Mutagenetix > Incidental Mutation

Incidental Mutation 'R4400:Nlrc5'

500606

Institutional Source

Beutler Lab

Gene Symbol

Nlrc5

Ensembl Gene

ENSMUSG00000074151

Gene Name

NLR family, CARD domain containing 5

Synonyms

AI451557

MMRRC Submission

041131-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4400 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95160984-95253900 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95220981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1140 (Q1140R)

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: Q1140R

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: Q1140R

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: Q1140R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000183132

Predicted Effect

probably benign
Transcript: ENSMUST00000211816
AA Change: Q1140R

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.3%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp4b	A	G	8: 13,438,810 (GRCm39)	F189L	probably damaging	Het
Atp8a1	A	T	5: 67,922,221 (GRCm39)	Y372N	probably benign	Het
Bves	T	C	10: 45,245,389 (GRCm39)	V354A	probably benign	Het
Cd79b	A	T	11: 106,202,836 (GRCm39)	Y195*	probably null	Het
Cog6	A	C	3: 52,920,362 (GRCm39)	D131E	probably benign	Het
Elp3	C	T	14: 65,785,539 (GRCm39)	E421K	possibly damaging	Het
Fbxw28	A	T	9: 109,157,378 (GRCm39)	F237Y	probably damaging	Het
Fezf1	T	C	6: 23,247,709 (GRCm39)	N122S	probably benign	Het
Galnt2	A	G	8: 125,051,042 (GRCm39)	K157E	probably damaging	Het
Git2	T	C	5: 114,871,970 (GRCm39)	E141G	possibly damaging	Het
Gm26888	T	C	11: 119,044,853 (GRCm39)		silent	Het
Gnrhr	T	C	5: 86,330,108 (GRCm39)		probably null	Het
Hoxd13	A	T	2: 74,500,359 (GRCm39)	D300V	probably damaging	Het
Hspg2	G	A	4: 137,275,433 (GRCm39)	A2748T	probably benign	Het
Hyal2	A	G	9: 107,448,052 (GRCm39)	N235S	probably damaging	Het
Itgam	T	G	7: 127,680,830 (GRCm39)	L253R	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Matr3	A	T	18: 35,716,969 (GRCm39)	K591N	possibly damaging	Het
Mep1a	T	A	17: 43,785,897 (GRCm39)	I731F	possibly damaging	Het
Mrtfa	G	A	15: 80,905,124 (GRCm39)	Q103*	probably null	Het
Muc5b	A	G	7: 141,415,124 (GRCm39)	D2690G	possibly damaging	Het
Or14c39	A	G	7: 86,343,798 (GRCm39)	I45V	probably benign	Het
Or5ac23	C	T	16: 59,148,961 (GRCm39)	V304I	probably benign	Het
Or6b6	A	G	7: 106,571,209 (GRCm39)	L114P	probably damaging	Het
Plcl1	T	C	1: 55,754,736 (GRCm39)	F1028L	probably damaging	Het
Plpp2	A	G	10: 79,363,327 (GRCm39)	V106A	possibly damaging	Het
Prpf8	A	G	11: 75,381,528 (GRCm39)	T255A	possibly damaging	Het
Shoc2	A	G	19: 54,019,660 (GRCm39)	I568V	probably benign	Het
Spopl	C	T	2: 23,407,957 (GRCm39)	V241M	probably damaging	Het
Ssrp1	A	T	2: 84,868,285 (GRCm39)	D9V	probably damaging	Het
Strn3	A	T	12: 51,694,883 (GRCm39)	D293E	possibly damaging	Het
Tbx3	G	T	5: 119,818,636 (GRCm39)	D404Y	probably damaging	Het
Tdrd7	T	C	4: 46,005,540 (GRCm39)	S416P	possibly damaging	Het
Trim60	G	T	8: 65,453,864 (GRCm39)	Y128*	probably null	Het
Tspoap1	T	C	11: 87,666,429 (GRCm39)	S947P	probably damaging	Het
Ttn	A	T	2: 76,612,739 (GRCm39)	S17113R	probably damaging	Het
Ubqln1	T	A	13: 58,341,202 (GRCm39)	N183I	probably damaging	Het
Ubr4	A	G	4: 139,189,167 (GRCm39)	N3917D	possibly damaging	Het
Ucp2	A	G	7: 100,148,557 (GRCm39)	*310W	probably null	Het
Wdr76	A	G	2: 121,359,314 (GRCm39)	M218V	probably damaging	Het
Zranb3	A	C	1: 127,884,392 (GRCm39)	L998R	possibly damaging	Het
Zxdc	G	A	6: 90,346,792 (GRCm39)	G51E	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
R0037:Nlrc5	UTSW	8	95,216,163 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GATATCGTGATGGCTGGTCACAG -3'
(R):5'- TGGTCCAGTACTTGAGGCTC -3'

Sequencing Primer
(F):5'- GCTGGTCACAGGAGAGTTG -3'
(R):5'- CAGTACTTGAGGCTCCTGGGAG -3'

Posted On

2017-12-01