Mutagenetix > Incidental Mutations

Incidental Mutation 'R2118:Nlrp12'

231191

Institutional Source

Beutler Lab

Gene Symbol

Nlrp12

Ensembl Gene

ENSMUSG00000078817

Gene Name

NLR family, pyrin domain containing 12

Synonyms

Nalp12

MMRRC Submission

040122-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R2118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3218784-3249740 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3241449 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 144 (N144K)

Ref Sequence

ENSEMBL: ENSMUSP00000104293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108653]

Predicted Effect

probably damaging
Transcript: ENSMUST00000108653
AA Change: N144K

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

SMART Domains

Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817
AA Change: N144K

Domain	Start	End	E-Value	Type
PYRIN	9	91	1.84e-24	SMART
FISNA	128	201	1.71e-24	SMART
Pfam:NACHT	211	381	4.2e-52	PFAM
LRR	705	732	6.78e-3	SMART
LRR	734	761	2.13e1	SMART
LRR	762	789	3.49e-5	SMART
LRR	791	818	7.02e0	SMART
LRR	819	846	6.52e-5	SMART
LRR	848	875	6.92e-1	SMART
LRR	876	903	2.47e-5	SMART
LRR	905	932	3.78e0	SMART
LRR	933	960	1.63e-5	SMART
LRR	962	989	4.9e0	SMART
LRR	990	1017	1.79e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205233

Meta Mutation Damage Score

0.1682

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (90/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele have defects in dendritic and myeloid cell migration and a decreased susceptibility to type IV hypersensitivity reactions. Mice homozygous for a second null allele display increased susceptibility to induced colitis and to chemically-induced tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	C	11: 83,440,364	S31P	possibly damaging	Het
4933430I17Rik	T	A	4: 62,538,872	L143M	possibly damaging	Het
Abca13	T	C	11: 9,309,013		probably benign	Het
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Abi3bp	T	C	16: 56,477,864		probably benign	Het
Adamts8	T	C	9: 30,943,063	F76S	probably damaging	Het
Agpat3	T	C	10: 78,278,084	R257G	probably damaging	Het
Ahctf1	C	A	1: 179,769,452	R43L	probably damaging	Het
AI593442	T	C	9: 52,677,693	T195A	probably benign	Het
Aipl1	A	T	11: 72,029,369	L291Q	possibly damaging	Het
Ambn	T	A	5: 88,460,758		probably benign	Het
Arap2	G	A	5: 62,706,685	T532I	probably damaging	Het
Arg1	T	C	10: 24,920,723	N69D	possibly damaging	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Arhgef38	T	C	3: 133,160,753	K208E	probably benign	Het
Asb4	A	T	6: 5,390,687	T27S	probably benign	Het
Ash1l	C	G	3: 88,985,295	Q1494E	possibly damaging	Het
Car12	T	C	9: 66,713,892	V15A	probably benign	Het
Cdc20b	A	G	13: 113,078,698	I267V	probably benign	Het
Cdh1	A	G	8: 106,664,210	I653V	probably benign	Het
Cenpe	T	A	3: 135,246,884	M1445K	possibly damaging	Het
Cfap43	T	C	19: 47,770,438	E932G	probably damaging	Het
Cfhr1	G	C	1: 139,550,904	Q243E	probably benign	Het
Cnih2	C	A	19: 5,098,248	A6S	possibly damaging	Het
Cntnap1	G	T	11: 101,188,657	M1240I	probably benign	Het
Cntrl	T	C	2: 35,161,965	S1050P	probably benign	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Dbx2	A	C	15: 95,624,800	L342R	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dnajb2	T	C	1: 75,237,477	W30R	probably damaging	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Ednrb	T	A	14: 103,821,768	D274V	probably benign	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fancd2	A	G	6: 113,560,074		probably benign	Het
Fbxw14	T	C	9: 109,274,624		probably benign	Het
Gimap4	G	T	6: 48,690,971	C92F	probably benign	Het
Gm5828	A	G	1: 16,769,975		noncoding transcript	Het
Gnpat	T	C	8: 124,876,941	V186A	probably damaging	Het
Gnptab	T	C	10: 88,436,398	S967P	probably benign	Het
Ikbkb	T	C	8: 22,667,217		probably benign	Het
Il1rap	A	T	16: 26,710,565	H379L	probably damaging	Het
Ints12	T	C	3: 133,109,160	V376A	probably damaging	Het
Kalrn	C	T	16: 34,332,230	S309N	possibly damaging	Het
Kel	T	A	6: 41,689,300	I471L	probably benign	Het
Klhl25	T	C	7: 75,866,732	V462A	probably damaging	Het
Ksr1	A	T	11: 79,045,193	M77K	probably benign	Het
Leo1	T	A	9: 75,445,812	N212K	probably damaging	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,309,477	S249P	probably benign	Het
Mast4	A	G	13: 102,754,205	V855A	probably damaging	Het
Mdga2	T	A	12: 66,868,752	E43V	probably damaging	Het
Mmaa	A	T	8: 79,267,959	L406*	probably null	Het
Nlrp6	T	C	7: 140,926,444	V766A	probably benign	Het
Olfr1314	C	A	2: 112,092,330	V124L	probably benign	Het
Olfr186	A	G	16: 59,027,815	F31L	possibly damaging	Het
Pabpc4l	T	C	3: 46,446,841	T123A	probably benign	Het
Pappa2	T	C	1: 158,857,266	T768A	probably damaging	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Ppp1r13l	A	G	7: 19,371,421	M373V	possibly damaging	Het
Prss37	G	A	6: 40,515,360	R186*	probably null	Het
Psg16	C	A	7: 17,090,623	H111N	probably benign	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Rai14	A	G	15: 10,575,166	F569L	probably benign	Het
Rbpms2	T	A	9: 65,650,947	D116E	probably damaging	Het
Rgs20	A	G	1: 4,916,890		probably benign	Het
Rnf114	T	C	2: 167,510,883	L101P	probably damaging	Het
Rnf168	T	G	16: 32,278,218	L37R	probably damaging	Het
RP23-114B10.6	A	C	8: 69,372,290		noncoding transcript	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Slc2a13	A	G	15: 91,516,476	V181A	probably damaging	Het
Soga1	T	C	2: 157,033,325	E835G	probably damaging	Het
Spag17	A	G	3: 100,049,240	E884G	possibly damaging	Het
Sycn	T	C	7: 28,541,288	S127P	probably damaging	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tas2r117	T	A	6: 132,803,166	I89K	probably damaging	Het
Tep1	C	A	14: 50,855,572		probably null	Het
Tex14	T	C	11: 87,519,743		probably benign	Het
Tll1	T	C	8: 64,085,557	E351G	probably benign	Het
Tmem44	T	A	16: 30,547,444	K55*	probably null	Het
Trak1	T	A	9: 121,472,997	*940R	probably null	Het
Vmn1r200	C	T	13: 22,395,183	T43I	probably damaging	Het
Wars2	T	C	3: 99,216,567	V248A	probably benign	Het
Wfdc6b	C	T	2: 164,617,443	R142C	probably benign	Het
Zfp729a	A	T	13: 67,621,494		probably null	Het
Zfp759	C	A	13: 67,139,514		probably benign	Het

Other mutations in Nlrp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00733:Nlrp12	APN	7	3240757	missense	probably damaging	1.00
IGL01301:Nlrp12	APN	7	3240092	missense	probably damaging	1.00
IGL01346:Nlrp12	APN	7	3240686	missense	probably damaging	1.00
IGL01482:Nlrp12	APN	7	3235160	missense	possibly damaging	0.65
IGL01534:Nlrp12	APN	7	3239833	missense	probably benign	0.03
IGL02106:Nlrp12	APN	7	3233944	missense	probably benign	0.02
IGL02159:Nlrp12	APN	7	3249545	utr 5 prime	probably benign
IGL02184:Nlrp12	APN	7	3240464	missense	probably damaging	0.99
IGL02221:Nlrp12	APN	7	3240967	missense	possibly damaging	0.89
IGL02252:Nlrp12	APN	7	3245350	missense	probably benign	0.01
ANU18:Nlrp12	UTSW	7	3240092	missense	probably damaging	1.00
PIT4280001:Nlrp12	UTSW	7	3241433	missense	possibly damaging	0.94
R0033:Nlrp12	UTSW	7	3240407	missense	probably damaging	1.00
R0033:Nlrp12	UTSW	7	3240407	missense	probably damaging	1.00
R0090:Nlrp12	UTSW	7	3240034	missense	probably damaging	0.99
R0446:Nlrp12	UTSW	7	3234029	missense	probably benign	0.00
R0503:Nlrp12	UTSW	7	3249377	missense	probably damaging	0.97
R0538:Nlrp12	UTSW	7	3249262	missense	possibly damaging	0.56
R1114:Nlrp12	UTSW	7	3228534	missense	probably benign
R1680:Nlrp12	UTSW	7	3241174	missense	probably damaging	1.00
R2030:Nlrp12	UTSW	7	3228417	missense	probably damaging	1.00
R2096:Nlrp12	UTSW	7	3233195	missense	probably benign	0.05
R2266:Nlrp12	UTSW	7	3233945	missense	probably benign	0.00
R3615:Nlrp12	UTSW	7	3240575	missense	probably benign	0.00
R3616:Nlrp12	UTSW	7	3240575	missense	probably benign	0.00
R4375:Nlrp12	UTSW	7	3240946	missense	possibly damaging	0.88
R4376:Nlrp12	UTSW	7	3240946	missense	possibly damaging	0.88
R4379:Nlrp12	UTSW	7	3239924	missense	probably benign	0.08
R4837:Nlrp12	UTSW	7	3231061	missense	probably damaging	1.00
R4856:Nlrp12	UTSW	7	3240442	missense	probably damaging	1.00
R4970:Nlrp12	UTSW	7	3240983	missense	possibly damaging	0.72
R5112:Nlrp12	UTSW	7	3240983	missense	possibly damaging	0.72
R5147:Nlrp12	UTSW	7	3241373	missense	possibly damaging	0.79
R5505:Nlrp12	UTSW	7	3249385	missense	probably damaging	0.99
R5636:Nlrp12	UTSW	7	3225294	missense	probably damaging	0.99
R5891:Nlrp12	UTSW	7	3219259	utr 3 prime	probably benign
R6039:Nlrp12	UTSW	7	3241372	missense	possibly damaging	0.79
R6039:Nlrp12	UTSW	7	3241372	missense	possibly damaging	0.79
R6365:Nlrp12	UTSW	7	3239888	missense	probably benign	0.00
R6383:Nlrp12	UTSW	7	3234043	missense	probably damaging	1.00
R6796:Nlrp12	UTSW	7	3241409	missense	probably damaging	1.00
R6886:Nlrp12	UTSW	7	3240683	missense	probably benign	0.03
R6957:Nlrp12	UTSW	7	3222486	missense	probably damaging	1.00
R6995:Nlrp12	UTSW	7	3239851	missense	probably benign
R7340:Nlrp12	UTSW	7	3233125	missense	possibly damaging	0.93
R7346:Nlrp12	UTSW	7	3249257	missense	probably damaging	0.96
R7387:Nlrp12	UTSW	7	3241201	missense	probably damaging	0.97
R7414:Nlrp12	UTSW	7	3241347	missense	probably benign	0.01
R7432:Nlrp12	UTSW	7	3222539	missense	probably benign	0.14
R7729:Nlrp12	UTSW	7	3228388	critical splice donor site	probably null
R7793:Nlrp12	UTSW	7	3245400	missense	probably benign
X0064:Nlrp12	UTSW	7	3241386	missense	probably benign	0.14
X0065:Nlrp12	UTSW	7	3240575	missense	probably benign	0.00
Z1088:Nlrp12	UTSW	7	3222537	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTCAAAGAGGGTCTCCATTTG -3'
(R):5'- AGAAAGAAACTCTGTCTTAAGGGG -3'

Sequencing Primer
(F):5'- CTCAAAGAGGGTCTCCATTTGGATAG -3'
(R):5'- GGATCTGAGTTCGATTACCAGCAC -3'

Posted On

2014-09-18