Incidental Mutation 'R9324:Nlrp3'
ID |
706398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp3
|
Ensembl Gene |
ENSMUSG00000032691 |
Gene Name |
NLR family, pyrin domain containing 3 |
Synonyms |
Mmig1, Cias1, NALP3, cryopyrin, Pypaf1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R9324 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
59432395-59457781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59434141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 68
(M68K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078440
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079476]
[ENSMUST00000101148]
[ENSMUST00000149126]
|
AlphaFold |
Q8R4B8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079476
AA Change: M68K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078440 Gene: ENSMUSG00000032691 AA Change: M68K
Domain | Start | End | E-Value | Type |
PYRIN
|
4 |
87 |
6.39e-33 |
SMART |
FISNA
|
135 |
206 |
1.45e-22 |
SMART |
Pfam:NACHT
|
216 |
385 |
6.7e-52 |
PFAM |
low complexity region
|
533 |
539 |
N/A |
INTRINSIC |
low complexity region
|
688 |
697 |
N/A |
INTRINSIC |
LRR_RI
|
737 |
764 |
1.07e-9 |
SMART |
LRR
|
766 |
793 |
5.13e1 |
SMART |
LRR
|
794 |
821 |
3.86e-7 |
SMART |
LRR
|
823 |
850 |
1.62e0 |
SMART |
LRR
|
851 |
878 |
3.39e-3 |
SMART |
LRR
|
880 |
907 |
1.2e2 |
SMART |
LRR
|
908 |
935 |
2.24e-3 |
SMART |
LRR
|
937 |
964 |
2.16e2 |
SMART |
LRR
|
965 |
992 |
8.73e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101148
AA Change: M68K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098707 Gene: ENSMUSG00000032691 AA Change: M68K
Domain | Start | End | E-Value | Type |
PYRIN
|
4 |
87 |
6.39e-33 |
SMART |
FISNA
|
135 |
206 |
1.45e-22 |
SMART |
Pfam:NACHT
|
216 |
385 |
6.7e-52 |
PFAM |
low complexity region
|
533 |
539 |
N/A |
INTRINSIC |
low complexity region
|
688 |
697 |
N/A |
INTRINSIC |
LRR_RI
|
737 |
764 |
1.07e-9 |
SMART |
LRR
|
766 |
793 |
5.13e1 |
SMART |
LRR
|
794 |
821 |
3.86e-7 |
SMART |
LRR
|
823 |
850 |
1.62e0 |
SMART |
LRR
|
851 |
878 |
3.39e-3 |
SMART |
LRR
|
880 |
907 |
1.2e2 |
SMART |
LRR
|
908 |
935 |
2.24e-3 |
SMART |
LRR
|
937 |
964 |
2.16e2 |
SMART |
LRR
|
965 |
992 |
8.73e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149126
AA Change: M68K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114231 Gene: ENSMUSG00000032691 AA Change: M68K
Domain | Start | End | E-Value | Type |
PYRIN
|
4 |
87 |
6.39e-33 |
SMART |
Pfam:FISNA
|
135 |
173 |
1.6e-12 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008] PHENOTYPE: Mice homozygous for null mutations exhibit attenuated inflammatory responses related to decrease secretion of IL-1beta and IL-18. Mice heterozygous for activating mutations suffer from autoinflammatory attacks that lead to organ failure and death before weaning. [provided by MGI curators]
|
Allele List at MGI |
All alleles(13) : Targeted(9) Chemically induced(4)
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
A |
G |
7: 119,179,856 (GRCm39) |
H358R |
probably benign |
Het |
Arid3c |
A |
G |
4: 41,730,138 (GRCm39) |
L19S |
possibly damaging |
Het |
Arpp21 |
T |
A |
9: 111,986,765 (GRCm39) |
D262V |
probably damaging |
Het |
Atp4a |
A |
C |
7: 30,415,207 (GRCm39) |
I276L |
probably benign |
Het |
Axl |
C |
G |
7: 25,460,982 (GRCm39) |
E676Q |
probably damaging |
Het |
Ces1g |
T |
C |
8: 94,055,118 (GRCm39) |
D193G |
probably damaging |
Het |
Crym |
A |
G |
7: 119,789,005 (GRCm39) |
V274A |
probably damaging |
Het |
Efcab5 |
T |
A |
11: 77,004,546 (GRCm39) |
H924L |
possibly damaging |
Het |
Eif1ad7 |
T |
A |
12: 88,238,709 (GRCm39) |
N17I |
unknown |
Het |
Eif3l |
T |
A |
15: 78,978,423 (GRCm39) |
M560K |
probably benign |
Het |
Fam234b |
C |
A |
6: 135,202,793 (GRCm39) |
Y382* |
probably null |
Het |
Fbxw19 |
T |
C |
9: 109,313,440 (GRCm39) |
K253E |
possibly damaging |
Het |
Fhip1a |
T |
C |
3: 85,638,053 (GRCm39) |
D82G |
probably benign |
Het |
Flt3 |
A |
G |
5: 147,313,790 (GRCm39) |
S87P |
probably benign |
Het |
Garin3 |
A |
T |
11: 46,295,810 (GRCm39) |
I61F |
|
Het |
Ggnbp2 |
A |
G |
11: 84,725,174 (GRCm39) |
L627S |
probably damaging |
Het |
Gm26661 |
T |
G |
14: 7,791,765 (GRCm38) |
V60G |
unknown |
Het |
Golt1a |
T |
C |
1: 133,247,094 (GRCm39) |
L34P |
probably damaging |
Het |
Gp5 |
T |
C |
16: 30,127,808 (GRCm39) |
M289V |
possibly damaging |
Het |
Gpr63 |
C |
G |
4: 25,008,432 (GRCm39) |
H385Q |
possibly damaging |
Het |
Hcn1 |
G |
A |
13: 118,111,901 (GRCm39) |
V622I |
unknown |
Het |
Hipk4 |
A |
G |
7: 27,228,834 (GRCm39) |
D428G |
probably damaging |
Het |
Hs3st1 |
T |
C |
5: 39,772,145 (GRCm39) |
Y166C |
probably damaging |
Het |
Hsd17b3 |
A |
G |
13: 64,206,459 (GRCm39) |
F281S |
possibly damaging |
Het |
Ifih1 |
T |
C |
2: 62,475,950 (GRCm39) |
T109A |
probably benign |
Het |
Ighv1-64 |
T |
A |
12: 115,471,645 (GRCm39) |
|
probably benign |
Het |
Ina |
T |
C |
19: 47,003,816 (GRCm39) |
L208P |
|
Het |
Iqcn |
C |
T |
8: 71,161,794 (GRCm39) |
T329I |
possibly damaging |
Het |
Irak2 |
T |
C |
6: 113,615,604 (GRCm39) |
|
probably null |
Het |
Klhl10 |
G |
A |
11: 100,338,481 (GRCm39) |
E407K |
probably benign |
Het |
Krt81 |
A |
G |
15: 101,361,335 (GRCm39) |
S82P |
probably damaging |
Het |
Ktn1 |
C |
A |
14: 47,948,353 (GRCm39) |
Q963K |
probably benign |
Het |
Lgalsl2 |
G |
A |
7: 5,362,527 (GRCm39) |
V53I |
possibly damaging |
Het |
Lrrc42 |
A |
T |
4: 107,104,913 (GRCm39) |
Y17* |
probably null |
Het |
Lrrc9 |
A |
C |
12: 72,496,171 (GRCm39) |
E15D |
probably damaging |
Het |
Mak |
G |
A |
13: 41,202,839 (GRCm39) |
T203I |
probably benign |
Het |
Masp2 |
T |
C |
4: 148,692,485 (GRCm39) |
V326A |
possibly damaging |
Het |
Mdc1 |
T |
C |
17: 36,164,258 (GRCm39) |
S1269P |
probably benign |
Het |
Mink1 |
G |
A |
11: 70,502,477 (GRCm39) |
V1027M |
probably damaging |
Het |
Mrps10 |
C |
A |
17: 47,686,903 (GRCm39) |
S123* |
probably null |
Het |
Myl10 |
C |
T |
5: 136,729,787 (GRCm39) |
H142Y |
probably damaging |
Het |
Ncan |
T |
C |
8: 70,560,648 (GRCm39) |
Q773R |
possibly damaging |
Het |
Ntrk1 |
C |
T |
3: 87,698,745 (GRCm39) |
V99M |
possibly damaging |
Het |
Odad3 |
T |
C |
9: 21,903,207 (GRCm39) |
E402G |
probably damaging |
Het |
Or4p22 |
C |
T |
2: 88,317,787 (GRCm39) |
T237I |
probably damaging |
Het |
Or5an1 |
A |
G |
19: 12,260,939 (GRCm39) |
R176G |
probably benign |
Het |
Or8c8 |
A |
G |
9: 38,164,962 (GRCm39) |
K80R |
probably benign |
Het |
Phldb2 |
A |
G |
16: 45,595,437 (GRCm39) |
V830A |
probably damaging |
Het |
Phospho2 |
T |
C |
2: 69,625,913 (GRCm39) |
V23A |
probably damaging |
Het |
Plxnc1 |
G |
A |
10: 94,780,685 (GRCm39) |
|
probably benign |
Het |
Ppcdc |
T |
C |
9: 57,342,280 (GRCm39) |
E14G |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,302,645 (GRCm39) |
Y106C |
probably damaging |
Het |
Rgs22 |
T |
C |
15: 36,087,544 (GRCm39) |
Q582R |
probably benign |
Het |
Rngtt |
T |
A |
4: 33,320,613 (GRCm39) |
Y53* |
probably null |
Het |
Slc12a3 |
T |
G |
8: 95,083,028 (GRCm39) |
|
probably null |
Het |
Slc26a11 |
A |
G |
11: 119,267,730 (GRCm39) |
T456A |
probably benign |
Het |
Slc26a5 |
G |
T |
5: 22,018,334 (GRCm39) |
A677E |
possibly damaging |
Het |
Smurf1 |
T |
C |
5: 144,817,463 (GRCm39) |
T690A |
probably benign |
Het |
Spata24 |
A |
T |
18: 35,790,064 (GRCm39) |
N142K |
probably damaging |
Het |
Ubqlnl |
A |
T |
7: 103,798,962 (GRCm39) |
N178K |
possibly damaging |
Het |
Uggt2 |
A |
G |
14: 119,312,741 (GRCm39) |
|
probably null |
Het |
Vmn1r2 |
C |
A |
4: 3,172,678 (GRCm39) |
A199D |
probably damaging |
Het |
Vmn2r39 |
T |
C |
7: 9,030,684 (GRCm39) |
N128S |
probably damaging |
Het |
Vmn2r61 |
G |
T |
7: 41,916,619 (GRCm39) |
V411F |
probably benign |
Het |
Vmn2r-ps117 |
T |
A |
17: 19,042,911 (GRCm39) |
F106L |
probably benign |
Het |
Zfp503 |
A |
T |
14: 22,035,353 (GRCm39) |
I521N |
possibly damaging |
Het |
Zfp831 |
T |
C |
2: 174,547,113 (GRCm39) |
V1432A |
probably benign |
Het |
Zfp981 |
T |
A |
4: 146,619,884 (GRCm39) |
L13I |
possibly damaging |
Het |
|
Other mutations in Nlrp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00421:Nlrp3
|
APN |
11 |
59,456,769 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00573:Nlrp3
|
APN |
11 |
59,455,942 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01025:Nlrp3
|
APN |
11 |
59,442,713 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01637:Nlrp3
|
APN |
11 |
59,440,204 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02010:Nlrp3
|
APN |
11 |
59,440,361 (GRCm39) |
missense |
probably benign |
|
IGL02334:Nlrp3
|
APN |
11 |
59,455,909 (GRCm39) |
missense |
probably benign |
|
IGL02417:Nlrp3
|
APN |
11 |
59,456,849 (GRCm39) |
unclassified |
probably benign |
|
IGL02578:Nlrp3
|
APN |
11 |
59,439,227 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02710:Nlrp3
|
APN |
11 |
59,456,802 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02816:Nlrp3
|
APN |
11 |
59,446,608 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03157:Nlrp3
|
APN |
11 |
59,440,372 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL03334:Nlrp3
|
APN |
11 |
59,439,842 (GRCm39) |
missense |
probably damaging |
1.00 |
Flogiston
|
UTSW |
11 |
59,449,274 (GRCm39) |
missense |
probably benign |
0.00 |
nd1
|
UTSW |
11 |
59,456,800 (GRCm39) |
missense |
probably benign |
0.45 |
Nd14
|
UTSW |
11 |
59,446,701 (GRCm39) |
missense |
possibly damaging |
0.89 |
Nd3
|
UTSW |
11 |
59,456,800 (GRCm39) |
missense |
probably benign |
0.45 |
nd5
|
UTSW |
11 |
59,456,705 (GRCm39) |
missense |
probably benign |
0.01 |
nd6
|
UTSW |
11 |
59,440,180 (GRCm39) |
missense |
probably damaging |
1.00 |
nd7
|
UTSW |
11 |
59,446,701 (GRCm39) |
missense |
possibly damaging |
0.89 |
Nd9
|
UTSW |
11 |
59,440,180 (GRCm39) |
missense |
probably damaging |
1.00 |
Park2
|
UTSW |
11 |
59,455,954 (GRCm39) |
nonsense |
probably null |
|
Park3
|
UTSW |
11 |
59,456,676 (GRCm39) |
missense |
probably benign |
0.02 |
Park4
|
UTSW |
11 |
59,440,357 (GRCm39) |
missense |
probably benign |
0.19 |
Park5
|
UTSW |
11 |
59,439,302 (GRCm39) |
missense |
probably damaging |
0.99 |
Park6
|
UTSW |
11 |
59,439,862 (GRCm39) |
missense |
probably damaging |
1.00 |
Park7
|
UTSW |
11 |
59,438,836 (GRCm39) |
nonsense |
probably null |
|
Park8
|
UTSW |
11 |
59,457,025 (GRCm39) |
missense |
probably benign |
0.19 |
R0008:Nlrp3
|
UTSW |
11 |
59,449,274 (GRCm39) |
missense |
probably benign |
0.00 |
R0008:Nlrp3
|
UTSW |
11 |
59,449,274 (GRCm39) |
missense |
probably benign |
0.00 |
R0052:Nlrp3
|
UTSW |
11 |
59,455,954 (GRCm39) |
nonsense |
probably null |
|
R0362:Nlrp3
|
UTSW |
11 |
59,439,623 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0416:Nlrp3
|
UTSW |
11 |
59,446,750 (GRCm39) |
splice site |
probably benign |
|
R0649:Nlrp3
|
UTSW |
11 |
59,439,368 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0740:Nlrp3
|
UTSW |
11 |
59,439,082 (GRCm39) |
missense |
probably benign |
0.01 |
R0863:Nlrp3
|
UTSW |
11 |
59,456,676 (GRCm39) |
missense |
probably benign |
0.02 |
R1300:Nlrp3
|
UTSW |
11 |
59,446,594 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1414:Nlrp3
|
UTSW |
11 |
59,440,357 (GRCm39) |
missense |
probably benign |
0.19 |
R1622:Nlrp3
|
UTSW |
11 |
59,439,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R1654:Nlrp3
|
UTSW |
11 |
59,433,949 (GRCm39) |
missense |
probably benign |
0.03 |
R1715:Nlrp3
|
UTSW |
11 |
59,434,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R1754:Nlrp3
|
UTSW |
11 |
59,449,228 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1837:Nlrp3
|
UTSW |
11 |
59,439,742 (GRCm39) |
missense |
probably benign |
0.00 |
R1905:Nlrp3
|
UTSW |
11 |
59,439,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R2281:Nlrp3
|
UTSW |
11 |
59,439,962 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4296:Nlrp3
|
UTSW |
11 |
59,440,487 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4305:Nlrp3
|
UTSW |
11 |
59,438,836 (GRCm39) |
nonsense |
probably null |
|
R4540:Nlrp3
|
UTSW |
11 |
59,442,725 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4591:Nlrp3
|
UTSW |
11 |
59,440,048 (GRCm39) |
missense |
probably benign |
0.00 |
R4816:Nlrp3
|
UTSW |
11 |
59,439,127 (GRCm39) |
missense |
probably benign |
0.32 |
R4913:Nlrp3
|
UTSW |
11 |
59,440,064 (GRCm39) |
missense |
probably benign |
0.09 |
R4970:Nlrp3
|
UTSW |
11 |
59,439,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R5051:Nlrp3
|
UTSW |
11 |
59,457,025 (GRCm39) |
missense |
probably benign |
0.19 |
R5112:Nlrp3
|
UTSW |
11 |
59,439,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R5185:Nlrp3
|
UTSW |
11 |
59,455,910 (GRCm39) |
missense |
probably benign |
0.05 |
R5417:Nlrp3
|
UTSW |
11 |
59,439,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R5709:Nlrp3
|
UTSW |
11 |
59,446,574 (GRCm39) |
nonsense |
probably null |
|
R5869:Nlrp3
|
UTSW |
11 |
59,438,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R5898:Nlrp3
|
UTSW |
11 |
59,437,678 (GRCm39) |
missense |
probably benign |
0.00 |
R5953:Nlrp3
|
UTSW |
11 |
59,437,617 (GRCm39) |
missense |
probably benign |
|
R5979:Nlrp3
|
UTSW |
11 |
59,439,797 (GRCm39) |
missense |
probably benign |
0.06 |
R6359:Nlrp3
|
UTSW |
11 |
59,439,392 (GRCm39) |
missense |
probably damaging |
0.97 |
R6723:Nlrp3
|
UTSW |
11 |
59,456,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R7261:Nlrp3
|
UTSW |
11 |
59,439,272 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7349:Nlrp3
|
UTSW |
11 |
59,438,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R7388:Nlrp3
|
UTSW |
11 |
59,455,892 (GRCm39) |
missense |
probably benign |
0.00 |
R7715:Nlrp3
|
UTSW |
11 |
59,433,829 (GRCm39) |
splice site |
probably null |
|
R7916:Nlrp3
|
UTSW |
11 |
59,442,689 (GRCm39) |
missense |
probably benign |
0.00 |
R8222:Nlrp3
|
UTSW |
11 |
59,439,614 (GRCm39) |
missense |
probably damaging |
0.98 |
R8360:Nlrp3
|
UTSW |
11 |
59,440,229 (GRCm39) |
missense |
probably benign |
0.02 |
R8390:Nlrp3
|
UTSW |
11 |
59,442,616 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8550:Nlrp3
|
UTSW |
11 |
59,440,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R8738:Nlrp3
|
UTSW |
11 |
59,440,216 (GRCm39) |
missense |
probably benign |
0.00 |
R8940:Nlrp3
|
UTSW |
11 |
59,455,870 (GRCm39) |
missense |
probably benign |
0.26 |
R8990:Nlrp3
|
UTSW |
11 |
59,439,584 (GRCm39) |
missense |
probably damaging |
0.99 |
R9673:Nlrp3
|
UTSW |
11 |
59,440,148 (GRCm39) |
missense |
probably damaging |
1.00 |
RF031:Nlrp3
|
UTSW |
11 |
59,449,378 (GRCm39) |
frame shift |
probably null |
|
RF040:Nlrp3
|
UTSW |
11 |
59,449,378 (GRCm39) |
frame shift |
probably null |
|
Z1088:Nlrp3
|
UTSW |
11 |
59,442,686 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAGAGGACCTTGAAGATGTGG -3'
(R):5'- AGCCTGGGATACTTGAGACTC -3'
Sequencing Primer
(F):5'- GACCTTGAAGATGTGGACCTC -3'
(R):5'- TTATGCTAAGTGAAGTAAGCCAGCC -3'
|
Posted On |
2022-04-18 |