Incidental Mutation 'R7729:Nlrp12'
ID 595703
Institutional Source Beutler Lab
Gene Symbol Nlrp12
Ensembl Gene ENSMUSG00000078817
Gene Name NLR family, pyrin domain containing 12
Synonyms Nalp12
MMRRC Submission 045785-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R7729 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 3267458-3298370 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 3277020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108653]
AlphaFold E9Q5R7
Predicted Effect probably null
Transcript: ENSMUST00000108653
SMART Domains Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817

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: 99.6%
  • 20x: 98.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik T G 2: 127,028,710 (GRCm39) D163A possibly damaging Het
Abce1 A T 8: 80,414,537 (GRCm39) I454N probably damaging Het
Acaca A G 11: 84,262,339 (GRCm39) I1980M probably damaging Het
Adgrb2 C T 4: 129,885,917 (GRCm39) T19M probably benign Het
Agmo T A 12: 37,464,974 (GRCm39) S417T probably benign Het
Akap8l T C 17: 32,552,068 (GRCm39) E403G probably damaging Het
Art5 C T 7: 101,747,711 (GRCm39) A23T possibly damaging Het
Atg9a T C 1: 75,161,204 (GRCm39) T681A probably benign Het
Atp11b A G 3: 35,832,256 (GRCm39) Q37R probably damaging Het
Atp2a2 T C 5: 122,629,829 (GRCm39) E80G probably benign Het
AW551984 G A 9: 39,511,071 (GRCm39) P172L possibly damaging Het
Bace1 C T 9: 45,769,743 (GRCm39) R296C probably damaging Het
Ccser1 T A 6: 61,288,840 (GRCm39) H334Q probably benign Het
Chtf18 C T 17: 25,942,491 (GRCm39) R449H probably damaging Het
Cit A G 5: 116,122,881 (GRCm39) H1384R possibly damaging Het
Cltc A G 11: 86,612,474 (GRCm39) I524T probably benign Het
Dctn1 T A 6: 83,160,042 (GRCm39) I94N probably damaging Het
Dnhd1 A T 7: 105,354,472 (GRCm39) D3078V probably damaging Het
Dock7 G A 4: 98,943,683 (GRCm39) P520S Het
Epb41l4a C A 18: 33,987,326 (GRCm39) K350N probably damaging Het
Eprs1 T A 1: 185,145,366 (GRCm39) Y1130N probably damaging Het
Fcgrt T C 7: 44,744,797 (GRCm39) T224A probably damaging Het
Flt1 T A 5: 147,637,177 (GRCm39) T39S probably benign Het
Fxyd1 T C 7: 30,752,896 (GRCm39) Y33C probably damaging Het
Gab2 T A 7: 96,950,633 (GRCm39) V442E probably damaging Het
Ganab A G 19: 8,892,076 (GRCm39) D800G probably benign Het
Gata4 C A 14: 63,478,186 (GRCm39) A138S probably benign Het
Golga4 A G 9: 118,385,131 (GRCm39) H751R possibly damaging Het
H1f6 A G 13: 23,880,455 (GRCm39) R203G possibly damaging Het
Htra4 A G 8: 25,527,093 (GRCm39) V234A possibly damaging Het
Igkv4-74 A T 6: 69,161,954 (GRCm39) Y72N probably damaging Het
Iqsec3 T C 6: 121,360,940 (GRCm39) K973E probably damaging Het
Khdc1b C A 1: 21,455,065 (GRCm39) T108K probably benign Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Kyat3 A G 3: 142,432,066 (GRCm39) probably null Het
Lrba T A 3: 86,225,474 (GRCm39) V666E probably damaging Het
Mettl25 T A 10: 105,601,871 (GRCm39) Y528F probably benign Het
Mms19 A T 19: 41,940,904 (GRCm39) Y619* probably null Het
Nol10 C T 12: 17,474,676 (GRCm39) L623F possibly damaging Het
Oas1g A G 5: 121,024,063 (GRCm39) F82S probably damaging Het
Or1j8 T G 2: 36,191,772 (GRCm39) S74A probably benign Het
Or5k3 C T 16: 58,969,570 (GRCm39) A119V probably damaging Het
Or8g18 G A 9: 39,149,546 (GRCm39) P58L probably benign Het
Oxr1 G A 15: 41,686,863 (GRCm39) E582K probably damaging Het
Pdia3 A G 2: 121,262,838 (GRCm39) D268G possibly damaging Het
Pramel13 T C 4: 144,119,434 (GRCm39) S378G probably damaging Het
Rcor3 A G 1: 191,786,078 (GRCm39) Y387H probably damaging Het
Rigi T A 4: 40,206,034 (GRCm39) I853F possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Rsl1 T C 13: 67,330,284 (GRCm39) L244P possibly damaging Het
Scn5a G T 9: 119,324,606 (GRCm39) N1407K probably damaging Het
Sdcbp C T 4: 6,378,985 (GRCm39) A24V probably benign Het
Slc22a8 A G 19: 8,571,323 (GRCm39) Y18C possibly damaging Het
Slc35d1 C T 4: 103,072,044 (GRCm39) R7H probably damaging Het
Slco6d1 A T 1: 98,425,248 (GRCm39) T599S probably damaging Het
Spata31d1e C T 13: 59,889,437 (GRCm39) M794I not run Het
St18 T A 1: 6,872,761 (GRCm39) H165Q probably benign Het
Sub1 C T 15: 11,986,589 (GRCm39) R86K probably damaging Het
Tectb G A 19: 55,181,104 (GRCm39) V148M Het
Tgfb2 C A 1: 186,362,954 (GRCm39) G290V possibly damaging Het
Tgm7 T C 2: 120,924,191 (GRCm39) H577R probably benign Het
Tle2 T C 10: 81,422,981 (GRCm39) S460P probably damaging Het
Tmem221 C A 8: 72,011,446 (GRCm39) R3L possibly damaging Het
Tnfrsf19 C A 14: 61,212,183 (GRCm39) V156L possibly damaging Het
Trav6-5 A G 14: 53,728,964 (GRCm39) K75E probably benign Het
Trip10 G A 17: 57,569,442 (GRCm39) G488S probably damaging Het
Usp34 A C 11: 23,399,268 (GRCm39) K2419T Het
Vps13d T C 4: 144,801,622 (GRCm39) Q3532R Het
Vps4a A T 8: 107,767,529 (GRCm39) I163L probably damaging Het
Wrn T C 8: 33,814,454 (GRCm39) H330R probably benign Het
Xpr1 T C 1: 155,188,618 (GRCm39) I341V probably benign Het
Zfyve9 T C 4: 108,548,973 (GRCm39) E105G probably benign 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
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
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'- ATCAAAGATTAAACCCTTGCCTTGG -3'
(R):5'- CCTCTAGGTTGGGCATTTGC -3'

Sequencing Primer
(F):5'- AGCCATCAGTCCAATTGGTG -3'
(R):5'- GCTTCAATGACTTGGGAG -3'
Posted On 2019-11-12