Mutagenetix > Incidental Mutation

Incidental Mutation 'R0037:Nlrc5'

15591

Institutional Source

Beutler Lab

Gene Symbol

Nlrc5

Ensembl Gene

ENSMUSG00000074151

Gene Name

NLR family, CARD domain containing 5

Synonyms

AI451557

MMRRC Submission

038331-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0037 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

95160984-95253900 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95216163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 967 (V967M)

Ref Sequence

ENSEMBL: ENSMUSP00000148677 (fasta)

Gene Model

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

AlphaFold

C3VPR6

Predicted Effect

probably benign
Transcript: ENSMUST00000053085
AA Change: V967M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: V967M

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 benign
Transcript: ENSMUST00000182409
AA Change: V967M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000183132

Predicted Effect

probably benign
Transcript: ENSMUST00000211816
AA Change: V967M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 81.5%
3x: 73.9%
10x: 52.8%
20x: 32.9%

Validation Efficiency

94% (83/88)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	A	8: 111,769,891 (GRCm39)	R330Q	possibly damaging	Het
Amph	A	T	13: 19,284,823 (GRCm39)	S250C	possibly damaging	Het
Ankrd61	T	C	5: 143,831,795 (GRCm39)	N3S	probably damaging	Het
Camsap2	C	T	1: 136,209,630 (GRCm39)	E621K	probably damaging	Het
Cpt2	A	G	4: 107,765,171 (GRCm39)	S152P	probably damaging	Het
Csmd1	T	A	8: 15,967,248 (GRCm39)	Q3205L	probably damaging	Het
Dag1	G	T	9: 108,084,552 (GRCm39)	P863Q	probably damaging	Het
Dclk1	A	G	3: 55,163,480 (GRCm39)	I191V	probably benign	Het
Ddhd1	A	G	14: 45,847,967 (GRCm39)	L567P	probably damaging	Het
Enox1	T	C	14: 77,936,750 (GRCm39)		probably benign	Het
Exoc3	T	C	13: 74,347,658 (GRCm39)	E104G	probably damaging	Het
Foxp1	T	A	6: 99,139,930 (GRCm39)	Q17L	probably damaging	Het
Fscn1	A	G	5: 142,956,449 (GRCm39)		probably benign	Het
Fut8	T	C	12: 77,411,811 (GRCm39)	V91A	probably benign	Het
Gm5475	T	A	15: 100,322,083 (GRCm39)	Y77*	probably null	Het
Gm5800	T	C	14: 51,953,605 (GRCm39)		probably benign	Het
Hs2st1	T	A	3: 144,143,405 (GRCm39)	K213*	probably null	Het
Il5ra	T	A	6: 106,719,647 (GRCm39)	Y62F	probably damaging	Het
Inpp5d	A	G	1: 87,635,851 (GRCm39)	E734G	probably damaging	Het
Insig2	A	T	1: 121,234,649 (GRCm39)	C194S	probably damaging	Het
Lemd3	A	C	10: 120,761,361 (GRCm39)	H898Q	possibly damaging	Het
Lrp4	A	G	2: 91,301,548 (GRCm39)	T43A	probably benign	Het
Mast3	C	T	8: 71,236,343 (GRCm39)		probably null	Het
Melk	T	C	4: 44,360,864 (GRCm39)		probably benign	Het
Myo10	C	T	15: 25,666,618 (GRCm39)		probably benign	Het
Nlrp9b	T	A	7: 19,757,647 (GRCm39)	F295I	probably damaging	Het
Phf3	A	T	1: 30,843,999 (GRCm39)	D1653E	probably benign	Het
Ppfia4	A	T	1: 134,251,827 (GRCm39)	L449Q	probably damaging	Het
Ppp1r16b	T	A	2: 158,599,129 (GRCm39)	I367N	probably damaging	Het
Ralgapb	T	C	2: 158,279,331 (GRCm39)	L139S	probably damaging	Het
Slc20a1	T	C	2: 129,052,692 (GRCm39)	V658A	probably damaging	Het
Son	C	A	16: 91,461,616 (GRCm39)	A347E	probably damaging	Het
Tprg1l	C	A	4: 154,244,594 (GRCm39)	V134L	possibly damaging	Het
Trim24	A	T	6: 37,934,484 (GRCm39)	N733I	probably damaging	Het
Uggt1	A	T	1: 36,225,013 (GRCm39)	D540E	probably benign	Het
Urb2	T	A	8: 124,773,934 (GRCm39)	F1488L	probably damaging	Het
Utp20	T	C	10: 88,634,266 (GRCm39)	D810G	probably benign	Het
Zfp473	T	A	7: 44,383,324 (GRCm39)	K335N	probably damaging	Het

Other mutations in Nlrc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Nlrc5	APN	8	95,228,839 (GRCm39)	splice site	probably benign
IGL00232:Nlrc5	APN	8	95,211,251 (GRCm39)	critical splice donor site	probably null
IGL00324:Nlrc5	APN	8	95,248,107 (GRCm39)	missense	probably damaging	1.00
IGL02715:Nlrc5	APN	8	95,201,296 (GRCm39)	missense	probably damaging	1.00
IGL02992:Nlrc5	APN	8	95,233,201 (GRCm39)	missense	possibly damaging	0.69
IGL03095:Nlrc5	APN	8	95,248,536 (GRCm39)	splice site	probably benign
IGL03389:Nlrc5	APN	8	95,248,102 (GRCm39)	missense	probably damaging	1.00
IGL03406:Nlrc5	APN	8	95,203,483 (GRCm39)	missense	probably benign	0.01
cassis	UTSW	8	95,203,021 (GRCm39)	nonsense	probably null
cowberry	UTSW	8	95,218,153 (GRCm39)	missense	possibly damaging	0.83
lingon	UTSW	8	95,208,488 (GRCm39)	missense	probably damaging	1.00
R0048:Nlrc5	UTSW	8	95,201,284 (GRCm39)	missense	possibly damaging	0.81
R0092:Nlrc5	UTSW	8	95,216,222 (GRCm39)	splice site	probably benign
R0506:Nlrc5	UTSW	8	95,219,753 (GRCm39)	splice site	probably benign
R0548:Nlrc5	UTSW	8	95,248,411 (GRCm39)	missense	probably null	0.09
R2014:Nlrc5	UTSW	8	95,252,138 (GRCm39)	splice site	probably benign
R3051:Nlrc5	UTSW	8	95,203,343 (GRCm39)	missense	probably benign	0.01
R3776:Nlrc5	UTSW	8	95,199,467 (GRCm39)	missense	possibly damaging	0.48
R3837:Nlrc5	UTSW	8	95,237,929 (GRCm39)	splice site	probably benign
R4012:Nlrc5	UTSW	8	95,202,620 (GRCm39)	missense	possibly damaging	0.92
R4367:Nlrc5	UTSW	8	95,203,192 (GRCm39)	missense	probably damaging	1.00
R4400:Nlrc5	UTSW	8	95,220,981 (GRCm39)	missense	probably benign	0.08
R4469:Nlrc5	UTSW	8	95,247,467 (GRCm39)	missense	probably damaging	1.00
R4561:Nlrc5	UTSW	8	95,203,774 (GRCm39)	missense	probably damaging	1.00
R4584:Nlrc5	UTSW	8	95,203,903 (GRCm39)	missense	probably damaging	0.96
R4758:Nlrc5	UTSW	8	95,238,956 (GRCm39)	missense	possibly damaging	0.70
R4834:Nlrc5	UTSW	8	95,232,113 (GRCm39)	missense	probably benign	0.00
R4896:Nlrc5	UTSW	8	95,247,844 (GRCm39)	unclassified	probably benign
R5004:Nlrc5	UTSW	8	95,247,844 (GRCm39)	unclassified	probably benign
R5018:Nlrc5	UTSW	8	95,252,080 (GRCm39)	missense	probably damaging	1.00
R5115:Nlrc5	UTSW	8	95,203,447 (GRCm39)	missense	possibly damaging	0.67
R5116:Nlrc5	UTSW	8	95,208,488 (GRCm39)	missense	probably damaging	1.00
R5126:Nlrc5	UTSW	8	95,201,299 (GRCm39)	missense	possibly damaging	0.95
R5148:Nlrc5	UTSW	8	95,203,321 (GRCm39)	missense	probably damaging	1.00
R5224:Nlrc5	UTSW	8	95,220,944 (GRCm39)	missense	probably benign	0.26
R5527:Nlrc5	UTSW	8	95,217,044 (GRCm39)	missense	probably damaging	1.00
R5640:Nlrc5	UTSW	8	95,202,421 (GRCm39)	missense	probably benign	0.02
R5705:Nlrc5	UTSW	8	95,202,385 (GRCm39)	missense	probably benign	0.00
R5778:Nlrc5	UTSW	8	95,206,154 (GRCm39)	missense	possibly damaging	0.66
R5830:Nlrc5	UTSW	8	95,199,542 (GRCm39)	missense	probably damaging	1.00
R5850:Nlrc5	UTSW	8	95,247,675 (GRCm39)	missense	probably benign	0.00
R5978:Nlrc5	UTSW	8	95,215,221 (GRCm39)	missense	probably damaging	0.98
R6335:Nlrc5	UTSW	8	95,228,902 (GRCm39)	missense	probably benign	0.01
R6372:Nlrc5	UTSW	8	95,206,378 (GRCm39)	missense	probably damaging	0.98
R6486:Nlrc5	UTSW	8	95,247,927 (GRCm39)	splice site	probably null
R6765:Nlrc5	UTSW	8	95,216,996 (GRCm39)	missense	probably benign	0.20
R6861:Nlrc5	UTSW	8	95,247,857 (GRCm39)	unclassified	probably benign
R6869:Nlrc5	UTSW	8	95,248,583 (GRCm39)	missense	probably benign	0.00
R7134:Nlrc5	UTSW	8	95,206,350 (GRCm39)	missense	probably damaging	0.99
R7204:Nlrc5	UTSW	8	95,218,153 (GRCm39)	missense	possibly damaging	0.83
R7231:Nlrc5	UTSW	8	95,248,433 (GRCm39)	critical splice donor site	probably null
R7309:Nlrc5	UTSW	8	95,200,670 (GRCm39)	missense	probably benign	0.01
R7368:Nlrc5	UTSW	8	95,203,021 (GRCm39)	nonsense	probably null
R7497:Nlrc5	UTSW	8	95,248,598 (GRCm39)	missense	probably damaging	1.00
R7606:Nlrc5	UTSW	8	95,203,745 (GRCm39)	missense	possibly damaging	0.67
R7611:Nlrc5	UTSW	8	95,239,276 (GRCm39)	critical splice donor site	probably null
R7685:Nlrc5	UTSW	8	95,248,028 (GRCm39)	splice site	probably null
R7810:Nlrc5	UTSW	8	95,231,772 (GRCm39)	missense	possibly damaging	0.85
R7829:Nlrc5	UTSW	8	95,248,397 (GRCm39)	missense	probably damaging	1.00
R7910:Nlrc5	UTSW	8	95,219,720 (GRCm39)	missense	probably benign	0.00
R7921:Nlrc5	UTSW	8	95,214,292 (GRCm39)	missense	probably damaging	1.00
R8131:Nlrc5	UTSW	8	95,208,420 (GRCm39)	missense	probably damaging	1.00
R8237:Nlrc5	UTSW	8	95,252,753 (GRCm39)	missense	unknown
R8493:Nlrc5	UTSW	8	95,249,848 (GRCm39)	missense	probably damaging	1.00
R8888:Nlrc5	UTSW	8	95,252,118 (GRCm39)	missense	probably benign	0.04
R8964:Nlrc5	UTSW	8	95,232,116 (GRCm39)	missense	possibly damaging	0.54
R9053:Nlrc5	UTSW	8	95,217,013 (GRCm39)	missense	probably benign	0.00
R9058:Nlrc5	UTSW	8	95,238,938 (GRCm39)	missense	possibly damaging	0.86
R9161:Nlrc5	UTSW	8	95,213,274 (GRCm39)	missense	probably damaging	0.97
R9278:Nlrc5	UTSW	8	95,237,908 (GRCm39)	missense	probably benign	0.00
R9285:Nlrc5	UTSW	8	95,199,604 (GRCm39)	missense	probably damaging	1.00
R9405:Nlrc5	UTSW	8	95,199,652 (GRCm39)	missense	probably damaging	0.98
R9591:Nlrc5	UTSW	8	95,249,309 (GRCm39)	missense	probably damaging	1.00
R9620:Nlrc5	UTSW	8	95,203,034 (GRCm39)	missense	probably benign	0.44
RF021:Nlrc5	UTSW	8	95,203,516 (GRCm39)	missense	probably benign	0.16
Z1088:Nlrc5	UTSW	8	95,231,092 (GRCm39)	missense	possibly damaging	0.48
Z1177:Nlrc5	UTSW	8	95,233,208 (GRCm39)	critical splice donor site	probably null

Posted On

2012-12-21