Mutagenetix > Incidental Mutation

Incidental Mutation 'R0048:Nlrc5'

16006

Institutional Source

Beutler Lab

Gene Symbol

Nlrc5

Ensembl Gene

ENSMUSG00000074151

Gene Name

NLR family, CARD domain containing 5

Synonyms

AI451557

MMRRC Submission

038342-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0048 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

94434356-94527272 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94474656 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 126 (Y126F)

Ref Sequence

ENSEMBL: ENSMUSP00000148677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053085] [ENSMUST00000182409] [ENSMUST00000211816]

AlphaFold

C3VPR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053085
AA Change: Y126F

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: Y126F

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

possibly damaging
Transcript: ENSMUST00000182409
AA Change: Y126F

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211816
AA Change: Y126F

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212382

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 90.1%
3x: 87.7%
10x: 82.5%
20x: 75.5%

Validation Efficiency

94% (92/98)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,101,482	I299T	probably benign	Het
Ankrd12	A	G	17: 65,984,803	S1212P	probably damaging	Het
Ankrd50	A	G	3: 38,483,049	S52P	probably benign	Het
Aox1	A	G	1: 58,073,212	E715G	probably damaging	Het
Arid1b	T	C	17: 5,314,034		probably null	Het
Brca1	A	G	11: 101,524,977	V777A	possibly damaging	Het
Btaf1	G	T	19: 37,003,524	A1582S	probably benign	Het
Ccdc184	G	A	15: 98,168,460	A49T	probably damaging	Het
Cd109	A	C	9: 78,680,021	Y657S	possibly damaging	Het
Cfap53	A	T	18: 74,299,173	Y44F	probably benign	Het
Cped1	T	A	6: 22,119,602	N353K	probably benign	Het
Dcaf10	T	G	4: 45,374,262	Y562*	probably null	Het
Eno4	T	C	19: 58,964,538	M328T	possibly damaging	Het
Etv3l	T	C	3: 87,554,968		noncoding transcript	Het
Eya2	T	A	2: 165,716,011	Y176N	probably damaging	Het
Fat2	G	T	11: 55,310,039	H736Q	probably benign	Het
Fgfr2	A	T	7: 130,180,488		probably benign	Het
Gif	G	A	19: 11,749,756	V110M	possibly damaging	Het
Grhl1	A	T	12: 24,612,151		probably benign	Het
H60b	T	A	10: 22,287,231	M235K	probably benign	Het
Hal	T	A	10: 93,498,991	Y395N	probably damaging	Het
Hmcn2	T	C	2: 31,428,237	S3865P	possibly damaging	Het
Inpp5j	A	G	11: 3,501,417	V463A	probably damaging	Het
Iqgap3	A	T	3: 88,115,949	T516S	probably benign	Het
Itpr2	T	C	6: 146,232,291		probably null	Het
Jmjd4	C	A	11: 59,453,952	H244N	probably benign	Het
Klkb1	G	A	8: 45,289,196		probably benign	Het
Loxhd1	A	T	18: 77,408,778	Y1578F	probably damaging	Het
Lrp2	A	T	2: 69,465,627	D3379E	probably damaging	Het
Lrrfip1	C	T	1: 91,093,647		probably benign	Het
Mblac1	A	G	5: 138,194,465	Y23C	probably damaging	Het
Mfsd12	G	A	10: 81,362,814	V380I	possibly damaging	Het
Mroh9	G	A	1: 163,062,487	T227M	probably damaging	Het
Mtor	C	T	4: 148,538,881	Q2063*	probably null	Het
Ncstn	A	G	1: 172,069,961		probably benign	Het
Nek9	T	C	12: 85,301,899	T954A	probably benign	Het
Nr1d1	A	G	11: 98,770,478	S321P	probably benign	Het
Olfr273	C	A	4: 52,856,196	A106S	probably damaging	Het
Pkn2	T	C	3: 142,810,827	I513V	probably damaging	Het
Pls1	T	C	9: 95,787,063	E35G	probably damaging	Het
Polr3a	A	G	14: 24,469,255		probably benign	Het
Ptgfr	A	G	3: 151,835,091	V260A	possibly damaging	Het
Rabgap1l	A	G	1: 160,627,369		probably benign	Het
Raph1	T	C	1: 60,500,605	K423E	probably benign	Het
Rbm27	A	G	18: 42,298,464	D112G	probably benign	Het
Rbm46	A	T	3: 82,864,230	S359R	probably damaging	Het
Rhobtb3	A	T	13: 75,902,245	*100R	probably null	Het
Ryr2	T	C	13: 11,595,784	E4052G	probably damaging	Het
Sart3	G	T	5: 113,755,397	D346E	possibly damaging	Het
Sgsm1	A	G	5: 113,268,750	F629S	probably damaging	Het
Siglec1	T	C	2: 131,073,397	T1425A	possibly damaging	Het
Slc12a2	A	T	18: 57,915,522		probably benign	Het
Slc38a10	G	T	11: 120,110,312	P561T	probably benign	Het
Slc45a4	A	G	15: 73,605,436		probably benign	Het
Snx25	A	T	8: 46,105,109		probably benign	Het
Son	T	A	16: 91,658,977	H1537Q	possibly damaging	Het
Synpo2l	A	T	14: 20,666,272		probably benign	Het
Tarbp1	A	G	8: 126,447,530	Y846H	probably damaging	Het
Tgfb1	T	A	7: 25,694,354		probably benign	Het
Tigd2	C	A	6: 59,211,384	T412K	possibly damaging	Het
Umodl1	A	T	17: 30,968,477	N172Y	probably damaging	Het
Urah	C	T	7: 140,836,752	T46I	probably damaging	Het
Usp8	C	T	2: 126,737,889	P353L	probably damaging	Het
Vamp2	A	G	11: 69,089,759	D51G	possibly damaging	Het
Vps13a	A	T	19: 16,676,140	V1959E	probably damaging	Het
Wdr76	C	T	2: 121,535,419		probably benign	Het
Zbtb38	C	T	9: 96,687,676	V452M	probably damaging	Het
Zbtb41	A	G	1: 139,441,834	K650E	probably damaging	Het
Zfp532	A	G	18: 65,644,333	Y887C	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
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
R7611:Nlrc5	UTSW	8	94512648	critical splice donor site	probably null
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

Posted On

2013-01-08