Mutagenetix > Incidental Mutation

Incidental Mutation 'R0033:Nlrp12'

15336

Institutional Source

Beutler Lab

Gene Symbol

Nlrp12

Ensembl Gene

ENSMUSG00000078817

Gene Name

NLR family, pyrin domain containing 12

Synonyms

Nalp12

MMRRC Submission

038327-MU

Accession Numbers

Essential gene?

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

Stock #

R0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

3267458-3298370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3289037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 492 (S492A)

Ref Sequence

ENSEMBL: ENSMUSP00000104293 (fasta)

Gene Model

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

AlphaFold

E9Q5R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000108653
AA Change: S492A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817
AA Change: S492A

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

0.1987

Coding Region Coverage

1x: 80.0%
3x: 71.7%
10x: 49.2%
20x: 29.7%

Validation Efficiency

96% (74/77)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agr3	C	T	12: 35,978,329 (GRCm39)	T14M	possibly damaging	Het
Aldh9a1	T	C	1: 167,184,140 (GRCm39)	S212P	probably damaging	Het
Ank2	T	A	3: 126,898,397 (GRCm39)		probably benign	Het
Cdkn3	C	A	14: 47,006,329 (GRCm39)	Y141*	probably null	Het
Ceacam12	T	G	7: 17,803,385 (GRCm39)		probably benign	Het
Celf1	T	C	2: 90,831,798 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,729,967 (GRCm39)	S1780P	probably damaging	Het
Cpxm2	T	C	7: 131,663,886 (GRCm39)	I346V	possibly damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Ctss	G	A	3: 95,452,888 (GRCm39)		probably benign	Het
Erp44	T	C	4: 48,241,289 (GRCm39)		probably benign	Het
Hibch	A	G	1: 52,944,610 (GRCm39)	K296R	probably null	Het
Katnip	T	G	7: 125,360,999 (GRCm39)	V103G	possibly damaging	Het
Kirrel3	A	G	9: 34,912,259 (GRCm39)	I208V	probably benign	Het
Lrrc8a	G	T	2: 30,145,357 (GRCm39)	C57F	probably damaging	Het
Ltbp1	A	G	17: 75,583,504 (GRCm39)	N435D	possibly damaging	Het
Myo16	A	T	8: 10,420,955 (GRCm39)	Y265F	probably damaging	Het
Nckap5	A	G	1: 125,867,979 (GRCm39)		probably benign	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rarg	T	A	15: 102,147,270 (GRCm39)	I372F	probably damaging	Het
Snrnp200	T	C	2: 127,079,983 (GRCm39)	I1920T	probably damaging	Het
Sv2b	A	G	7: 74,767,489 (GRCm39)	F636L	probably benign	Het
Thra	G	A	11: 98,655,178 (GRCm39)	V353I	probably benign	Het
Tm7sf2	A	G	19: 6,116,452 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,442,918 (GRCm39)		probably null	Het
Tnfrsf12a	A	G	17: 23,895,119 (GRCm39)		probably null	Het
Uba5	T	A	9: 103,931,347 (GRCm39)	T241S	probably benign	Het
Zfp420	A	G	7: 29,573,987 (GRCm39)	D69G	probably benign	Het
Zfp64	A	T	2: 168,767,635 (GRCm39)	I659N	possibly damaging	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
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
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

Posted On

2012-12-17