	T	1: 64,615,107	A84T	probably benign	Het
Mmp19	A	G	10: 128,798,988	D491G	probably benign	Het
Mug1	A	T	6: 121,875,428		probably null	Het
Myh1	A	T	11: 67,210,417	H673L	possibly damaging	Het
Nme9	T	A	9: 99,470,790	S264R	probably benign	Het
Nup153	T	C	13: 46,687,322	T937A	probably benign	Het
Obsl1	T	C	1: 75,505,380	E282G	probably damaging	Het
Olfr1030	T	A	2: 85,984,063	C74*	probably null	Het
Olfr1076	T	A	2: 86,509,053	I198K	possibly damaging	Het
Olfr1364	A	G	13: 21,574,318	V46A	probably benign	Het
Olfr1436	T	A	19: 12,298,878	M85L	probably damaging	Het
Olfr1451	T	A	19: 12,999,067	I27N	possibly damaging	Het
Olfr724	C	A	14: 49,960,911	A54S	probably benign	Het
Olfr98	A	G	17: 37,262,854	V270A	probably benign	Het
Pcdhga12	T	C	18: 37,768,425	F770S	possibly damaging	Het
Pfkp	T	A	13: 6,605,083		probably null	Het
Prr29	C	G	11: 106,376,332	H58D	probably damaging	Het
Ptprz1	T	A	6: 23,001,220	M1103K	probably benign	Het
Rsph4a	C	T	10: 33,905,477	P108S	probably benign	Het
Setd1b	A	C	5: 123,152,594	M875L	unknown	Het
Slc15a2	A	G	16: 36,756,311	S485P	probably benign	Het
Smoc1	A	G	12: 81,179,670	D423G	probably damaging	Het
Spast	T	A	17: 74,369,203	V337D	probably damaging	Het
Spesp1	T	C	9: 62,272,705	K307R	possibly damaging	Het
Sulf1	A	G	1: 12,836,243	E503G	probably benign	Het
Susd6	T	C	12: 80,874,567	Y313H	probably damaging	Het
Them4	A	T	3: 94,331,558	D224V	possibly damaging	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Tspear	A	T	10: 77,881,215	T575S	probably benign	Het
Usp21	A	T	1: 171,285,569	H211Q	probably benign	Het
Vmn1r189	T	C	13: 22,102,152	S172G	probably benign	Het
Vmn2r114	T	C	17: 23,296,970	S516G	probably damaging	Het
Vmn2r28	T	A	7: 5,481,256	R648S	probably benign	Het
Vmn2r6	C	A	3: 64,565,142	V53F	probably damaging	Het
Vmn2r76	A	G	7: 86,230,180	I304T	probably benign	Het
Vmn2r88	A	C	14: 51,413,997	Y256S		Het
Zfhx4	A	T	3: 5,403,771	K3021N	probably damaging	Het
Zfp647	T	C	15: 76,911,788	H224R	probably damaging	Het
Zfp865	A	G	7: 5,031,131	E705G	probably damaging	Het

Other mutations in Nlrc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Nlrc5	APN	8	94502211	splice site	probably benign
IGL00232:Nlrc5	APN	8	94484623	critical splice donor site	probably null
IGL00324:Nlrc5	APN	8	94521479	missense	probably damaging	1.00
IGL02715:Nlrc5	APN	8	94474668	missense	probably damaging	1.00
IGL02992:Nlrc5	APN	8	94506573	missense	possibly damaging	0.69
IGL03095:Nlrc5	APN	8	94521908	splice site	probably benign
IGL03389:Nlrc5	APN	8	94521474	missense	probably damaging	1.00
IGL03406:Nlrc5	APN	8	94476855	missense	probably benign	0.01
cassis	UTSW	8	94476393	nonsense	probably null
cowberry	UTSW	8	94491525	missense	possibly damaging	0.83
lingon	UTSW	8	94481860	missense	probably damaging	1.00
R0037:Nlrc5	UTSW	8	94489535	missense	probably benign	0.00
R0048:Nlrc5	UTSW	8	94474656	missense	possibly damaging	0.81
R0092:Nlrc5	UTSW	8	94489594	splice site	probably benign
R0506:Nlrc5	UTSW	8	94493125	splice site	probably benign
R0548:Nlrc5	UTSW	8	94521783	missense	probably null	0.09
R2014:Nlrc5	UTSW	8	94525510	splice site	probably benign
R3051:Nlrc5	UTSW	8	94476715	missense	probably benign	0.01
R3776:Nlrc5	UTSW	8	94472839	missense	possibly damaging	0.48
R3837:Nlrc5	UTSW	8	94511301	splice site	probably benign
R4012:Nlrc5	UTSW	8	94475992	missense	possibly damaging	0.92
R4367:Nlrc5	UTSW	8	94476564	missense	probably damaging	1.00
R4400:Nlrc5	UTSW	8	94494353	missense	probably benign	0.08
R4469:Nlrc5	UTSW	8	94520839	missense	probably damaging	1.00
R4561:Nlrc5	UTSW	8	94477146	missense	probably damaging	1.00
R4584:Nlrc5	UTSW	8	94477275	missense	probably damaging	0.96
R4758:Nlrc5	UTSW	8	94512328	missense	possibly damaging	0.70
R4834:Nlrc5	UTSW	8	94505485	missense	probably benign	0.00
R4896:Nlrc5	UTSW	8	94521216	unclassified	probably benign
R5004:Nlrc5	UTSW	8	94521216	unclassified	probably benign
R5018:Nlrc5	UTSW	8	94525452	missense	probably damaging	1.00
R5115:Nlrc5	UTSW	8	94476819	missense	possibly damaging	0.67
R5116:Nlrc5	UTSW	8	94481860	missense	probably damaging	1.00
R5126:Nlrc5	UTSW	8	94474671	missense	possibly damaging	0.95
R5148:Nlrc5	UTSW	8	94476693	missense	probably damaging	1.00
R5224:Nlrc5	UTSW	8	94494316	missense	probably benign	0.26
R5527:Nlrc5	UTSW	8	94490416	missense	probably damaging	1.00
R5640:Nlrc5	UTSW	8	94475793	missense	probably benign	0.02
R5705:Nlrc5	UTSW	8	94475757	missense	probably benign	0.00
R5778:Nlrc5	UTSW	8	94479526	missense	possibly damaging	0.66
R5830:Nlrc5	UTSW	8	94472914	missense	probably damaging	1.00
R5850:Nlrc5	UTSW	8	94521047	missense	probably benign	0.00
R5978:Nlrc5	UTSW	8	94488593	missense	probably damaging	0.98
R6335:Nlrc5	UTSW	8	94502274	missense	probably benign	0.01
R6372:Nlrc5	UTSW	8	94479750	missense	probably damaging	0.98
R6486:Nlrc5	UTSW	8	94521299	splice site	probably null
R6765:Nlrc5	UTSW	8	94490368	missense	probably benign	0.20
R6861:Nlrc5	UTSW	8	94521229	unclassified	probably benign
R6869:Nlrc5	UTSW	8	94521955	missense	probably benign	0.00
R7134:Nlrc5	UTSW	8	94479722	missense	probably damaging	0.99
R7204:Nlrc5	UTSW	8	94491525	missense	possibly damaging	0.83
R7231:Nlrc5	UTSW	8	94521805	critical splice donor site	probably null
R7309:Nlrc5	UTSW	8	94474042	missense	probably benign	0.01
R7368:Nlrc5	UTSW	8	94476393	nonsense	probably null
R7497:Nlrc5	UTSW	8	94521970	missense	probably damaging	1.00
R7606:Nlrc5	UTSW	8	94477117	missense	possibly damaging	0.67
R7685:Nlrc5	UTSW	8	94521400	splice site	probably null
R7810:Nlrc5	UTSW	8	94505144	missense	possibly damaging	0.85
R7829:Nlrc5	UTSW	8	94521769	missense	probably damaging	1.00
R7910:Nlrc5	UTSW	8	94493092	missense	probably benign	0.00
R7921:Nlrc5	UTSW	8	94487664	missense	probably damaging	1.00
R8131:Nlrc5	UTSW	8	94481792	missense	probably damaging	1.00
R8237:Nlrc5	UTSW	8	94526125	missense	unknown
R8493:Nlrc5	UTSW	8	94523220	missense	probably damaging	1.00
R8888:Nlrc5	UTSW	8	94525490	missense	probably benign	0.04
R8964:Nlrc5	UTSW	8	94505488	missense	possibly damaging	0.54
R9053:Nlrc5	UTSW	8	94490385	missense	probably benign	0.00
R9058:Nlrc5	UTSW	8	94512310	missense	possibly damaging	0.86
R9161:Nlrc5	UTSW	8	94486646	missense	probably damaging	0.97
R9278:Nlrc5	UTSW	8	94511280	missense	probably benign	0.00
R9285:Nlrc5	UTSW	8	94472976	missense	probably damaging	1.00
R9405:Nlrc5	UTSW	8	94473024	missense	probably damaging	0.98
R9591:Nlrc5	UTSW	8	94522681	missense	probably damaging	1.00
R9620:Nlrc5	UTSW	8	94476406	missense	probably benign	0.44
RF021:Nlrc5	UTSW	8	94476888	missense	probably benign	0.16
Z1088:Nlrc5	UTSW	8	94504464	missense	possibly damaging	0.48
Z1177:Nlrc5	UTSW	8	94506580	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCTCTTAGAGGGACCTTCTGTC -3'
(R):5'- ACAGTTGTGGGACCAGCATC -3'

Sequencing Primer
(F):5'- GGACCTTCTGTCATGGTGACC -3'
(R):5'- AGGTTTGGCTTCCATAGACACAC -3'

Posted On

2019-10-24