Incidental Mutation 'IGL02010:Nlrp3'
| ID |
183296 |
| 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 # |
IGL02010
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
59432395-59457781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59440361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 646
(D646G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079476]
[ENSMUST00000101148]
[ENSMUST00000149126]
|
| AlphaFold |
Q8R4B8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079476
AA Change: D646G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: D646G
| 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: ENSMUST00000101148
AA Change: D646G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: D646G
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,110,442 (GRCm39) |
D569G |
probably benign |
Het |
| Abhd17b |
C |
T |
19: 21,661,485 (GRCm39) |
T224I |
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,873,626 (GRCm39) |
S695R |
probably benign |
Het |
| Cdh6 |
A |
C |
15: 13,034,276 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
G |
T |
10: 100,344,569 (GRCm39) |
C462F |
probably benign |
Het |
| Cep290 |
T |
C |
10: 100,397,207 (GRCm39) |
S2156P |
probably benign |
Het |
| Cfap20dc |
A |
T |
14: 8,578,384 (GRCm38) |
H119Q |
possibly damaging |
Het |
| Cit |
T |
C |
5: 116,014,006 (GRCm39) |
F240L |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,512,416 (GRCm39) |
|
probably null |
Het |
| Ctcf |
T |
A |
8: 106,391,597 (GRCm39) |
H297Q |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,103,168 (GRCm39) |
|
probably null |
Het |
| Dhx37 |
T |
G |
5: 125,495,777 (GRCm39) |
T835P |
possibly damaging |
Het |
| Enc1 |
C |
T |
13: 97,381,588 (GRCm39) |
L33F |
possibly damaging |
Het |
| Epyc |
T |
A |
10: 97,485,563 (GRCm39) |
M1K |
probably null |
Het |
| F10 |
T |
C |
8: 13,098,292 (GRCm39) |
I165T |
probably damaging |
Het |
| Fam124a |
T |
C |
14: 62,824,728 (GRCm39) |
L74P |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,186,405 (GRCm39) |
S138G |
probably benign |
Het |
| Fam81a |
T |
C |
9: 70,006,419 (GRCm39) |
K198E |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,170,794 (GRCm39) |
Y2199C |
probably damaging |
Het |
| Fign |
A |
C |
2: 63,810,744 (GRCm39) |
S175R |
probably damaging |
Het |
| Grik1 |
T |
C |
16: 87,848,396 (GRCm39) |
N124S |
possibly damaging |
Het |
| Hdac9 |
G |
T |
12: 34,481,944 (GRCm39) |
L175M |
probably damaging |
Het |
| Hephl1 |
A |
C |
9: 15,001,852 (GRCm39) |
Y163* |
probably null |
Het |
| Hes1 |
G |
A |
16: 29,886,128 (GRCm39) |
G244D |
probably damaging |
Het |
| Hexb |
A |
G |
13: 97,313,353 (GRCm39) |
L501P |
probably benign |
Het |
| Igkv5-43 |
T |
C |
6: 69,752,936 (GRCm39) |
I49V |
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,170,789 (GRCm39) |
S491P |
probably benign |
Het |
| Jakmip2 |
C |
T |
18: 43,692,158 (GRCm39) |
|
probably null |
Het |
| Lrfn5 |
A |
G |
12: 61,886,469 (GRCm39) |
T86A |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,358,954 (GRCm39) |
T640A |
probably damaging |
Het |
| M6pr |
G |
T |
6: 122,292,085 (GRCm39) |
R139L |
possibly damaging |
Het |
| Myl9 |
A |
T |
2: 156,620,579 (GRCm39) |
N39Y |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,116,797 (GRCm39) |
M174L |
probably benign |
Het |
| Nnmt |
T |
A |
9: 48,503,331 (GRCm39) |
I232F |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,408,171 (GRCm39) |
T21A |
probably benign |
Het |
| Or5t15 |
C |
T |
2: 86,681,541 (GRCm39) |
C167Y |
possibly damaging |
Het |
| Or6c65 |
A |
G |
10: 129,604,136 (GRCm39) |
Y257C |
probably benign |
Het |
| Pcare |
T |
A |
17: 72,056,459 (GRCm39) |
T1073S |
probably benign |
Het |
| Pcdh7 |
T |
G |
5: 58,286,597 (GRCm39) |
N1224K |
probably benign |
Het |
| Pde4a |
T |
C |
9: 21,114,850 (GRCm39) |
|
probably null |
Het |
| Pfkfb3 |
T |
C |
2: 11,488,805 (GRCm39) |
T320A |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,364,730 (GRCm39) |
|
probably benign |
Het |
| Rabgap1l |
C |
T |
1: 160,299,641 (GRCm39) |
R584H |
probably damaging |
Het |
| Rnf157 |
T |
A |
11: 116,287,052 (GRCm39) |
N57I |
probably damaging |
Het |
| Rtf1 |
G |
A |
2: 119,531,747 (GRCm39) |
|
probably null |
Het |
| Sap130 |
C |
A |
18: 31,782,655 (GRCm39) |
R189S |
probably damaging |
Het |
| Slc34a1 |
T |
G |
13: 24,003,025 (GRCm39) |
V225G |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,785,369 (GRCm39) |
|
probably benign |
Het |
| Tecta |
G |
A |
9: 42,248,489 (GRCm39) |
T1971I |
probably damaging |
Het |
| Tlcd5 |
A |
T |
9: 43,022,859 (GRCm39) |
V165E |
probably damaging |
Het |
| Tmem263 |
T |
A |
10: 84,950,274 (GRCm39) |
S22T |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,773,049 (GRCm39) |
F410L |
unknown |
Het |
| Ttc27 |
T |
G |
17: 75,087,906 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,668 (GRCm39) |
C101S |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,112,738 (GRCm39) |
K781E |
probably damaging |
Het |
| Xkr6 |
C |
T |
14: 64,056,653 (GRCm39) |
T188M |
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 |
|
IGL01637:Nlrp3
|
APN |
11 |
59,440,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-05-07 |
Incidental Mutation