Incidental Mutation 'IGL01637:Nlrp3'
| ID |
93047 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nlrp3
|
| Ensembl Gene |
ENSMUSG00000032691 |
| Gene Name |
NLR family, pyrin domain containing 3 |
| Synonyms |
Mmig1, Cias1, NALP3, cryopyrin, Pypaf1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL01637
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
59432395-59457781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 59440204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 594
(L594I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079476]
[ENSMUST00000101148]
[ENSMUST00000149126]
|
| AlphaFold |
Q8R4B8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079476
AA Change: L594I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: L594I
| 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: L594I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: L594I
| 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 benign
Transcript: ENSMUST00000149126
|
| SMART Domains |
Protein: ENSMUSP00000114231
Gene: ENSMUSG00000032691
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
4 |
87 |
6.39e-33 |
SMART |
|
Pfam:FISNA
|
135 |
173 |
1.6e-12 |
PFAM |
|
| 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 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
T |
7: 28,604,109 (GRCm39) |
I384N |
probably damaging |
Het |
| Adsl |
G |
T |
15: 80,832,901 (GRCm39) |
Q51H |
probably null |
Het |
| Apcdd1 |
A |
G |
18: 63,070,357 (GRCm39) |
E208G |
probably damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,394,580 (GRCm39) |
R155* |
probably null |
Het |
| Atp9b |
T |
C |
18: 80,799,670 (GRCm39) |
E823G |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,729,901 (GRCm39) |
W468R |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,789,399 (GRCm39) |
I281M |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,824,078 (GRCm39) |
T1392A |
probably benign |
Het |
| Dhx34 |
G |
T |
7: 15,939,398 (GRCm39) |
S665Y |
probably damaging |
Het |
| Dock1 |
A |
T |
7: 134,739,542 (GRCm39) |
|
probably null |
Het |
| Dpp7 |
T |
C |
2: 25,244,625 (GRCm39) |
N252S |
probably benign |
Het |
| Dyrk2 |
A |
G |
10: 118,696,412 (GRCm39) |
V282A |
probably damaging |
Het |
| Edrf1 |
T |
C |
7: 133,252,254 (GRCm39) |
L401P |
probably damaging |
Het |
| Epc1 |
A |
G |
18: 6,439,724 (GRCm39) |
V150A |
probably benign |
Het |
| Fam170a |
A |
T |
18: 50,414,734 (GRCm39) |
M127L |
possibly damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,934,548 (GRCm39) |
T277S |
probably damaging |
Het |
| Galntl5 |
T |
C |
5: 25,394,823 (GRCm39) |
|
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,304,073 (GRCm39) |
N56S |
probably damaging |
Het |
| Gfm2 |
T |
A |
13: 97,286,917 (GRCm39) |
V172E |
probably damaging |
Het |
| Gm10419 |
T |
C |
5: 108,520,224 (GRCm39) |
|
probably benign |
Het |
| Gm7293 |
A |
G |
9: 51,534,906 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm3 |
T |
C |
3: 107,874,949 (GRCm39) |
E101G |
probably damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,413,856 (GRCm39) |
W2R |
possibly damaging |
Het |
| Ighv13-1 |
A |
T |
12: 114,231,353 (GRCm39) |
|
probably benign |
Het |
| Ighv7-1 |
T |
A |
12: 113,860,123 (GRCm39) |
I90F |
possibly damaging |
Het |
| Itga2b |
A |
G |
11: 102,346,409 (GRCm39) |
L1009P |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,967,575 (GRCm39) |
V1112A |
possibly damaging |
Het |
| Kif5a |
A |
T |
10: 127,081,237 (GRCm39) |
D232E |
possibly damaging |
Het |
| Klb |
G |
A |
5: 65,533,022 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
G |
A |
10: 103,051,489 (GRCm39) |
A421V |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,058,845 (GRCm39) |
R721C |
probably damaging |
Het |
| Mrpl48 |
G |
T |
7: 100,199,739 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
A |
5: 112,988,495 (GRCm39) |
R1030S |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,946 (GRCm39) |
H2101Q |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,053,376 (GRCm39) |
T2013I |
probably damaging |
Het |
| Or2ah1 |
A |
T |
2: 85,653,332 (GRCm39) |
T6S |
probably benign |
Het |
| Or2y3 |
G |
A |
17: 38,392,994 (GRCm39) |
L292F |
possibly damaging |
Het |
| Or52s1 |
C |
A |
7: 102,861,384 (GRCm39) |
R95S |
probably benign |
Het |
| Or6c216 |
A |
G |
10: 129,678,479 (GRCm39) |
L144P |
probably benign |
Het |
| Or7g27 |
T |
C |
9: 19,250,260 (GRCm39) |
F168S |
probably damaging |
Het |
| Panx3 |
T |
C |
9: 37,575,352 (GRCm39) |
D170G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,590,048 (GRCm39) |
S783G |
unknown |
Het |
| Pde3b |
T |
A |
7: 114,126,136 (GRCm39) |
L790* |
probably null |
Het |
| Pik3r2 |
T |
C |
8: 71,224,992 (GRCm39) |
|
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,618,651 (GRCm39) |
F211L |
probably damaging |
Het |
| Rbl2 |
C |
T |
8: 91,833,066 (GRCm39) |
P666S |
probably benign |
Het |
| Rnf123 |
A |
G |
9: 107,935,437 (GRCm39) |
F979L |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,015,172 (GRCm39) |
D788E |
probably benign |
Het |
| Serpina3b |
A |
G |
12: 104,099,216 (GRCm39) |
T244A |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,286,576 (GRCm39) |
S541P |
unknown |
Het |
| Slc12a4 |
T |
C |
8: 106,687,339 (GRCm39) |
D60G |
possibly damaging |
Het |
| Stac2 |
T |
C |
11: 97,932,180 (GRCm39) |
E241G |
probably benign |
Het |
| Tafa3 |
C |
T |
3: 104,680,395 (GRCm39) |
V75M |
probably damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,592 (GRCm39) |
Y120H |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,205,946 (GRCm39) |
F450I |
probably benign |
Het |
| Txnl1 |
A |
T |
18: 63,807,262 (GRCm39) |
I198N |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,267,580 (GRCm39) |
M1049K |
probably damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,287,759 (GRCm39) |
E136G |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,241,066 (GRCm39) |
T3623I |
probably damaging |
Het |
| Usp13 |
T |
A |
3: 32,973,213 (GRCm39) |
S797T |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,373 (GRCm39) |
T203S |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,622,699 (GRCm39) |
I1718N |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,159,732 (GRCm39) |
H676R |
probably benign |
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 |
|
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 |
|
R9324:Nlrp3
|
UTSW |
11 |
59,434,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation