Incidental Mutation 'R5636:Nlrp12'
ID 440369
Institutional Source Beutler Lab
Gene Symbol Nlrp12
Ensembl Gene ENSMUSG00000078817
Gene Name NLR family, pyrin domain containing 12
Synonyms Nalp12
MMRRC Submission 043287-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R5636 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 3267458-3298370 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3273926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1010 (L1010Q)
Ref Sequence ENSEMBL: ENSMUSP00000104293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108653]
AlphaFold E9Q5R7
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104841
Predicted Effect probably damaging
Transcript: ENSMUST00000108653
AA Change: L1010Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817
AA Change: L1010Q

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,922,382 (GRCm39) Q448* probably null Het
Abca5 A G 11: 110,192,362 (GRCm39) Y717H probably benign Het
Abcg2 T A 6: 58,649,041 (GRCm39) D295E probably damaging Het
Accsl C T 2: 93,699,370 (GRCm39) E7K probably benign Het
Acvr2b A G 9: 119,257,375 (GRCm39) Y152C probably damaging Het
Akap13 A G 7: 75,354,120 (GRCm39) E1747G probably damaging Het
Arpp19 C T 9: 74,945,215 (GRCm39) probably benign Het
Atp10d A G 5: 72,445,562 (GRCm39) Y74C probably damaging Het
Atp6v0b T C 4: 117,743,582 (GRCm39) probably benign Het
Bms1 C A 6: 118,365,786 (GRCm39) M1133I probably benign Het
Bysl A C 17: 47,913,648 (GRCm39) D259E probably benign Het
Capn1 A T 19: 6,064,472 (GRCm39) V9E probably benign Het
Cdkl2 T C 5: 92,181,601 (GRCm39) I127V probably benign Het
Cyp2c38 G A 19: 39,426,750 (GRCm39) Q184* probably null Het
Cypt12 C T 3: 18,002,749 (GRCm39) R41C probably benign Het
Dnaaf11 A T 15: 66,372,665 (GRCm39) probably null Het
Fat2 T C 11: 55,173,307 (GRCm39) I2469V probably damaging Het
Fbxo38 A G 18: 62,644,089 (GRCm39) V923A possibly damaging Het
Gm13889 A G 2: 93,787,031 (GRCm39) C148R probably damaging Het
Gpd1 A T 15: 99,619,939 (GRCm39) T223S probably benign Het
Hcrtr1 C A 4: 130,024,738 (GRCm39) G383C possibly damaging Het
Hivep1 C T 13: 42,316,932 (GRCm39) P2047S possibly damaging Het
Islr2 T C 9: 58,108,584 (GRCm39) T35A probably benign Het
Lgr6 T C 1: 134,914,816 (GRCm39) D644G probably benign Het
Mdn1 C T 4: 32,695,480 (GRCm39) T1173I probably damaging Het
Mon1a T C 9: 107,778,439 (GRCm39) V221A probably damaging Het
Mrgprb4 A G 7: 47,848,218 (GRCm39) C237R probably benign Het
Myo1b A G 1: 51,836,687 (GRCm39) M264T probably damaging Het
Naxd A G 8: 11,552,676 (GRCm39) N32S probably benign Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Nuggc A T 14: 65,885,637 (GRCm39) K755* probably null Het
Or2av9 T C 11: 58,380,877 (GRCm39) K235E probably damaging Het
Or9i2 C T 19: 13,815,701 (GRCm39) V279M possibly damaging Het
Pik3ca G A 3: 32,515,709 (GRCm39) R794Q probably damaging Het
Pnp2 A G 14: 51,193,649 (GRCm39) probably null Het
Ric3 G A 7: 108,638,027 (GRCm39) T242I probably damaging Het
Rnf213 A C 11: 119,327,731 (GRCm39) Q1906P probably damaging Het
Rnf213 G A 11: 119,327,455 (GRCm39) R1814K probably benign Het
Rufy2 T A 10: 62,833,733 (GRCm39) I265N probably damaging Het
Scap G T 9: 110,209,662 (GRCm39) G744C probably damaging Het
Serpinb3c T C 1: 107,202,744 (GRCm39) Q88R possibly damaging Het
Sf3b1 T C 1: 55,036,352 (GRCm39) D907G probably damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc4a3 C T 1: 75,530,860 (GRCm39) L749F possibly damaging Het
Smtn T G 11: 3,467,829 (GRCm39) probably null Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Sptbn5 G A 2: 119,887,885 (GRCm39) probably benign Het
Stam G T 2: 14,122,238 (GRCm39) M112I probably damaging Het
Tex35 C T 1: 156,927,794 (GRCm39) W125* probably null Het
Tmem215 A G 4: 40,474,394 (GRCm39) E157G probably damaging Het
Traf6 G A 2: 101,527,254 (GRCm39) V335M probably benign Het
Ubr5 T A 15: 37,984,240 (GRCm39) K2302N probably damaging Het
Vmn2r78 A G 7: 86,603,637 (GRCm39) H605R probably 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
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
Predicted Primers PCR Primer
(F):5'- AACTGCTGAGCATGCTGAGAG -3'
(R):5'- CTGTCCAGCAACCACTGTATG -3'

Sequencing Primer
(F):5'- TGAGCATGCTGAGAGCTCTC -3'
(R):5'- GCTGCTCTTCCAAAGGTACTGAG -3'
Posted On 2016-11-08