Mutagenetix > Incidental Mutation

Incidental Mutation 'R5112:Nlrp12'

393926

Institutional Source

Beutler Lab

Gene Symbol

Nlrp12

Ensembl Gene

ENSMUSG00000078817

Gene Name

NLR family, pyrin domain containing 12

Synonyms

Nalp12

MMRRC Submission

042700-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3267458-3298370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3289613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 300 (H300Y)

Ref Sequence

ENSEMBL: ENSMUSP00000104293 (fasta)

Gene Model

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

AlphaFold

E9Q5R7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108653
AA Change: H300Y

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817
AA Change: H300Y

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,328,383 (GRCm39)	K846R	probably damaging	Het
Acsbg3	T	A	17: 57,184,465 (GRCm39)	M80K	probably benign	Het
Acsm5	A	G	7: 119,136,502 (GRCm39)	K358E	possibly damaging	Het
Adam26a	A	T	8: 44,021,893 (GRCm39)	D532E	probably benign	Het
Adamts19	C	T	18: 59,164,876 (GRCm39)	R993*	probably null	Het
Akr1c13	A	G	13: 4,244,151 (GRCm39)	K68R	possibly damaging	Het
Amer3	T	A	1: 34,626,157 (GRCm39)	M132K	possibly damaging	Het
Ankrd2	A	G	19: 42,028,326 (GRCm39)	D38G	possibly damaging	Het
Ano7	G	A	1: 93,325,085 (GRCm39)	V546M	possibly damaging	Het
Aox1	G	A	1: 58,349,254 (GRCm39)		probably null	Het
Apc	T	A	18: 34,449,162 (GRCm39)	C1985*	probably null	Het
Astn1	C	T	1: 158,484,763 (GRCm39)	S15F	possibly damaging	Het
Atp13a4	A	T	16: 29,228,686 (GRCm39)	N950K	possibly damaging	Het
Bcl6	A	G	16: 23,791,496 (GRCm39)	V286A	probably benign	Het
Brox	T	A	1: 183,073,541 (GRCm39)	T79S	probably benign	Het
C2cd3	A	T	7: 100,092,692 (GRCm39)	I512F	possibly damaging	Het
Camta1	A	G	4: 151,158,511 (GRCm39)	L542S	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Card10	C	T	15: 78,686,580 (GRCm39)		probably null	Het
Cd96	A	G	16: 45,919,301 (GRCm39)	M240T	probably benign	Het
Cdc123	A	G	2: 5,809,748 (GRCm39)	L221P	possibly damaging	Het
Cdh19	A	G	1: 110,882,354 (GRCm39)	V46A	possibly damaging	Het
Clcn3	G	A	8: 61,407,586 (GRCm39)	H24Y	probably benign	Het
Col11a2	T	C	17: 34,283,062 (GRCm39)		probably benign	Het
Cpsf3	A	T	12: 21,341,785 (GRCm39)	M50L	probably benign	Het
Csf3	T	A	11: 98,593,749 (GRCm39)	L197Q	probably damaging	Het
Ctsw	T	A	19: 5,516,285 (GRCm39)	D196V	probably damaging	Het
Dcun1d3	A	T	7: 119,457,250 (GRCm39)	I154K	probably damaging	Het
Ddr1	T	C	17: 35,993,377 (GRCm39)	T877A	probably benign	Het
Dnah8	T	A	17: 30,950,012 (GRCm39)	L1944I	probably benign	Het
Dpf3	G	T	12: 83,417,385 (GRCm39)	S29*	probably null	Het
Ephb1	A	G	9: 101,848,378 (GRCm39)	I640T	probably damaging	Het
Fat1	G	A	8: 45,477,319 (GRCm39)	G2099S	probably damaging	Het
Fbxo41	G	T	6: 85,454,906 (GRCm39)	N667K	probably damaging	Het
Flacc1	T	C	1: 58,698,441 (GRCm39)	T326A	probably benign	Het
Gart	A	T	16: 91,430,933 (GRCm39)	D376E	probably benign	Het
Glyr1	G	A	16: 4,836,740 (GRCm39)	Q475*	probably null	Het
Gm28051	G	A	12: 102,686,430 (GRCm39)	Q77*	probably null	Het
Gnmt	C	A	17: 47,037,256 (GRCm39)	R176L	probably damaging	Het
Gpr176	A	T	2: 118,110,629 (GRCm39)	V210D	possibly damaging	Het
Gtf2ird1	A	T	5: 134,431,038 (GRCm39)	D339E	probably damaging	Het
Hmbox1	A	G	14: 65,063,061 (GRCm39)	Y372H	probably damaging	Het
Ier2	G	T	8: 85,389,361 (GRCm39)	A7E	probably damaging	Het
Il20ra	A	G	10: 19,634,691 (GRCm39)	T311A	possibly damaging	Het
Il24	T	C	1: 130,811,179 (GRCm39)		probably null	Het
Insl6	G	A	19: 29,298,996 (GRCm39)	Q139*	probably null	Het
Itga2b	A	T	11: 102,349,017 (GRCm39)	I729K	probably damaging	Het
Itpr2	A	T	6: 146,135,489 (GRCm39)	M1814K	possibly damaging	Het
Klhl3	G	A	13: 58,166,703 (GRCm39)	S429F	probably damaging	Het
Lipo2	T	C	19: 33,725,865 (GRCm39)	N129S	probably benign	Het
Lrba	C	T	3: 86,132,678 (GRCm39)	T28M	probably benign	Het
Ly86	G	T	13: 37,559,013 (GRCm39)	G71C	probably damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Mical2	A	G	7: 111,919,818 (GRCm39)	S443G	probably damaging	Het
Mmp17	A	G	5: 129,679,229 (GRCm39)	H376R	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myo7b	T	C	18: 32,116,640 (GRCm39)	H989R	probably damaging	Het
Neil2	A	G	14: 63,425,909 (GRCm39)	W154R	probably damaging	Het
Nlrp3	A	T	11: 59,439,554 (GRCm39)	Y377F	probably damaging	Het
Notch2	T	C	3: 98,008,952 (GRCm39)		probably null	Het
Nudcd1	A	T	15: 44,240,039 (GRCm39)	C500*	probably null	Het
Or5b24	T	C	19: 12,912,180 (GRCm39)	V26A	probably benign	Het
Or5d37	A	G	2: 87,923,353 (GRCm39)	V309A	probably damaging	Het
Or8g18	A	G	9: 39,149,717 (GRCm39)	M1T	probably null	Het
Or8h9	A	T	2: 86,789,698 (GRCm39)	Y35N	probably damaging	Het
Pabpc6	T	A	17: 9,888,540 (GRCm39)	S4C	probably damaging	Het
Pan2	C	T	10: 128,151,464 (GRCm39)	R835*	probably null	Het
Parp9	G	A	16: 35,784,683 (GRCm39)	V346I	probably damaging	Het
Pcbp4	C	T	9: 106,337,917 (GRCm39)	T69M	probably damaging	Het
Pclo	T	A	5: 14,727,896 (GRCm39)		probably benign	Het
Phldb3	A	T	7: 24,324,110 (GRCm39)	I495F	possibly damaging	Het
Plce1	G	T	19: 38,640,277 (GRCm39)	V508F	probably benign	Het
Pmpca	A	T	2: 26,285,178 (GRCm39)	I468F	probably damaging	Het
Pmpcb	G	A	5: 21,961,441 (GRCm39)	R399H	probably damaging	Het
Ptprc	A	G	1: 138,022,037 (GRCm39)	S544P	probably damaging	Het
Rev3l	T	A	10: 39,699,326 (GRCm39)	D1274E	probably benign	Het
Ryr3	A	T	2: 112,733,010 (GRCm39)	V612E	probably damaging	Het
Scfd2	G	T	5: 74,366,982 (GRCm39)	H639Q	probably benign	Het
Sell	T	A	1: 163,892,887 (GRCm39)	H34Q	possibly damaging	Het
Setd2	A	G	9: 110,377,226 (GRCm39)	D347G	probably benign	Het
Sgip1	G	A	4: 102,726,966 (GRCm39)	D81N	probably damaging	Het
Slc12a1	A	T	2: 125,060,144 (GRCm39)	I940F	possibly damaging	Het
Slc25a34	T	A	4: 141,348,769 (GRCm39)	I232L	probably benign	Het
Slc36a3	T	A	11: 55,039,399 (GRCm39)	K76N	probably damaging	Het
Slc6a15	T	A	10: 103,225,087 (GRCm39)	D58E	probably benign	Het
Slc6a7	T	C	18: 61,140,448 (GRCm39)	S195G	probably null	Het
Svep1	G	A	4: 58,068,610 (GRCm39)	Q3059*	probably null	Het
Syce1l	A	C	8: 114,378,274 (GRCm39)	H56P	probably damaging	Het
Tbc1d2	A	G	4: 46,606,503 (GRCm39)	V814A	probably damaging	Het
Tbx18	T	A	9: 87,597,740 (GRCm39)	I265F	probably damaging	Het
Thbs2	T	C	17: 14,890,852 (GRCm39)		probably null	Het
Ttll1	T	C	15: 83,380,597 (GRCm39)	H256R	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttyh2	A	T	11: 114,587,583 (GRCm39)	T195S	probably benign	Het
Unc119b	A	G	5: 115,263,553 (GRCm39)	L217P	probably damaging	Het
Unc5a	T	C	13: 55,151,231 (GRCm39)		probably null	Het
Usp6nl	A	G	2: 6,425,714 (GRCm39)	K152E	probably benign	Het
Vcam1	T	C	3: 115,910,941 (GRCm39)	R486G	probably benign	Het
Vmn2r1	A	C	3: 63,997,544 (GRCm39)	Q400P	possibly damaging	Het
Vmn2r80	T	A	10: 79,030,292 (GRCm39)	V706D	possibly damaging	Het
Vmn2r87	A	T	10: 130,314,422 (GRCm39)	L388Q	probably damaging	Het
Vwa3a	A	T	7: 120,383,208 (GRCm39)	Y603F	probably damaging	Het
Zfp850	A	T	7: 27,689,658 (GRCm39)	C183*	probably null	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
R0090:Nlrp12	UTSW	7	3,288,664 (GRCm39)	missense	probably damaging	0.99
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
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'- CTTCCTAGCTTCCTCGGAGAAG -3'
(R):5'- CAAAGTGATGTTGGACTGGGC -3'

Sequencing Primer
(F):5'- TCGGAGAAGCCCAGGATCTC -3'
(R):5'- GCTCTTCCAAGGCCGGTTTG -3'

Posted On

2016-06-15