Mutagenetix > Incidental Mutation

Incidental Mutation 'R9229:Nlrp2'

700090

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5298547-5351035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5301053 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 953 (T953S)

Ref Sequence

ENSEMBL: ENSMUSP00000045077 (fasta)

Gene Model

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

AlphaFold

Q4PLS0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045022
AA Change: T953S

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: T953S

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

possibly damaging
Transcript: ENSMUST00000207520
AA Change: T158S

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000207685

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (77/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	C	A	2: 28,462,378	M124I	probably damaging	Het
2310035C23Rik	A	T	1: 105,686,984	I218F	possibly damaging	Het
Actr10	A	G	12: 70,943,485	T104A	probably damaging	Het
Agbl1	G	A	7: 77,124,522	V1065I	unknown	Het
Agpat1	G	T	17: 34,611,689	V196L	probably null	Het
Agxt2	T	A	15: 10,409,511	V499E	probably damaging	Het
Amy2a1	T	A	3: 113,532,306		probably benign	Het
Ankrd35	A	G	3: 96,684,899	T834A	probably benign	Het
Arhgef18	T	A	8: 3,429,314	S51T	probably benign	Het
Armc12	A	C	17: 28,532,371	D113A	probably benign	Het
Armc4	C	A	18: 7,127,324	R963L	possibly damaging	Het
Azin1	T	A	15: 38,490,402	I436F	probably benign	Het
B3galnt2	T	C	13: 13,991,522	V334A	probably damaging	Het
BC055324	A	T	1: 163,967,090	W512R	probably damaging	Het
C87414	A	T	5: 93,636,230	C458*	probably null	Het
Ccdc68	C	T	18: 69,947,132	H183Y	probably benign	Het
Cd180	TA	TAA	13: 102,705,006		probably null	Het
Cemip	A	T	7: 83,957,625	W795R	probably damaging	Het
Cenpj	C	T	14: 56,564,719	E130K	possibly damaging	Het
Ciao1	G	C	2: 127,247,142	C52W	probably damaging	Het
Cmya5	A	G	13: 93,095,668	S971P	possibly damaging	Het
Cnot2	A	T	10: 116,549,055	L9*	probably null	Het
Coro1c	G	T	5: 113,865,686	H91N	probably damaging	Het
Crbn	A	T	6: 106,800,056	M1K	probably null	Het
Ctsb	T	A	14: 63,135,663	W90R	probably damaging	Het
Ctse	A	G	1: 131,668,124	I185V	probably damaging	Het
Dennd1b	G	T	1: 139,053,362	E105*	probably null	Het
Exoc5	G	A	14: 49,014,253	Q679*	probably null	Het
Gabrg3	G	A	7: 56,724,520	R433C	probably damaging	Het
Gm10354	A	T	5: 14,977,704	S53T	probably benign	Het
Gm8994	A	G	6: 136,329,143	I201V	possibly damaging	Het
Gria2	C	A	3: 80,802,382	M1I	probably null	Het
Hist1h1t	T	C	13: 23,696,046	S61P	probably damaging	Het
Hoxb6	A	T	11: 96,300,819	Q189L	probably damaging	Het
Hoxd10	A	G	2: 74,694,256	N304S	possibly damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Htra4	A	T	8: 25,038,541	C112S	probably damaging	Het
Ide	T	C	19: 37,284,199	T715A		Het
Ipo13	A	T	4: 117,901,604	I688N	probably damaging	Het
Irs2	A	C	8: 11,007,400	L344R	probably damaging	Het
Kat6a	A	G	8: 22,939,971	T1781A	unknown	Het
Lin7a	G	T	10: 107,411,983	V172L	probably damaging	Het
Lpcat1	G	T	13: 73,505,531	E282D	probably damaging	Het
Mcf2l	A	G	8: 13,013,584	T963A	probably benign	Het
Mfsd14a	G	A	3: 116,645,469	A128V	probably benign	Het
Mfsd6	C	G	1: 52,708,744	G321R	probably damaging	Het
Mill2	C	T	7: 18,856,550	T185I	probably damaging	Het
Mkl2	G	T	16: 13,412,321	A957S	possibly damaging	Het
Mpped1	C	T	15: 83,854,472	T270I	possibly damaging	Het
Myh9	T	A	15: 77,790,817	Y300F	possibly damaging	Het
Nlrp4e	T	A	7: 23,321,374	S429T	probably benign	Het
Nphp3	T	A	9: 104,036,177	Y1003N	probably damaging	Het
Nrap	T	C	19: 56,321,907	K1588R	probably benign	Het
Olfr1118	G	A	2: 87,308,821	V31I	probably benign	Het
Olfr1489	T	A	19: 13,634,050	V313D	probably damaging	Het
Pam	A	G	1: 97,825,935	V870A	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Plin3	A	T	17: 56,284,315	V155E	probably damaging	Het
Pmepa1	T	C	2: 173,276,169	T6A	probably benign	Het
Pnpla7	G	A	2: 24,983,491	V170I	probably damaging	Het
Ptprz1	A	G	6: 22,986,284	H361R	probably null	Het
Pvalb	T	A	15: 78,202,567	I50F	possibly damaging	Het
Rhag	G	A	17: 40,831,190	A175T	probably damaging	Het
Slc24a4	T	C	12: 102,234,724	V291A	possibly damaging	Het
Slc9b2	G	A	3: 135,336,534	E525K	probably benign	Het
Smg7	A	G	1: 152,845,220	F747S	possibly damaging	Het
Sorcs1	T	G	19: 50,152,862	I1144L	probably benign	Het
Sox1	A	T	8: 12,397,390	I344F	possibly damaging	Het
Spta1	A	T	1: 174,240,184	E2059V	probably damaging	Het
Sva	T	A	6: 42,040,116	N52K	possibly damaging	Het
Sva	T	A	6: 42,040,118	M53K	probably benign	Het
Thsd7b	A	G	1: 129,921,290	Y913C	probably damaging	Het
Tiam1	A	G	16: 89,837,831	S864P	possibly damaging	Het
Tma16	A	G	8: 66,484,127	V16A	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Treml1	A	G	17: 48,366,746	S262G	probably benign	Het
Ttn	A	T	2: 76,767,453	D19705E	probably benign	Het
Utp20	A	G	10: 88,758,377	L2162P	possibly damaging	Het
Vmn2r60	A	G	7: 42,142,299	I549V	possibly damaging	Het
Xpo4	T	C	14: 57,613,699	N329S	probably benign	Het
Zfp879	T	A	11: 50,833,059	H390L	probably damaging	Het
Zranb1	C	T	7: 132,981,388	S512F	probably damaging	Het
Zswim8	A	G	14: 20,716,325	H847R	probably benign	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
R1960: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
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'- TCGGAAATAGTGGGATCACACC -3'
(R):5'- AAATGGCATCCAGTTCCCC -3'

Sequencing Primer
(F):5'- GTGGGATCACACCTAAGCATTTGC -3'
(R):5'- GTTCCCCCATGAGAAAACTTTC -3'

Posted On

2022-02-07