Mutagenetix > Incidental Mutation

Incidental Mutation 'R6814:Nlrp2'

534008

Institutional Source

Beutler Lab

Gene Symbol

Nlrp2

Ensembl Gene

ENSMUSG00000035177

Gene Name

NLR family, pyrin domain containing 2

Synonyms

Nbs1, Pan1, PYPAF2, E330007A02Rik, Nalp2

MMRRC Submission

044926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5298547-5351035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5308710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 922 (R922H)

Ref Sequence

ENSEMBL: ENSMUSP00000045077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045022] [ENSMUST00000207520] [ENSMUST00000207685]

AlphaFold

Q4PLS0

Predicted Effect

probably benign
Transcript: ENSMUST00000045022
AA Change: R922H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: R922H

Domain	Start	End	E-Value	Type
PYRIN	7	90	2.88e-17	SMART
Pfam:NACHT	180	348	6.9e-30	PFAM
internal_repeat_1	676	722	1.74e-5	PROSPERO
LRR	796	823	1.26e1	SMART
LRR	825	852	1.18e1	SMART
LRR	853	880	5.81e-2	SMART
LRR	882	909	3.39e-3	SMART
LRR	910	937	5.06e-2	SMART
LRR	939	966	5.23e0	SMART
LRR	967	994	3.58e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207520
AA Change: R127H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207685
AA Change: R57H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,623,180 (GRCm38)	V336I	probably benign	Het
Abca7	G	A	10: 80,002,999 (GRCm38)	V669I	probably damaging	Het
Abcg3	T	C	5: 104,935,994 (GRCm38)	T637A	probably benign	Het
Afap1l1	A	T	18: 61,733,741 (GRCm38)	V749E	probably benign	Het
Arfgef3	A	G	10: 18,595,019 (GRCm38)	L1666S	probably damaging	Het
Atp2b1	A	G	10: 99,023,015 (GRCm38)	N284D	possibly damaging	Het
Ccdc24	T	C	4: 117,869,926 (GRCm38)	T196A	probably benign	Het
Cdc20b	G	A	13: 113,083,975 (GRCm38)	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,752,287 (GRCm38)	R570*	probably null	Het
Cit	G	A	5: 115,884,963 (GRCm38)	C283Y	probably damaging	Het
Cpa5	A	T	6: 30,614,054 (GRCm38)	Q65L	probably benign	Het
Cspg4	A	G	9: 56,890,340 (GRCm38)	I1363V	possibly damaging	Het
D2hgdh	C	A	1: 93,835,303 (GRCm38)	T270N	possibly damaging	Het
Dnah8	G	T	17: 30,762,679 (GRCm38)	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,223,040 (GRCm38)	N186S	probably damaging	Het
Dock4	T	C	12: 40,812,326 (GRCm38)		probably null	Het
Ear6	A	G	14: 51,854,428 (GRCm38)	Y144C	probably damaging	Het
Fam53a	T	C	5: 33,610,485 (GRCm38)	Y27C	probably benign	Het
Fgf2	A	G	3: 37,404,711 (GRCm38)	K85E	probably damaging	Het
Fubp1	A	T	3: 152,226,146 (GRCm38)	Q37L	probably benign	Het
Gabra2	G	T	5: 71,094,539 (GRCm38)	P22T	probably damaging	Het
Gm10401	T	C	5: 115,098,186 (GRCm38)		probably benign	Het
Gm436	A	T	4: 144,670,646 (GRCm38)	L172*	probably null	Het
Gm6657	T	A	12: 78,197,367 (GRCm38)	D31E	probably damaging	Het
Iglv3	A	G	16: 19,241,284 (GRCm38)	I98T	probably damaging	Het
Nr1h4	T	C	10: 89,454,745 (GRCm38)	T474A	probably damaging	Het
Pcdhb20	A	C	18: 37,506,165 (GRCm38)	E581D	probably benign	Het
Pidd1	G	T	7: 141,439,418 (GRCm38)	T750K	probably benign	Het
Pigq	A	T	17: 25,931,656 (GRCm38)		probably benign	Het
Rab44	A	G	17: 29,139,810 (GRCm38)	E324G	probably benign	Het
Slc17a2	T	C	13: 23,822,389 (GRCm38)	I466T	possibly damaging	Het
Slc24a3	C	T	2: 145,616,710 (GRCm38)	Q537*	probably null	Het
Slc7a10	T	C	7: 35,195,264 (GRCm38)	V116A	probably damaging	Het
Taf15	T	A	11: 83,499,089 (GRCm38)	N228K	probably damaging	Het
Tbx19	A	T	1: 165,147,633 (GRCm38)		probably null	Het
Tgoln1	A	G	6: 72,615,555 (GRCm38)	V314A	possibly damaging	Het
Them4	A	T	3: 94,324,371 (GRCm38)	I172F	probably damaging	Het
Tmc7	T	A	7: 118,547,623 (GRCm38)	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,863,305 (GRCm38)	L421P	probably damaging	Het
Vamp5	G	A	6: 72,380,441 (GRCm38)		probably benign	Het
Vmn2r11	T	G	5: 109,047,110 (GRCm38)	R783S	possibly damaging	Het
Zfp180	G	T	7: 24,105,881 (GRCm38)	C575F	probably damaging	Het
Zfp189	A	T	4: 49,529,026 (GRCm38)	N43I	probably damaging	Het
Zfp36l2	A	G	17: 84,186,093 (GRCm38)		probably benign	Het
Zfp592	T	C	7: 81,023,828 (GRCm38)	V180A	probably benign	Het
Zfp605	C	T	5: 110,127,445 (GRCm38)	P143L	probably benign	Het
Zfp646	T	C	7: 127,883,333 (GRCm38)	S1561P	probably benign	Het

Other mutations in Nlrp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Nlrp2	APN	7	5,337,548 (GRCm38)	missense	probably benign	0.00
IGL00545:Nlrp2	APN	7	5,328,252 (GRCm38)	missense	possibly damaging	0.89
IGL01311:Nlrp2	APN	7	5,319,239 (GRCm38)	missense	possibly damaging	0.92
IGL01345:Nlrp2	APN	7	5,317,492 (GRCm38)	missense	probably benign	0.16
IGL01583:Nlrp2	APN	7	5,337,770 (GRCm38)	missense	probably damaging	1.00
IGL01659:Nlrp2	APN	7	5,328,035 (GRCm38)	missense	probably damaging	1.00
IGL02240:Nlrp2	APN	7	5,327,823 (GRCm38)	missense	probably damaging	1.00
IGL02353:Nlrp2	APN	7	5,337,599 (GRCm38)	missense	probably damaging	1.00
IGL02360:Nlrp2	APN	7	5,337,599 (GRCm38)	missense	probably damaging	1.00
IGL02399:Nlrp2	APN	7	5,328,810 (GRCm38)	missense	probably damaging	1.00
IGL02441:Nlrp2	APN	7	5,335,567 (GRCm38)	critical splice donor site	probably null
IGL02588:Nlrp2	APN	7	5,327,552 (GRCm38)	nonsense	probably null
IGL02803:Nlrp2	APN	7	5,328,318 (GRCm38)	missense	probably damaging	1.00
IGL02968:Nlrp2	APN	7	5,301,025 (GRCm38)	missense	possibly damaging	0.81
IGL03342:Nlrp2	APN	7	5,317,483 (GRCm38)	missense	probably damaging	1.00
BB006:Nlrp2	UTSW	7	5,327,499 (GRCm38)	missense	probably damaging	1.00
BB016:Nlrp2	UTSW	7	5,327,499 (GRCm38)	missense	probably damaging	1.00
R0027:Nlrp2	UTSW	7	5,322,448 (GRCm38)	missense	probably damaging	1.00
R0051:Nlrp2	UTSW	7	5,322,334 (GRCm38)	unclassified	probably benign
R0079:Nlrp2	UTSW	7	5,327,730 (GRCm38)	missense	possibly damaging	0.81
R0130:Nlrp2	UTSW	7	5,322,418 (GRCm38)	missense	possibly damaging	0.77
R0157:Nlrp2	UTSW	7	5,308,770 (GRCm38)	missense	possibly damaging	0.88
R0201:Nlrp2	UTSW	7	5,328,329 (GRCm38)	missense	probably benign	0.00
R0276:Nlrp2	UTSW	7	5,328,109 (GRCm38)	missense	probably benign	0.00
R0288:Nlrp2	UTSW	7	5,328,545 (GRCm38)	missense	probably benign	0.19
R0332:Nlrp2	UTSW	7	5,317,630 (GRCm38)	missense	probably damaging	1.00
R0724:Nlrp2	UTSW	7	5,319,222 (GRCm38)	missense	probably damaging	1.00
R1241:Nlrp2	UTSW	7	5,328,431 (GRCm38)	missense	probably damaging	1.00
R1355:Nlrp2	UTSW	7	5,327,491 (GRCm38)	missense	possibly damaging	0.81
R1392:Nlrp2	UTSW	7	5,329,015 (GRCm38)	splice site	probably benign
R1470:Nlrp2	UTSW	7	5,300,951 (GRCm38)	missense	probably benign	0.18
R1470:Nlrp2	UTSW	7	5,300,951 (GRCm38)	missense	probably benign	0.18
R1563:Nlrp2	UTSW	7	5,308,725 (GRCm38)	missense	probably damaging	1.00
R1866:Nlrp2	UTSW	7	5,327,716 (GRCm38)	nonsense	probably null
R1942:Nlrp2	UTSW	7	5,322,448 (GRCm38)	missense	probably damaging	1.00
R1959:Nlrp2	UTSW	7	5,327,738 (GRCm38)	missense	probably damaging	1.00
R1960:Nlrp2	UTSW	7	5,327,738 (GRCm38)	missense	probably damaging	1.00
R1961:Nlrp2	UTSW	7	5,327,738 (GRCm38)	missense	probably damaging	1.00
R2072:Nlrp2	UTSW	7	5,325,006 (GRCm38)	missense	probably damaging	1.00
R2161:Nlrp2	UTSW	7	5,325,042 (GRCm38)	missense	probably damaging	1.00
R2190:Nlrp2	UTSW	7	5,319,238 (GRCm38)	missense	possibly damaging	0.95
R2243:Nlrp2	UTSW	7	5,335,598 (GRCm38)	missense	probably benign	0.03
R2277:Nlrp2	UTSW	7	5,328,129 (GRCm38)	missense	probably benign
R2334:Nlrp2	UTSW	7	5,337,535 (GRCm38)	missense	probably benign	0.39
R3030:Nlrp2	UTSW	7	5,327,748 (GRCm38)	missense	probably damaging	1.00
R3404:Nlrp2	UTSW	7	5,319,287 (GRCm38)	missense	probably benign	0.01
R3941:Nlrp2	UTSW	7	5,327,552 (GRCm38)	nonsense	probably null
R4021:Nlrp2	UTSW	7	5,325,012 (GRCm38)	missense	probably benign	0.40
R4518:Nlrp2	UTSW	7	5,325,056 (GRCm38)	missense	possibly damaging	0.85
R4666:Nlrp2	UTSW	7	5,319,189 (GRCm38)	missense	probably benign	0.18
R4767:Nlrp2	UTSW	7	5,328,024 (GRCm38)	missense	probably damaging	1.00
R4827:Nlrp2	UTSW	7	5,328,951 (GRCm38)	missense	possibly damaging	0.60
R4873:Nlrp2	UTSW	7	5,298,859 (GRCm38)	missense	probably benign	0.09
R4875:Nlrp2	UTSW	7	5,298,859 (GRCm38)	missense	probably benign	0.09
R5020:Nlrp2	UTSW	7	5,328,077 (GRCm38)	missense	probably damaging	1.00
R5293:Nlrp2	UTSW	7	5,327,615 (GRCm38)	missense	probably damaging	1.00
R5310:Nlrp2	UTSW	7	5,325,008 (GRCm38)	missense	probably benign	0.00
R5336:Nlrp2	UTSW	7	5,328,119 (GRCm38)	missense	probably benign
R5390:Nlrp2	UTSW	7	5,300,909 (GRCm38)	missense	probably benign	0.00
R5864:Nlrp2	UTSW	7	5,322,381 (GRCm38)	missense	probably damaging	1.00
R5913:Nlrp2	UTSW	7	5,324,903 (GRCm38)	splice site	probably null
R6173:Nlrp2	UTSW	7	5,337,809 (GRCm38)	missense	probably damaging	0.96
R6274:Nlrp2	UTSW	7	5,317,555 (GRCm38)	missense	probably damaging	1.00
R6303:Nlrp2	UTSW	7	5,337,761 (GRCm38)	missense	probably damaging	1.00
R6343:Nlrp2	UTSW	7	5,300,926 (GRCm38)	missense	possibly damaging	0.82
R6704:Nlrp2	UTSW	7	5,325,041 (GRCm38)	nonsense	probably null
R6872:Nlrp2	UTSW	7	5,308,710 (GRCm38)	missense	probably benign	0.01
R7023:Nlrp2	UTSW	7	5,328,229 (GRCm38)	nonsense	probably null
R7028:Nlrp2	UTSW	7	5,328,572 (GRCm38)	missense	possibly damaging	0.93
R7109:Nlrp2	UTSW	7	5,328,617 (GRCm38)	missense	probably damaging	1.00
R7203:Nlrp2	UTSW	7	5,317,534 (GRCm38)	missense	probably damaging	1.00
R7322:Nlrp2	UTSW	7	5,308,645 (GRCm38)	missense	possibly damaging	0.94
R7339:Nlrp2	UTSW	7	5,327,628 (GRCm38)	missense	possibly damaging	0.95
R7573:Nlrp2	UTSW	7	5,317,469 (GRCm38)	critical splice donor site	probably null
R7657:Nlrp2	UTSW	7	5,319,168 (GRCm38)	missense	probably benign	0.01
R7929:Nlrp2	UTSW	7	5,327,499 (GRCm38)	missense	probably damaging	1.00
R7964:Nlrp2	UTSW	7	5,328,528 (GRCm38)	missense	probably damaging	1.00
R8097:Nlrp2	UTSW	7	5,327,651 (GRCm38)	missense	probably damaging	1.00
R8276:Nlrp2	UTSW	7	5,317,495 (GRCm38)	missense	probably benign	0.40
R8785:Nlrp2	UTSW	7	5,327,549 (GRCm38)	missense	probably damaging	0.99
R8798:Nlrp2	UTSW	7	5,327,888 (GRCm38)	missense	possibly damaging	0.86
R8982:Nlrp2	UTSW	7	5,324,979 (GRCm38)	missense	probably damaging	1.00
R9030:Nlrp2	UTSW	7	5,322,458 (GRCm38)	missense	probably null	0.00
R9038:Nlrp2	UTSW	7	5,327,479 (GRCm38)	missense	probably benign	0.14
R9149:Nlrp2	UTSW	7	5,327,573 (GRCm38)	missense	probably benign	0.01
R9229:Nlrp2	UTSW	7	5,301,053 (GRCm38)	missense	possibly damaging	0.81
R9584:Nlrp2	UTSW	7	5,319,216 (GRCm38)	missense	probably damaging	1.00
X0027:Nlrp2	UTSW	7	5,327,642 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CAAAACTTGACTCACTTGACTCAG -3'
(R):5'- AAGCTTGACTGAAACCAATGGC -3'

Sequencing Primer
(F):5'- GGACTTCCCCATATTGCTTCTGAAAG -3'
(R):5'- CTTGACTGAAACCAATGGCTTGAG -3'

Posted On

2018-09-12