Incidental Mutation 'R1248:Nlrp10'
| ID |
152190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp10
|
| Ensembl Gene |
ENSMUSG00000049709 |
| Gene Name |
NLR family, pyrin domain containing 10 |
| Synonyms |
Nalp10, 6430548I20Rik, Pynod |
| MMRRC Submission |
039315-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
108521060-108529365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108525088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 131
(R131C)
|
| 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: R131C
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000050252
Gene: ENSMUSG00000049709
AA Change: R131C
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (43/44) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,271,054 (GRCm39) |
F863Y |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,847 (GRCm39) |
E219G |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,564,399 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ap5z1 |
C |
A |
5: 142,460,255 (GRCm39) |
S511R |
probably benign |
Het |
| Arhgap11a |
T |
A |
2: 113,664,447 (GRCm39) |
H612L |
possibly damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,794,153 (GRCm39) |
S118Y |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,340,836 (GRCm39) |
M38K |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,599,481 (GRCm39) |
E773D |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,742,001 (GRCm39) |
M212V |
probably benign |
Het |
| Dmtn |
C |
T |
14: 70,850,098 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,832,887 (GRCm39) |
|
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,410,358 (GRCm39) |
N184S |
probably benign |
Het |
| Fam98c |
A |
G |
7: 28,852,265 (GRCm39) |
M98T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,143,529 (GRCm39) |
K2867E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,820,107 (GRCm39) |
E5280V |
possibly damaging |
Het |
| Fuom |
T |
C |
7: 139,679,631 (GRCm39) |
|
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,118,512 (GRCm38) |
S204T |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,288,617 (GRCm39) |
F23L |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,489,213 (GRCm39) |
R334L |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,758,228 (GRCm39) |
S712P |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,932,843 (GRCm39) |
S573I |
probably damaging |
Het |
| Lrp11 |
A |
G |
10: 7,480,058 (GRCm39) |
H371R |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,466,303 (GRCm39) |
I520N |
probably damaging |
Het |
| Nagpa |
G |
T |
16: 5,016,480 (GRCm39) |
C236* |
probably null |
Het |
| Nktr |
A |
G |
9: 121,556,436 (GRCm39) |
N38S |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,231,211 (GRCm39) |
D386G |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,100,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,121,755 (GRCm39) |
|
probably benign |
Het |
| S100a4 |
G |
T |
3: 90,513,084 (GRCm39) |
S60I |
possibly damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,059,905 (GRCm39) |
G184C |
probably damaging |
Het |
| Slc25a46 |
C |
T |
18: 31,742,807 (GRCm39) |
D20N |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,622,509 (GRCm39) |
K695E |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,653,955 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
G |
10: 23,836,936 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ttll1 |
C |
G |
15: 83,386,326 (GRCm39) |
S93T |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,443,008 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,643 (GRCm39) |
N457S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,396 (GRCm39) |
E528G |
probably benign |
Het |
| Zfp52 |
A |
C |
17: 21,780,311 (GRCm39) |
E53A |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTACAGCTTCCCTTTGGACCAGTC -3'
(R):5'- TGCTGGGTAGTCTTTAGCTCTGACC -3'
Sequencing Primer
(F):5'- TTTGGACCAGTCCTGCAC -3'
(R):5'- catacacacacacacacacac -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation