Incidental Mutation 'R0863:Nlrp3'
ID |
82208 |
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 |
039037-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R0863 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
59432395-59457781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59456676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 946
(D946G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071943]
[ENSMUST00000079476]
[ENSMUST00000101148]
[ENSMUST00000214351]
[ENSMUST00000215339]
|
AlphaFold |
Q8R4B8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071943
|
SMART Domains |
Protein: ENSMUSP00000071835 Gene: ENSMUSG00000059610
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srv
|
29 |
311 |
4.3e-9 |
PFAM |
Pfam:7tm_4
|
35 |
312 |
3.4e-54 |
PFAM |
Pfam:7tm_1
|
45 |
294 |
1.3e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079476
AA Change: D946G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000078440 Gene: ENSMUSG00000032691 AA Change: D946G
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: D946G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000098707 Gene: ENSMUSG00000032691 AA Change: D946G
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: ENSMUST00000214351
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215339
|
Meta Mutation Damage Score |
0.3192 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
94% (59/63) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310016G11Rik |
A |
G |
7: 44,327,232 (GRCm39) |
|
noncoding transcript |
Het |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Abca14 |
A |
T |
7: 119,815,453 (GRCm39) |
T234S |
probably benign |
Het |
Acap1 |
C |
A |
11: 69,777,882 (GRCm39) |
V119L |
probably damaging |
Het |
Actr2 |
C |
T |
11: 20,030,760 (GRCm39) |
V163I |
probably benign |
Het |
Adcy4 |
T |
C |
14: 56,021,056 (GRCm39) |
Y27C |
probably damaging |
Het |
Arnt2 |
T |
A |
7: 83,914,792 (GRCm39) |
K524M |
probably damaging |
Het |
Brca1 |
T |
C |
11: 101,415,596 (GRCm39) |
Y846C |
probably benign |
Het |
Capn7 |
T |
A |
14: 31,091,714 (GRCm39) |
C704S |
possibly damaging |
Het |
Cep350 |
T |
A |
1: 155,737,981 (GRCm39) |
I2621L |
probably benign |
Het |
Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
Cul9 |
T |
C |
17: 46,848,748 (GRCm39) |
|
probably null |
Het |
Erc2 |
A |
C |
14: 27,747,105 (GRCm39) |
N345T |
probably benign |
Het |
Fank1 |
A |
G |
7: 133,482,352 (GRCm39) |
R73G |
possibly damaging |
Het |
Fes |
A |
T |
7: 80,030,634 (GRCm39) |
W552R |
probably damaging |
Het |
Fsd2 |
A |
G |
7: 81,191,913 (GRCm39) |
V488A |
possibly damaging |
Het |
Gfm1 |
T |
C |
3: 67,381,928 (GRCm39) |
S705P |
probably damaging |
Het |
Gm9493 |
A |
T |
19: 23,597,173 (GRCm39) |
Q23L |
probably benign |
Het |
Gucy1b2 |
T |
C |
14: 62,656,511 (GRCm39) |
D282G |
probably benign |
Het |
H2-Ab1 |
T |
C |
17: 34,486,328 (GRCm39) |
I129T |
probably damaging |
Het |
H2-M10.3 |
T |
A |
17: 36,677,582 (GRCm39) |
Y232F |
probably damaging |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Lonp1 |
T |
C |
17: 56,925,331 (GRCm39) |
K487R |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,559,381 (GRCm39) |
Y290C |
probably damaging |
Het |
Ms4a10 |
C |
T |
19: 10,945,957 (GRCm39) |
G58D |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,421,454 (GRCm39) |
S4315G |
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,072,173 (GRCm39) |
T557S |
probably benign |
Het |
Obscn |
T |
C |
11: 58,886,241 (GRCm39) |
|
probably benign |
Het |
Oga |
C |
T |
19: 45,771,425 (GRCm39) |
A49T |
probably benign |
Het |
Or10ab5 |
A |
G |
7: 108,244,865 (GRCm39) |
I306T |
probably benign |
Het |
Or5p50 |
T |
C |
7: 107,422,581 (GRCm39) |
S32G |
probably benign |
Het |
Or7e173 |
A |
T |
9: 19,938,509 (GRCm39) |
S242T |
probably damaging |
Het |
Pask |
A |
T |
1: 93,242,061 (GRCm39) |
F1219I |
probably damaging |
Het |
Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
Phf1 |
T |
C |
17: 27,156,114 (GRCm39) |
|
probably benign |
Het |
Plec |
G |
A |
15: 76,058,280 (GRCm39) |
Q3751* |
probably null |
Het |
Plscr1l1 |
A |
T |
9: 92,233,140 (GRCm39) |
I88L |
possibly damaging |
Het |
Ppp1r12c |
G |
T |
7: 4,489,365 (GRCm39) |
Q240K |
probably damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,809,466 (GRCm39) |
Y436* |
probably null |
Het |
Ralgapa1 |
C |
A |
12: 55,829,562 (GRCm39) |
|
probably benign |
Het |
Scel |
T |
A |
14: 103,823,916 (GRCm39) |
S381R |
possibly damaging |
Het |
Sema4a |
C |
T |
3: 88,355,456 (GRCm39) |
|
probably benign |
Het |
Sltm |
A |
G |
9: 70,469,190 (GRCm39) |
T150A |
probably benign |
Het |
Spag1 |
G |
T |
15: 36,192,193 (GRCm39) |
K217N |
probably damaging |
Het |
Ssh1 |
C |
T |
5: 114,104,792 (GRCm39) |
R9H |
probably damaging |
Het |
St3gal4 |
C |
A |
9: 34,964,744 (GRCm39) |
V155F |
probably damaging |
Het |
Stxbp5 |
C |
T |
10: 9,684,784 (GRCm39) |
E539K |
possibly damaging |
Het |
Tbc1d7 |
G |
T |
13: 43,308,161 (GRCm39) |
|
probably benign |
Het |
Thnsl2 |
A |
T |
6: 71,111,208 (GRCm39) |
L220* |
probably null |
Het |
Tinf2 |
G |
A |
14: 55,917,566 (GRCm39) |
P308S |
probably benign |
Het |
Tnf |
T |
C |
17: 35,420,120 (GRCm39) |
|
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,073,117 (GRCm39) |
I190V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,537,391 (GRCm39) |
T34846A |
probably benign |
Het |
Ube4a |
A |
G |
9: 44,861,114 (GRCm39) |
V232A |
possibly damaging |
Het |
Uri1 |
A |
T |
7: 37,669,100 (GRCm39) |
D122E |
probably damaging |
Het |
Vmn2r94 |
T |
G |
17: 18,477,973 (GRCm39) |
Q146P |
probably damaging |
Het |
Zan |
T |
A |
5: 137,456,901 (GRCm39) |
E1278D |
unknown |
Het |
Zfhx4 |
T |
A |
3: 5,310,375 (GRCm39) |
S919R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTGATGCAAATCTGTGTCTGAGG -3'
(R):5'- CAAACCACACTCACTGTAGGCTCTG -3'
Sequencing Primer
(F):5'- cctggcttgcctggaac -3'
(R):5'- TTGTTGCCCAGGTTCAGCTT -3'
|
Posted On |
2013-11-08 |