Mutagenetix > Incidental Mutation

Incidental Mutation 'R5640:Nlrc5'

440608

Institutional Source

Beutler Lab

Gene Symbol

Nlrc5

Ensembl Gene

ENSMUSG00000074151

Gene Name

NLR family, CARD domain containing 5

Synonyms

AI451557

MMRRC Submission

043289-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94434356-94527272 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94475793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 174 (T174A)

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: T174A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: T174A

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: T174A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000211816
AA Change: T174A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,970,685	Y220C	probably damaging	Het
Actl6a	A	G	3: 32,718,050	T170A	probably damaging	Het
Adamts8	T	C	9: 30,956,500	V540A	probably benign	Het
Aga	T	C	8: 53,511,884	L27P	probably damaging	Het
Agmat	T	A	4: 141,755,823	H189Q	probably damaging	Het
Alx3	C	A	3: 107,600,661	T162K	probably damaging	Het
Armc2	T	A	10: 42,011,898	I30L	possibly damaging	Het
Arntl	C	T	7: 113,308,681	P530L	probably damaging	Het
Atp10d	T	G	5: 72,247,209	Y487D	probably damaging	Het
Atp13a4	C	T	16: 29,415,831	M908I	probably damaging	Het
B4galt2	T	G	4: 117,873,998	N322T	probably benign	Het
Brdt	A	T	5: 107,359,308	K525*	probably null	Het
Ces3a	T	A	8: 105,051,745	M246K	probably benign	Het
Chd9	T	A	8: 91,036,562	H2338Q	probably damaging	Het
Cyp3a16	T	A	5: 145,452,823	D244V	possibly damaging	Het
Dhrs9	C	A	2: 69,394,478	A170E	probably damaging	Het
Dlg5	T	C	14: 24,170,461	N550D	probably damaging	Het
Dnah8	C	T	17: 30,803,108	T3894I	probably damaging	Het
Dpys	T	C	15: 39,842,066	H217R	probably damaging	Het
Dpysl2	C	T	14: 66,834,368	V108I	probably benign	Het
Eprs	A	G	1: 185,374,184	T199A	probably benign	Het
Fads1	A	G	19: 10,186,403	D183G	probably damaging	Het
Fam110b	T	G	4: 5,798,689	Y36D	probably damaging	Het
Fbxl21	G	A	13: 56,537,381	D407N	probably benign	Het
Fuca2	G	A	10: 13,507,430		probably null	Het
Gm8251	T	C	1: 44,061,927	I4V	probably benign	Het
Gnas	C	A	2: 174,284,971	R100S	probably benign	Het
Gse1	A	G	8: 120,562,677	H90R	possibly damaging	Het
Hoxc10	G	T	15: 102,967,267	C137F	probably benign	Het
Ipp	T	G	4: 116,520,689	L252R	possibly damaging	Het
Jmjd1c	T	A	10: 67,226,078	S1403R	probably benign	Het
Kif19a	A	G	11: 114,779,215	M79V	probably benign	Het
Lipo4	T	C	19: 33,501,586	T285A	possibly damaging	Het
Lrrc66	A	T	5: 73,608,634	D355E	probably benign	Het
Lrsam1	T	A	2: 32,945,852	Q301L	probably benign	Het
Med6	C	T	12: 81,581,854	R138Q	probably damaging	Het
Nrbp1	C	T	5: 31,249,585	R322W	possibly damaging	Het
Olfr1256	T	A	2: 89,835,938	E2D	probably benign	Het
Olfr1338	T	A	4: 118,753,789	T250S	probably benign	Het
Olfr739	C	A	14: 50,424,654	A45D	probably benign	Het
Pde3a	A	G	6: 141,483,915	E734G	probably damaging	Het
Pnpla7	C	T	2: 25,003,001	T167I	possibly damaging	Het
Pop7	T	C	5: 137,502,059	N4S	possibly damaging	Het
Ppm1h	C	A	10: 122,782,278	P114Q	probably benign	Het
Prdm16	T	C	4: 154,341,910	T473A	probably benign	Het
Prdm6	T	C	18: 53,536,741		probably null	Het
Prkdc	T	G	16: 15,829,769	W3686G	possibly damaging	Het
Ptchd4	C	A	17: 42,503,135	H642Q	possibly damaging	Het
Rad1	A	G	15: 10,495,923	Y228C	possibly damaging	Het
Rgs22	G	A	15: 36,106,955	T56I	probably benign	Het
Rnf135	C	A	11: 80,193,907	H169N	probably benign	Het
Rnft1	C	T	11: 86,486,493	Q128*	probably null	Het
Sez6	T	C	11: 77,973,759		probably benign	Het
Sh3rf3	A	G	10: 58,813,947	S125G	probably benign	Het
Sik2	T	C	9: 50,915,506	E295G	possibly damaging	Het
Themis	A	G	10: 28,863,376	Q614R	probably damaging	Het
Thsd7b	T	A	1: 130,116,671	C1129*	probably null	Het
Tmem68	A	T	4: 3,569,512	F59L	probably benign	Het
Tmem8	C	T	17: 26,118,872	T410I	possibly damaging	Het
Vmn2r107	A	G	17: 20,375,164	T660A	probably damaging	Het
Vwa5b2	G	T	16: 20,597,542	C484F	probably damaging	Het
Zfp418	T	A	7: 7,181,981	C314*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGTGGACTAAAGACAGC -3'
(R):5'- CCGATATGCCAGAGTGGTCTTAC -3'

Sequencing Primer
(F):5'- CAGCAGGATGATCATAGAGCCC -3'
(R):5'- GATATGCCAGAGTGGTCTTACCCATC -3'

Posted On

2016-11-08