Incidental Mutation 'R6886:Nlrp12'
ID 536948
Institutional Source Beutler Lab
Gene Symbol Nlrp12
Ensembl Gene ENSMUSG00000078817
Gene Name NLR family, pyrin domain containing 12
Synonyms Nalp12
MMRRC Submission 044980-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R6886 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 3267458-3298370 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3289313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 400 (M400V)
Ref Sequence ENSEMBL: ENSMUSP00000104293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108653]
AlphaFold E9Q5R7
Predicted Effect probably benign
Transcript: ENSMUST00000108653
AA Change: M400V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817
AA Change: M400V

DomainStartEndE-ValueType
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: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A T 8: 22,518,706 (GRCm39) M44K probably benign Het
Bad T C 19: 6,928,702 (GRCm39) probably benign Het
Bbs12 A G 3: 37,373,390 (GRCm39) D61G probably damaging Het
Bcr C T 10: 74,989,769 (GRCm39) R722C probably damaging Het
Carf C A 1: 60,175,413 (GRCm39) probably null Het
Ccdc181 A G 1: 164,107,665 (GRCm39) E116G probably damaging Het
Celsr1 A G 15: 85,915,855 (GRCm39) V706A probably benign Het
Col9a1 T A 1: 24,224,426 (GRCm39) S203T unknown Het
Ctsl T C 13: 64,512,961 (GRCm39) probably null Het
Exosc7 A T 9: 122,965,023 (GRCm39) E277D probably benign Het
Fam20b A T 1: 156,518,081 (GRCm39) W238R probably damaging Het
Fanci A T 7: 79,070,090 (GRCm39) H430L possibly damaging Het
Fstl4 A G 11: 53,077,277 (GRCm39) D678G probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gm11569 T A 11: 99,689,247 (GRCm39) probably benign Het
Igfn1 G A 1: 135,901,198 (GRCm39) R306W probably damaging Het
Il6 C T 5: 30,223,201 (GRCm39) probably benign Het
Khdc1c T C 1: 21,439,749 (GRCm39) L100P possibly damaging Het
Kif18a G A 2: 109,127,008 (GRCm39) R314H probably damaging Het
Kif26b A C 1: 178,701,703 (GRCm39) K694T probably damaging Het
Kndc1 A G 7: 139,493,485 (GRCm39) T484A probably benign Het
Lonrf1 T C 8: 36,696,191 (GRCm39) probably null Het
Man1a2 C T 3: 100,563,387 (GRCm39) G169D probably benign Het
Med6 G T 12: 81,638,159 (GRCm39) D17E probably damaging Het
Neb T C 2: 52,110,236 (GRCm39) K204R probably damaging Het
Nhlrc1 T A 13: 47,167,252 (GRCm39) N335I possibly damaging Het
Or7e173 G T 9: 19,938,428 (GRCm39) H269N probably benign Het
Or8k22 A T 2: 86,163,408 (GRCm39) C97* probably null Het
Pkhd1 C T 1: 20,417,504 (GRCm39) S2549N probably benign Het
Pramel26 A G 4: 143,539,332 (GRCm39) F54L probably benign Het
Rab4b A C 7: 26,872,381 (GRCm39) L145R probably damaging Het
Rad50 T C 11: 53,577,011 (GRCm39) I526V probably benign Het
Rel T C 11: 23,694,304 (GRCm39) H309R probably benign Het
Rnf2 G T 1: 151,349,017 (GRCm39) N34K possibly damaging Het
Serpina3m G T 12: 104,355,386 (GRCm39) V18F possibly damaging Het
Serpinb9c T C 13: 33,334,310 (GRCm39) K244R probably benign Het
Setbp1 T A 18: 78,900,715 (GRCm39) Y984F probably damaging Het
Slc12a5 T A 2: 164,824,825 (GRCm39) M410K probably benign Het
Smarca4 C T 9: 21,570,127 (GRCm39) A710V probably damaging Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Ssrp1 T A 2: 84,870,280 (GRCm39) D101E probably benign Het
Tax1bp1 A T 6: 52,710,208 (GRCm39) E162D probably benign Het
Tenm4 T A 7: 96,446,599 (GRCm39) M823K possibly damaging Het
Tesk1 A G 4: 43,443,592 (GRCm39) D53G possibly damaging Het
Tnrc6a T A 7: 122,786,668 (GRCm39) S1577T probably benign Het
Tpr A G 1: 150,299,716 (GRCm39) I1270V probably benign Het
Trp53bp2 T C 1: 182,256,608 (GRCm39) probably null Het
Ube4a A T 9: 44,860,141 (GRCm39) I307N probably damaging Het
Unc13b A G 4: 43,170,156 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,166,927 (GRCm39) K735E probably damaging Het
Vmn2r54 A G 7: 12,366,080 (GRCm39) F285L probably benign Het
Vmn2r81 T G 10: 79,103,988 (GRCm39) S204A possibly damaging Het
Washc1 A G 17: 66,426,061 (GRCm39) D453G probably damaging Het
Zfp329 T A 7: 12,544,025 (GRCm39) I500L probably benign Het
Zfp516 A G 18: 82,975,125 (GRCm39) D441G probably benign Het
Zfp644 T C 5: 106,785,777 (GRCm39) T257A possibly damaging Het
Other mutations in Nlrp12
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TAGGCCGTGTTTCCCAAGATC -3'
(R):5'- ATTCGGAGGTTGCTTCTGCC -3'

Sequencing Primer
(F):5'- TCTGCAGCCAGAGAGACCAG -3'
(R):5'- AGGTTGCTTCTGCCCCAGG -3'
Posted On 2018-10-18