Incidental Mutation 'R1905:Nlrp3'
| ID |
214305 |
| 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 |
039924-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R1905 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
59432395-59457781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 59439862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 480
(F480V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079476]
[ENSMUST00000101148]
[ENSMUST00000149126]
|
| AlphaFold |
Q8R4B8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079476
AA Change: F480V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: F480V
| 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: F480V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: F480V
| 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 |
0.8646 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.1%
|
| Validation Efficiency |
99% (90/91) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
G |
T |
13: 119,606,216 (GRCm39) |
V153L |
possibly damaging |
Het |
| Adamts17 |
T |
A |
7: 66,697,220 (GRCm39) |
C631* |
probably null |
Het |
| Adamts19 |
A |
G |
18: 59,166,017 (GRCm39) |
R1070G |
possibly damaging |
Het |
| Aldh1a1 |
A |
G |
19: 20,595,362 (GRCm39) |
E97G |
probably damaging |
Het |
| Bola2 |
T |
A |
7: 126,295,410 (GRCm39) |
V40E |
probably damaging |
Het |
| Ccar1 |
A |
G |
10: 62,612,437 (GRCm39) |
S243P |
possibly damaging |
Het |
| Cd80 |
A |
T |
16: 38,294,539 (GRCm39) |
I141F |
probably damaging |
Het |
| Ceacam23 |
T |
A |
7: 17,607,477 (GRCm39) |
|
noncoding transcript |
Het |
| Chn2 |
T |
C |
6: 54,263,106 (GRCm39) |
C92R |
probably damaging |
Het |
| Ciao2a |
A |
G |
9: 66,039,929 (GRCm39) |
K82R |
probably benign |
Het |
| Clk1 |
A |
T |
1: 58,461,101 (GRCm39) |
|
probably benign |
Het |
| Clock |
T |
C |
5: 76,414,735 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 65,051,578 (GRCm39) |
V26A |
probably benign |
Het |
| Csf3r |
A |
T |
4: 125,936,538 (GRCm39) |
K651N |
probably benign |
Het |
| Cul4a |
T |
C |
8: 13,183,171 (GRCm39) |
M322T |
probably benign |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,687 (GRCm39) |
T231A |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,724,026 (GRCm39) |
C213S |
probably benign |
Het |
| Dhx16 |
T |
G |
17: 36,199,247 (GRCm39) |
S814A |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,986,587 (GRCm39) |
I3659V |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,740,870 (GRCm39) |
V906D |
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,818,814 (GRCm39) |
T2738I |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,114,569 (GRCm39) |
|
probably benign |
Het |
| Fam135b |
C |
T |
15: 71,404,836 (GRCm39) |
R70H |
probably damaging |
Het |
| Fam13a |
T |
C |
6: 58,930,475 (GRCm39) |
Q479R |
probably damaging |
Het |
| Fcgr4 |
A |
T |
1: 170,856,874 (GRCm39) |
Q247L |
probably damaging |
Het |
| Flnc |
T |
A |
6: 29,459,459 (GRCm39) |
C2520S |
probably damaging |
Het |
| Foxn1 |
A |
G |
11: 78,262,636 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,813,772 (GRCm39) |
P3364S |
possibly damaging |
Het |
| Fzd8 |
C |
T |
18: 9,213,803 (GRCm39) |
T295I |
probably damaging |
Het |
| Gm4744 |
G |
A |
6: 40,928,736 (GRCm39) |
|
probably benign |
Het |
| Gm4871 |
G |
T |
5: 144,966,859 (GRCm39) |
A208D |
probably damaging |
Het |
| Gm527 |
A |
G |
12: 64,967,797 (GRCm39) |
N73S |
possibly damaging |
Het |
| Gm5414 |
T |
C |
15: 101,533,075 (GRCm39) |
I451V |
probably damaging |
Het |
| Golm1 |
A |
T |
13: 59,790,065 (GRCm39) |
V245E |
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,693,754 (GRCm39) |
Y879* |
probably null |
Het |
| Grn |
C |
A |
11: 102,327,276 (GRCm39) |
P241Q |
probably damaging |
Het |
| H2-T7 |
T |
C |
17: 36,453,833 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
T |
C |
1: 88,194,338 (GRCm39) |
E190G |
probably benign |
Het |
| Hmcn1 |
A |
C |
1: 150,868,606 (GRCm39) |
I66S |
probably damaging |
Het |
| Hykk |
T |
A |
9: 54,853,667 (GRCm39) |
Y330N |
probably benign |
Het |
| Khdc1c |
A |
G |
1: 21,439,281 (GRCm39) |
N89S |
probably benign |
Het |
| Lcor |
A |
G |
19: 41,572,013 (GRCm39) |
D256G |
possibly damaging |
Het |
| Lrrc72 |
T |
A |
12: 36,258,661 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
G |
13: 13,808,719 (GRCm39) |
S130A |
probably benign |
Het |
| Mast1 |
G |
A |
8: 85,642,895 (GRCm39) |
R967C |
probably damaging |
Het |
| Mfng |
T |
C |
15: 78,657,286 (GRCm39) |
T63A |
probably damaging |
Het |
| Mre11a |
G |
A |
9: 14,710,923 (GRCm39) |
D206N |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,662,694 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,439,549 (GRCm39) |
D357G |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,552,540 (GRCm39) |
H217L |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,345,433 (GRCm39) |
V638A |
probably damaging |
Het |
| Nos1ap |
A |
G |
1: 170,146,127 (GRCm39) |
W476R |
possibly damaging |
Het |
| Nr1h4 |
T |
A |
10: 89,316,421 (GRCm39) |
T220S |
possibly damaging |
Het |
| Ntf5 |
G |
T |
7: 45,065,176 (GRCm39) |
V103L |
probably damaging |
Het |
| Ntm |
C |
A |
9: 29,090,393 (GRCm39) |
D109Y |
probably damaging |
Het |
| Or7e178 |
C |
T |
9: 20,226,142 (GRCm39) |
E17K |
probably benign |
Het |
| P2rx7 |
G |
A |
5: 122,819,015 (GRCm39) |
C479Y |
probably damaging |
Het |
| Pappa2 |
T |
A |
1: 158,631,073 (GRCm39) |
|
probably null |
Het |
| Pgap1 |
A |
C |
1: 54,551,120 (GRCm39) |
I520R |
probably benign |
Het |
| Pikfyve |
G |
A |
1: 65,231,454 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
T |
C |
12: 76,622,991 (GRCm39) |
S744P |
probably benign |
Het |
| Pramel6 |
A |
G |
2: 87,339,526 (GRCm39) |
R97G |
probably damaging |
Het |
| Pramel6 |
G |
T |
2: 87,339,527 (GRCm39) |
R97M |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,760,922 (GRCm39) |
V397A |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,396,119 (GRCm39) |
D783G |
probably damaging |
Het |
| Ptma-ps1 |
T |
A |
7: 23,763,306 (GRCm39) |
L17* |
probably null |
Het |
| Ralgapa2 |
C |
A |
2: 146,229,621 (GRCm39) |
R1053L |
probably damaging |
Het |
| Sap130 |
C |
T |
18: 31,813,620 (GRCm39) |
P559L |
possibly damaging |
Het |
| Sap30 |
T |
C |
8: 57,940,345 (GRCm39) |
S86G |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sema3f |
G |
T |
9: 107,561,575 (GRCm39) |
Q500K |
probably damaging |
Het |
| Serpinb3d |
T |
C |
1: 107,007,014 (GRCm39) |
I231M |
possibly damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,126,678 (GRCm39) |
N563K |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,038,592 (GRCm39) |
S352P |
possibly damaging |
Het |
| Slc6a12 |
G |
T |
6: 121,324,402 (GRCm39) |
E9* |
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,095,319 (GRCm39) |
D400G |
probably damaging |
Het |
| Swsap1 |
T |
C |
9: 21,867,988 (GRCm39) |
Y87H |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,813,689 (GRCm39) |
G1711D |
possibly damaging |
Het |
| Tas2r107 |
T |
C |
6: 131,636,951 (GRCm39) |
M33V |
probably benign |
Het |
| Tdrd9 |
T |
A |
12: 112,030,061 (GRCm39) |
|
probably benign |
Het |
| Tdrp |
T |
C |
8: 14,004,079 (GRCm39) |
D86G |
probably damaging |
Het |
| Tmem92 |
A |
T |
11: 94,669,501 (GRCm39) |
M106K |
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,138,440 (GRCm39) |
C764S |
possibly damaging |
Het |
| Ttc21a |
G |
T |
9: 119,795,823 (GRCm39) |
R1219L |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,593,792 (GRCm39) |
G18870D |
probably damaging |
Het |
| Tubgcp6 |
T |
C |
15: 88,984,811 (GRCm39) |
Y1732C |
probably damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,912 (GRCm39) |
T252A |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,346,700 (GRCm39) |
I2980M |
probably damaging |
Het |
| Zc2hc1c |
A |
G |
12: 85,337,288 (GRCm39) |
D315G |
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 |
|
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'- AGGTCCTCTTTACCATGTGC -3'
(R):5'- GCCTCCTCTTCCAGCAAATAG -3'
Sequencing Primer
(F):5'- TGTGCACGGGGCTAAAGC -3'
(R):5'- TAGTACATAGCAGCGAAGAACTCCTG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation