Incidental Mutation 'R3616:Nlrp10'
| ID |
268399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp10
|
| Ensembl Gene |
ENSMUSG00000049709 |
| Gene Name |
NLR family, pyrin domain containing 10 |
| Synonyms |
Nalp10, 6430548I20Rik, Pynod |
| MMRRC Submission |
040673-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3616 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
108521060-108529365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108523683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 599
(F599S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055745]
|
| AlphaFold |
Q8CCN1 |
| PDB Structure |
Solution structure of the Pyrin/PAAD-DAPIN domain in mouse NALP10 (NACHT, leucine rich repeat and PYD containing 10) [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055745
AA Change: F599S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000050252
Gene: ENSMUSG00000049709
AA Change: F599S
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
9 |
88 |
4.13e-18 |
SMART |
|
low complexity region
|
126 |
137 |
N/A |
INTRINSIC |
|
AAA
|
161 |
302 |
1.07e-2 |
SMART |
|
low complexity region
|
576 |
597 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (29/29) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). The protein encoded by this gene belongs to the NALP protein family despite lacking the LRR region. This protein likely plays a regulatory role in the innate immune system. The protein belongs to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. Other experiments indicate that this gene acts as a multifunctional negative regulator of inflammation and apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display a global defect in adaptive immune responses with impaired dendritic cell migration to lymph nodes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,535,257 (GRCm39) |
T818A |
probably benign |
Het |
| Aasdh |
A |
G |
5: 77,036,629 (GRCm39) |
V304A |
probably benign |
Het |
| Angptl3 |
G |
A |
4: 98,922,702 (GRCm39) |
A248T |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,215,391 (GRCm39) |
C112S |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,967,368 (GRCm39) |
I549N |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,801,562 (GRCm39) |
D161N |
possibly damaging |
Het |
| Col28a1 |
A |
G |
6: 8,014,942 (GRCm39) |
V821A |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 31,037,105 (GRCm39) |
L247P |
possibly damaging |
Het |
| Dpysl2 |
T |
A |
14: 67,071,819 (GRCm39) |
H107L |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,757,426 (GRCm39) |
L869S |
probably damaging |
Het |
| Efs |
T |
C |
14: 55,157,552 (GRCm39) |
Y160C |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,652,306 (GRCm39) |
N1197Y |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam184b |
A |
G |
5: 45,740,157 (GRCm39) |
V343A |
possibly damaging |
Het |
| Fbxw26 |
A |
T |
9: 109,572,828 (GRCm39) |
Y105* |
probably null |
Het |
| Fiz1 |
A |
G |
7: 5,011,171 (GRCm39) |
L449P |
probably benign |
Het |
| Foxi2 |
T |
A |
7: 135,012,180 (GRCm39) |
C23S |
possibly damaging |
Het |
| Gdf2 |
G |
A |
14: 33,666,914 (GRCm39) |
R212Q |
probably damaging |
Het |
| Gm5105 |
C |
A |
3: 137,755,449 (GRCm39) |
A46S |
unknown |
Het |
| Grik5 |
C |
T |
7: 24,721,996 (GRCm39) |
A581T |
probably benign |
Het |
| Gse1 |
C |
G |
8: 121,299,481 (GRCm39) |
|
probably benign |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Kif1b |
A |
T |
4: 149,346,740 (GRCm39) |
|
probably benign |
Het |
| Krt25 |
A |
C |
11: 99,208,124 (GRCm39) |
V368G |
possibly damaging |
Het |
| Lacc1 |
A |
G |
14: 77,270,727 (GRCm39) |
V269A |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,126,896 (GRCm39) |
K417E |
probably damaging |
Het |
| Miip |
A |
G |
4: 147,950,371 (GRCm39) |
M75T |
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,289,205 (GRCm39) |
M436L |
probably benign |
Het |
| Or4b13 |
T |
C |
2: 90,082,753 (GRCm39) |
E193G |
possibly damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,581,058 (GRCm39) |
S57F |
probably damaging |
Het |
| Pard6b |
T |
C |
2: 167,929,259 (GRCm39) |
|
probably benign |
Het |
| Pla2g2e |
G |
A |
4: 138,607,685 (GRCm39) |
V22I |
probably benign |
Het |
| Plekhd1 |
A |
G |
12: 80,764,044 (GRCm39) |
E202G |
probably damaging |
Het |
| Prss21 |
A |
G |
17: 24,091,805 (GRCm39) |
T258A |
probably benign |
Het |
| Prss34 |
A |
G |
17: 25,517,820 (GRCm39) |
E65G |
probably benign |
Het |
| Psap |
A |
G |
10: 60,130,383 (GRCm39) |
N149S |
probably benign |
Het |
| Ptprf |
C |
T |
4: 118,095,080 (GRCm39) |
A275T |
probably benign |
Het |
| Sem1 |
A |
G |
6: 6,578,520 (GRCm39) |
L12P |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,571,155 (GRCm39) |
Y4H |
probably damaging |
Het |
| Sh3bp4 |
G |
T |
1: 89,065,427 (GRCm39) |
R7L |
probably damaging |
Het |
| Slc16a1 |
T |
A |
3: 104,560,886 (GRCm39) |
L397Q |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,243,758 (GRCm39) |
S10G |
possibly damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Spata31e5 |
T |
C |
1: 28,815,656 (GRCm39) |
D792G |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,864 (GRCm39) |
N399S |
probably benign |
Het |
| Tas2r102 |
C |
T |
6: 132,739,781 (GRCm39) |
Q230* |
probably null |
Het |
| Tdo2 |
A |
G |
3: 81,882,735 (GRCm39) |
Y13H |
possibly damaging |
Het |
| Tmem231 |
C |
T |
8: 112,644,945 (GRCm39) |
R187H |
possibly damaging |
Het |
| Tmem30b |
A |
G |
12: 73,592,353 (GRCm39) |
M254T |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,893,318 (GRCm39) |
G1057R |
probably damaging |
Het |
| Tusc3 |
A |
T |
8: 39,617,879 (GRCm39) |
K347N |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
Het |
| Vash2 |
T |
C |
1: 190,702,616 (GRCm39) |
Y117C |
probably damaging |
Het |
| Vrk2 |
A |
G |
11: 26,439,866 (GRCm39) |
I235T |
possibly damaging |
Het |
| Wdr20 |
A |
G |
12: 110,760,373 (GRCm39) |
T420A |
probably benign |
Het |
|
| Other mutations in Nlrp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01374:Nlrp10
|
APN |
7 |
108,523,788 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01482:Nlrp10
|
APN |
7 |
108,526,159 (GRCm39) |
missense |
probably benign |
|
|
IGL02043:Nlrp10
|
APN |
7 |
108,524,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03129:Nlrp10
|
APN |
7 |
108,524,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02835:Nlrp10
|
UTSW |
7 |
108,523,869 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0106:Nlrp10
|
UTSW |
7 |
108,524,529 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0106:Nlrp10
|
UTSW |
7 |
108,524,529 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0540:Nlrp10
|
UTSW |
7 |
108,523,492 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0607:Nlrp10
|
UTSW |
7 |
108,523,492 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1166:Nlrp10
|
UTSW |
7 |
108,524,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1248:Nlrp10
|
UTSW |
7 |
108,525,088 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1450:Nlrp10
|
UTSW |
7 |
108,524,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1459:Nlrp10
|
UTSW |
7 |
108,523,555 (GRCm39) |
missense |
probably benign |
|
|
R1567:Nlrp10
|
UTSW |
7 |
108,526,257 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1635:Nlrp10
|
UTSW |
7 |
108,523,737 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1845:Nlrp10
|
UTSW |
7 |
108,526,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Nlrp10
|
UTSW |
7 |
108,524,602 (GRCm39) |
nonsense |
probably null |
|
|
R1952:Nlrp10
|
UTSW |
7 |
108,523,770 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1953:Nlrp10
|
UTSW |
7 |
108,524,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2079:Nlrp10
|
UTSW |
7 |
108,524,835 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3615:Nlrp10
|
UTSW |
7 |
108,523,683 (GRCm39) |
missense |
probably benign |
|
|
R4207:Nlrp10
|
UTSW |
7 |
108,523,548 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4786:Nlrp10
|
UTSW |
7 |
108,524,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:Nlrp10
|
UTSW |
7 |
108,523,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5568:Nlrp10
|
UTSW |
7 |
108,523,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5993:Nlrp10
|
UTSW |
7 |
108,526,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6033:Nlrp10
|
UTSW |
7 |
108,523,784 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6033:Nlrp10
|
UTSW |
7 |
108,523,784 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6170:Nlrp10
|
UTSW |
7 |
108,523,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6320:Nlrp10
|
UTSW |
7 |
108,524,953 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6935:Nlrp10
|
UTSW |
7 |
108,526,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7024:Nlrp10
|
UTSW |
7 |
108,524,405 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7081:Nlrp10
|
UTSW |
7 |
108,523,855 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7397:Nlrp10
|
UTSW |
7 |
108,523,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7720:Nlrp10
|
UTSW |
7 |
108,523,695 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7763:Nlrp10
|
UTSW |
7 |
108,525,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7776:Nlrp10
|
UTSW |
7 |
108,524,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Nlrp10
|
UTSW |
7 |
108,523,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7852:Nlrp10
|
UTSW |
7 |
108,524,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Nlrp10
|
UTSW |
7 |
108,525,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9181:Nlrp10
|
UTSW |
7 |
108,524,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9712:Nlrp10
|
UTSW |
7 |
108,524,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nlrp10
|
UTSW |
7 |
108,525,058 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACATGCTAAGACTCCTGG -3'
(R):5'- TCATGGGATCTGGAATTCTCTC -3'
Sequencing Primer
(F):5'- AAGTGTCTGTCCTTCCTCATC -3'
(R):5'- ATGGGATCTGGAATTCTCTCTCTATG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation