Mutagenetix > Incidental Mutation

Incidental Mutation 'R1899:Nlrp5'

214086

Institutional Source

Beutler Lab

Gene Symbol

Nlrp5

Ensembl Gene

ENSMUSG00000015721

Gene Name

NLR family, pyrin domain containing 5

Synonyms

Mater, Nalp5, Op1

MMRRC Submission

039919-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R1899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23385889-23441922 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23404797 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 28 (T28A)

Ref Sequence

ENSEMBL: ENSMUSP00000118638 (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: T28A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: T28A

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: T28A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: T28A

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: T28A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: T28A

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: T28A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: T28A

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: T28A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: T28A

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: ENSMUST00000180171

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

94% (94/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,258,342	W378R	probably benign	Het
4930522L14Rik	T	A	5: 109,736,798	Q398L	probably benign	Het
4930596D02Rik	T	G	14: 35,810,132	K162T	probably damaging	Het
Abca8b	G	T	11: 109,937,918	T1353K	possibly damaging	Het
Abcg3	A	C	5: 104,938,199	C565G	probably damaging	Het
Actr3b	G	A	5: 25,829,538	V185I	possibly damaging	Het
Akap6	A	T	12: 53,141,852	E2016D	possibly damaging	Het
Aldh3b2	T	C	19: 3,978,662	V148A	possibly damaging	Het
Ankfy1	C	T	11: 72,754,407	Q771*	probably null	Het
Anks1b	A	G	10: 90,260,756	D425G	probably damaging	Het
Arrb1	T	C	7: 99,582,297		probably benign	Het
Atg2a	C	A	19: 6,245,067	T170N	probably damaging	Het
Atp8b5	C	T	4: 43,361,804	R617C	possibly damaging	Het
Bicra	T	C	7: 15,987,751	T614A	possibly damaging	Het
Cacna1i	A	G	15: 80,391,642	D167G	possibly damaging	Het
Calr4	T	G	4: 109,246,293		probably null	Het
Camsap3	G	T	8: 3,603,922	E515*	probably null	Het
Casp8ap2	T	C	4: 32,643,647	S907P	probably damaging	Het
Cdk19	T	A	10: 40,479,780		probably benign	Het
Chst14	A	G	2: 118,927,015	M122V	possibly damaging	Het
Cntn4	A	G	6: 106,675,813	M748V	probably benign	Het
Col7a1	A	G	9: 108,978,888	D2552G	unknown	Het
Cpeb2	C	A	5: 43,277,587	P600Q	probably damaging	Het
Cyp2a5	C	T	7: 26,839,033	R274*	probably null	Het
Dexi	A	G	16: 10,542,518	F58S	probably damaging	Het
Dlg5	C	A	14: 24,148,300	G1522W	probably damaging	Het
Dock2	T	C	11: 34,294,286	H1048R	probably benign	Het
Dpp4	T	C	2: 62,345,050		probably benign	Het
Dusp10	A	T	1: 184,069,180	K381N	possibly damaging	Het
Ercc4	A	G	16: 13,147,787	E761G	probably damaging	Het
Ern2	T	C	7: 122,183,842		probably benign	Het
Fam83f	A	T	15: 80,692,080	T311S	probably damaging	Het
Fat2	T	C	11: 55,262,178	D3736G	probably benign	Het
Fgf11	G	T	11: 69,801,453	T58K	probably benign	Het
Galntl5	C	G	5: 25,198,532	S167*	probably null	Het
Glg1	T	G	8: 111,165,674	E846D	probably benign	Het
Grm8	C	A	6: 28,125,895	E77D	probably damaging	Het
Hmcn1	A	T	1: 150,657,451	D3028E	probably damaging	Het
Htt	A	G	5: 34,907,085	I2943V	probably benign	Het
Ift80	T	C	3: 68,918,513	K498R	probably benign	Het
Ipo9	A	T	1: 135,400,146	M509K	probably damaging	Het
Kcnj3	T	C	2: 55,437,244	V15A	probably damaging	Het
Kcnn3	A	T	3: 89,520,455		probably benign	Het
Larp1b	T	A	3: 40,964,084	D53E	probably benign	Het
Ltf	T	C	9: 111,022,845	F117L	possibly damaging	Het
Maml1	A	G	11: 50,266,130	L406P	probably damaging	Het
Mnx1	G	A	5: 29,473,957	A376V	unknown	Het
Mroh2a	G	A	1: 88,235,376	R376H	probably benign	Het
Mrpl4	A	G	9: 21,006,831	Y111C	probably damaging	Het
Mto1	T	C	9: 78,461,517		probably benign	Het
Nalcn	A	T	14: 123,316,126	M972K	possibly damaging	Het
Nemf	T	C	12: 69,346,378	I225V	probably null	Het
Nipal4	T	G	11: 46,150,231	D379A	probably damaging	Het
Nktr	A	G	9: 121,748,866		probably benign	Het
Nxph1	T	A	6: 9,247,622	Y198N	probably damaging	Het
Olfr1037	A	T	2: 86,085,720	V19D	probably benign	Het
Olfr1230	T	C	2: 89,296,670	N200S	probably damaging	Het
Olfr1436	T	C	19: 12,298,343	Y263C	probably damaging	Het
P2rx7	A	G	5: 122,673,736	Y370C	probably benign	Het
Piezo1	T	C	8: 122,482,645		probably benign	Het
Piezo1	T	C	8: 122,489,566	D1401G	probably damaging	Het
Plxnd1	A	G	6: 115,969,363	L879P	probably benign	Het
Polr2a	A	T	11: 69,743,946	I636N	probably damaging	Het
Prex2	G	T	1: 11,162,366	E886*	probably null	Het
Proca1	A	T	11: 78,205,021	I73F	probably damaging	Het
Prss55	A	T	14: 64,079,390	V101E	probably benign	Het
Psg26	T	A	7: 18,478,425	H335L	probably benign	Het
Rai1	A	G	11: 60,185,920	E270G	probably benign	Het
Reep1	A	G	6: 71,780,797	N127D	probably benign	Het
Rims1	G	T	1: 22,428,474	P769Q	probably damaging	Het
Robo4	A	T	9: 37,404,070		probably benign	Het
Ryr2	A	T	13: 11,591,336	D888E	probably benign	Het
Scamp3	A	G	3: 89,180,260	N135D	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sema4f	A	G	6: 82,918,029	M395T	probably benign	Het
Sgip1	T	C	4: 102,968,337		probably null	Het
Sik2	A	T	9: 50,995,674		probably benign	Het
Smtn	G	T	11: 3,531,326	A223D	possibly damaging	Het
Spen	T	C	4: 141,470,343	T3405A	probably benign	Het
Srebf1	A	G	11: 60,203,486	L601P	probably damaging	Het
Srsf11	A	T	3: 158,031,580		probably benign	Het
Tacc2	T	G	7: 130,624,202	S891R	possibly damaging	Het
Tbc1d17	T	A	7: 44,841,633		probably benign	Het
Tgfbr3l	C	A	8: 4,249,600	R128S	probably damaging	Het
Thsd1	G	A	8: 22,252,318		probably benign	Het
Tlx3	T	C	11: 33,203,072	S130G	probably benign	Het
Tmem25	A	T	9: 44,798,216		probably null	Het
Trak2	A	T	1: 58,946,336	M1K	probably null	Het
Trappc12	C	T	12: 28,746,985	E183K	probably damaging	Het
Ubl3	A	G	5: 148,509,280	V71A	possibly damaging	Het
Unc50	A	G	1: 37,438,799	Y254C	probably damaging	Het
Unkl	T	C	17: 25,229,460		probably null	Het
Uso1	T	A	5: 92,201,192	S819T	probably benign	Het
Yes1	A	T	5: 32,645,051	R103S	probably damaging	Het
Zfp131	A	G	13: 119,767,025	V396A	probably damaging	Het
Zfp553	T	C	7: 127,235,654	I127T	possibly damaging	Het
Zfp599	A	T	9: 22,251,549	N102K	probably benign	Het
Zmynd10	A	T	9: 107,550,037	Q288L	probably benign	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
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
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'- GTGAGGCAAAGGACCCTAAC -3'
(R):5'- TCGACCCTGTAAAAGTATTCGTG -3'

Sequencing Primer
(F):5'- GGACCCTAACATCACAGACTACATGG -3'
(R):5'- TGGGTGCTGGTAACCAAACTC -3'

Posted On

2014-07-14