Incidental Mutation 'IGL03129:Nlrp10'
| ID |
410254 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nlrp10
|
| Ensembl Gene |
ENSMUSG00000049709 |
| Gene Name |
NLR family, pyrin domain containing 10 |
| Synonyms |
Nalp10, 6430548I20Rik, Pynod |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
108521060-108529365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108524118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 454
(F454Y)
|
| 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 damaging
Transcript: ENSMUST00000055745
AA Change: F454Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050252
Gene: ENSMUSG00000049709
AA Change: F454Y
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,238 (GRCm39) |
V403A |
probably damaging |
Het |
| Adpgk |
T |
C |
9: 59,221,088 (GRCm39) |
L298P |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,187,089 (GRCm39) |
D1501V |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,791,061 (GRCm39) |
Y2478* |
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,749,584 (GRCm39) |
Y417H |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,011,521 (GRCm39) |
F2511L |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,762,446 (GRCm39) |
M602V |
possibly damaging |
Het |
| Efna2 |
G |
A |
10: 80,024,346 (GRCm39) |
|
probably null |
Het |
| Fzd8 |
T |
C |
18: 9,214,270 (GRCm39) |
S451P |
probably damaging |
Het |
| Galntl6 |
A |
T |
8: 58,880,750 (GRCm39) |
D134E |
probably damaging |
Het |
| Grid2 |
T |
C |
6: 64,040,888 (GRCm39) |
S277P |
probably damaging |
Het |
| Lcn2 |
A |
G |
2: 32,277,716 (GRCm39) |
V91A |
possibly damaging |
Het |
| Lrp1b |
G |
A |
2: 41,202,478 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,866,696 (GRCm39) |
Y1015F |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,729,994 (GRCm39) |
C2779S |
possibly damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,684 (GRCm39) |
L213Q |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,087 (GRCm39) |
Y58F |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,248,043 (GRCm39) |
M486V |
probably benign |
Het |
| Plcg1 |
A |
C |
2: 160,616,446 (GRCm39) |
|
probably null |
Het |
| Polr1b |
G |
A |
2: 128,957,627 (GRCm39) |
V561I |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,626,770 (GRCm39) |
|
probably benign |
Het |
| Prkg1 |
T |
A |
19: 30,562,681 (GRCm39) |
K523* |
probably null |
Het |
| Prss3l |
T |
C |
6: 41,420,432 (GRCm39) |
N98S |
probably benign |
Het |
| Sema3b |
T |
A |
9: 107,476,995 (GRCm39) |
|
probably benign |
Het |
| Sp9 |
A |
G |
2: 73,103,865 (GRCm39) |
T140A |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,493,631 (GRCm39) |
R471G |
probably damaging |
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 |
|
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 |
|
|
R3616: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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation