Incidental Mutation 'R0037:Nlrp9b'
ID15615
Institutional Source Beutler Lab
Gene Symbol Nlrp9b
Ensembl Gene ENSMUSG00000060508
Gene NameNLR family, pyrin domain containing 9B
SynonymsNalp-delta, Nalp9b
MMRRC Submission 038331-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0037 (G1)
Quality Score
Status Validated
Chromosome7
Chromosomal Location19991465-20073306 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 20023722 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 295 (F295I)
Ref Sequence ENSEMBL: ENSMUSP00000072895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073151] [ENSMUST00000117909] [ENSMUST00000137183] [ENSMUST00000207805]
Predicted Effect probably damaging
Transcript: ENSMUST00000073151
AA Change: F295I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: F295I

DomainStartEndE-ValueType
PYRIN 5 87 2.08e-23 SMART
Pfam:NACHT 143 311 4.3e-34 PFAM
low complexity region 580 595 N/A INTRINSIC
LRR 630 657 2.16e2 SMART
LRR 691 718 2.23e2 SMART
LRR 747 774 6.67e-2 SMART
LRR 776 803 3.65e0 SMART
LRR 804 831 5.59e-4 SMART
LRR 833 860 2.81e0 SMART
LRR 861 888 8.87e-7 SMART
LRR 890 917 9.24e1 SMART
Blast:LRR 918 945 2e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000117909
SMART Domains Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508

DomainStartEndE-ValueType
PYRIN 5 87 2.08e-23 SMART
Pfam:NACHT 143 179 2.8e-6 PFAM
LRR 190 217 2.16e2 SMART
LRR 251 278 2.23e2 SMART
LRR 307 334 6.67e-2 SMART
LRR 336 363 3.65e0 SMART
LRR 364 391 5.59e-4 SMART
LRR 393 420 2.81e0 SMART
Pfam:Chromo_shadow 450 501 2.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137183
SMART Domains Protein: ENSMUSP00000115158
Gene: ENSMUSG00000060508

DomainStartEndE-ValueType
PYRIN 5 87 2.08e-23 SMART
Pfam:NACHT 143 240 1.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207805
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 73.9%
  • 10x: 52.8%
  • 20x: 32.9%
Validation Efficiency 94% (83/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NALP protein family. 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). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]
PHENOTYPE: The protein protects against rotavirus infection. Homozygous KO leads to increased susceptibility to infection and greater severity of pathology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars G A 8: 111,043,259 R330Q possibly damaging Het
Amph A T 13: 19,100,653 S250C possibly damaging Het
Ankrd61 T C 5: 143,894,977 N3S probably damaging Het
Camsap2 C T 1: 136,281,892 E621K probably damaging Het
Cpt2 A G 4: 107,907,974 S152P probably damaging Het
Csmd1 T A 8: 15,917,248 Q3205L probably damaging Het
Dag1 G T 9: 108,207,353 P863Q probably damaging Het
Dclk1 A G 3: 55,256,059 I191V probably benign Het
Ddhd1 A G 14: 45,610,510 L567P probably damaging Het
Enox1 T C 14: 77,699,310 probably benign Het
Exoc3 T C 13: 74,199,539 E104G probably damaging Het
Foxp1 T A 6: 99,162,969 Q17L probably damaging Het
Fscn1 A G 5: 142,970,694 probably benign Het
Fut8 T C 12: 77,365,037 V91A probably benign Het
Gm5475 T A 15: 100,424,202 Y77* probably null Het
Gm5800 T C 14: 51,716,148 probably benign Het
Hs2st1 T A 3: 144,437,644 K213* probably null Het
Il5ra T A 6: 106,742,686 Y62F probably damaging Het
Inpp5d A G 1: 87,708,129 E734G probably damaging Het
Insig2 A T 1: 121,306,920 C194S probably damaging Het
Lemd3 A C 10: 120,925,456 H898Q possibly damaging Het
Lrp4 A G 2: 91,471,203 T43A probably benign Het
Mast3 C T 8: 70,783,699 probably null Het
Melk T C 4: 44,360,864 probably benign Het
Myo10 C T 15: 25,666,532 probably benign Het
Nlrc5 G A 8: 94,489,535 V967M probably benign Het
Phf3 A T 1: 30,804,918 D1653E probably benign Het
Ppfia4 A T 1: 134,324,089 L449Q probably damaging Het
Ppp1r16b T A 2: 158,757,209 I367N probably damaging Het
Ralgapb T C 2: 158,437,411 L139S probably damaging Het
Slc20a1 T C 2: 129,210,772 V658A probably damaging Het
Son C A 16: 91,664,728 A347E probably damaging Het
Tprgl C A 4: 154,160,137 V134L possibly damaging Het
Trim24 A T 6: 37,957,549 N733I probably damaging Het
Uggt1 A T 1: 36,185,932 D540E probably benign Het
Urb2 T A 8: 124,047,195 F1488L probably damaging Het
Utp20 T C 10: 88,798,404 D810G probably benign Het
Zfp473 T A 7: 44,733,900 K335N probably damaging Het
Other mutations in Nlrp9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Nlrp9b APN 7 20023278 missense probably benign 0.43
IGL00675:Nlrp9b APN 7 20023186 missense possibly damaging 0.63
IGL00755:Nlrp9b APN 7 20023522 missense probably damaging 1.00
IGL01131:Nlrp9b APN 7 20023537 missense probably damaging 1.00
IGL01134:Nlrp9b APN 7 20023187 missense probably benign 0.06
IGL01464:Nlrp9b APN 7 20062655 missense probably benign 0.00
IGL01514:Nlrp9b APN 7 20045934 critical splice donor site probably null
IGL01731:Nlrp9b APN 7 20023417 nonsense probably null
IGL02427:Nlrp9b APN 7 20042501 missense probably damaging 1.00
IGL03013:Nlrp9b APN 7 20048825 missense probably damaging 1.00
R0114:Nlrp9b UTSW 7 20024056 missense probably benign 0.00
R0276:Nlrp9b UTSW 7 20028498 missense probably benign 0.21
R0346:Nlrp9b UTSW 7 20024515 missense probably damaging 0.99
R0736:Nlrp9b UTSW 7 20049450 missense probably damaging 1.00
R1449:Nlrp9b UTSW 7 20023164 missense possibly damaging 0.91
R1540:Nlrp9b UTSW 7 20048847 nonsense probably null
R1648:Nlrp9b UTSW 7 20026544 missense possibly damaging 0.89
R1878:Nlrp9b UTSW 7 20028564 missense probably benign 0.01
R1903:Nlrp9b UTSW 7 20023257 missense probably benign 0.44
R2191:Nlrp9b UTSW 7 20023662 missense probably benign
R4572:Nlrp9b UTSW 7 20026681 critical splice donor site probably null
R4863:Nlrp9b UTSW 7 20049596 critical splice donor site probably null
R4939:Nlrp9b UTSW 7 20024496 missense probably damaging 0.99
R5211:Nlrp9b UTSW 7 20049456 missense probably damaging 1.00
R5329:Nlrp9b UTSW 7 20023991 missense probably damaging 1.00
R5580:Nlrp9b UTSW 7 20023164 missense probably damaging 0.98
R5696:Nlrp9b UTSW 7 20024492 missense probably benign 0.02
R6265:Nlrp9b UTSW 7 20062683 missense probably benign
R6456:Nlrp9b UTSW 7 20048778 missense probably damaging 1.00
R6672:Nlrp9b UTSW 7 20019338 missense probably damaging 1.00
R6750:Nlrp9b UTSW 7 20023234 nonsense probably null
R6896:Nlrp9b UTSW 7 20023245 missense probably damaging 0.96
R6968:Nlrp9b UTSW 7 20049508 missense probably damaging 1.00
R7108:Nlrp9b UTSW 7 20045930 missense probably damaging 1.00
R7287:Nlrp9b UTSW 7 20028456 missense probably damaging 0.97
R7297:Nlrp9b UTSW 7 20049513 missense possibly damaging 0.81
R7485:Nlrp9b UTSW 7 20023950 missense probably damaging 1.00
R7552:Nlrp9b UTSW 7 20045766 missense probably benign 0.04
R7573:Nlrp9b UTSW 7 20019200 missense probably damaging 1.00
R7690:Nlrp9b UTSW 7 20024370
X0064:Nlrp9b UTSW 7 20048758 missense probably damaging 1.00
Z1088:Nlrp9b UTSW 7 20023743 missense probably benign 0.01
Posted On2012-12-21