Incidental Mutation 'IGL02043:Nlrp10'
ID 184830
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) question?
Stock # IGL02043
Quality Score
Status
Chromosome 7
Chromosomal Location 108521060-108529365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108524709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 257 (E257G)
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: E257G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050252
Gene: ENSMUSG00000049709
AA Change: E257G

DomainStartEndE-ValueType
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Nlrp10
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2014-05-07