Mutagenetix > Incidental Mutations

Incidental Mutation 'R4584:Nlrc5'

343923

Institutional Source

Beutler Lab

Gene Symbol

Nlrc5

Ensembl Gene

ENSMUSG00000074151

Gene Name

NLR family, CARD domain containing 5

Synonyms

AI451557

MMRRC Submission

041805-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94434356-94527272 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 94477275 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 668 (I668L)

Ref Sequence

ENSEMBL: ENSMUSP00000148677 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000053085
AA Change: I668L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: I668L

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 damaging
Transcript: ENSMUST00000182409
AA Change: I668L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000183132

Predicted Effect

probably damaging
Transcript: ENSMUST00000211816
AA Change: I668L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.2031

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (86/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,160,017	N343D	probably damaging	Het
9530002B09Rik	T	A	4: 122,701,186	D78E	possibly damaging	Het
A2m	C	A	6: 121,657,406	D632E	probably benign	Het
Alpk2	A	G	18: 65,306,964	S453P	probably damaging	Het
Birc2	A	T	9: 7,833,674	F269I	probably damaging	Het
Ccdc66	G	A	14: 27,500,511	P92S	probably benign	Het
Cdc34	T	A	10: 79,688,035	D108E	possibly damaging	Het
Cdk5rap2	A	C	4: 70,266,760	V1151G	probably damaging	Het
Cemip	T	C	7: 83,958,539	K753R	probably damaging	Het
Cep295	A	T	9: 15,334,799	L787Q	possibly damaging	Het
Cideb	T	C	14: 55,758,270	N8S	probably benign	Het
Dagla	A	G	19: 10,271,009	Y96H	probably damaging	Het
Dapl1	C	A	2: 59,504,742	T80K	possibly damaging	Het
Ddx6	T	C	9: 44,624,487	V171A	probably damaging	Het
Dnah12	C	A	14: 26,772,594	T34K	probably damaging	Het
Dnhd1	T	C	7: 105,678,049	L735P	probably damaging	Het
Ep400	T	A	5: 110,733,897		probably benign	Het
Erlin1	G	T	19: 44,069,319	Y22*	probably null	Het
Gm11127	A	T	17: 36,057,667	M123K	probably damaging	Het
Gm13212	T	A	4: 145,617,177		probably null	Het
Gm5771	T	C	6: 41,396,767	L188P	probably benign	Het
Gmcl1	A	G	6: 86,722,623	S141P	probably damaging	Het
Gtf2a1	C	T	12: 91,562,926	V338I	possibly damaging	Het
Ighv1-66	T	A	12: 115,593,396	Q22L	possibly damaging	Het
Igkv4-80	T	C	6: 69,016,736	Y57C	probably damaging	Het
Itpk1	G	A	12: 102,570,157	A410V	possibly damaging	Het
Itsn1	T	A	16: 91,820,583		probably benign	Het
Kcnk3	G	T	5: 30,588,386	A24S	probably damaging	Het
Kif20a	A	G	18: 34,632,611	Y887C	probably damaging	Het
Klf13	T	C	7: 63,937,970	T193A	possibly damaging	Het
Klhl9	G	T	4: 88,721,907	H32Q	probably damaging	Het
Kndc1	C	G	7: 139,901,243	P82A	probably damaging	Het
Llgl1	T	A	11: 60,712,082	L861Q	probably damaging	Het
Lpcat2	A	G	8: 92,889,371	E305G	probably damaging	Het
Mib2	C	A	4: 155,657,287	A293S	probably damaging	Het
Mtfr1	A	G	3: 19,215,602	E138G	probably damaging	Het
Myoz1	A	G	14: 20,650,595	W185R	probably damaging	Het
Ninj1	T	A	13: 49,193,966		probably null	Het
Nlgn2	A	T	11: 69,834,278	V54E	possibly damaging	Het
Npy6r	T	A	18: 44,276,195	C228S	probably damaging	Het
Nufip2	T	C	11: 77,741,728	V690A	unknown	Het
Nup107	T	C	10: 117,766,368	I513M	probably benign	Het
Oit3	T	C	10: 59,425,462	D461G	probably damaging	Het
Olfr324	T	A	11: 58,598,004	F205I	probably benign	Het
Paxbp1	T	C	16: 91,034,123	D455G	probably damaging	Het
Pcdh7	A	T	5: 57,721,283	T727S	probably damaging	Het
Pex14	G	A	4: 148,970,596	A113V	probably damaging	Het
Phc3	A	G	3: 30,965,882	V23A	possibly damaging	Het
Plec	T	C	15: 76,231,206	D56G	possibly damaging	Het
Plekha7	C	A	7: 116,237,533		probably benign	Het
Prdm16	T	C	4: 154,337,683	E885G	probably damaging	Het
Psd2	A	G	18: 36,012,828	T762A	probably benign	Het
Psme4	T	A	11: 30,834,318	H964Q	probably damaging	Het
Rbak	C	T	5: 143,176,123	V51I	probably benign	Het
Rbfa	A	G	18: 80,200,506	L15P	probably benign	Het
Ren1	T	C	1: 133,354,808	Y84H	probably damaging	Het
Rps6ka5	A	T	12: 100,581,318	I311N	probably damaging	Het
Samd14	T	A	11: 95,021,535		probably null	Het
Scaf4	T	C	16: 90,229,515		probably benign	Het
Serpina12	A	T	12: 104,038,352	L7Q	unknown	Het
Serpinb9d	A	T	13: 33,200,616	E192V	probably damaging	Het
Slc22a29	A	T	19: 8,169,291	F382L	probably benign	Het
Snta1	T	A	2: 154,378,115	D375V	probably benign	Het
Stat5b	T	A	11: 100,787,238	Y683F	probably damaging	Het
Strip1	A	T	3: 107,624,503	Y257N	probably benign	Het
Sugp2	A	G	8: 70,251,898	H695R	probably benign	Het
Svep1	T	A	4: 58,068,526	R3087*	probably null	Het
Syngr2	T	C	11: 117,813,121	V138A	probably damaging	Het
Thra	T	C	11: 98,764,484	F397L	probably benign	Het
Tmem45b	T	A	9: 31,428,655	I149F	probably damaging	Het
Tmprss11f	C	T	5: 86,539,694		probably null	Het
Ush2a	C	T	1: 188,451,798	T1433I	probably benign	Het
Vmn2r109	A	T	17: 20,554,558	Y178*	probably null	Het
Vmn2r84	T	G	10: 130,390,713	M419L	probably benign	Het
Wnk2	C	T	13: 49,090,837	D508N	probably damaging	Het
Zfp276	A	G	8: 123,268,406		probably benign	Het
Zfp568	T	G	7: 29,998,192	F100V	probably benign	Het
Zfp667	T	A	7: 6,290,625	D41E	possibly 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
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
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'- TTGGCTAGCCGGAAACTCAC -3'
(R):5'- ACTAAATGAGTACGGGACATGC -3'

Sequencing Primer
(F):5'- TAGCCGGAAACTCACAGGGC -3'
(R):5'- AGTCAAGACTTGAGTCCAGTCTTTC -3'

Posted On

2015-09-24