Incidental Mutation 'R8360:Nlrp3'
ID |
652160 |
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 |
067734-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R8360 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
59432395-59457781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59440229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 602
(V602A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078440
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079476]
[ENSMUST00000101148]
[ENSMUST00000149126]
|
AlphaFold |
Q8R4B8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079476
AA Change: V602A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000078440 Gene: ENSMUSG00000032691 AA Change: V602A
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: V602A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000098707 Gene: ENSMUSG00000032691 AA Change: V602A
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
96% (43/45) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17b |
C |
T |
19: 21,655,888 (GRCm39) |
Q57* |
probably null |
Het |
Acad8 |
C |
T |
9: 26,890,352 (GRCm39) |
A288T |
possibly damaging |
Het |
Adamtsl3 |
G |
A |
7: 82,197,187 (GRCm39) |
C711Y |
probably damaging |
Het |
Ahcyl2 |
C |
A |
6: 29,768,869 (GRCm39) |
D111E |
probably benign |
Het |
Asxl3 |
T |
C |
18: 22,649,174 (GRCm39) |
F388L |
probably benign |
Het |
Bcr |
T |
A |
10: 74,981,271 (GRCm39) |
S697T |
probably damaging |
Het |
Catspere2 |
G |
A |
1: 177,842,724 (GRCm39) |
V50M |
possibly damaging |
Het |
Dgka |
C |
A |
10: 128,563,997 (GRCm39) |
V451F |
probably damaging |
Het |
Dnajc2 |
A |
T |
5: 21,962,705 (GRCm39) |
C617S |
unknown |
Het |
Erich3 |
C |
A |
3: 154,469,991 (GRCm39) |
T1481K |
unknown |
Het |
Golm2 |
A |
T |
2: 121,697,632 (GRCm39) |
|
probably benign |
Het |
Hdac2 |
T |
A |
10: 36,874,059 (GRCm39) |
D396E |
probably benign |
Het |
Hmgcs2 |
A |
T |
3: 98,204,724 (GRCm39) |
D294V |
possibly damaging |
Het |
Hnf1a |
A |
G |
5: 115,091,391 (GRCm39) |
V434A |
possibly damaging |
Het |
Il4ra |
T |
C |
7: 125,169,138 (GRCm39) |
L130P |
probably damaging |
Het |
Inpp5j |
T |
C |
11: 3,449,767 (GRCm39) |
K672E |
probably damaging |
Het |
Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,743,938 (GRCm39) |
S1345P |
probably benign |
Het |
Lrrc28 |
A |
T |
7: 67,290,909 (GRCm39) |
D37E |
probably benign |
Het |
Mlx |
G |
T |
11: 100,978,140 (GRCm39) |
|
probably benign |
Het |
Muc16 |
T |
C |
9: 18,436,554 (GRCm39) |
H7878R |
probably benign |
Het |
Mybpc1 |
C |
A |
10: 88,409,359 (GRCm39) |
E32* |
probably null |
Het |
Nebl |
C |
T |
2: 17,465,298 (GRCm39) |
V18M |
probably benign |
Het |
Nhsl3 |
C |
T |
4: 129,117,995 (GRCm39) |
R268Q |
possibly damaging |
Het |
Npepps |
G |
A |
11: 97,120,665 (GRCm39) |
P532S |
probably benign |
Het |
Or7g12 |
T |
A |
9: 18,900,139 (GRCm39) |
M285K |
probably benign |
Het |
Or8g19 |
C |
T |
9: 39,055,761 (GRCm39) |
R122* |
probably null |
Het |
Or8k53 |
T |
C |
2: 86,177,668 (GRCm39) |
I147M |
possibly damaging |
Het |
Pfdn1 |
G |
A |
18: 36,584,214 (GRCm39) |
T40M |
probably benign |
Het |
Pkd2 |
G |
T |
5: 104,607,653 (GRCm39) |
E51* |
probably null |
Het |
Prss40 |
T |
A |
1: 34,599,876 (GRCm39) |
H37L |
probably benign |
Het |
Rab11fip1 |
A |
T |
8: 27,642,374 (GRCm39) |
C808* |
probably null |
Het |
Rab3gap2 |
A |
T |
1: 184,999,270 (GRCm39) |
|
probably benign |
Het |
Sall3 |
C |
T |
18: 81,017,232 (GRCm39) |
R232H |
probably benign |
Het |
Sbk3 |
A |
G |
7: 4,970,707 (GRCm39) |
F221L |
probably damaging |
Het |
Sema7a |
T |
G |
9: 57,862,974 (GRCm39) |
|
probably benign |
Het |
Serpina3b |
C |
A |
12: 104,104,962 (GRCm39) |
N379K |
probably benign |
Het |
Ssbp4 |
A |
G |
8: 71,052,039 (GRCm39) |
L208P |
probably benign |
Het |
Stxbp5 |
C |
T |
10: 9,688,003 (GRCm39) |
|
probably null |
Het |
Tecrl |
A |
G |
5: 83,448,764 (GRCm39) |
Y160H |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,885,511 (GRCm39) |
I1773V |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,198,468 (GRCm39) |
T1511A |
probably benign |
Het |
Utp15 |
T |
C |
13: 98,391,499 (GRCm39) |
N246S |
probably damaging |
Het |
Vmn1r49 |
C |
T |
6: 90,049,991 (GRCm39) |
A4T |
probably benign |
Het |
Vmn2r57 |
A |
T |
7: 41,049,640 (GRCm39) |
I703N |
probably damaging |
Het |
Wdr93 |
A |
G |
7: 79,398,974 (GRCm39) |
D36G |
probably damaging |
Het |
Zfp334 |
A |
G |
2: 165,225,278 (GRCm39) |
I8T |
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 |
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 |
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'- TACTATTTGCTGGAAGAGGAGGC -3'
(R):5'- CGTGGTCCATTCTGGTAGAG -3'
Sequencing Primer
(F):5'- CGTGAGGAAAGGACCAGGAG -3'
(R):5'- CCATTCTGGTAGAGAGGTTGATCTC -3'
|
Posted On |
2020-10-20 |