Incidental Mutation 'R5051:Nlrp3'
| ID |
394661 |
| 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 |
042641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5051 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
59432395-59457781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 59457025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Proline
at position 1013
(R1013P)
|
| 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: R1013P
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: R1013P
| 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: R1013P
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: R1013P
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.6%
|
| Validation Efficiency |
98% (62/63) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
G |
A |
11: 25,718,990 (GRCm39) |
T51I |
unknown |
Het |
| Alms1 |
C |
T |
6: 85,604,916 (GRCm39) |
Q2189* |
probably null |
Het |
| Ank1 |
A |
T |
8: 23,609,397 (GRCm39) |
D1363V |
probably damaging |
Het |
| Ap3d1 |
T |
G |
10: 80,555,033 (GRCm39) |
T431P |
probably damaging |
Het |
| Arnt |
A |
G |
3: 95,377,648 (GRCm39) |
T125A |
probably benign |
Het |
| Atp10a |
TGTCCGTC |
TGTC |
7: 58,389,994 (GRCm39) |
|
probably null |
Het |
| Bscl2 |
A |
T |
19: 8,822,643 (GRCm39) |
R195* |
probably null |
Het |
| Ccdc146 |
C |
T |
5: 21,508,081 (GRCm39) |
V656I |
possibly damaging |
Het |
| Ccn6 |
A |
G |
10: 39,031,152 (GRCm39) |
F124L |
probably benign |
Het |
| Ccr4 |
T |
C |
9: 114,321,714 (GRCm39) |
Y117C |
probably damaging |
Het |
| Cd55 |
T |
A |
1: 130,376,085 (GRCm39) |
D355V |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,749,558 (GRCm39) |
I259N |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,793,020 (GRCm39) |
I252V |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,696,472 (GRCm39) |
V895A |
probably benign |
Het |
| Ect2 |
A |
G |
3: 27,156,635 (GRCm39) |
V775A |
probably benign |
Het |
| Gm14486 |
T |
C |
2: 30,548,889 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,756,393 (GRCm39) |
N444S |
possibly damaging |
Het |
| Heatr5b |
T |
C |
17: 79,102,703 (GRCm39) |
D1225G |
probably damaging |
Het |
| Il1rl2 |
G |
A |
1: 40,382,254 (GRCm39) |
V189I |
probably benign |
Het |
| Kif1a |
G |
A |
1: 93,003,876 (GRCm39) |
|
probably null |
Het |
| Ltbr |
T |
A |
6: 125,289,733 (GRCm39) |
T154S |
probably damaging |
Het |
| Mrgpra6 |
C |
T |
7: 46,835,690 (GRCm39) |
V244I |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,378,251 (GRCm39) |
|
probably null |
Het |
| Ndufs1 |
A |
G |
1: 63,204,106 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,268,913 (GRCm39) |
N496K |
possibly damaging |
Het |
| Nkd2 |
A |
G |
13: 73,973,195 (GRCm39) |
V147A |
probably benign |
Het |
| Or4d11 |
C |
A |
19: 12,013,288 (GRCm39) |
V273F |
possibly damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,599 (GRCm39) |
Y258* |
probably null |
Het |
| Pdk2 |
T |
C |
11: 94,919,598 (GRCm39) |
S263G |
probably benign |
Het |
| Pla2g4e |
T |
A |
2: 120,004,785 (GRCm39) |
I520F |
probably damaging |
Het |
| Plat |
A |
G |
8: 23,263,688 (GRCm39) |
T196A |
probably benign |
Het |
| Podn |
T |
A |
4: 107,872,043 (GRCm39) |
D400V |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,943,357 (GRCm39) |
V147A |
possibly damaging |
Het |
| Prkar2a |
A |
G |
9: 108,622,690 (GRCm39) |
N315D |
probably benign |
Het |
| Rac2 |
A |
G |
15: 78,449,134 (GRCm39) |
I13T |
possibly damaging |
Het |
| Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
| Relch |
T |
A |
1: 105,619,711 (GRCm39) |
N313K |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
| Supv3l1 |
A |
C |
10: 62,279,196 (GRCm39) |
I240S |
probably damaging |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Tead4 |
A |
C |
6: 128,271,262 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
G |
A |
4: 48,460,019 (GRCm39) |
A444V |
possibly damaging |
Het |
| Tgds |
A |
T |
14: 118,365,639 (GRCm39) |
I73K |
probably damaging |
Het |
| Tmem117 |
C |
A |
15: 94,612,794 (GRCm39) |
T110K |
probably damaging |
Het |
| Trim30a |
T |
A |
7: 104,060,913 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,548,636 (GRCm39) |
T636I |
probably damaging |
Het |
| Ybey |
G |
A |
10: 76,304,173 (GRCm39) |
R10W |
probably damaging |
Het |
| Zap70 |
A |
G |
1: 36,820,532 (GRCm39) |
I576V |
probably benign |
Het |
| Zfp64 |
T |
C |
2: 168,768,304 (GRCm39) |
D436G |
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 |
|
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'- TGCCTAGAGCTTCTCATGGG -3'
(R):5'- ATTTGGTCCCACACAAGCC -3'
Sequencing Primer
(F):5'- CCTAGAGCTTCTCATGGGGTAGG -3'
(R):5'- CCTCGGCTGTGATCCTGATG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation