Mutagenetix > Incidental Mutation

Incidental Mutation 'R1511:Nlrp5'

168309

Institutional Source

Beutler Lab

Gene Symbol

Nlrp5

Ensembl Gene

ENSMUSG00000015721

Gene Name

NLR family, pyrin domain containing 5

Synonyms

Mater, Nalp5, Op1

MMRRC Submission

039558-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R1511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23385889-23441922 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23413347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 143 (D143V)

Ref Sequence

ENSEMBL: ENSMUSP00000122007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015866] [ENSMUST00000086341] [ENSMUST00000108441] [ENSMUST00000133237] [ENSMUST00000139661]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000015866
AA Change: D143V

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

SMART Domains

Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: D143V

Domain	Start	End	E-Value	Type
Pfam:NACHT	191	359	3.5e-45	PFAM
LRR	691	718	4.51e1	SMART
LRR	747	774	1.36e-2	SMART
LRR	776	803	6.79e0	SMART
LRR	804	831	4.3e0	SMART
LRR	833	860	1.42e0	SMART
LRR	861	888	1.2e-3	SMART
LRR	890	917	1.2e2	SMART
LRR	918	945	2.2e-2	SMART
LRR	947	974	1.56e2	SMART
LRR	975	1002	3.36e-7	SMART
LRR	1004	1031	6.04e1	SMART
LRR	1032	1059	1.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086341

SMART Domains

Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721

Domain	Start	End	E-Value	Type
Pfam:NACHT	175	343	1.5e-44	PFAM
LRR	675	702	4.51e1	SMART
LRR	731	758	1.36e-2	SMART
LRR	760	787	6.79e0	SMART
LRR	788	815	4.3e0	SMART
LRR	817	844	1.42e0	SMART
LRR	845	872	1.2e-3	SMART
LRR	874	901	1.2e2	SMART
LRR	902	929	2.2e-2	SMART
LRR	931	958	1.56e2	SMART
LRR	959	986	3.36e-7	SMART
LRR	988	1015	6.04e1	SMART
LRR	1016	1043	1.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108441
AA Change: D143V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: D143V

Domain	Start	End	E-Value	Type
Pfam:NACHT	191	359	1.5e-44	PFAM
LRR	691	718	4.51e1	SMART
LRR	747	774	1.36e-2	SMART
LRR	776	803	6.79e0	SMART
LRR	804	831	4.3e0	SMART
LRR	833	860	1.42e0	SMART
LRR	861	888	1.2e-3	SMART
LRR	890	917	1.2e2	SMART
LRR	918	945	2.2e-2	SMART
LRR	947	974	1.56e2	SMART
LRR	975	1002	3.36e-7	SMART
LRR	1004	1033	1.28e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000133237
AA Change: D143V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: D143V

Domain	Start	End	E-Value	Type
Pfam:NACHT	191	359	1.3e-44	PFAM
LRR	691	718	4.51e1	SMART
LRR	747	774	1.36e-2	SMART
LRR	776	803	6.79e0	SMART
LRR	804	831	4.3e0	SMART
LRR	833	860	1.42e0	SMART
LRR	861	888	1.2e-3	SMART
LRR	890	917	1.2e2	SMART
LRR	918	945	2.2e-2	SMART
LRR	947	974	1.56e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139661
AA Change: D143V

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

SMART Domains

Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: D143V

Domain	Start	End	E-Value	Type
Pfam:NACHT	191	359	1.6e-44	PFAM
Blast:LRR	691	718	8e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207536

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the NACHT, leucine-rich repeat, and pyrin domain containing family. Members of this family have a pyrin domain at the N-terminus, a central NACHT domain, and a C-terminal leucine-rich repeat domain. This gene encodes a maternal-effect factor that is essential for early embryonic development in the mouse. Homozygous null mutant females are sterile, and embryos die following the first cleavage. This gene is required for endoplasmic reticulum redistribution and calcium homeostasis in oocytes. In addition, ovulated oocytes mutant for this gene have abnormal mitochondrial localization and increased mitochondrial activity, which results in mitochondrial damage and early embryonic lethality. Pseudogenes of this gene have been found on chromosomes 7 and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,514,977	N576K	probably benign	Het
Abca5	G	T	11: 110,299,978	L769M	probably damaging	Het
Abca5	T	A	11: 110,299,986	H766L	possibly damaging	Het
Acvr1c	A	G	2: 58,287,884	I191T	probably damaging	Het
Agps	A	T	2: 75,866,779	E314D	probably damaging	Het
Agxt	G	A	1: 93,135,768	G131R	probably damaging	Het
Ak8	A	G	2: 28,742,746	T326A	probably benign	Het
Aldoart2	T	A	12: 55,566,277	I329N	probably benign	Het
Apaf1	T	C	10: 91,060,185	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,527,161	S68P	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
AU022252	C	T	4: 119,228,097	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,217,782	L695P	probably damaging	Het
Baz2b	A	T	2: 59,962,024	S587T	probably benign	Het
Cep76	T	C	18: 67,624,958	M421V	probably benign	Het
Clk2	A	G	3: 89,168,703	D60G	probably damaging	Het
Clstn3	G	T	6: 124,462,169	T6K	probably damaging	Het
Cluap1	T	A	16: 3,919,558	D180E	probably benign	Het
Col12a1	T	C	9: 79,699,552	I530V	probably benign	Het
Cpt1a	T	C	19: 3,365,788		probably benign	Het
Cr2	T	G	1: 195,155,272	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,554,112	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,585,250		probably benign	Het
Cxcr1	T	C	1: 74,192,770	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,835,936	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,222,727	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,236,278	V462A	probably benign	Het
Elmo1	A	G	13: 20,290,477	K357R	possibly damaging	Het
Eml6	T	A	11: 29,818,374	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,832,664	I370T	probably benign	Het
Esp36	A	T	17: 38,417,281	N79K	possibly damaging	Het
Fam229b	A	G	10: 39,118,919	*81Q	probably null	Het
Fat4	T	C	3: 38,983,076	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,306,285	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,445,469		noncoding transcript	Het
Galm	C	A	17: 80,183,267	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,159,102	S735T	probably benign	Het
Hsph1	A	T	5: 149,630,383	S207T	probably benign	Het
Il33	C	T	19: 29,955,215	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,169,324		probably null	Het
Kirrel2	A	G	7: 30,456,498	C42R	probably damaging	Het
Letm1	A	C	5: 33,752,555	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,745,484	K160N	probably benign	Het
Lrrtm3	A	G	10: 64,089,025	I121T	probably damaging	Het
Lztr1	T	A	16: 17,509,670	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,278	D378E	probably damaging	Het
Mpzl3	A	G	9: 45,066,529	E145G	probably damaging	Het
Mrps2	C	T	2: 28,469,664	L178F	probably damaging	Het
Mzb1	A	G	18: 35,647,822		probably null	Het
Nckap1	T	C	2: 80,553,415	D135G	probably damaging	Het
Ndst1	A	G	18: 60,697,170	F623L	possibly damaging	Het
Olfr1225	A	G	2: 89,170,937	S92P	probably damaging	Het
Olfr1241	T	C	2: 89,482,248	M296V	probably null	Het
Olfr1311	A	G	2: 112,021,404	V150A	probably benign	Het
Olfr146	T	C	9: 39,019,025	D172G	probably benign	Het
Olfr307	T	C	7: 86,336,345	D17G	possibly damaging	Het
Olfr32	A	G	2: 90,138,404	V245A	probably benign	Het
Olfr548-ps1	T	C	7: 102,542,125	L63P	probably damaging	Het
Olfr907	A	G	9: 38,498,818	I50V	probably benign	Het
Parp14	T	G	16: 35,857,224	E791D	probably benign	Het
Pcdh8	C	T	14: 79,769,389	R578H	possibly damaging	Het
Phrf1	T	A	7: 141,259,801		probably benign	Het
Polr3b	C	A	10: 84,680,385	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,251,859	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,182,460	V33D	probably damaging	Het
Ppp5c	A	G	7: 17,009,982	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,197,005	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,972,130	V122M	probably damaging	Het
Rasef	G	T	4: 73,735,748	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,195,634	S198P	probably damaging	Het
Rbm12	A	T	2: 156,097,536	M272K	probably damaging	Het
Rexo1	T	G	10: 80,550,050	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,731,347	S384P	probably benign	Het
Rpsa	A	T	9: 120,131,000	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,098,952	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,526,813	D1048V	probably benign	Het
Sec11a	T	C	7: 80,927,734		probably null	Het
Sidt2	A	G	9: 45,950,089	V19A	probably damaging	Het
Snx14	G	A	9: 88,398,364	Q522*	probably null	Het
Stx1b	A	G	7: 127,814,972	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,609,878	M371K	probably benign	Het
Tmem115	T	C	9: 107,534,975	V166A	probably benign	Het
Traf5	T	A	1: 191,999,951	T310S	probably benign	Het
Trdn	A	G	10: 33,466,452	K619E	probably benign	Het
Trmt10a	T	A	3: 138,152,184		probably null	Het
Txk	A	C	5: 72,707,671	I287R	probably damaging	Het
Txndc16	T	C	14: 45,151,887	D452G	probably damaging	Het
Ube2f	G	A	1: 91,262,301		probably null	Het
Ubtfl1	T	G	9: 18,410,193	I339R	probably benign	Het
Upf1	A	G	8: 70,338,505	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,328,653	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,786	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,321,270	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,608,496	R485*	probably null	Het
Vmn2r-ps130	A	G	17: 23,063,801	T152A	probably benign	Het
Vps13b	T	C	15: 35,839,975	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,573	N2583S	probably benign	Het
Wscd1	C	T	11: 71,788,675	P458L	probably damaging	Het
Xylt2	T	A	11: 94,670,433	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,467,972	T306A	probably benign	Het
Zfp804b	A	T	5: 6,769,771	D1097E	possibly damaging	Het
Zfp93	T	A	7: 24,275,731	C380*	probably null	Het
Zfp960	T	A	17: 17,088,256	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,464,793	V430E	probably damaging	Het

Other mutations in Nlrp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Nlrp5	APN	7	23441788	missense	probably damaging	1.00
IGL01393:Nlrp5	APN	7	23404174	missense	probably null	0.04
IGL01505:Nlrp5	APN	7	23417734	missense	probably benign	0.15
IGL02010:Nlrp5	APN	7	23417372	missense	probably benign	0.04
IGL02223:Nlrp5	APN	7	23430022	splice site	probably benign
IGL02341:Nlrp5	APN	7	23404152	missense	probably benign	0.43
IGL02532:Nlrp5	APN	7	23409973	missense	possibly damaging	0.70
IGL02619:Nlrp5	APN	7	23424064	critical splice donor site	probably null
IGL02659:Nlrp5	APN	7	23418581	missense	probably damaging	1.00
IGL02828:Nlrp5	APN	7	23421460	missense	possibly damaging	0.81
IGL03018:Nlrp5	APN	7	23417747	missense	probably benign	0.06
IGL03164:Nlrp5	APN	7	23418373	nonsense	probably null
IGL03397:Nlrp5	APN	7	23413334	missense	probably damaging	1.00
IGL03404:Nlrp5	APN	7	23430034	missense	probably benign	0.00
R0310:Nlrp5	UTSW	7	23430157	missense	probably damaging	0.99
R0549:Nlrp5	UTSW	7	23441802	missense	probably damaging	1.00
R0573:Nlrp5	UTSW	7	23417631	missense	probably damaging	1.00
R0647:Nlrp5	UTSW	7	23417707	missense	probably damaging	1.00
R0675:Nlrp5	UTSW	7	23417417	missense	possibly damaging	0.53
R0826:Nlrp5	UTSW	7	23417708	missense	probably benign	0.13
R1620:Nlrp5	UTSW	7	23418639	missense	probably damaging	1.00
R1858:Nlrp5	UTSW	7	23418161	missense	probably damaging	0.98
R1867:Nlrp5	UTSW	7	23423982	missense	possibly damaging	0.85
R1887:Nlrp5	UTSW	7	23417484	missense	probably damaging	1.00
R1899:Nlrp5	UTSW	7	23404797	missense	probably benign	0.00
R1901:Nlrp5	UTSW	7	23423910	missense	possibly damaging	0.94
R2032:Nlrp5	UTSW	7	23421512	missense	probably damaging	1.00
R3083:Nlrp5	UTSW	7	23430163	missense	probably benign	0.03
R3806:Nlrp5	UTSW	7	23404846	missense	probably benign
R3907:Nlrp5	UTSW	7	23433646	missense	possibly damaging	0.48
R4085:Nlrp5	UTSW	7	23430098	missense	probably damaging	0.97
R4135:Nlrp5	UTSW	7	23418398	missense	possibly damaging	0.92
R4609:Nlrp5	UTSW	7	23417748	missense	probably benign	0.01
R4649:Nlrp5	UTSW	7	23418178	missense	probably damaging	1.00
R4780:Nlrp5	UTSW	7	23435778	missense	probably damaging	1.00
R4793:Nlrp5	UTSW	7	23417630	missense	probably damaging	0.97
R5062:Nlrp5	UTSW	7	23435910	nonsense	probably null
R5224:Nlrp5	UTSW	7	23417976	missense	probably damaging	1.00
R5364:Nlrp5	UTSW	7	23418328	nonsense	probably null
R5426:Nlrp5	UTSW	7	23418201	missense	probably damaging	1.00
R5488:Nlrp5	UTSW	7	23417934	missense	probably benign	0.03
R5762:Nlrp5	UTSW	7	23418839	missense	possibly damaging	0.89
R6014:Nlrp5	UTSW	7	23409947	missense	probably benign	0.02
R6130:Nlrp5	UTSW	7	23404173	missense	probably benign	0.00
R6277:Nlrp5	UTSW	7	23421455	missense	probably damaging	1.00
R6509:Nlrp5	UTSW	7	23417916	missense	probably damaging	1.00
R6519:Nlrp5	UTSW	7	23417918	missense	probably benign	0.22
R7042:Nlrp5	UTSW	7	23417480	missense	possibly damaging	0.52
R7253:Nlrp5	UTSW	7	23417391	missense	possibly damaging	0.93
R7336:Nlrp5	UTSW	7	23417634	missense	probably damaging	0.98
R7371:Nlrp5	UTSW	7	23418423	missense	probably damaging	0.99
R7449:Nlrp5	UTSW	7	23417526	missense	probably benign	0.00
R7505:Nlrp5	UTSW	7	23407500	missense	probably benign	0.01
R7580:Nlrp5	UTSW	7	23433749	missense	probably damaging	1.00
R7588:Nlrp5	UTSW	7	23408151	missense	probably benign	0.21
R7793:Nlrp5	UTSW	7	23423918	missense	possibly damaging	0.87
R7795:Nlrp5	UTSW	7	23418794	missense	possibly damaging	0.78
R7893:Nlrp5	UTSW	7	23418165	missense	probably benign	0.12
R8071:Nlrp5	UTSW	7	23418444	missense	probably damaging	1.00
R8170:Nlrp5	UTSW	7	23433710	missense	probably benign	0.17
R8195:Nlrp5	UTSW	7	23413337	missense	probably benign	0.00
R8212:Nlrp5	UTSW	7	23417337	missense	probably benign	0.02
R8232:Nlrp5	UTSW	7	23417345	missense	probably benign	0.00
R8743:Nlrp5	UTSW	7	23418747	missense	probably benign	0.28
R8853:Nlrp5	UTSW	7	23418300	missense	possibly damaging	0.94
R9030:Nlrp5	UTSW	7	23430148	missense	possibly damaging	0.65
R9225:Nlrp5	UTSW	7	23417946	missense	probably benign	0.24
R9463:Nlrp5	UTSW	7	23418800	missense	probably benign	0.24
R9615:Nlrp5	UTSW	7	23408136	missense	probably benign	0.10
R9647:Nlrp5	UTSW	7	23408151	missense	probably benign	0.12
R9664:Nlrp5	UTSW	7	23418861	missense	probably benign	0.01
R9744:Nlrp5	UTSW	7	23421477	missense	possibly damaging	0.80
RF007:Nlrp5	UTSW	7	23418161	missense	probably benign	0.16
U24488:Nlrp5	UTSW	7	23418228	missense	possibly damaging	0.94
X0026:Nlrp5	UTSW	7	23417498	nonsense	probably null
X0062:Nlrp5	UTSW	7	23417990	nonsense	probably null
Z1088:Nlrp5	UTSW	7	23404167	missense	possibly damaging	0.82
Z1088:Nlrp5	UTSW	7	23417586	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAAGCAGAGGACATGCTTCTAC -3'
(R):5'- AGCCACATGGCTCTGTCTGTGATG -3'

Sequencing Primer
(F):5'- tgtcctgatcttgcacagatag -3'
(R):5'- GTTCATCCCCATGACTCACAGG -3'

Posted On

2014-04-13