Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Nlrp12'

188415

Institutional Source

Beutler Lab

Gene Symbol

Nlrp12

Ensembl Gene

ENSMUSG00000078817

Gene Name

NLR family, pyrin domain containing 12

Synonyms

Nalp12

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3218784-3249740 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3241174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 236 (D236V)

Ref Sequence

ENSEMBL: ENSMUSP00000104293 (fasta)

Gene Model

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

AlphaFold

E9Q5R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000108653
AA Change: D236V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817
AA Change: D236V

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528	P187R	probably damaging	Het
Ahnak	T	A	19: 9,009,963	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,278,954	D827V	probably damaging	Het
Bcat1	T	G	6: 145,039,628	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746	I184L	probably benign	Het
Ccdc129	C	T	6: 55,968,766	T824I	probably damaging	Het
Clca3b	A	T	3: 144,837,824	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668		probably null	Het
Csmd3	G	A	15: 47,741,170	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnm3	A	G	1: 162,010,976	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,173,868	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,722,493	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162		probably null	Het
Ireb2	C	T	9: 54,881,518	T92I	probably damaging	Het
Kcnj8	A	T	6: 142,570,189	L64*	probably null	Het
Mapk8ip3	A	G	17: 24,901,011	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998	S295*	probably null	Het
Npnt	A	G	3: 132,906,802	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161	V124I	probably benign	Het
Olfr556	A	G	7: 102,670,733	D271G	possibly damaging	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,277,750		probably null	Het
Plxnc1	A	C	10: 94,841,551	L938R	probably benign	Het
Pou4f2	G	T	8: 78,434,831	A381D	probably damaging	Het
Prdm4	A	G	10: 85,899,223	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,791,436	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slc5a6	A	G	5: 31,042,644	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840	V102A	probably benign	Het
Tomm70a	T	C	16: 57,121,961	S34P	unknown	Het
Txlnb	G	T	10: 17,843,233	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669	R361*	probably null	Het
Vcan	T	C	13: 89,703,547	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423	R6K	probably benign	Het
Zan	T	A	5: 137,403,050	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp606	A	T	7: 12,493,971	H615L	probably damaging	Het
Zp3r	A	T	1: 130,582,880	N433K	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
R2030:Nlrp12	UTSW	7	3228417	missense	probably damaging	1.00
R2096:Nlrp12	UTSW	7	3233195	missense	probably benign	0.05
R2118:Nlrp12	UTSW	7	3241449	missense	probably damaging	1.00
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
R8257:Nlrp12	UTSW	7	3249332	missense	probably damaging	1.00
R8357:Nlrp12	UTSW	7	3240805	missense	probably damaging	1.00
R8457:Nlrp12	UTSW	7	3240805	missense	probably damaging	1.00
R8558:Nlrp12	UTSW	7	3249481	missense	probably damaging	1.00
R8826:Nlrp12	UTSW	7	3240991	missense	possibly damaging	0.79
R9480:Nlrp12	UTSW	7	3240363	nonsense	probably null
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
Z1176:Nlrp12	UTSW	7	3222537	missense	probably benign	0.00
Z1177:Nlrp12	UTSW	7	3222537	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCTAGCAAGCCGTGCAGCTTC -3'
(R):5'- TGTAGAGTGGGAACGCTCCAGAAC -3'

Sequencing Primer
(F):5'- CTTCCGAGGAGGACTTCAGTAG -3'
(R):5'- GAACCAGGCGTCACCAG -3'

Posted On

2014-05-09