Incidental Mutation 'R6935:Nlrp10'
| ID |
540248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp10
|
| Ensembl Gene |
ENSMUSG00000049709 |
| Gene Name |
NLR family, pyrin domain containing 10 |
| Synonyms |
Nalp10, 6430548I20Rik, Pynod |
| MMRRC Submission |
045008-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6935 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
108521060-108529365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108526107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 77
(M77K)
|
| 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: M77K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000050252
Gene: ENSMUSG00000049709
AA Change: M77K
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
| Validation Efficiency |
98% (41/42) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
A |
14: 35,533,864 (GRCm39) |
H14L |
probably benign |
Het |
| Adar |
A |
G |
3: 89,654,525 (GRCm39) |
N368D |
probably benign |
Het |
| Adcy10 |
T |
C |
1: 165,334,204 (GRCm39) |
V71A |
probably benign |
Het |
| Ank1 |
C |
T |
8: 23,598,247 (GRCm39) |
T755I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,885,161 (GRCm39) |
Y632F |
probably damaging |
Het |
| Bbc3 |
A |
G |
7: 16,046,124 (GRCm39) |
D20G |
possibly damaging |
Het |
| Bche |
T |
G |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
| Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
G |
9: 79,607,782 (GRCm39) |
Y349H |
possibly damaging |
Het |
| Crip2 |
T |
C |
12: 113,104,213 (GRCm39) |
C8R |
probably damaging |
Het |
| Dhx58 |
T |
A |
11: 100,589,232 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,312,567 (GRCm39) |
R4333C |
probably damaging |
Het |
| Dnajb12 |
T |
C |
10: 59,732,325 (GRCm39) |
|
probably null |
Het |
| Dzank1 |
T |
C |
2: 144,318,014 (GRCm39) |
E718G |
possibly damaging |
Het |
| Erfl |
C |
A |
7: 24,627,986 (GRCm39) |
G181V |
possibly damaging |
Het |
| Fbxo28 |
C |
T |
1: 182,169,025 (GRCm39) |
G38R |
unknown |
Het |
| Foxb2 |
A |
G |
19: 16,849,983 (GRCm39) |
F341S |
probably benign |
Het |
| Gabrb3 |
T |
A |
7: 57,241,561 (GRCm39) |
I29N |
probably damaging |
Het |
| Gm7298 |
G |
A |
6: 121,744,653 (GRCm39) |
R557H |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,634,659 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,149 (GRCm39) |
Y480C |
probably damaging |
Het |
| Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,169,824 (GRCm39) |
Y113C |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,340,087 (GRCm39) |
P1453S |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,774,041 (GRCm39) |
F5551V |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,619,820 (GRCm39) |
M1457K |
probably benign |
Het |
| Nbeal2 |
T |
A |
9: 110,468,459 (GRCm39) |
E372V |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,323,879 (GRCm39) |
S508T |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,353,637 (GRCm39) |
D971E |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,321,825 (GRCm39) |
N174S |
probably damaging |
Het |
| Or52ad1 |
A |
T |
7: 102,996,002 (GRCm39) |
N44K |
probably damaging |
Het |
| Or8c18 |
G |
T |
9: 38,203,413 (GRCm39) |
M57I |
probably benign |
Het |
| Pidd1 |
A |
T |
7: 141,020,215 (GRCm39) |
D570E |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,001,631 (GRCm39) |
D427G |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,441,575 (GRCm39) |
Y364C |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,319,388 (GRCm39) |
S142G |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,694,322 (GRCm39) |
V174A |
probably damaging |
Het |
| Rhbdl3 |
C |
T |
11: 80,228,322 (GRCm39) |
A264V |
probably damaging |
Het |
| Sh3bp5 |
T |
A |
14: 31,101,473 (GRCm39) |
M170L |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,799,793 (GRCm39) |
F125L |
possibly damaging |
Het |
| Slc6a4 |
T |
C |
11: 76,917,994 (GRCm39) |
Y579H |
probably benign |
Het |
| Tmem106b |
A |
T |
6: 13,081,554 (GRCm39) |
T154S |
possibly damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,382,189 (GRCm39) |
D455G |
possibly 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 |
|
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 |
|
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'- TGTACCCAACATTCTTCAGACC -3'
(R):5'- TTGGGCCTTGAATGACCTTG -3'
Sequencing Primer
(F):5'- GAGACTATCTTAGACTCTGGGAACC -3'
(R):5'- TGACCTTGAGGAGAACAGTTTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation