Incidental Mutation 'IGL01374:Nlrp10'
| ID |
78633 |
| 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 # |
IGL01374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
108521060-108529365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108523788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 564
(K564I)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000055745
AA Change: K564I
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000050252
Gene: ENSMUSG00000049709
AA Change: K564I
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,747,830 (GRCm39) |
H54R |
probably benign |
Het |
| Acsl6 |
T |
C |
11: 54,229,245 (GRCm39) |
V359A |
probably damaging |
Het |
| Aldh3a2 |
C |
T |
11: 61,139,828 (GRCm39) |
V435I |
probably benign |
Het |
| Atm |
A |
T |
9: 53,443,024 (GRCm39) |
S80T |
possibly damaging |
Het |
| Atp8b4 |
A |
T |
2: 126,225,577 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
T |
C |
13: 45,721,903 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,250,806 (GRCm39) |
E641G |
probably damaging |
Het |
| Clpb |
T |
C |
7: 101,422,335 (GRCm39) |
V346A |
probably damaging |
Het |
| Ctnnbl1 |
T |
A |
2: 157,678,613 (GRCm39) |
|
probably null |
Het |
| Cyp2b19 |
C |
T |
7: 26,458,504 (GRCm39) |
P73L |
probably benign |
Het |
| Dcc |
T |
C |
18: 71,507,624 (GRCm39) |
Y916C |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,941,647 (GRCm39) |
N180S |
probably damaging |
Het |
| Foxi1 |
A |
C |
11: 34,157,984 (GRCm39) |
C14G |
probably damaging |
Het |
| Fut4 |
G |
T |
9: 14,662,786 (GRCm39) |
F169L |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,885,273 (GRCm39) |
S748P |
probably benign |
Het |
| Hnrnpr |
T |
C |
4: 136,054,729 (GRCm39) |
|
probably benign |
Het |
| Ifnz |
G |
A |
4: 88,701,578 (GRCm39) |
|
probably benign |
Het |
| Krt28 |
A |
G |
11: 99,262,294 (GRCm39) |
V232A |
probably benign |
Het |
| Lyar |
C |
A |
5: 38,385,391 (GRCm39) |
|
probably null |
Het |
| Manba |
G |
A |
3: 135,260,541 (GRCm39) |
W575* |
probably null |
Het |
| Morc3 |
T |
A |
16: 93,641,101 (GRCm39) |
D44E |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,238,469 (GRCm39) |
Y1205* |
probably null |
Het |
| Myh2 |
A |
T |
11: 67,068,250 (GRCm39) |
T293S |
probably benign |
Het |
| Nuak1 |
A |
G |
10: 84,210,532 (GRCm39) |
S519P |
probably damaging |
Het |
| Or12k5 |
T |
C |
2: 36,894,942 (GRCm39) |
H228R |
probably benign |
Het |
| Or9m2 |
T |
C |
2: 87,820,892 (GRCm39) |
F146L |
probably benign |
Het |
| Padi2 |
T |
A |
4: 140,660,496 (GRCm39) |
N325K |
probably damaging |
Het |
| Pcdhb19 |
A |
T |
18: 37,631,042 (GRCm39) |
Y279F |
probably damaging |
Het |
| Phldb1 |
A |
G |
9: 44,607,464 (GRCm39) |
L1247P |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,984,428 (GRCm39) |
V108A |
probably damaging |
Het |
| Slc22a5 |
A |
G |
11: 53,758,490 (GRCm39) |
F437L |
probably benign |
Het |
| Slc3a2 |
C |
T |
19: 8,690,701 (GRCm39) |
|
probably null |
Het |
| Slc5a3 |
T |
A |
16: 91,874,006 (GRCm39) |
M21K |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,122,471 (GRCm39) |
F312Y |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,869,032 (GRCm39) |
Y1531C |
probably damaging |
Het |
| Tln2 |
C |
A |
9: 67,169,205 (GRCm39) |
A433S |
probably damaging |
Het |
| Usp24 |
C |
T |
4: 106,237,296 (GRCm39) |
L1076F |
possibly damaging |
Het |
| Vmn2r117 |
T |
C |
17: 23,697,356 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Vmn2r16 |
C |
T |
5: 109,478,283 (GRCm39) |
L13F |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,857 (GRCm39) |
M707V |
probably benign |
Het |
| Zmym4 |
A |
T |
4: 126,762,750 (GRCm39) |
F1358I |
probably damaging |
Het |
|
| Other mutations in Nlrp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-11-05 |
Incidental Mutation