Mutagenetix > Incidental Mutation

Incidental Mutation 'R6995:Nlrp12'

544121

Institutional Source

Beutler Lab

Gene Symbol

Nlrp12

Ensembl Gene

ENSMUSG00000078817

Gene Name

NLR family, pyrin domain containing 12

Synonyms

Nalp12

MMRRC Submission

045101-MU

Accession Numbers

Essential gene?

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

Stock #

R6995 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3267458-3298370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3288481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 677 (V677A)

Ref Sequence

ENSEMBL: ENSMUSP00000104293 (fasta)

Gene Model

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

AlphaFold

E9Q5R7

Predicted Effect

probably benign
Transcript: ENSMUST00000108653
AA Change: V677A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817
AA Change: V677A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,644,149 (GRCm39)	Y606C	probably benign	Het
Acad9	A	G	3: 36,139,630 (GRCm39)	Y410C	probably damaging	Het
Acot6	C	T	12: 84,156,149 (GRCm39)	P366S	probably damaging	Het
Adrm1b	T	C	3: 92,336,315 (GRCm39)		probably benign	Het
Anks1	G	T	17: 28,273,273 (GRCm39)	G964V	probably damaging	Het
Apol7a	A	T	15: 77,274,176 (GRCm39)		probably benign	Het
Arid3c	G	A	4: 41,725,087 (GRCm39)	A320V	probably damaging	Het
Bnip3l	A	T	14: 67,237,101 (GRCm39)	N50K	probably benign	Het
C1qtnf4	C	A	2: 90,720,297 (GRCm39)	A190D	probably benign	Het
Calhm5	A	T	10: 33,972,189 (GRCm39)	M82K	probably benign	Het
Cdcp3	G	T	7: 130,824,400 (GRCm39)	W165L	probably damaging	Het
Cdh1	G	T	8: 107,387,545 (GRCm39)	V482L	probably benign	Het
Cdrt4	A	C	11: 62,883,486 (GRCm39)	I63L	probably benign	Het
Cic	A	T	7: 24,970,736 (GRCm39)	T156S	possibly damaging	Het
Ckm	A	G	7: 19,154,156 (GRCm39)	N301S	probably benign	Het
Colgalt1	C	T	8: 72,076,165 (GRCm39)	R539C	probably damaging	Het
Cop1	A	G	1: 159,134,154 (GRCm39)	D132G	probably damaging	Het
Cpd	G	T	11: 76,675,881 (GRCm39)	N1257K	probably benign	Het
Cyp2c67	T	C	19: 39,604,123 (GRCm39)	H411R	probably damaging	Het
Cyp2r1	A	T	7: 114,152,316 (GRCm39)	F5I	probably damaging	Het
Dclk3	T	A	9: 111,296,768 (GRCm39)	L104Q	possibly damaging	Het
Dnah7c	A	T	1: 46,494,973 (GRCm39)	Q67L	probably benign	Het
Dnm1l	C	A	16: 16,147,671 (GRCm39)	E365*	probably null	Het
Dst	A	T	1: 34,205,315 (GRCm39)	I502F	probably damaging	Het
Espl1	T	C	15: 102,212,535 (GRCm39)	V547A	possibly damaging	Het
Foxa1	C	T	12: 57,589,264 (GRCm39)	A319T	probably benign	Het
Frem1	G	T	4: 82,904,838 (GRCm39)	H859N	probably damaging	Het
Frem3	T	A	8: 81,339,208 (GRCm39)	D500E	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grip1	A	G	10: 119,822,375 (GRCm39)	D394G	probably damaging	Het
Gsap	C	A	5: 21,476,235 (GRCm39)	T589K	possibly damaging	Het
Gsg1l	A	G	7: 125,522,658 (GRCm39)	V190A	probably damaging	Het
Kcnmb1	A	T	11: 33,920,131 (GRCm39)	T115S	probably benign	Het
Kirrel2	A	C	7: 30,154,604 (GRCm39)	F169C	probably damaging	Het
L3mbtl1	C	T	2: 162,803,368 (GRCm39)	T397M	probably damaging	Het
Lama1	G	A	17: 68,060,820 (GRCm39)	C716Y		Het
Lamc2	G	A	1: 153,012,508 (GRCm39)	T722M	probably benign	Het
Lrig1	T	C	6: 94,588,610 (GRCm39)	D513G	possibly damaging	Het
Lrrk1	T	C	7: 65,942,090 (GRCm39)	D716G	probably damaging	Het
Matn4	G	A	2: 164,231,584 (GRCm39)	R582*	probably null	Het
Mdn1	A	T	4: 32,733,374 (GRCm39)	R3133W	probably benign	Het
Mmp7	A	G	9: 7,695,489 (GRCm39)	D122G	probably damaging	Het
Naaladl1	A	G	19: 6,165,578 (GRCm39)	D744G	possibly damaging	Het
Nampt	T	G	12: 32,898,742 (GRCm39)	Y453D	probably benign	Het
Ntng2	T	C	2: 29,087,080 (GRCm39)	N414S	probably damaging	Het
Or1e16	A	G	11: 73,286,410 (GRCm39)	V146A	probably benign	Het
Or4g17	A	G	2: 111,209,708 (GRCm39)	D121G	probably damaging	Het
Or5p52	A	G	7: 107,502,829 (GRCm39)	R302G	probably benign	Het
Or9m1b	A	C	2: 87,836,529 (GRCm39)	F189V	probably benign	Het
Parp4	A	C	14: 56,851,196 (GRCm39)	Q733P	probably damaging	Het
Pdcl3	G	A	1: 39,034,417 (GRCm39)	V56I	probably benign	Het
Pepd	A	G	7: 34,721,144 (GRCm39)	Y256C	probably damaging	Het
Plg	G	T	17: 12,637,938 (GRCm39)	R788L	probably benign	Het
Plod1	A	T	4: 148,000,675 (GRCm39)		probably benign	Het
Ptprc	A	G	1: 138,016,482 (GRCm39)	V513A	probably damaging	Het
Pxdn	T	C	12: 30,045,370 (GRCm39)	I373T	possibly damaging	Het
Qrfprl	A	T	6: 65,418,285 (GRCm39)	K151I	probably damaging	Het
Rbbp8	G	A	18: 11,851,965 (GRCm39)	G262E	probably damaging	Het
Rfc2	T	A	5: 134,623,104 (GRCm39)	Y240*	probably null	Het
Rps15	A	G	10: 80,129,598 (GRCm39)	E71G	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr1	A	C	7: 28,793,607 (GRCm39)	M1287R	probably damaging	Het
Scart2	G	A	7: 139,841,514 (GRCm39)	D273N	probably benign	Het
Serpina9	A	G	12: 103,967,495 (GRCm39)	L300P	probably damaging	Het
Sh3rf2	G	A	18: 42,234,606 (GRCm39)	A130T	probably damaging	Het
Slc12a8	G	A	16: 33,355,263 (GRCm39)	W26*	probably null	Het
Snx18	A	T	13: 113,731,265 (GRCm39)	H576Q	probably damaging	Het
Tagln3	G	A	16: 45,543,321 (GRCm39)	T107I	probably benign	Het
Thap1	C	A	8: 26,652,679 (GRCm39)	T139K	probably damaging	Het
Tle4	T	A	19: 14,541,817 (GRCm39)		probably null	Het
Tmem87a	A	T	2: 120,193,409 (GRCm39)	M502K	possibly damaging	Het
Tpcn2	A	T	7: 144,810,522 (GRCm39)	V605E	probably benign	Het
Trgj1	C	A	13: 19,394,529 (GRCm39)		probably benign	Het
Tsc2	A	T	17: 24,847,028 (GRCm39)	V179E	probably damaging	Het
Ubap2l	T	C	3: 89,916,548 (GRCm39)	T909A	probably damaging	Het
Ubl4b	T	G	3: 107,462,140 (GRCm39)	Q40P	probably damaging	Het
Vmn1r229	A	G	17: 21,035,277 (GRCm39)	D174G	probably damaging	Het
Vmn2r50	A	T	7: 9,779,964 (GRCm39)	Y472*	probably null	Het
Vmn2r74	T	A	7: 85,601,943 (GRCm39)	D565V	probably benign	Het
Vmn2r74	T	A	7: 85,606,860 (GRCm39)		probably null	Het
Vmn2r82	T	A	10: 79,232,377 (GRCm39)	V792E	probably damaging	Het
Zfp335	G	A	2: 164,735,210 (GRCm39)	Q1179*	probably null	Het
Zmynd12	A	C	4: 119,310,772 (GRCm39)	K327Q	probably benign	Het
Zwilch	G	A	9: 64,072,731 (GRCm39)	Q27*	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
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
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'- GCCTGGTCTTCAGAGATAGATAGATC -3'
(R):5'- GCTTGTATGAGGTCCAGGAG -3'

Sequencing Primer
(F):5'- tatcccTCCCACAATCAC -3'
(R):5'- TCCAGGAGGAGGACTTCATC -3'

Posted On

2019-05-13