Mutagenetix > Incidental Mutation

Incidental Mutation 'R4376:Nlrp12'

325100

Institutional Source

Beutler Lab

Gene Symbol

Nlrp12

Ensembl Gene

ENSMUSG00000078817

Gene Name

NLR family, pyrin domain containing 12

Synonyms

Nalp12

MMRRC Submission

041120-MU

Accession Numbers

Essential gene?

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

Stock #

R4376 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3267458-3298370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3289576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 312 (L312P)

Ref Sequence

ENSEMBL: ENSMUSP00000104293 (fasta)

Gene Model

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

AlphaFold

E9Q5R7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108653
AA Change: L312P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817
AA Change: L312P

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

0.0827

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,314,238 (GRCm39)	S683P	probably benign	Het
Adgrg6	G	A	10: 14,344,794 (GRCm39)	T53M	probably damaging	Het
Atp10d	T	C	5: 72,454,318 (GRCm39)	L189P	probably damaging	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Eaf2	A	G	16: 36,620,998 (GRCm39)	L184P	unknown	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam83e	A	T	7: 45,373,317 (GRCm39)	S228C	probably damaging	Het
Gon4l	C	A	3: 88,814,694 (GRCm39)	P1888T	probably benign	Het
Kit	T	C	5: 75,801,159 (GRCm39)	I515T	probably benign	Het
Kmt2c	C	T	5: 25,520,324 (GRCm39)	V1929I	probably benign	Het
Marchf11	A	G	15: 26,309,532 (GRCm39)	E62G	probably damaging	Het
Mlh3	C	A	12: 85,305,972 (GRCm39)	R1175L	probably benign	Het
Mrps2	T	C	2: 28,358,871 (GRCm39)	S67P	probably benign	Het
Or13f5	A	T	4: 52,826,195 (GRCm39)	N266I	possibly damaging	Het
Or4c122	T	C	2: 89,079,589 (GRCm39)	R150G	possibly damaging	Het
Osbpl8	T	A	10: 111,105,280 (GRCm39)	I245N	possibly damaging	Het
Pank1	C	T	19: 34,855,104 (GRCm39)	V4I	probably benign	Het
Pdia4	G	A	6: 47,775,326 (GRCm39)	R495W	probably damaging	Het
Pfn4	T	A	12: 4,820,182 (GRCm39)	D10E	probably damaging	Het
Plce1	T	C	19: 38,693,891 (GRCm39)		probably null	Het
Pole	T	A	5: 110,485,071 (GRCm39)	I395K	possibly damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Prcc	A	G	3: 87,774,714 (GRCm39)	Y363H	probably damaging	Het
Rictor	T	C	15: 6,816,448 (GRCm39)	V1240A	probably benign	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Steep1	C	A	X: 36,087,812 (GRCm39)	C206F	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tsnaxip1	C	A	8: 106,568,433 (GRCm39)	C372*	probably null	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	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
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
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'- CTTAACACCCGGCTTGCTTG -3'
(R):5'- GAGTTGAATAGAAGCCACACCCAG -3'

Sequencing Primer
(F):5'- CCAGTGTTGTGGAAATATCTGTAG -3'
(R):5'- GTGCAGTGTACAAGACCTCATCTC -3'

Posted On

2015-07-06