Incidental Mutation 'R7349:Nlrp3'
ID |
570441 |
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 |
045435-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R7349 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
59432395-59457781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 59438912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 163
(R163H)
|
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: R163H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078440 Gene: ENSMUSG00000032691 AA Change: R163H
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: R163H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098707 Gene: ENSMUSG00000032691 AA Change: R163H
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: R163H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114231 Gene: ENSMUSG00000032691 AA Change: R163H
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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (70/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
T |
A |
13: 60,990,717 (GRCm39) |
T326S |
possibly damaging |
Het |
Acly |
A |
T |
11: 100,412,817 (GRCm39) |
H91Q |
probably benign |
Het |
Acp3 |
T |
A |
9: 104,168,657 (GRCm39) |
I403F |
probably benign |
Het |
Angpt2 |
T |
A |
8: 18,742,090 (GRCm39) |
M489L |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,039,435 (GRCm39) |
I565T |
possibly damaging |
Het |
Atg16l2 |
T |
C |
7: 100,939,473 (GRCm39) |
D563G |
probably damaging |
Het |
Atp6v0a2 |
T |
A |
5: 124,789,392 (GRCm39) |
Y386* |
probably null |
Het |
Atp8b4 |
A |
G |
2: 126,167,265 (GRCm39) |
V1078A |
probably benign |
Het |
Bsn |
T |
C |
9: 107,987,982 (GRCm39) |
D2590G |
unknown |
Het |
Casp12 |
T |
C |
9: 5,345,527 (GRCm39) |
|
probably null |
Het |
Ccdc87 |
T |
C |
19: 4,891,868 (GRCm39) |
S787P |
probably damaging |
Het |
Cdh13 |
A |
G |
8: 119,969,097 (GRCm39) |
T485A |
probably damaging |
Het |
Cstdc5 |
A |
G |
16: 36,184,674 (GRCm39) |
V23A |
probably damaging |
Het |
Dip2a |
T |
C |
10: 76,121,426 (GRCm39) |
H810R |
probably damaging |
Het |
Dmbt1 |
A |
T |
7: 130,642,854 (GRCm39) |
Y120F |
unknown |
Het |
Dmgdh |
C |
T |
13: 93,888,741 (GRCm39) |
T793I |
possibly damaging |
Het |
Dnhd1 |
A |
G |
7: 105,359,330 (GRCm39) |
D3555G |
probably damaging |
Het |
Eif4e1b |
T |
C |
13: 54,932,006 (GRCm39) |
V30A |
probably benign |
Het |
Ercc5 |
T |
G |
1: 44,220,068 (GRCm39) |
D1113E |
possibly damaging |
Het |
Fbn1 |
T |
C |
2: 125,157,321 (GRCm39) |
N2321D |
possibly damaging |
Het |
Fbrs |
T |
C |
7: 127,081,971 (GRCm39) |
L237P |
probably damaging |
Het |
Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
Ftsj3 |
G |
A |
11: 106,140,572 (GRCm39) |
T761I |
probably damaging |
Het |
Gdi2 |
C |
A |
13: 3,606,395 (GRCm39) |
T157N |
probably benign |
Het |
Gm8122 |
C |
A |
14: 43,088,058 (GRCm39) |
|
probably null |
Het |
Gtpbp10 |
T |
C |
5: 5,605,379 (GRCm39) |
E108G |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,448,726 (GRCm39) |
L358P |
probably damaging |
Het |
Herc3 |
T |
C |
6: 58,835,971 (GRCm39) |
C271R |
probably benign |
Het |
Hspb1 |
C |
T |
5: 135,918,187 (GRCm39) |
T178M |
possibly damaging |
Het |
Htr3b |
C |
T |
9: 48,847,319 (GRCm39) |
V399M |
probably benign |
Het |
Hydin |
A |
G |
8: 111,124,803 (GRCm39) |
|
probably null |
Het |
Itpr3 |
T |
A |
17: 27,326,786 (GRCm39) |
|
probably null |
Het |
Iyd |
G |
T |
10: 3,495,638 (GRCm39) |
V99F |
possibly damaging |
Het |
Lrrc36 |
G |
A |
8: 106,178,900 (GRCm39) |
G365D |
probably damaging |
Het |
Map1b |
T |
A |
13: 99,570,148 (GRCm39) |
I858F |
unknown |
Het |
Med12l |
A |
T |
3: 59,165,746 (GRCm39) |
D1488V |
probably damaging |
Het |
Ms4a6c |
T |
A |
19: 11,455,555 (GRCm39) |
N121K |
probably damaging |
Het |
Nlrp1b |
T |
G |
11: 71,072,943 (GRCm39) |
Q300P |
probably benign |
Het |
Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
Optc |
T |
G |
1: 133,825,617 (GRCm39) |
D356A |
probably damaging |
Het |
Or52h7 |
A |
G |
7: 104,213,857 (GRCm39) |
H143R |
probably benign |
Het |
Or9s15 |
T |
C |
1: 92,524,904 (GRCm39) |
V221A |
possibly damaging |
Het |
Pdzd2 |
C |
G |
15: 12,399,291 (GRCm39) |
V812L |
probably damaging |
Het |
Phlpp2 |
T |
C |
8: 110,655,278 (GRCm39) |
F691S |
probably damaging |
Het |
Pigk |
T |
C |
3: 152,453,238 (GRCm39) |
F319L |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,378,350 (GRCm39) |
T1035A |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,611,339 (GRCm39) |
T261A |
probably benign |
Het |
Plekhm1 |
A |
G |
11: 103,278,160 (GRCm39) |
F312S |
probably damaging |
Het |
Pms2 |
T |
A |
5: 143,862,654 (GRCm39) |
I587N |
probably benign |
Het |
Ppl |
T |
A |
16: 4,922,593 (GRCm39) |
H272L |
probably damaging |
Het |
Prkce |
G |
A |
17: 86,800,783 (GRCm39) |
A400T |
probably benign |
Het |
Ptpn9 |
T |
C |
9: 56,951,660 (GRCm39) |
S324P |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,468,834 (GRCm39) |
N1432I |
possibly damaging |
Het |
R3hdm2 |
T |
C |
10: 127,328,515 (GRCm39) |
S746P |
probably benign |
Het |
Rnf220 |
G |
A |
4: 117,135,015 (GRCm39) |
A412V |
probably damaging |
Het |
Scel |
G |
A |
14: 103,781,315 (GRCm39) |
A154T |
probably benign |
Het |
Sirpb1a |
A |
T |
3: 15,475,664 (GRCm39) |
N290K |
probably damaging |
Het |
Sirpb1c |
A |
T |
3: 15,886,310 (GRCm39) |
|
probably null |
Het |
Sorbs2 |
A |
T |
8: 46,248,860 (GRCm39) |
R704* |
probably null |
Het |
Spast |
T |
C |
17: 74,680,319 (GRCm39) |
V427A |
probably damaging |
Het |
Stxbp4 |
A |
T |
11: 90,482,937 (GRCm39) |
|
probably null |
Het |
Thsd7a |
C |
A |
6: 12,352,067 (GRCm39) |
G1043C |
|
Het |
Tmem205 |
C |
T |
9: 21,832,410 (GRCm39) |
C167Y |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,608,718 (GRCm39) |
L897* |
probably null |
Het |
Trim36 |
A |
G |
18: 46,302,495 (GRCm39) |
F518L |
probably benign |
Het |
Ttc12 |
T |
G |
9: 49,359,267 (GRCm39) |
T402P |
possibly damaging |
Het |
Twnk |
T |
C |
19: 44,998,600 (GRCm39) |
V506A |
possibly damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,485,682 (GRCm39) |
L604* |
probably null |
Het |
Wdr83 |
T |
C |
8: 85,806,460 (GRCm39) |
N113D |
possibly damaging |
Het |
Zfp628 |
G |
A |
7: 4,924,817 (GRCm39) |
G1013E |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCGCTAGCAGCTTATTGTTG -3'
(R):5'- CCAGTCCAACATAATCTTCCTGG -3'
Sequencing Primer
(F):5'- CTAGCAGCTTATTGTTGGGGAATG -3'
(R):5'- AGTCCAACATAATCTTCCTGGCTAGG -3'
|
Posted On |
2019-09-13 |