Mutagenetix > Incidental Mutation

Incidental Mutation 'R7449:Nlrp5'

577557

Institutional Source

Beutler Lab

Gene Symbol

Nlrp5

Ensembl Gene

ENSMUSG00000015721

Gene Name

NLR family, pyrin domain containing 5

Synonyms

Mater, Nalp5, Op1

MMRRC Submission

045524-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R7449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23385889-23441922 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 23417526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 225 (F225C)

Ref Sequence

ENSEMBL: ENSMUSP00000015866 (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: F225C

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

SMART Domains

Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: F225C

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: F209C

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

SMART Domains

Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: F209C

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: F225C

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: F225C

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: F225C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: F225C

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: F225C

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

SMART Domains

Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: F225C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,435,908	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,499,073	V3116D	probably damaging	Het
Adssl1	A	T	12: 112,634,151	T185S	probably damaging	Het
Ago2	G	A	15: 73,146,499	P30L	probably damaging	Het
Atp5j	C	T	16: 84,831,363	V44M	probably benign	Het
Atp7b	T	A	8: 22,011,849	I833F	probably damaging	Het
Birc6	T	A	17: 74,702,341	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,602,349	D1796N		Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cnga1	A	G	5: 72,605,304	I289T	probably benign	Het
Crybg1	C	A	10: 44,004,519	E224D	probably benign	Het
Dysf	T	C	6: 84,137,380	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,410,020	N339K	probably damaging	Het
Eva1c	T	C	16: 90,876,193		probably null	Het
Fam172a	A	G	13: 77,759,442	I41V	probably damaging	Het
Fam184a	T	C	10: 53,698,634	E293G	probably damaging	Het
Folh1	G	A	7: 86,731,748	P506S	probably benign	Het
Ftcd	A	T	10: 76,580,163	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494	V6D	possibly damaging	Het
Ghitm	C	A	14: 37,131,581	G101C	probably damaging	Het
Gimap5	T	A	6: 48,752,904	V136D	probably damaging	Het
Gm9745	T	A	13: 8,943,304	H51L	probably damaging	Het
Grm4	C	T	17: 27,435,371	G535D	probably damaging	Het
Gse1	T	C	8: 120,229,711	S314P	unknown	Het
Hnrnpdl	A	G	5: 100,037,155	I279T	probably damaging	Het
Itpr1	T	C	6: 108,389,384	S923P	probably damaging	Het
Krt39	C	A	11: 99,518,061	C303F	probably benign	Het
Lrrn1	T	C	6: 107,568,521	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,453,488	R277W	probably damaging	Het
Ltb4r1	T	C	14: 55,767,918	L226P	probably damaging	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,507,285	L125P	probably damaging	Het
Nid1	T	G	13: 13,482,051	V589G	probably damaging	Het
Notch3	C	T	17: 32,157,966	A322T	probably damaging	Het
Olfr299	A	G	7: 86,465,855	H148R	probably benign	Het
Olfr69	G	T	7: 103,767,819	Q193K	probably benign	Het
Olfr854	T	A	9: 19,566,866	T173S	probably benign	Het
Otogl	A	G	10: 107,803,663	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,553,597	D92V	probably benign	Het
Pigt	T	C	2: 164,502,499	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,566,222	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,079,552	F1344L	probably benign	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Pus1	A	G	5: 110,774,586	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,881,032	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Raver2	T	A	4: 101,102,663	H113Q	probably damaging	Het
Recql4	T	C	15: 76,705,565	D760G	unknown	Het
Rhobtb3	C	T	13: 75,910,741	V313M	probably benign	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rnf185	T	C	11: 3,426,578	Q135R	probably benign	Het
Sema3f	T	C	9: 107,684,036	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,652	T904S	probably benign	Het
Slc4a10	T	C	2: 62,303,946	V1002A	probably benign	Het
Taf1b	T	C	12: 24,504,993	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tenm4	A	T	7: 96,874,213	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,704,838	V357M	probably damaging	Het
Tnxb	C	T	17: 34,703,361	P2383S	possibly damaging	Het
Trpm1	A	T	7: 64,208,975	M382L	probably benign	Het
Trrap	A	G	5: 144,851,209	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,885,233	Y494*	probably null	Het
Ubr2	C	T	17: 46,964,788	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,244,543	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,459,895	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,379,145	D364N	probably benign	Het
Vps45	C	A	3: 96,047,136		probably null	Het
Wdr25	A	C	12: 109,026,441	H426P	probably damaging	Het
Wdr83	A	T	8: 85,079,681	W136R	probably damaging	Het
Xylt1	A	C	7: 117,592,005	I343L	possibly damaging	Het
Znrd1as	A	G	17: 36,964,383	D16G	probably damaging	Het
Zscan4b	T	C	7: 10,904,058	Q53R	possibly 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
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
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'- ACTACAAGGCCCATGTGATTG -3'
(R):5'- TCATCATGTTGGAGGACAGAGTC -3'

Sequencing Primer
(F):5'- GTGTGGATCTACACTATGACAGCC -3'
(R):5'- GTCCATATCATCCAAGCCATCTATG -3'

Posted On

2019-10-07