Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02159:Nlrp12'

282390

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp12

Ensembl Gene

ENSMUSG00000078817

Gene Name

NLR family, pyrin domain containing 12

Synonyms

Nalp12

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL02159

Quality Score

Status

Chromosome

Chromosomal Location

3218784-3249740 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to T at 3249545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104293 (fasta)

Gene Model

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

AlphaFold

E9Q5R7

Predicted Effect

probably benign
Transcript: ENSMUST00000108653

SMART Domains

Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,610,665	L257S	probably damaging	Het
2210010C04Rik	T	C	6: 41,032,957	T148A	probably benign	Het
Abca13	A	G	11: 9,314,545	S2976G	probably benign	Het
Afmid	T	C	11: 117,836,426	W267R	probably damaging	Het
Ahi1	A	G	10: 21,058,177	K969R	probably benign	Het
Aldh1l1	A	G	6: 90,594,656		probably benign	Het
Ank3	A	G	10: 69,808,892	H62R	probably damaging	Het
Arid2	T	C	15: 96,358,912		probably benign	Het
BC030867	G	A	11: 102,260,165		probably null	Het
Caps2	G	A	10: 112,204,023	V457M	probably benign	Het
Capza1	T	C	3: 104,864,371	D3G	possibly damaging	Het
Cav1	T	A	6: 17,307,972	V41E	possibly damaging	Het
Celf2	G	T	2: 6,604,177	C264*	probably null	Het
Clec4a2	C	T	6: 123,139,326	S150L	probably benign	Het
D7Ertd443e	A	T	7: 134,349,400	D181E	possibly damaging	Het
Epyc	A	G	10: 97,670,631	E100G	probably benign	Het
Hdac11	A	G	6: 91,173,102	I294M	probably damaging	Het
Hsdl1	A	G	8: 119,566,414	V73A	probably benign	Het
Kmt2c	A	T	5: 25,311,343	S2501T	probably benign	Het
Lrrc41	T	A	4: 116,088,486	F133I	probably benign	Het
Map3k19	C	A	1: 127,823,170	G815C	probably benign	Het
Muc13	C	A	16: 33,799,479	T199K	unknown	Het
Nif3l1	G	T	1: 58,447,946		probably null	Het
Nup205	T	C	6: 35,189,178	S244P	probably damaging	Het
Olfr1353	A	T	10: 78,969,901	N84I	probably damaging	Het
Parl	G	A	16: 20,280,088		probably benign	Het
Pax8	A	G	2: 24,440,788	I211T	possibly damaging	Het
Pglyrp4	A	G	3: 90,730,853	E158G	possibly damaging	Het
Plekhm1	A	G	11: 103,380,231	L478P	probably benign	Het
Serpina1a	C	T	12: 103,854,706	G338R	probably damaging	Het
Serpina5	T	C	12: 104,105,298	L388P	possibly damaging	Het
Sorbs1	A	G	19: 40,327,596	V367A	probably damaging	Het
Srgap2	A	G	1: 131,319,666		probably benign	Het
Surf1	A	G	2: 26,915,651	L26P	probably damaging	Het
Taf4	A	G	2: 179,938,470	S486P	probably benign	Het
Tdrd6	A	T	17: 43,628,390	V589E	probably damaging	Het
Tuba3b	T	G	6: 145,619,666	S287A	probably benign	Het
Txnrd3	G	A	6: 89,669,324	R295H	probably damaging	Het
Ubr5	G	T	15: 37,991,379		probably benign	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Usp32	A	G	11: 85,005,802		probably null	Het
Utp23	G	A	15: 51,882,365	R87K	probably benign	Het
Vps8	T	C	16: 21,466,484	I405T	possibly damaging	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
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
R1680:Nlrp12	UTSW	7	3241174	missense	probably damaging	1.00
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

Posted On

2015-04-16