Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00478:Nlrp5'

5312

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp5

Ensembl Gene

ENSMUSG00000015721

Gene Name

NLR family, pyrin domain containing 5

Synonyms

Mater, Op1, Nalp5

Accession Numbers

Essential gene?

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

Stock #

IGL00478

Quality Score

Status

Chromosome

Chromosomal Location

23085314-23141347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23141213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1078 (D1078V)

Ref Sequence

ENSEMBL: ENSMUSP00000104080 (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: D1104V

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

SMART Domains

Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: D1104V

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: D1088V

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

SMART Domains

Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: D1088V

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 damaging
Transcript: ENSMUST00000108441
AA Change: D1078V

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

SMART Domains

Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: D1078V

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

SMART Domains

Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721

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

SMART Domains

Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721

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: ENSMUST00000207724

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,774,604 (GRCm39)	T578A	possibly damaging	Het
Ablim1	C	T	19: 57,056,618 (GRCm39)	A359T	probably damaging	Het
Akap9	G	A	5: 4,096,639 (GRCm39)	V2505M	probably damaging	Het
Alpk2	A	T	18: 65,440,297 (GRCm39)	C365*	probably null	Het
C920021L13Rik	A	T	3: 95,794,797 (GRCm39)		probably benign	Het
Chd3	A	T	11: 69,247,888 (GRCm39)	V905E	probably damaging	Het
Cntrl	T	C	2: 35,050,613 (GRCm39)	V1529A	probably damaging	Het
Coro2a	T	C	4: 46,540,455 (GRCm39)	D488G	probably benign	Het
Dpf1	G	T	7: 29,015,981 (GRCm39)		probably benign	Het
Fga	T	A	3: 82,935,951 (GRCm39)	D59E	probably benign	Het
Ggh	T	A	4: 20,057,965 (GRCm39)	H175Q	probably benign	Het
Glyat	T	C	19: 12,625,497 (GRCm39)		probably benign	Het
Gpr137c	T	C	14: 45,516,202 (GRCm39)	V312A	probably damaging	Het
Myt1	T	C	2: 181,442,908 (GRCm39)	S466P	probably damaging	Het
Rad17	T	C	13: 100,769,782 (GRCm39)	D259G	probably damaging	Het
Rpp14	G	A	14: 8,083,934 (GRCm38)	G30E	possibly damaging	Het
Uspl1	A	T	5: 149,152,024 (GRCm39)	T1075S	possibly damaging	Het
Vash1	T	A	12: 86,727,042 (GRCm39)	I94N	possibly damaging	Het
Zfp770	T	C	2: 114,027,946 (GRCm39)	E41G	probably damaging	Het

Other mutations in Nlrp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6509:Nlrp5	UTSW	7	23,117,341 (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

Posted On

2012-04-20