Incidental Mutation 'IGL00733:Nlrp12'
ID 12368
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
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL00733
Quality Score
Status
Chromosome 7
Chromosomal Location 3267458-3298370 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3289387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 375 (Y375C)
Ref Sequence ENSEMBL: ENSMUSP00000104293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108653]
AlphaFold E9Q5R7
Predicted Effect probably damaging
Transcript: ENSMUST00000108653
AA Change: Y375C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817
AA Change: Y375C

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
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: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp8b A T 4: 123,018,202 (GRCm39) I358F probably benign Het
Clstn2 A G 9: 97,365,102 (GRCm39) V468A probably damaging Het
Ets1 T A 9: 32,664,222 (GRCm39) probably benign Het
Kcnj15 G A 16: 95,097,322 (GRCm39) E315K probably damaging Het
Lmo7 T A 14: 102,153,138 (GRCm39) S950T probably damaging Het
Snx29 C T 16: 11,221,366 (GRCm39) T264I probably damaging Het
Zfp229 A T 17: 21,958,483 (GRCm39) N7I possibly damaging Het
Other mutations in Nlrp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-12-06