Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02715:Nlrc5'

304722

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrc5

Ensembl Gene

ENSMUSG00000074151

Gene Name

NLR family, CARD domain containing 5

Synonyms

AI451557

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02715

Quality Score

Status

Chromosome

Chromosomal Location

95160984-95253900 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95201296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 130 (P130H)

Ref Sequence

ENSEMBL: ENSMUSP00000148677 (fasta)

Gene Model

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

AlphaFold

C3VPR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000053085
AA Change: P130H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: P130H

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: P130H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211816
AA Change: P130H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212382

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,089,714 (GRCm39)	I57V	probably damaging	Het
Abce1	T	A	8: 80,416,990 (GRCm39)	E340D	probably damaging	Het
Agbl2	C	T	2: 90,636,212 (GRCm39)	R583W	probably damaging	Het
Aig1	A	G	10: 13,744,360 (GRCm39)		probably null	Het
Atpsckmt	A	G	15: 31,606,149 (GRCm39)	T36A	probably benign	Het
Brd3	C	A	2: 27,344,495 (GRCm39)	A412S	possibly damaging	Het
C3	A	G	17: 57,511,158 (GRCm39)		probably benign	Het
Ccdc127	A	G	13: 74,504,893 (GRCm39)	E147G	probably benign	Het
Chrna4	A	G	2: 180,671,374 (GRCm39)		probably benign	Het
Cnn2	T	C	10: 79,829,323 (GRCm39)	L151P	probably damaging	Het
Col11a1	G	T	3: 113,923,058 (GRCm39)	M7I	probably benign	Het
Cstdc4	T	C	16: 36,008,315 (GRCm39)	I67T	possibly damaging	Het
Fastkd1	A	G	2: 69,542,469 (GRCm39)		probably null	Het
Fcho2	A	G	13: 98,932,843 (GRCm39)	M53T	probably damaging	Het
Fmnl2	T	C	2: 52,962,222 (GRCm39)	Y236H	possibly damaging	Het
G6bos	A	G	17: 35,284,537 (GRCm39)		probably null	Het
Gramd1a	C	T	7: 30,835,279 (GRCm39)	G436D	probably damaging	Het
Hivep2	A	G	10: 14,007,131 (GRCm39)	Y1243C	probably benign	Het
Lrit2	A	G	14: 36,794,505 (GRCm39)	D523G	probably benign	Het
Lrrc2	A	C	9: 110,799,182 (GRCm39)	D177A	probably damaging	Het
Lyst	T	A	13: 13,848,905 (GRCm39)		probably null	Het
Mrgpra6	A	T	7: 46,838,396 (GRCm39)		probably benign	Het
Myh6	T	C	14: 55,184,365 (GRCm39)		probably benign	Het
Myzap	C	A	9: 71,422,397 (GRCm39)	E392*	probably null	Het
Ndst3	G	A	3: 123,340,410 (GRCm39)		probably benign	Het
Obscn	T	C	11: 58,971,137 (GRCm39)	T2526A	probably benign	Het
Or1e26	T	A	11: 73,479,947 (GRCm39)	I206F	probably benign	Het
Pcnt	C	A	10: 76,204,556 (GRCm39)		probably benign	Het
Pfpl	T	A	19: 12,407,145 (GRCm39)	C465*	probably null	Het
Pkd1l3	T	A	8: 110,353,458 (GRCm39)	C680S	probably damaging	Het
Ppp1r10	G	T	17: 36,241,604 (GRCm39)	G793V	unknown	Het
Prss27	A	T	17: 24,263,953 (GRCm39)	D213V	possibly damaging	Het
Sh2d5	T	C	4: 137,984,018 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,851,549 (GRCm39)	D193G	probably benign	Het
Sptan1	T	C	2: 29,868,588 (GRCm39)	V66A	probably benign	Het
Synpr	T	C	14: 13,608,618 (GRCm38)	S133P	probably damaging	Het
Tagln3	T	C	16: 45,544,588 (GRCm39)	N28D	probably benign	Het
Tfrc	A	G	16: 32,443,189 (GRCm39)	T494A	probably benign	Het
Tmem38a	T	C	8: 73,333,512 (GRCm39)	I77T	possibly damaging	Het
Tmem42	C	A	9: 122,851,295 (GRCm39)	T86N	probably damaging	Het
Ttc8	T	A	12: 98,910,179 (GRCm39)		probably benign	Het
Tub	G	A	7: 108,628,517 (GRCm39)	V342I	probably benign	Het
Vmn2r103	A	T	17: 20,014,218 (GRCm39)	I337F	probably damaging	Het
Xkr7	A	G	2: 152,896,277 (GRCm39)	E377G	probably damaging	Het
Zfp292	C	T	4: 34,819,542 (GRCm39)	G260D	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
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
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

2015-04-16