Mutagenetix > Incidental Mutation

Incidental Mutation 'R6509:Nlrp5'

519864

Institutional Source

Beutler Lab

Gene Symbol

Nlrp5

Ensembl Gene

ENSMUSG00000015721

Gene Name

NLR family, pyrin domain containing 5

Synonyms

Mater, Op1, Nalp5

MMRRC Submission

044422-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R6509 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23085314-23141347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23117341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 355 (N355I)

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 damaging
Transcript: ENSMUST00000015866
AA Change: N355I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: N355I

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 damaging
Transcript: ENSMUST00000086341
AA Change: N339I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: N339I

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

possibly damaging
Transcript: ENSMUST00000108441
AA Change: N355I

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: N355I

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: N355I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: N355I

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 damaging
Transcript: ENSMUST00000139661
AA Change: N355I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: N355I

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: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.9%

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,250 (GRCm39)	R203*	probably null	Het
Ccnc	A	G	4: 21,740,642 (GRCm39)	N133D	probably benign	Het
Cfap299	C	T	5: 98,477,256 (GRCm39)	T15I	probably benign	Het
Lbhd2	A	G	12: 111,376,747 (GRCm39)	R65G	possibly damaging	Het
Lrrc37a	A	G	11: 103,395,240 (GRCm39)	S62P	probably benign	Het
Map3k1	T	A	13: 111,890,363 (GRCm39)	M1279L	possibly damaging	Het
Ncapg2	G	A	12: 116,391,376 (GRCm39)	R475Q	probably damaging	Het
Or7g29	A	G	9: 19,286,439 (GRCm39)	V246A	probably benign	Het
Pdzd8	A	G	19: 59,333,298 (GRCm39)	F241S	probably benign	Het
Rgl3	A	G	9: 21,883,204 (GRCm39)	S705P	probably benign	Het
Rsbn1	A	G	3: 103,867,348 (GRCm39)	Y563C	probably damaging	Het
Septin9	A	G	11: 117,181,253 (GRCm39)	I18V	probably benign	Het
Sycp2	G	A	2: 178,037,687 (GRCm39)	P153S	probably damaging	Het
Tbc1d4	C	A	14: 101,845,754 (GRCm39)	R48L	possibly damaging	Het
Vmn1r195	G	A	13: 22,463,279 (GRCm39)	G250R	probably benign	Het
Vmn2r66	G	T	7: 84,656,054 (GRCm39)	P321T	probably benign	Het

Other mutations in Nlrp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Nlrp5	APN	7	23,141,213 (GRCm39)	missense	probably damaging	1.00
IGL01393:Nlrp5	APN	7	23,103,599 (GRCm39)	missense	probably null	0.04
IGL01505:Nlrp5	APN	7	23,117,159 (GRCm39)	missense	probably benign	0.15
IGL02010:Nlrp5	APN	7	23,116,797 (GRCm39)	missense	probably benign	0.04
IGL02223:Nlrp5	APN	7	23,129,447 (GRCm39)	splice site	probably benign
IGL02341:Nlrp5	APN	7	23,103,577 (GRCm39)	missense	probably benign	0.43
IGL02532:Nlrp5	APN	7	23,109,398 (GRCm39)	missense	possibly damaging	0.70
IGL02619:Nlrp5	APN	7	23,123,489 (GRCm39)	critical splice donor site	probably null
IGL02659:Nlrp5	APN	7	23,118,006 (GRCm39)	missense	probably damaging	1.00
IGL02828:Nlrp5	APN	7	23,120,885 (GRCm39)	missense	possibly damaging	0.81
IGL03018:Nlrp5	APN	7	23,117,172 (GRCm39)	missense	probably benign	0.06
IGL03164:Nlrp5	APN	7	23,117,798 (GRCm39)	nonsense	probably null
IGL03397:Nlrp5	APN	7	23,112,759 (GRCm39)	missense	probably damaging	1.00
IGL03404:Nlrp5	APN	7	23,129,459 (GRCm39)	missense	probably benign	0.00
R0310:Nlrp5	UTSW	7	23,129,582 (GRCm39)	missense	probably damaging	0.99
R0549:Nlrp5	UTSW	7	23,141,227 (GRCm39)	missense	probably damaging	1.00
R0573:Nlrp5	UTSW	7	23,117,056 (GRCm39)	missense	probably damaging	1.00
R0647:Nlrp5	UTSW	7	23,117,132 (GRCm39)	missense	probably damaging	1.00
R0675:Nlrp5	UTSW	7	23,116,842 (GRCm39)	missense	possibly damaging	0.53
R0826:Nlrp5	UTSW	7	23,117,133 (GRCm39)	missense	probably benign	0.13
R1511:Nlrp5	UTSW	7	23,112,772 (GRCm39)	missense	probably damaging	0.99
R1620:Nlrp5	UTSW	7	23,118,064 (GRCm39)	missense	probably damaging	1.00
R1858:Nlrp5	UTSW	7	23,117,586 (GRCm39)	missense	probably damaging	0.98
R1867:Nlrp5	UTSW	7	23,123,407 (GRCm39)	missense	possibly damaging	0.85
R1887:Nlrp5	UTSW	7	23,116,909 (GRCm39)	missense	probably damaging	1.00
R1899:Nlrp5	UTSW	7	23,104,222 (GRCm39)	missense	probably benign	0.00
R1901:Nlrp5	UTSW	7	23,123,335 (GRCm39)	missense	possibly damaging	0.94
R2032:Nlrp5	UTSW	7	23,120,937 (GRCm39)	missense	probably damaging	1.00
R3083:Nlrp5	UTSW	7	23,129,588 (GRCm39)	missense	probably benign	0.03
R3806:Nlrp5	UTSW	7	23,104,271 (GRCm39)	missense	probably benign
R3907:Nlrp5	UTSW	7	23,133,071 (GRCm39)	missense	possibly damaging	0.48
R4085:Nlrp5	UTSW	7	23,129,523 (GRCm39)	missense	probably damaging	0.97
R4135:Nlrp5	UTSW	7	23,117,823 (GRCm39)	missense	possibly damaging	0.92
R4609:Nlrp5	UTSW	7	23,117,173 (GRCm39)	missense	probably benign	0.01
R4649:Nlrp5	UTSW	7	23,117,603 (GRCm39)	missense	probably damaging	1.00
R4780:Nlrp5	UTSW	7	23,135,203 (GRCm39)	missense	probably damaging	1.00
R4793:Nlrp5	UTSW	7	23,117,055 (GRCm39)	missense	probably damaging	0.97
R5062:Nlrp5	UTSW	7	23,135,335 (GRCm39)	nonsense	probably null
R5224:Nlrp5	UTSW	7	23,117,401 (GRCm39)	missense	probably damaging	1.00
R5364:Nlrp5	UTSW	7	23,117,753 (GRCm39)	nonsense	probably null
R5426:Nlrp5	UTSW	7	23,117,626 (GRCm39)	missense	probably damaging	1.00
R5488:Nlrp5	UTSW	7	23,117,359 (GRCm39)	missense	probably benign	0.03
R5762:Nlrp5	UTSW	7	23,118,264 (GRCm39)	missense	possibly damaging	0.89
R6014:Nlrp5	UTSW	7	23,109,372 (GRCm39)	missense	probably benign	0.02
R6130:Nlrp5	UTSW	7	23,103,598 (GRCm39)	missense	probably benign	0.00
R6277:Nlrp5	UTSW	7	23,120,880 (GRCm39)	missense	probably damaging	1.00
R6519:Nlrp5	UTSW	7	23,117,343 (GRCm39)	missense	probably benign	0.22
R7042:Nlrp5	UTSW	7	23,116,905 (GRCm39)	missense	possibly damaging	0.52
R7253:Nlrp5	UTSW	7	23,116,816 (GRCm39)	missense	possibly damaging	0.93
R7336:Nlrp5	UTSW	7	23,117,059 (GRCm39)	missense	probably damaging	0.98
R7371:Nlrp5	UTSW	7	23,117,848 (GRCm39)	missense	probably damaging	0.99
R7449:Nlrp5	UTSW	7	23,116,951 (GRCm39)	missense	probably benign	0.00
R7505:Nlrp5	UTSW	7	23,106,925 (GRCm39)	missense	probably benign	0.01
R7580:Nlrp5	UTSW	7	23,133,174 (GRCm39)	missense	probably damaging	1.00
R7588:Nlrp5	UTSW	7	23,107,576 (GRCm39)	missense	probably benign	0.21
R7793:Nlrp5	UTSW	7	23,123,343 (GRCm39)	missense	possibly damaging	0.87
R7795:Nlrp5	UTSW	7	23,118,219 (GRCm39)	missense	possibly damaging	0.78
R7893:Nlrp5	UTSW	7	23,117,590 (GRCm39)	missense	probably benign	0.12
R8071:Nlrp5	UTSW	7	23,117,869 (GRCm39)	missense	probably damaging	1.00
R8170:Nlrp5	UTSW	7	23,133,135 (GRCm39)	missense	probably benign	0.17
R8195:Nlrp5	UTSW	7	23,112,762 (GRCm39)	missense	probably benign	0.00
R8212:Nlrp5	UTSW	7	23,116,762 (GRCm39)	missense	probably benign	0.02
R8232:Nlrp5	UTSW	7	23,116,770 (GRCm39)	missense	probably benign	0.00
R8743:Nlrp5	UTSW	7	23,118,172 (GRCm39)	missense	probably benign	0.28
R8853:Nlrp5	UTSW	7	23,117,725 (GRCm39)	missense	possibly damaging	0.94
R9030:Nlrp5	UTSW	7	23,129,573 (GRCm39)	missense	possibly damaging	0.65
R9225:Nlrp5	UTSW	7	23,117,371 (GRCm39)	missense	probably benign	0.24
R9463:Nlrp5	UTSW	7	23,118,225 (GRCm39)	missense	probably benign	0.24
R9615:Nlrp5	UTSW	7	23,107,561 (GRCm39)	missense	probably benign	0.10
R9647:Nlrp5	UTSW	7	23,107,576 (GRCm39)	missense	probably benign	0.12
R9664:Nlrp5	UTSW	7	23,118,286 (GRCm39)	missense	probably benign	0.01
R9744:Nlrp5	UTSW	7	23,120,902 (GRCm39)	missense	possibly damaging	0.80
RF007:Nlrp5	UTSW	7	23,117,586 (GRCm39)	missense	probably benign	0.16
U24488:Nlrp5	UTSW	7	23,117,653 (GRCm39)	missense	possibly damaging	0.94
X0026:Nlrp5	UTSW	7	23,116,923 (GRCm39)	nonsense	probably null
X0062:Nlrp5	UTSW	7	23,117,415 (GRCm39)	nonsense	probably null
Z1088:Nlrp5	UTSW	7	23,117,011 (GRCm39)	missense	probably damaging	1.00
Z1088:Nlrp5	UTSW	7	23,103,592 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TGTCCTCCAACATGATGATATGAC -3'
(R):5'- ACAAACCGGTGAGAGTCTGG -3'

Sequencing Primer
(F):5'- GATGATATGACACTATCCAGAGACTG -3'
(R):5'- GCAGGGTAGGGTGCATCTC -3'

Posted On

2018-06-06