Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01505:Nlrp5'

89011

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp5

Ensembl Gene

ENSMUSG00000015721

Gene Name

NLR family, pyrin domain containing 5

Synonyms

Mater, Nalp5, Op1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

IGL01505

Quality Score

Status

Chromosome

Chromosomal Location

23385889-23441922 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23417734 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 294 (D294E)

Ref Sequence

ENSEMBL: ENSMUSP00000122007 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000015866
AA Change: D294E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: D294E

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
AA Change: D278E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: D278E

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: D294E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: D294E

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 benign
Transcript: ENSMUST00000133237
AA Change: D294E

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: D294E

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: D294E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: D294E

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	C	18: 68,947,347		probably null	Het
A2m	A	G	6: 121,676,947	N1413S	possibly damaging	Het
Arhgap45	A	T	10: 80,026,542	N488Y	probably benign	Het
Arid4a	G	A	12: 71,037,115	D94N	probably damaging	Het
Atp7a	A	G	X: 106,109,830	K1114E	probably damaging	Het
Atp8a2	C	T	14: 60,028,063	V275M	probably benign	Het
Ceacam12	T	C	7: 18,067,432	V112A	probably damaging	Het
Cep295	T	A	9: 15,318,049	D2256V	probably benign	Het
Chid1	A	T	7: 141,513,894		probably null	Het
Clcn5	A	T	X: 7,170,439	L268*	probably null	Het
Cldn17	A	G	16: 88,506,703	I46T	possibly damaging	Het
Cnot1	A	T	8: 95,728,718	I2025N	probably damaging	Het
Cntn5	C	T	9: 9,706,087	V574M	probably damaging	Het
Col14a1	T	A	15: 55,455,223	C1373S	unknown	Het
Col9a1	A	G	1: 24,185,124	N129S	unknown	Het
Cp	C	T	3: 19,977,192	P598S	possibly damaging	Het
Cpb1	G	A	3: 20,266,246	R150C	probably damaging	Het
Cyp2j7	T	A	4: 96,227,680		probably null	Het
Dnajb7	T	C	15: 81,407,491	E215G	possibly damaging	Het
Dock1	G	A	7: 135,158,510	R1634Q	possibly damaging	Het
Dopey2	A	G	16: 93,757,116	T313A	possibly damaging	Het
Fgd2	T	A	17: 29,366,997	V185E	probably damaging	Het
Flnb	T	C	14: 7,902,003		probably null	Het
Fzd7	A	G	1: 59,483,903	E315G	probably benign	Het
Gjc1	T	A	11: 102,800,726	K150N	probably benign	Het
Gm436	C	T	4: 144,674,618	V99M	probably damaging	Het
Gpihbp1	C	T	15: 75,598,128		probably benign	Het
Gpr160	T	C	3: 30,895,853	S25P	possibly damaging	Het
Grsf1	G	A	5: 88,672,749	R58*	probably null	Het
Ifit1	T	A	19: 34,648,454	M330K	probably benign	Het
Igkv1-122	T	C	6: 68,017,194	V22A	probably benign	Het
Ikbke	A	T	1: 131,255,311	D692E	probably benign	Het
Il15ra	T	C	2: 11,733,145		probably benign	Het
Il18rap	A	G	1: 40,537,084	I252V	probably damaging	Het
Klra10	C	T	6: 130,272,717	G202R	probably damaging	Het
Kpna7	A	G	5: 144,992,851	V388A	probably damaging	Het
L2hgdh	A	G	12: 69,721,401	S108P	probably damaging	Het
Msto1	G	A	3: 88,910,743	T388M	probably benign	Het
Naip1	T	C	13: 100,425,933	E908G	probably damaging	Het
Neto1	C	A	18: 86,473,689	D238E	possibly damaging	Het
Nr3c2	T	C	8: 76,909,187	S306P	probably damaging	Het
Olfr890	T	A	9: 38,143,871	C240*	probably null	Het
Pard3	T	A	8: 127,324,063	L202H	probably damaging	Het
Pdzd2	T	C	15: 12,458,207	N190S	probably damaging	Het
Pi4ka	T	C	16: 17,309,358	D1077G	probably benign	Het
Pmfbp1	A	C	8: 109,513,911	L208F	probably damaging	Het
Pms1	C	T	1: 53,206,971	D470N	probably benign	Het
Prdm10	T	C	9: 31,327,282	F108L	probably benign	Het
Rab11fip1	A	T	8: 27,154,776	M327K	possibly damaging	Het
Slc37a4	T	A	9: 44,399,964	L184Q	probably damaging	Het
Smdt1	T	C	15: 82,347,893		probably benign	Het
Smg6	A	G	11: 75,156,291	Y1270C	probably damaging	Het
Speer4f2	T	A	5: 17,376,567	V169E	possibly damaging	Het
Stpg2	C	T	3: 139,317,453	A410V	probably benign	Het
Tnrc6b	T	A	15: 80,879,963	D555E	probably benign	Het
Tsg101	A	G	7: 46,909,060	Y46H	probably damaging	Het
Vmn2r111	G	A	17: 22,548,572	S648L	probably benign	Het
Vmn2r73	T	A	7: 85,858,059	R682*	probably null	Het
Xkr5	A	T	8: 18,933,498	I676N	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
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
R1511:Nlrp5	UTSW	7	23413347	missense	probably damaging	0.99
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
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

Posted On

2013-12-03