Incidental Mutation 'R2079:Nlrp10'
ID 229350
Institutional Source Beutler Lab
Gene Symbol Nlrp10
Ensembl Gene ENSMUSG00000049709
Gene Name NLR family, pyrin domain containing 10
Synonyms Nalp10, 6430548I20Rik, Pynod
MMRRC Submission 040084-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2079 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 108521060-108529365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108524835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 215 (L215P)
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: L215P

PolyPhen 2 Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000050252
Gene: ENSMUSG00000049709
AA Change: L215P

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,598,746 (GRCm39) R862S probably benign Het
Aldoa T C 7: 126,396,076 (GRCm39) D164G probably null Het
Ankle2 T C 5: 110,392,371 (GRCm39) V459A probably damaging Het
Atp11a A G 8: 12,907,902 (GRCm39) Y482C probably damaging Het
BC035947 A G 1: 78,488,561 (GRCm39) probably benign Het
Cfap65 G A 1: 74,956,358 (GRCm39) R1074C probably benign Het
Ciart G T 3: 95,786,350 (GRCm39) H242N probably damaging Het
Cidec T A 6: 113,402,615 (GRCm39) M220L probably benign Het
Clca3a1 A G 3: 144,713,534 (GRCm39) I699T possibly damaging Het
Csf2rb2 T C 15: 78,172,207 (GRCm39) D401G probably benign Het
Cyp2j6 C A 4: 96,419,962 (GRCm39) L256F possibly damaging Het
Ddr2 A T 1: 169,832,345 (GRCm39) Y148* probably null Het
Depdc5 T A 5: 33,104,018 (GRCm39) I373N possibly damaging Het
Dpp10 A T 1: 123,360,721 (GRCm39) M268K probably damaging Het
Fam118b C A 9: 35,134,960 (GRCm39) V216F possibly damaging Het
Fancd2 T C 6: 113,532,148 (GRCm39) V487A probably damaging Het
Fhad1 T A 4: 141,718,513 (GRCm39) R147* probably null Het
Flt3 A G 5: 147,291,893 (GRCm39) S544P probably damaging Het
Frem3 C A 8: 81,341,732 (GRCm39) Q1342K probably benign Het
Garin3 T G 11: 46,295,934 (GRCm39) V102G probably benign Het
Gimap4 T C 6: 48,667,881 (GRCm39) M84T possibly damaging Het
Gm20481 T C 17: 35,189,196 (GRCm39) K569R probably benign Het
Gm4871 A C 5: 144,966,741 (GRCm39) D247E possibly damaging Het
Gm5141 A T 13: 62,922,424 (GRCm39) N248K probably benign Het
Gulo A G 14: 66,227,832 (GRCm39) Y367H probably damaging Het
Hap1 T C 11: 100,244,572 (GRCm39) E120G probably damaging Het
Heatr3 T A 8: 88,868,404 (GRCm39) N51K probably damaging Het
Hipk2 T C 6: 38,795,720 (GRCm39) D183G probably damaging Het
Hnrnpll T A 17: 80,342,806 (GRCm39) T439S probably benign Het
Hoxd3 A C 2: 74,574,610 (GRCm39) E85D probably damaging Het
Ipo8 A T 6: 148,690,660 (GRCm39) M694K probably damaging Het
Jag2 A G 12: 112,883,997 (GRCm39) I194T probably damaging Het
Jrkl A T 9: 13,244,864 (GRCm39) F266I probably damaging Het
Kcnt1 A G 2: 25,790,260 (GRCm39) I436V possibly damaging Het
Kdm3b A T 18: 34,936,570 (GRCm39) D284V probably damaging Het
Khdrbs2 A G 1: 32,506,955 (GRCm39) T200A probably benign Het
Kmt2c T C 5: 25,557,278 (GRCm39) D1143G possibly damaging Het
Kremen1 G GGGGT 11: 5,151,794 (GRCm39) probably null Het
Lama2 A C 10: 27,245,049 (GRCm39) I244S probably damaging Het
Lama5 G A 2: 179,867,301 (GRCm39) P99S possibly damaging Het
Lrrc30 A T 17: 67,938,875 (GRCm39) L235Q possibly damaging Het
Man2b2 C T 5: 36,971,716 (GRCm39) V667M possibly damaging Het
Mmp2 T A 8: 93,576,817 (GRCm39) N77K probably damaging Het
Myo1a A G 10: 127,556,482 (GRCm39) E1009G probably benign Het
Ndst1 A G 18: 60,828,581 (GRCm39) Y658H probably damaging Het
Nrbp1 T C 5: 31,408,417 (GRCm39) F526L probably benign Het
Or10p21 T C 10: 128,847,898 (GRCm39) V248A probably damaging Het
Or51t4 T A 7: 102,598,702 (GRCm39) F333L probably benign Het
Padi2 T C 4: 140,660,507 (GRCm39) L329P probably damaging Het
Pcdhb20 A G 18: 37,638,224 (GRCm39) Q250R probably benign Het
Pcdhb3 T A 18: 37,436,362 (GRCm39) L776Q possibly damaging Het
Pik3cb A T 9: 98,942,257 (GRCm39) M700K probably benign Het
Pla2g6 C T 15: 79,197,194 (GRCm39) V127M probably damaging Het
Rabgef1 T C 5: 130,219,776 (GRCm39) S80P probably damaging Het
Sema3a C T 5: 13,501,098 (GRCm39) T47I possibly damaging Het
Sik2 C T 9: 50,818,706 (GRCm39) probably null Het
Sin3a T C 9: 56,996,807 (GRCm39) V112A probably benign Het
Slc26a6 G A 9: 108,736,257 (GRCm39) A472T probably damaging Het
Syne1 A G 10: 5,311,502 (GRCm39) V561A probably benign Het
Syt16 C T 12: 74,285,073 (GRCm39) T422I probably damaging Het
Tlr11 A T 14: 50,598,437 (GRCm39) H141L probably damaging Het
Tmem252 A T 19: 24,655,017 (GRCm39) E131D probably benign Het
Trim55 T G 3: 19,698,830 (GRCm39) L20V probably damaging Het
Uqcrfs1 A T 13: 30,725,291 (GRCm39) V83D probably benign Het
Utf1 C T 7: 139,524,808 (GRCm39) R309* probably null Het
Uxs1 T C 1: 43,804,133 (GRCm39) T261A probably damaging Het
Vmn1r24 T C 6: 57,932,655 (GRCm39) I288V probably benign Het
Vmn1r80 A T 7: 11,927,121 (GRCm39) D77V probably damaging Het
Vmn2r74 T G 7: 85,606,383 (GRCm39) H321P probably benign Het
Zfp638 T C 6: 83,930,371 (GRCm39) probably null Het
Zwilch T A 9: 64,060,856 (GRCm39) Q332L probably damaging Het
Zwilch G T 9: 64,060,857 (GRCm39) Q332K probably damaging 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
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
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'- AGAAGGGAGCATGGTACCTC -3'
(R):5'- TTCCTGTTCTGACCTGGAAC -3'

Sequencing Primer
(F):5'- GGAGCATGGTACCTCCCTTC -3'
(R):5'- GATCCTGTCGATGTGGAGAC -3'
Posted On 2014-09-17