Mutagenetix > Incidental Mutation

Incidental Mutation 'R1960:Nlrp2'

318032

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

039974-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5298547-5351035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5327738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 553 (E553G)

Ref Sequence

ENSEMBL: ENSMUSP00000045077 (fasta)

Gene Model

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

AlphaFold

Q4PLS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045022
AA Change: E553G

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

SMART Domains

Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: E553G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (95/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	C	T	3: 145,938,221	P55S	probably damaging	Het
Adgre4	T	C	17: 55,791,497	S136P	probably benign	Het
Als2cr12	A	T	1: 58,659,278	V327D	possibly damaging	Het
Arap1	C	A	7: 101,373,015	A8E	probably damaging	Het
Arid1a	A	T	4: 133,753,090	H174Q	possibly damaging	Het
Btbd2	A	G	10: 80,644,705	I358T	probably benign	Het
Camkk2	G	A	5: 122,737,512	R492*	probably null	Het
Capn3	T	C	2: 120,463,940	V23A	probably benign	Het
Carm1	T	G	9: 21,580,310	V225G	probably benign	Het
Ccdc113	T	A	8: 95,540,831	N141K	probably benign	Het
Ccdc60	C	A	5: 116,146,184	M298I	probably benign	Het
Celsr3	C	T	9: 108,845,817	P2801L	probably benign	Het
Clec4n	T	A	6: 123,230,546	V23E	probably damaging	Het
Cmtr2	T	G	8: 110,221,750	L231V	probably damaging	Het
Csrnp3	T	G	2: 66,023,019	V585G	probably null	Het
Ctnnd2	T	C	15: 30,647,111	S318P	probably damaging	Het
Cubn	A	T	2: 13,340,017		probably null	Het
Dgkd	C	A	1: 87,929,827	P754T	possibly damaging	Het
Dnah7a	A	G	1: 53,684,983	S108P	probably benign	Het
Dnajc24	A	G	2: 106,001,923		probably benign	Het
Dner	A	T	1: 84,445,456	S475R	probably damaging	Het
Doxl2	C	T	6: 48,975,753	T204I	probably damaging	Het
Dtnb	T	C	12: 3,781,190	L630P	probably benign	Het
Dysf	T	C	6: 84,073,903	F411L	probably benign	Het
Fam208a	T	C	14: 27,438,664	S128P	probably damaging	Het
Fam208a	C	T	14: 27,479,789	H1419Y	possibly damaging	Het
Fbxo18	G	A	2: 11,757,528	A566V	probably damaging	Het
Fbxw19	G	T	9: 109,485,936	T186K	probably benign	Het
Gm4825	A	G	15: 85,511,044		noncoding transcript	Het
Grhl2	T	A	15: 37,336,314	V54D	probably damaging	Het
Hmcn1	T	C	1: 150,675,991	I2621V	probably benign	Het
Hmcn1	T	A	1: 150,677,376	E2521V	possibly damaging	Het
Kcng1	A	G	2: 168,262,984	V314A	probably benign	Het
Kif13a	G	A	13: 46,864,838		probably benign	Het
Kif21a	G	A	15: 90,970,848	A703V	probably damaging	Het
Kifc1	A	G	17: 33,884,587		probably null	Het
Klk13	T	A	7: 43,721,007	N31K	possibly damaging	Het
Klri1	T	A	6: 129,697,384	H221L	probably benign	Het
Ltbp4	G	A	7: 27,329,018	P273L	unknown	Het
Med16	T	C	10: 79,907,095	H14R	possibly damaging	Het
Mpeg1	G	A	19: 12,462,911	V578M	probably damaging	Het
Mrgpra2a	T	A	7: 47,427,235	I92F	probably benign	Het
Muc5b	T	C	7: 141,862,637	C3107R	possibly damaging	Het
Myo5a	T	A	9: 75,147,857	F441I	probably damaging	Het
Ndst4	T	A	3: 125,438,682	L300*	probably null	Het
Nlgn2	G	T	11: 69,827,310	D356E	probably damaging	Het
Oas1f	G	A	5: 120,856,439	C341Y	possibly damaging	Het
Olfm5	A	T	7: 104,160,412	C111S	possibly damaging	Het
Olfr1176	T	C	2: 88,340,201	L212P	probably damaging	Het
Olfr523	A	T	7: 140,176,683	I188L	probably benign	Het
Olfr697	T	C	7: 106,741,394	E180G	probably damaging	Het
Olfr821	C	T	10: 130,034,318	Q231*	probably null	Het
Olfr876	A	G	9: 37,803,946	I12V	probably benign	Het
Olfr919	T	A	9: 38,698,204	H58L	probably benign	Het
Oplah	G	A	15: 76,297,464	T1119I	probably damaging	Het
Pde10a	T	C	17: 8,942,918	I477T	possibly damaging	Het
Pde4b	A	G	4: 102,597,460	E108G	probably damaging	Het
Pdgfrb	A	T	18: 61,065,783	T338S	probably benign	Het
Pgghg	A	G	7: 140,943,347	M180V	probably benign	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Pot1b	A	T	17: 55,662,531	Y546N	probably damaging	Het
Rangap1	T	C	15: 81,706,503	T463A	probably benign	Het
Rap1gds1	T	C	3: 139,050,556	I13V	probably null	Het
Rbak	A	T	5: 143,174,682	Y205*	probably null	Het
Reg3b	A	T	6: 78,371,814	K31M	probably damaging	Het
Rfpl4	A	T	7: 5,115,534	Y12*	probably null	Het
Rnase6	A	G	14: 51,130,432	N94D	possibly damaging	Het
Rtn4	T	C	11: 29,736,464	L273P	probably damaging	Het
Ryr3	A	C	2: 112,794,467	F2203V	probably damaging	Het
Sae1	A	T	7: 16,368,565	D161E	possibly damaging	Het
Sema5a	T	C	15: 32,562,731	F296S	possibly damaging	Het
Sh3rf1	C	A	8: 61,384,863	P814Q	probably damaging	Het
Slc22a29	C	A	19: 8,169,193	R415M	probably benign	Het
Slc25a25	C	T	2: 32,420,651		probably null	Het
Slco4c1	T	A	1: 96,867,929	M135L	probably benign	Het
Slfn1	A	G	11: 83,121,753	I232V	possibly damaging	Het
Slitrk1	T	A	14: 108,912,190	N363I	probably damaging	Het
Srr	A	G	11: 74,908,716	V311A	probably damaging	Het
Tenm1	T	C	X: 42,827,201	D402G	probably benign	Het
Topors	T	C	4: 40,261,044	R747G	unknown	Het
Trank1	A	T	9: 111,391,628	I2478F	probably damaging	Het
Trim69	A	G	2: 122,167,684	N46D	probably benign	Het
Trpm1	T	A	7: 64,230,230	L661Q	probably damaging	Het
Ttbk1	A	C	17: 46,480,224	F45V	probably damaging	Het
Ttn	T	C	2: 76,814,305	K4708R	probably damaging	Het
Unkl	A	G	17: 25,209,645		probably benign	Het
Uros	A	T	7: 133,687,006	N257K	probably benign	Het
Usp25	A	G	16: 77,076,371	Y439C	probably damaging	Het
Vgf	A	G	5: 137,032,175		probably benign	Het
Vmn2r8	A	T	5: 108,799,286	D533E	probably damaging	Het
Vps13a	A	T	19: 16,725,631	Y653N	probably damaging	Het
Zfp358	T	C	8: 3,495,742	V135A	possibly damaging	Het

Other mutations in Nlrp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Nlrp2	APN	7	5337548	missense	probably benign	0.00
IGL00545:Nlrp2	APN	7	5328252	missense	possibly damaging	0.89
IGL01311:Nlrp2	APN	7	5319239	missense	possibly damaging	0.92
IGL01345:Nlrp2	APN	7	5317492	missense	probably benign	0.16
IGL01583:Nlrp2	APN	7	5337770	missense	probably damaging	1.00
IGL01659:Nlrp2	APN	7	5328035	missense	probably damaging	1.00
IGL02240:Nlrp2	APN	7	5327823	missense	probably damaging	1.00
IGL02353:Nlrp2	APN	7	5337599	missense	probably damaging	1.00
IGL02360:Nlrp2	APN	7	5337599	missense	probably damaging	1.00
IGL02399:Nlrp2	APN	7	5328810	missense	probably damaging	1.00
IGL02441:Nlrp2	APN	7	5335567	critical splice donor site	probably null
IGL02588:Nlrp2	APN	7	5327552	nonsense	probably null
IGL02803:Nlrp2	APN	7	5328318	missense	probably damaging	1.00
IGL02968:Nlrp2	APN	7	5301025	missense	possibly damaging	0.81
IGL03342:Nlrp2	APN	7	5317483	missense	probably damaging	1.00
BB006:Nlrp2	UTSW	7	5327499	missense	probably damaging	1.00
BB016:Nlrp2	UTSW	7	5327499	missense	probably damaging	1.00
R0027:Nlrp2	UTSW	7	5322448	missense	probably damaging	1.00
R0051:Nlrp2	UTSW	7	5322334	unclassified	probably benign
R0079:Nlrp2	UTSW	7	5327730	missense	possibly damaging	0.81
R0130:Nlrp2	UTSW	7	5322418	missense	possibly damaging	0.77
R0157:Nlrp2	UTSW	7	5308770	missense	possibly damaging	0.88
R0201:Nlrp2	UTSW	7	5328329	missense	probably benign	0.00
R0276:Nlrp2	UTSW	7	5328109	missense	probably benign	0.00
R0288:Nlrp2	UTSW	7	5328545	missense	probably benign	0.19
R0332:Nlrp2	UTSW	7	5317630	missense	probably damaging	1.00
R0724:Nlrp2	UTSW	7	5319222	missense	probably damaging	1.00
R1241:Nlrp2	UTSW	7	5328431	missense	probably damaging	1.00
R1355:Nlrp2	UTSW	7	5327491	missense	possibly damaging	0.81
R1392:Nlrp2	UTSW	7	5329015	splice site	probably benign
R1470:Nlrp2	UTSW	7	5300951	missense	probably benign	0.18
R1470:Nlrp2	UTSW	7	5300951	missense	probably benign	0.18
R1563:Nlrp2	UTSW	7	5308725	missense	probably damaging	1.00
R1866:Nlrp2	UTSW	7	5327716	nonsense	probably null
R1942:Nlrp2	UTSW	7	5322448	missense	probably damaging	1.00
R1959:Nlrp2	UTSW	7	5327738	missense	probably damaging	1.00
R1961:Nlrp2	UTSW	7	5327738	missense	probably damaging	1.00
R2072:Nlrp2	UTSW	7	5325006	missense	probably damaging	1.00
R2161:Nlrp2	UTSW	7	5325042	missense	probably damaging	1.00
R2190:Nlrp2	UTSW	7	5319238	missense	possibly damaging	0.95
R2243:Nlrp2	UTSW	7	5335598	missense	probably benign	0.03
R2277:Nlrp2	UTSW	7	5328129	missense	probably benign
R2334:Nlrp2	UTSW	7	5337535	missense	probably benign	0.39
R3030:Nlrp2	UTSW	7	5327748	missense	probably damaging	1.00
R3404:Nlrp2	UTSW	7	5319287	missense	probably benign	0.01
R3941:Nlrp2	UTSW	7	5327552	nonsense	probably null
R4021:Nlrp2	UTSW	7	5325012	missense	probably benign	0.40
R4518:Nlrp2	UTSW	7	5325056	missense	possibly damaging	0.85
R4666:Nlrp2	UTSW	7	5319189	missense	probably benign	0.18
R4767:Nlrp2	UTSW	7	5328024	missense	probably damaging	1.00
R4827:Nlrp2	UTSW	7	5328951	missense	possibly damaging	0.60
R4873:Nlrp2	UTSW	7	5298859	missense	probably benign	0.09
R4875:Nlrp2	UTSW	7	5298859	missense	probably benign	0.09
R5020:Nlrp2	UTSW	7	5328077	missense	probably damaging	1.00
R5293:Nlrp2	UTSW	7	5327615	missense	probably damaging	1.00
R5310:Nlrp2	UTSW	7	5325008	missense	probably benign	0.00
R5336:Nlrp2	UTSW	7	5328119	missense	probably benign
R5390:Nlrp2	UTSW	7	5300909	missense	probably benign	0.00
R5864:Nlrp2	UTSW	7	5322381	missense	probably damaging	1.00
R5913:Nlrp2	UTSW	7	5324903	splice site	probably null
R6173:Nlrp2	UTSW	7	5337809	missense	probably damaging	0.96
R6274:Nlrp2	UTSW	7	5317555	missense	probably damaging	1.00
R6303:Nlrp2	UTSW	7	5337761	missense	probably damaging	1.00
R6343:Nlrp2	UTSW	7	5300926	missense	possibly damaging	0.82
R6704:Nlrp2	UTSW	7	5325041	nonsense	probably null
R6814:Nlrp2	UTSW	7	5308710	missense	probably benign	0.01
R6872:Nlrp2	UTSW	7	5308710	missense	probably benign	0.01
R7023:Nlrp2	UTSW	7	5328229	nonsense	probably null
R7028:Nlrp2	UTSW	7	5328572	missense	possibly damaging	0.93
R7109:Nlrp2	UTSW	7	5328617	missense	probably damaging	1.00
R7203:Nlrp2	UTSW	7	5317534	missense	probably damaging	1.00
R7322:Nlrp2	UTSW	7	5308645	missense	possibly damaging	0.94
R7339:Nlrp2	UTSW	7	5327628	missense	possibly damaging	0.95
R7573:Nlrp2	UTSW	7	5317469	critical splice donor site	probably null
R7657:Nlrp2	UTSW	7	5319168	missense	probably benign	0.01
R7929:Nlrp2	UTSW	7	5327499	missense	probably damaging	1.00
R7964:Nlrp2	UTSW	7	5328528	missense	probably damaging	1.00
R8097:Nlrp2	UTSW	7	5327651	missense	probably damaging	1.00
R8276:Nlrp2	UTSW	7	5317495	missense	probably benign	0.40
R8785:Nlrp2	UTSW	7	5327549	missense	probably damaging	0.99
R8798:Nlrp2	UTSW	7	5327888	missense	possibly damaging	0.86
R8982:Nlrp2	UTSW	7	5324979	missense	probably damaging	1.00
R9030:Nlrp2	UTSW	7	5322458	missense	probably null	0.00
R9038:Nlrp2	UTSW	7	5327479	missense	probably benign	0.14
R9149:Nlrp2	UTSW	7	5327573	missense	probably benign	0.01
R9229:Nlrp2	UTSW	7	5301053	missense	possibly damaging	0.81
R9584:Nlrp2	UTSW	7	5319216	missense	probably damaging	1.00
X0027:Nlrp2	UTSW	7	5327642	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCATGAATGAGGTCAGTGCTGG -3'
(R):5'- TCGGTATCCAGCAACTCCTG -3'

Sequencing Primer
(F):5'- GGTTTTCAAATGCAAGGAGATGTCC -3'
(R):5'- CCTGGCTGCAATAATATTTGTTCAGG -3'

Posted On

2015-05-19