Incidental Mutation 'R2190:Nlrp2'
| ID |
238031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp2
|
| Ensembl Gene |
ENSMUSG00000035177 |
| Gene Name |
NLR family, pyrin domain containing 2 |
| Synonyms |
Pan1, Nbs1, E330007A02Rik, PYPAF2, Nalp2 |
| MMRRC Submission |
040192-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2190 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
5301546-5354034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5322237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 803
(D803E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045022]
[ENSMUST00000207520]
[ENSMUST00000207685]
|
| AlphaFold |
Q4PLS0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045022
AA Change: D803E
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: D803E
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
7 |
90 |
2.88e-17 |
SMART |
|
Pfam:NACHT
|
180 |
348 |
6.9e-30 |
PFAM |
|
internal_repeat_1
|
676 |
722 |
1.74e-5 |
PROSPERO |
|
LRR
|
796 |
823 |
1.26e1 |
SMART |
|
LRR
|
825 |
852 |
1.18e1 |
SMART |
|
LRR
|
853 |
880 |
5.81e-2 |
SMART |
|
LRR
|
882 |
909 |
3.39e-3 |
SMART |
|
LRR
|
910 |
937 |
5.06e-2 |
SMART |
|
LRR
|
939 |
966 |
5.23e0 |
SMART |
|
LRR
|
967 |
994 |
3.58e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207520
AA Change: D65E
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207685
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
T |
8: 111,766,785 (GRCm39) |
T56S |
probably damaging |
Het |
| Acbd6 |
A |
T |
1: 155,500,652 (GRCm39) |
H204L |
probably damaging |
Het |
| Acnat2 |
T |
A |
4: 49,383,551 (GRCm39) |
M1L |
probably benign |
Het |
| Adgrg5 |
A |
T |
8: 95,660,579 (GRCm39) |
I73F |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,219,487 (GRCm39) |
T474A |
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,782,365 (GRCm39) |
D252G |
possibly damaging |
Het |
| Aspg |
G |
T |
12: 112,091,322 (GRCm39) |
E501D |
probably damaging |
Het |
| Bicral |
A |
G |
17: 47,136,049 (GRCm39) |
I387T |
probably damaging |
Het |
| Bub1 |
T |
C |
2: 127,652,645 (GRCm39) |
N574S |
probably benign |
Het |
| Casr |
G |
A |
16: 36,315,778 (GRCm39) |
T764M |
probably damaging |
Het |
| Ccdc60 |
A |
G |
5: 116,295,639 (GRCm39) |
S259P |
probably damaging |
Het |
| Ccne2 |
A |
T |
4: 11,197,241 (GRCm39) |
N181I |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,091,260 (GRCm39) |
D89G |
probably benign |
Het |
| Col25a1 |
C |
T |
3: 130,378,364 (GRCm39) |
P606S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,680,491 (GRCm39) |
S582P |
possibly damaging |
Het |
| Dlg4 |
A |
G |
11: 69,933,430 (GRCm39) |
D619G |
probably damaging |
Het |
| Elavl2 |
C |
T |
4: 91,152,331 (GRCm39) |
V129I |
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,366,552 (GRCm39) |
I965T |
probably benign |
Het |
| Fbxw16 |
G |
A |
9: 109,265,739 (GRCm39) |
S360L |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,221,330 (GRCm39) |
Y158C |
probably damaging |
Het |
| Gm44511 |
A |
G |
6: 128,803,163 (GRCm39) |
I16T |
possibly damaging |
Het |
| Has2 |
C |
A |
15: 56,531,183 (GRCm39) |
V511F |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,109,185 (GRCm39) |
R1025C |
probably damaging |
Het |
| Hsd17b12 |
T |
C |
2: 93,864,408 (GRCm39) |
Y233C |
probably benign |
Het |
| Il36rn |
A |
T |
2: 24,170,831 (GRCm39) |
I43F |
probably damaging |
Het |
| Inpp5b |
T |
A |
4: 124,678,988 (GRCm39) |
I465N |
probably damaging |
Het |
| Irak2 |
T |
A |
6: 113,663,904 (GRCm39) |
N423K |
probably damaging |
Het |
| Itga2 |
C |
A |
13: 115,007,141 (GRCm39) |
V396L |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,874,685 (GRCm39) |
T212A |
possibly damaging |
Het |
| Lipo2 |
A |
T |
19: 33,725,969 (GRCm39) |
N94K |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,390,869 (GRCm39) |
T1519A |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,353,005 (GRCm39) |
V1558A |
probably benign |
Het |
| Mocos |
C |
A |
18: 24,797,114 (GRCm39) |
H91Q |
probably benign |
Het |
| Myh14 |
G |
A |
7: 44,310,487 (GRCm39) |
T132I |
probably damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,704,018 (GRCm39) |
I173N |
probably damaging |
Het |
| Or14c43 |
A |
G |
7: 86,115,573 (GRCm39) |
Y318C |
possibly damaging |
Het |
| Or5b105 |
T |
G |
19: 13,079,857 (GRCm39) |
K270N |
probably damaging |
Het |
| Pitx3 |
T |
C |
19: 46,125,486 (GRCm39) |
Y86C |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,807,709 (GRCm39) |
S520G |
probably benign |
Het |
| Pygo1 |
C |
T |
9: 72,852,529 (GRCm39) |
Q239* |
probably null |
Het |
| Rab13 |
A |
G |
3: 90,130,851 (GRCm39) |
E68G |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,525,201 (GRCm39) |
E797G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,261,937 (GRCm39) |
|
probably null |
Het |
| Slco1c1 |
A |
G |
6: 141,508,893 (GRCm39) |
T518A |
probably benign |
Het |
| Spint1 |
A |
G |
2: 119,068,661 (GRCm39) |
I132V |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,544,601 (GRCm39) |
I4514N |
probably benign |
Het |
| Tenm3 |
T |
G |
8: 48,848,579 (GRCm39) |
S87R |
probably damaging |
Het |
| Thap4 |
G |
T |
1: 93,678,381 (GRCm39) |
P135Q |
probably damaging |
Het |
| Tmed9 |
A |
G |
13: 55,741,156 (GRCm39) |
E57G |
probably benign |
Het |
| Tnrc18 |
C |
T |
5: 142,761,644 (GRCm39) |
V594I |
unknown |
Het |
| Trmt1 |
A |
T |
8: 85,416,470 (GRCm39) |
K64* |
probably null |
Het |
| Usf2 |
A |
G |
7: 30,654,606 (GRCm39) |
V198A |
probably damaging |
Het |
| Usp14 |
A |
T |
18: 10,007,835 (GRCm39) |
C168S |
probably damaging |
Het |
| Vav3 |
C |
A |
3: 109,470,130 (GRCm39) |
T525K |
probably damaging |
Het |
| Vmn1r52 |
A |
G |
6: 90,156,151 (GRCm39) |
I152V |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,104,085 (GRCm39) |
D236G |
possibly damaging |
Het |
| Wdr19 |
G |
A |
5: 65,401,509 (GRCm39) |
V975I |
possibly damaging |
Het |
|
| Other mutations in Nlrp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Nlrp2
|
APN |
7 |
5,340,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00545:Nlrp2
|
APN |
7 |
5,331,251 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01311:Nlrp2
|
APN |
7 |
5,322,238 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01345:Nlrp2
|
APN |
7 |
5,320,491 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01583:Nlrp2
|
APN |
7 |
5,340,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01659:Nlrp2
|
APN |
7 |
5,331,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02240:Nlrp2
|
APN |
7 |
5,330,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02353:Nlrp2
|
APN |
7 |
5,340,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02360:Nlrp2
|
APN |
7 |
5,340,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Nlrp2
|
APN |
7 |
5,331,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02441:Nlrp2
|
APN |
7 |
5,338,566 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02588:Nlrp2
|
APN |
7 |
5,330,551 (GRCm39) |
nonsense |
probably null |
|
|
IGL02803:Nlrp2
|
APN |
7 |
5,331,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02968:Nlrp2
|
APN |
7 |
5,304,024 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03342:Nlrp2
|
APN |
7 |
5,320,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Nlrp2
|
UTSW |
7 |
5,330,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB016:Nlrp2
|
UTSW |
7 |
5,330,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Nlrp2
|
UTSW |
7 |
5,325,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Nlrp2
|
UTSW |
7 |
5,325,333 (GRCm39) |
unclassified |
probably benign |
|
|
R0079:Nlrp2
|
UTSW |
7 |
5,330,729 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0130:Nlrp2
|
UTSW |
7 |
5,325,417 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0157:Nlrp2
|
UTSW |
7 |
5,311,769 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0201:Nlrp2
|
UTSW |
7 |
5,331,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0276:Nlrp2
|
UTSW |
7 |
5,331,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0288:Nlrp2
|
UTSW |
7 |
5,331,544 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0332:Nlrp2
|
UTSW |
7 |
5,320,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0724:Nlrp2
|
UTSW |
7 |
5,322,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1241:Nlrp2
|
UTSW |
7 |
5,331,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1355:Nlrp2
|
UTSW |
7 |
5,330,490 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1392:Nlrp2
|
UTSW |
7 |
5,332,014 (GRCm39) |
splice site |
probably benign |
|
|
R1470:Nlrp2
|
UTSW |
7 |
5,303,950 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1470:Nlrp2
|
UTSW |
7 |
5,303,950 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1563:Nlrp2
|
UTSW |
7 |
5,311,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Nlrp2
|
UTSW |
7 |
5,330,715 (GRCm39) |
nonsense |
probably null |
|
|
R1942:Nlrp2
|
UTSW |
7 |
5,325,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Nlrp2
|
UTSW |
7 |
5,330,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Nlrp2
|
UTSW |
7 |
5,330,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1961:Nlrp2
|
UTSW |
7 |
5,330,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Nlrp2
|
UTSW |
7 |
5,328,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2161:Nlrp2
|
UTSW |
7 |
5,328,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2243:Nlrp2
|
UTSW |
7 |
5,338,597 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2277:Nlrp2
|
UTSW |
7 |
5,331,128 (GRCm39) |
missense |
probably benign |
|
|
R2334:Nlrp2
|
UTSW |
7 |
5,340,534 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3030:Nlrp2
|
UTSW |
7 |
5,330,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Nlrp2
|
UTSW |
7 |
5,322,286 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3941:Nlrp2
|
UTSW |
7 |
5,330,551 (GRCm39) |
nonsense |
probably null |
|
|
R4021:Nlrp2
|
UTSW |
7 |
5,328,011 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4518:Nlrp2
|
UTSW |
7 |
5,328,055 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4666:Nlrp2
|
UTSW |
7 |
5,322,188 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4767:Nlrp2
|
UTSW |
7 |
5,331,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Nlrp2
|
UTSW |
7 |
5,331,950 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4873:Nlrp2
|
UTSW |
7 |
5,301,858 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4875:Nlrp2
|
UTSW |
7 |
5,301,858 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5020:Nlrp2
|
UTSW |
7 |
5,331,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5293:Nlrp2
|
UTSW |
7 |
5,330,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5310:Nlrp2
|
UTSW |
7 |
5,328,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5336:Nlrp2
|
UTSW |
7 |
5,331,118 (GRCm39) |
missense |
probably benign |
|
|
R5390:Nlrp2
|
UTSW |
7 |
5,303,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5864:Nlrp2
|
UTSW |
7 |
5,325,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5913:Nlrp2
|
UTSW |
7 |
5,327,902 (GRCm39) |
splice site |
probably null |
|
|
R6173:Nlrp2
|
UTSW |
7 |
5,340,808 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6274:Nlrp2
|
UTSW |
7 |
5,320,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6303:Nlrp2
|
UTSW |
7 |
5,340,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6343:Nlrp2
|
UTSW |
7 |
5,303,925 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6704:Nlrp2
|
UTSW |
7 |
5,328,040 (GRCm39) |
nonsense |
probably null |
|
|
R6814:Nlrp2
|
UTSW |
7 |
5,311,709 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6872:Nlrp2
|
UTSW |
7 |
5,311,709 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7023:Nlrp2
|
UTSW |
7 |
5,331,228 (GRCm39) |
nonsense |
probably null |
|
|
R7028:Nlrp2
|
UTSW |
7 |
5,331,571 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7109:Nlrp2
|
UTSW |
7 |
5,331,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Nlrp2
|
UTSW |
7 |
5,320,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7322:Nlrp2
|
UTSW |
7 |
5,311,644 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7339:Nlrp2
|
UTSW |
7 |
5,330,627 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7573:Nlrp2
|
UTSW |
7 |
5,320,468 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7657:Nlrp2
|
UTSW |
7 |
5,322,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7929:Nlrp2
|
UTSW |
7 |
5,330,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7964:Nlrp2
|
UTSW |
7 |
5,331,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Nlrp2
|
UTSW |
7 |
5,330,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8276:Nlrp2
|
UTSW |
7 |
5,320,494 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8785:Nlrp2
|
UTSW |
7 |
5,330,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8798:Nlrp2
|
UTSW |
7 |
5,330,887 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8982:Nlrp2
|
UTSW |
7 |
5,327,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9030:Nlrp2
|
UTSW |
7 |
5,325,457 (GRCm39) |
missense |
probably null |
0.00 |
|
R9038:Nlrp2
|
UTSW |
7 |
5,330,478 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9149:Nlrp2
|
UTSW |
7 |
5,330,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9229:Nlrp2
|
UTSW |
7 |
5,304,052 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9584:Nlrp2
|
UTSW |
7 |
5,322,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Nlrp2
|
UTSW |
7 |
5,330,641 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTGTAAGTGTGAAGGCAAC -3'
(R):5'- ACCCTTCAATTAGCTGCAGTC -3'
Sequencing Primer
(F):5'- GTGTGAAGGCAACCATATCTCTTCTG -3'
(R):5'- CAATTAGCTGCAGTCAGTTTCTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation