Incidental Mutation 'R0362:Nlrp3'
| ID |
36264 |
| 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 |
038568-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R0362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
59432395-59457781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59439623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 400
(V400A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079476]
[ENSMUST00000101148]
[ENSMUST00000149126]
|
| AlphaFold |
Q8R4B8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079476
AA Change: V400A
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: V400A
| 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 |
possibly damaging
Transcript: ENSMUST00000101148
AA Change: V400A
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: V400A
| 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 |
|
| Meta Mutation Damage Score |
0.4259 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
99% (104/105) |
| 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: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,563,261 (GRCm39) |
Q401R |
probably benign |
Het |
| Acp3 |
A |
G |
9: 104,191,626 (GRCm39) |
F220S |
probably damaging |
Het |
| Adam7 |
A |
G |
14: 68,747,105 (GRCm39) |
|
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,526,584 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,625,051 (GRCm39) |
|
probably benign |
Het |
| Atg10 |
T |
C |
13: 91,189,109 (GRCm39) |
|
probably null |
Het |
| Atm |
T |
C |
9: 53,370,138 (GRCm39) |
I2325V |
possibly damaging |
Het |
| Btnl9 |
C |
T |
11: 49,060,443 (GRCm39) |
R435H |
possibly damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,923,551 (GRCm39) |
K1111E |
probably damaging |
Het |
| Ciao2b |
T |
C |
8: 105,368,222 (GRCm39) |
D34G |
probably null |
Het |
| Col11a2 |
T |
A |
17: 34,281,420 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
A |
G |
2: 172,960,236 (GRCm39) |
W116R |
probably damaging |
Het |
| Ctsk |
A |
T |
3: 95,408,255 (GRCm39) |
Y37F |
probably damaging |
Het |
| Daam2 |
G |
C |
17: 49,787,813 (GRCm39) |
|
probably null |
Het |
| Dcdc2b |
T |
C |
4: 129,504,031 (GRCm39) |
|
probably null |
Het |
| Ddx28 |
C |
T |
8: 106,737,926 (GRCm39) |
R44Q |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,099,393 (GRCm39) |
N1139K |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,989,365 (GRCm39) |
M1281K |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,185,592 (GRCm39) |
S110G |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,799,483 (GRCm39) |
Y553H |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,005,487 (GRCm39) |
|
probably null |
Het |
| Ecm1 |
A |
G |
3: 95,644,369 (GRCm39) |
I152T |
possibly damaging |
Het |
| Edc4 |
C |
G |
8: 106,613,407 (GRCm39) |
P307R |
probably damaging |
Het |
| Eeig2 |
C |
T |
3: 108,887,497 (GRCm39) |
E256K |
probably benign |
Het |
| Egr1 |
A |
G |
18: 34,996,366 (GRCm39) |
T383A |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,924,731 (GRCm39) |
|
probably null |
Het |
| Eno4 |
A |
G |
19: 58,932,056 (GRCm39) |
|
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,369,429 (GRCm39) |
I404K |
probably damaging |
Het |
| Exoc7 |
G |
T |
11: 116,186,488 (GRCm39) |
T310K |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,376,393 (GRCm39) |
V369L |
probably benign |
Het |
| Fancc |
A |
T |
13: 63,545,970 (GRCm39) |
I91K |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,151,697 (GRCm39) |
Q2519R |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,223,133 (GRCm39) |
C826* |
probably null |
Het |
| Foxi3 |
A |
G |
6: 70,933,612 (GRCm39) |
D33G |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,714,167 (GRCm39) |
|
probably benign |
Het |
| Gm14221 |
T |
C |
2: 160,410,310 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
T |
A |
9: 118,384,853 (GRCm39) |
H630Q |
probably benign |
Het |
| Gpat4 |
T |
C |
8: 23,670,949 (GRCm39) |
S88G |
probably benign |
Het |
| Gucy2d |
A |
T |
7: 98,092,892 (GRCm39) |
S90C |
probably damaging |
Het |
| Has2 |
A |
C |
15: 56,545,057 (GRCm39) |
C182G |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,935,644 (GRCm39) |
S1647R |
probably damaging |
Het |
| Ifi35 |
T |
C |
11: 101,348,038 (GRCm39) |
V48A |
probably benign |
Het |
| Lig1 |
T |
A |
7: 13,030,730 (GRCm39) |
|
probably benign |
Het |
| Magi2 |
A |
G |
5: 19,432,573 (GRCm39) |
K96R |
probably damaging |
Het |
| Map7d1 |
G |
T |
4: 126,128,787 (GRCm39) |
P462Q |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,746,439 (GRCm39) |
|
probably null |
Het |
| Mfsd4a |
A |
T |
1: 131,987,013 (GRCm39) |
V105E |
probably damaging |
Het |
| Mrpl53 |
C |
T |
6: 83,086,526 (GRCm39) |
R77C |
probably damaging |
Het |
| Mtnr1b |
C |
T |
9: 15,785,600 (GRCm39) |
V53M |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,800,414 (GRCm39) |
W990R |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,405,186 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
C |
T |
11: 79,427,704 (GRCm39) |
A1766V |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,173,649 (GRCm39) |
|
probably null |
Het |
| Nxf1 |
T |
C |
19: 8,741,515 (GRCm39) |
|
probably null |
Het |
| Or7a36 |
A |
T |
10: 78,820,220 (GRCm39) |
M199L |
probably benign |
Het |
| P4hb |
T |
C |
11: 120,454,162 (GRCm39) |
K311E |
probably benign |
Het |
| Pafah1b1 |
T |
C |
11: 74,574,457 (GRCm39) |
N243S |
probably benign |
Het |
| Parp8 |
G |
A |
13: 117,061,504 (GRCm39) |
Q141* |
probably null |
Het |
| Pkd2l2 |
A |
C |
18: 34,568,380 (GRCm39) |
D543A |
probably benign |
Het |
| Pld5 |
A |
T |
1: 175,803,146 (GRCm39) |
L311* |
probably null |
Het |
| Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
| Plpp5 |
A |
T |
8: 26,214,219 (GRCm39) |
T144S |
probably benign |
Het |
| Ppp6r3 |
A |
G |
19: 3,528,285 (GRCm39) |
L542S |
probably damaging |
Het |
| Prkar2b |
A |
T |
12: 32,037,973 (GRCm39) |
|
probably null |
Het |
| Psmg1 |
A |
T |
16: 95,789,171 (GRCm39) |
S129T |
possibly damaging |
Het |
| Radil |
T |
C |
5: 142,529,582 (GRCm39) |
D38G |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,578,411 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
T |
A |
14: 64,268,515 (GRCm39) |
L1367* |
probably null |
Het |
| Rxfp1 |
A |
T |
3: 79,645,100 (GRCm39) |
M1K |
probably null |
Het |
| Serpina6 |
G |
T |
12: 103,618,208 (GRCm39) |
L202I |
probably damaging |
Het |
| Simc1 |
T |
C |
13: 54,676,280 (GRCm39) |
I98T |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,308,519 (GRCm39) |
Y281C |
probably damaging |
Het |
| Slc26a11 |
T |
A |
11: 119,270,767 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
T |
A |
13: 55,550,711 (GRCm39) |
|
probably null |
Het |
| Slfn10-ps |
T |
A |
11: 82,926,600 (GRCm39) |
|
noncoding transcript |
Het |
| Sohlh2 |
A |
G |
3: 55,115,163 (GRCm39) |
N383D |
probably damaging |
Het |
| Spag6 |
T |
A |
2: 18,715,302 (GRCm39) |
L27H |
probably damaging |
Het |
| Sptlc3 |
A |
G |
2: 139,388,475 (GRCm39) |
|
probably benign |
Het |
| St3gal4 |
T |
A |
9: 34,964,469 (GRCm39) |
K199* |
probably null |
Het |
| Stat5a |
T |
A |
11: 100,772,909 (GRCm39) |
D712E |
probably benign |
Het |
| Stmn2 |
A |
T |
3: 8,610,750 (GRCm39) |
D78V |
probably damaging |
Het |
| Stpg1 |
C |
T |
4: 135,233,777 (GRCm39) |
P20S |
possibly damaging |
Het |
| Taf2 |
A |
T |
15: 54,909,325 (GRCm39) |
V640E |
probably damaging |
Het |
| Tbce |
T |
C |
13: 14,172,747 (GRCm39) |
E501G |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,935,374 (GRCm39) |
S1398G |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,421,242 (GRCm39) |
Y598* |
probably null |
Het |
| Ticrr |
A |
G |
7: 79,327,088 (GRCm39) |
S599G |
probably damaging |
Het |
| Tnc |
A |
C |
4: 63,935,679 (GRCm39) |
V419G |
probably damaging |
Het |
| Trappc1 |
C |
A |
11: 69,216,402 (GRCm39) |
P110T |
probably benign |
Het |
| Trbv12-2 |
C |
T |
6: 41,095,993 (GRCm39) |
|
probably benign |
Het |
| Ttbk2 |
A |
T |
2: 120,576,264 (GRCm39) |
N835K |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,450,432 (GRCm39) |
D181G |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,932,891 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Ulk2 |
C |
A |
11: 61,678,412 (GRCm39) |
C769F |
probably benign |
Het |
| Vdac1 |
T |
C |
11: 52,265,800 (GRCm39) |
|
probably benign |
Het |
| Vmn2r124 |
T |
C |
17: 18,284,486 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
C |
16: 21,426,977 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,045,625 (GRCm39) |
|
probably benign |
Het |
| Zdhhc7 |
T |
A |
8: 120,813,386 (GRCm39) |
E141V |
probably null |
Het |
| Zfp12 |
C |
A |
5: 143,230,978 (GRCm39) |
S435Y |
probably damaging |
Het |
| Zfp974 |
A |
T |
7: 27,626,819 (GRCm39) |
|
probably benign |
Het |
| Zfyve9 |
T |
A |
4: 108,538,166 (GRCm39) |
K1033N |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,772,013 (GRCm39) |
S1572T |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTCTGCTAAGCAGCCTCATCC -3'
(R):5'- AGAAGAGATGCTCCTCAATGCCCC -3'
Sequencing Primer
(F):5'- AGAAACTGCTGCCCAAGG -3'
(R):5'- ATTGCAGCAGGCTGGAAA -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation