Mutagenetix > Incidental Mutation

Incidental Mutation 'R0090:Nlrp12'

20139

Institutional Source

Beutler Lab

Gene Symbol

Nlrp12

Ensembl Gene

ENSMUSG00000078817

Gene Name

NLR family, pyrin domain containing 12

Synonyms

Nalp12

MMRRC Submission

038377-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R0090 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

3267458-3298370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3288664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 616 (E616G)

Ref Sequence

ENSEMBL: ENSMUSP00000104293 (fasta)

Gene Model

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

AlphaFold

E9Q5R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000108653
AA Change: E616G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817
AA Change: E616G

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

0.2530

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.7%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4933427I04Rik	A	G	4: 123,754,775 (GRCm39)	T230A	possibly damaging	Het
Acsm1	T	C	7: 119,261,412 (GRCm39)		probably benign	Het
Acta1	T	C	8: 124,620,396 (GRCm39)	N14S	probably damaging	Het
Aff4	A	G	11: 53,283,609 (GRCm39)	T362A	probably benign	Het
Aggf1	A	G	13: 95,501,467 (GRCm39)	I305T	probably benign	Het
Ap4b1	A	G	3: 103,727,745 (GRCm39)	D325G	possibly damaging	Het
Ap4e1	C	T	2: 126,906,905 (GRCm39)	T1055I	possibly damaging	Het
Arhgef2	A	T	3: 88,546,655 (GRCm39)	Q496L	probably damaging	Het
Arhgef28	A	G	13: 98,211,618 (GRCm39)	F122L	probably damaging	Het
Baiap3	G	A	17: 25,469,044 (GRCm39)		probably benign	Het
Casp8ap2	T	A	4: 32,640,327 (GRCm39)	H460Q	probably damaging	Het
Casz1	A	G	4: 149,017,868 (GRCm39)	T386A	probably benign	Het
Cd53	A	T	3: 106,674,725 (GRCm39)	V114E	possibly damaging	Het
Celsr2	A	G	3: 108,300,643 (GRCm39)		probably benign	Het
Cfap300	T	A	9: 8,027,184 (GRCm39)	N118I	probably benign	Het
Chaf1b	G	T	16: 93,684,012 (GRCm39)	A88S	possibly damaging	Het
Cldn10	A	T	14: 119,111,612 (GRCm39)	Y194F	probably damaging	Het
Clec2e	A	C	6: 129,072,181 (GRCm39)		probably null	Het
Cmpk2	A	T	12: 26,528,021 (GRCm39)	T413S	probably benign	Het
Col9a1	T	A	1: 24,262,643 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,405,139 (GRCm39)	Q2468K	probably benign	Het
Ddx60	A	G	8: 62,395,327 (GRCm39)	D88G	probably damaging	Het
Dnah8	A	G	17: 31,003,064 (GRCm39)	R3588G	probably benign	Het
Ect2	T	C	3: 27,169,625 (GRCm39)	T774A	probably benign	Het
Ect2	C	T	3: 27,192,651 (GRCm39)	E431K	probably null	Het
Ern1	A	G	11: 106,296,649 (GRCm39)	V767A	probably damaging	Het
Fbln1	A	C	15: 85,108,489 (GRCm39)	E75A	possibly damaging	Het
Fgf5	C	T	5: 98,409,846 (GRCm39)	R132*	probably null	Het
Folh1	T	C	7: 86,375,076 (GRCm39)		probably benign	Het
Gdf15	A	T	8: 71,082,334 (GRCm39)	H257Q	probably damaging	Het
Ghitm	T	C	14: 36,844,176 (GRCm39)	T322A	probably benign	Het
Gm5709	A	G	3: 59,526,192 (GRCm39)		noncoding transcript	Het
Hbb-y	C	T	7: 103,501,950 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,316,210 (GRCm39)	D3771V	probably damaging	Het
Hspa12a	T	C	19: 58,787,941 (GRCm39)	D627G	probably benign	Het
Idh2	T	C	7: 79,747,662 (GRCm39)	E286G	probably damaging	Het
Idh3b	C	A	2: 130,122,899 (GRCm39)	A297S	probably benign	Het
Igsf3	A	G	3: 101,342,968 (GRCm39)	E535G	probably damaging	Het
Ilf3	T	A	9: 21,306,710 (GRCm39)	D314E	probably damaging	Het
Itgb8	A	G	12: 119,166,298 (GRCm39)	S78P	probably benign	Het
Itih5	G	A	2: 10,169,495 (GRCm39)	V31I	probably benign	Het
Kcnj2	T	C	11: 110,963,853 (GRCm39)	V415A	probably benign	Het
Kin	A	G	2: 10,090,584 (GRCm39)	Q53R	possibly damaging	Het
Krt78	A	T	15: 101,856,272 (GRCm39)	M513K	probably benign	Het
Krtap4-8	A	T	11: 99,671,312 (GRCm39)		probably benign	Het
Ltbr	T	C	6: 125,286,412 (GRCm39)		probably benign	Het
Mgat4a	G	A	1: 37,529,414 (GRCm39)	T146I	probably damaging	Het
Mrps2	G	C	2: 28,358,268 (GRCm39)	W19C	probably damaging	Het
Mthfs	T	C	9: 89,093,344 (GRCm39)	S33P	probably damaging	Het
Myh6	T	C	14: 55,196,161 (GRCm39)	D546G	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ndst2	T	C	14: 20,777,335 (GRCm39)	T553A	probably damaging	Het
Nrde2	T	C	12: 100,095,545 (GRCm39)		probably benign	Het
Nup210l	G	A	3: 90,119,086 (GRCm39)	V1832I	probably benign	Het
Or1e1c	G	A	11: 73,266,402 (GRCm39)	V276I	probably benign	Het
Or4k77	A	T	2: 111,199,639 (GRCm39)	I221F	probably damaging	Het
Pcm1	A	T	8: 41,709,078 (GRCm39)	E9D	probably damaging	Het
Pear1	A	T	3: 87,661,649 (GRCm39)	D541E	possibly damaging	Het
Peg10	A	G	6: 4,756,063 (GRCm39)		probably benign	Het
Prss1	G	A	6: 41,438,166 (GRCm39)	R31Q	probably benign	Het
Ptpn13	T	C	5: 103,717,369 (GRCm39)	V1837A	probably damaging	Het
Rasgrp3	A	G	17: 75,805,456 (GRCm39)	D149G	probably damaging	Het
Reg3d	A	T	6: 78,355,466 (GRCm39)	H8Q	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Sacs	T	A	14: 61,442,889 (GRCm39)	L1645H	probably damaging	Het
Slc16a5	A	T	11: 115,355,751 (GRCm39)	S71C	probably damaging	Het
Slc9a3	A	G	13: 74,306,847 (GRCm39)	E324G	probably damaging	Het
Smgc	T	C	15: 91,743,960 (GRCm39)	V574A	possibly damaging	Het
Stac3	C	T	10: 127,339,799 (GRCm39)		probably benign	Het
Supv3l1	A	G	10: 62,265,485 (GRCm39)	L685P	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tas2r125	G	T	6: 132,887,361 (GRCm39)	A250S	probably benign	Het
Tdrd6	C	T	17: 43,939,132 (GRCm39)	V639I	probably benign	Het
Thap12	T	G	7: 98,365,100 (GRCm39)	W423G	probably damaging	Het
Tmem245	T	C	4: 56,899,410 (GRCm39)	I217V	probably benign	Het
Trip12	T	A	1: 84,709,857 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,468,317 (GRCm39)	V102A	probably benign	Het
Ubap1	T	C	4: 41,379,826 (GRCm39)	S347P	probably damaging	Het
Usp10	C	T	8: 120,679,935 (GRCm39)	Q612*	probably null	Het
Vmn2r72	T	C	7: 85,404,084 (GRCm39)	I36V	probably benign	Het
Vps37a	T	C	8: 40,980,030 (GRCm39)	I63T	possibly damaging	Het
Whrn	C	A	4: 63,350,969 (GRCm39)	R9L	possibly damaging	Het
Xrcc1	T	C	7: 24,269,642 (GRCm39)	Y401H	probably damaging	Het
Ylpm1	GCCTAAGCAGCAACCTAAG	GCCTAAG	12: 85,075,814 (GRCm39)		probably benign	Het
Zfhx3	G	A	8: 109,676,689 (GRCm39)	D2580N	possibly damaging	Het
Zfhx4	A	G	3: 5,308,685 (GRCm39)	N637S	probably damaging	Het
Zfp268	A	T	4: 145,349,195 (GRCm39)	K211*	probably null	Het
Zyg11a	A	T	4: 108,058,544 (GRCm39)		probably benign	Het

Other mutations in Nlrp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00733:Nlrp12	APN	7	3,289,387 (GRCm39)	missense	probably damaging	1.00
IGL01301:Nlrp12	APN	7	3,288,722 (GRCm39)	missense	probably damaging	1.00
IGL01346:Nlrp12	APN	7	3,289,316 (GRCm39)	missense	probably damaging	1.00
IGL01482:Nlrp12	APN	7	3,283,790 (GRCm39)	missense	possibly damaging	0.65
IGL01534:Nlrp12	APN	7	3,288,463 (GRCm39)	missense	probably benign	0.03
IGL02106:Nlrp12	APN	7	3,282,574 (GRCm39)	missense	probably benign	0.02
IGL02159:Nlrp12	APN	7	3,298,175 (GRCm39)	utr 5 prime	probably benign
IGL02184:Nlrp12	APN	7	3,289,094 (GRCm39)	missense	probably damaging	0.99
IGL02221:Nlrp12	APN	7	3,289,597 (GRCm39)	missense	possibly damaging	0.89
IGL02252:Nlrp12	APN	7	3,293,980 (GRCm39)	missense	probably benign	0.01
ANU18:Nlrp12	UTSW	7	3,288,722 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Nlrp12	UTSW	7	3,290,063 (GRCm39)	missense	possibly damaging	0.94
R0033:Nlrp12	UTSW	7	3,289,037 (GRCm39)	missense	probably damaging	1.00
R0033:Nlrp12	UTSW	7	3,289,037 (GRCm39)	missense	probably damaging	1.00
R0446:Nlrp12	UTSW	7	3,282,659 (GRCm39)	missense	probably benign	0.00
R0503:Nlrp12	UTSW	7	3,298,007 (GRCm39)	missense	probably damaging	0.97
R0538:Nlrp12	UTSW	7	3,297,892 (GRCm39)	missense	possibly damaging	0.56
R1114:Nlrp12	UTSW	7	3,277,166 (GRCm39)	missense	probably benign
R1680:Nlrp12	UTSW	7	3,289,804 (GRCm39)	missense	probably damaging	1.00
R2030:Nlrp12	UTSW	7	3,277,049 (GRCm39)	missense	probably damaging	1.00
R2096:Nlrp12	UTSW	7	3,281,825 (GRCm39)	missense	probably benign	0.05
R2118:Nlrp12	UTSW	7	3,290,079 (GRCm39)	missense	probably damaging	1.00
R2266:Nlrp12	UTSW	7	3,282,575 (GRCm39)	missense	probably benign	0.00
R3615:Nlrp12	UTSW	7	3,289,205 (GRCm39)	missense	probably benign	0.00
R3616:Nlrp12	UTSW	7	3,289,205 (GRCm39)	missense	probably benign	0.00
R4375:Nlrp12	UTSW	7	3,289,576 (GRCm39)	missense	possibly damaging	0.88
R4376:Nlrp12	UTSW	7	3,289,576 (GRCm39)	missense	possibly damaging	0.88
R4379:Nlrp12	UTSW	7	3,288,554 (GRCm39)	missense	probably benign	0.08
R4837:Nlrp12	UTSW	7	3,279,693 (GRCm39)	missense	probably damaging	1.00
R4856:Nlrp12	UTSW	7	3,289,072 (GRCm39)	missense	probably damaging	1.00
R4970:Nlrp12	UTSW	7	3,289,613 (GRCm39)	missense	possibly damaging	0.72
R5112:Nlrp12	UTSW	7	3,289,613 (GRCm39)	missense	possibly damaging	0.72
R5147:Nlrp12	UTSW	7	3,290,003 (GRCm39)	missense	possibly damaging	0.79
R5505:Nlrp12	UTSW	7	3,298,015 (GRCm39)	missense	probably damaging	0.99
R5636:Nlrp12	UTSW	7	3,273,926 (GRCm39)	missense	probably damaging	0.99
R5891:Nlrp12	UTSW	7	3,267,933 (GRCm39)	utr 3 prime	probably benign
R6039:Nlrp12	UTSW	7	3,290,002 (GRCm39)	missense	possibly damaging	0.79
R6039:Nlrp12	UTSW	7	3,290,002 (GRCm39)	missense	possibly damaging	0.79
R6365:Nlrp12	UTSW	7	3,288,518 (GRCm39)	missense	probably benign	0.00
R6383:Nlrp12	UTSW	7	3,282,673 (GRCm39)	missense	probably damaging	1.00
R6796:Nlrp12	UTSW	7	3,290,039 (GRCm39)	missense	probably damaging	1.00
R6886:Nlrp12	UTSW	7	3,289,313 (GRCm39)	missense	probably benign	0.03
R6957:Nlrp12	UTSW	7	3,271,160 (GRCm39)	missense	probably damaging	1.00
R6995:Nlrp12	UTSW	7	3,288,481 (GRCm39)	missense	probably benign
R7340:Nlrp12	UTSW	7	3,281,755 (GRCm39)	missense	possibly damaging	0.93
R7346:Nlrp12	UTSW	7	3,297,887 (GRCm39)	missense	probably damaging	0.96
R7387:Nlrp12	UTSW	7	3,289,831 (GRCm39)	missense	probably damaging	0.97
R7414:Nlrp12	UTSW	7	3,289,977 (GRCm39)	missense	probably benign	0.01
R7432:Nlrp12	UTSW	7	3,271,213 (GRCm39)	missense	probably benign	0.14
R7729:Nlrp12	UTSW	7	3,277,020 (GRCm39)	critical splice donor site	probably null
R7793:Nlrp12	UTSW	7	3,294,030 (GRCm39)	missense	probably benign
R8257:Nlrp12	UTSW	7	3,297,962 (GRCm39)	missense	probably damaging	1.00
R8357:Nlrp12	UTSW	7	3,289,435 (GRCm39)	missense	probably damaging	1.00
R8457:Nlrp12	UTSW	7	3,289,435 (GRCm39)	missense	probably damaging	1.00
R8558:Nlrp12	UTSW	7	3,298,111 (GRCm39)	missense	probably damaging	1.00
R8826:Nlrp12	UTSW	7	3,289,621 (GRCm39)	missense	possibly damaging	0.79
R9480:Nlrp12	UTSW	7	3,288,993 (GRCm39)	nonsense	probably null
X0064:Nlrp12	UTSW	7	3,290,016 (GRCm39)	missense	probably benign	0.14
X0065:Nlrp12	UTSW	7	3,289,205 (GRCm39)	missense	probably benign	0.00
Z1088:Nlrp12	UTSW	7	3,271,211 (GRCm39)	missense	probably benign	0.00
Z1176:Nlrp12	UTSW	7	3,271,211 (GRCm39)	missense	probably benign	0.00
Z1177:Nlrp12	UTSW	7	3,271,211 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCCAAGGGCACTTACAAGTATGTG -3'
(R):5'- GTTTGGCCTCCTCAACGAAGAGATG -3'

Sequencing Primer
(F):5'- GCACTTACAAGTATGTGGACTG -3'
(R):5'- CCTCCTCAACGAAGAGATGAGATG -3'

Posted On

2013-04-11