Incidental Mutation 'R7690:Nlrp9b'
ID 593334
Institutional Source Beutler Lab
Gene Symbol Nlrp9b
Ensembl Gene ENSMUSG00000060508
Gene Name NLR family, pyrin domain containing 9B
Synonyms Nalp9b, Nalp-delta
MMRRC Submission 045754-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7690 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 19725318-19796867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 19758295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 511 (P511T)
Ref Sequence ENSEMBL: ENSMUSP00000072895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073151] [ENSMUST00000117909] [ENSMUST00000137183]
AlphaFold Q66X22
Predicted Effect probably benign
Transcript: ENSMUST00000073151
AA Change: P511T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: P511T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (57/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,353,313 (GRCm39) T710S probably benign Het
Adgrl2 A G 3: 148,522,934 (GRCm39) L430P Het
Agap1 T C 1: 89,770,793 (GRCm39) S648P probably benign Het
Alox5 T C 6: 116,392,417 (GRCm39) H368R probably damaging Het
Ano2 T C 6: 125,990,161 (GRCm39) F761L probably damaging Het
Aox4 T C 1: 58,303,076 (GRCm39) V1169A probably damaging Het
Apbb1ip T A 2: 22,706,996 (GRCm39) M11K unknown Het
Arl5a G T 2: 52,302,077 (GRCm39) H112Q possibly damaging Het
Ccdc18 C T 5: 108,376,528 (GRCm39) T1323I probably benign Het
Cmtm5 G A 14: 55,173,938 (GRCm39) probably benign Het
Cul2 T C 18: 3,419,420 (GRCm39) Y194H probably benign Het
Daglb T C 5: 143,479,938 (GRCm39) I415T possibly damaging Het
Ddx28 A G 8: 106,736,963 (GRCm39) V365A probably damaging Het
Dnah6 T C 6: 73,146,063 (GRCm39) probably null Het
Eppk1 T A 15: 75,995,946 (GRCm39) T312S probably benign Het
Erich4 C A 7: 25,314,710 (GRCm39) V68L possibly damaging Het
Fam171a2 G A 11: 102,328,660 (GRCm39) P700S probably benign Het
Fat3 T C 9: 15,909,477 (GRCm39) N2175S probably damaging Het
Fcrl6 T G 1: 172,426,223 (GRCm39) R191S probably damaging Het
Fpgt A G 3: 154,793,467 (GRCm39) S187P probably damaging Het
Gapvd1 T G 2: 34,619,134 (GRCm39) T80P possibly damaging Het
Gclm A G 3: 122,039,705 (GRCm39) N24S probably damaging Het
Gdf15 A G 8: 71,083,997 (GRCm39) I89T possibly damaging Het
Gpn2 A G 4: 133,318,693 (GRCm39) E306G probably damaging Het
Iars2 A T 1: 185,053,194 (GRCm39) L359Q probably damaging Het
Kbtbd4 T G 2: 90,736,240 (GRCm39) C84G possibly damaging Het
Manea A G 4: 26,327,910 (GRCm39) V377A probably benign Het
Map4 C T 9: 109,828,861 (GRCm39) T82I probably damaging Het
Mocos C T 18: 24,797,082 (GRCm39) H81Y probably damaging Het
Mtx1 T A 3: 89,120,088 (GRCm39) T87S Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myom2 A T 8: 15,161,717 (GRCm39) probably null Het
Mzt1 C T 14: 99,278,024 (GRCm39) C48Y probably damaging Het
Noc2l A G 4: 156,322,088 (GRCm39) E135G probably benign Het
Nova1 G A 12: 46,767,549 (GRCm39) P124L unknown Het
Pax8 T A 2: 24,331,682 (GRCm39) T134S probably benign Het
Pde4a T A 9: 21,077,300 (GRCm39) L26Q probably damaging Het
Pde6b G A 5: 108,567,384 (GRCm39) E254K probably damaging Het
Pdlim7 A G 13: 55,656,744 (GRCm39) I70T probably damaging Het
Pinx1 T A 14: 64,101,660 (GRCm39) probably null Het
Pomt2 C A 12: 87,177,141 (GRCm39) R352L probably damaging Het
Rapgef5 G A 12: 117,685,105 (GRCm39) V519I possibly damaging Het
Rnps1 A G 17: 24,637,168 (GRCm39) E16G unknown Het
Slc4a5 T C 6: 83,262,854 (GRCm39) F782S probably damaging Het
Snap91 A G 9: 86,707,031 (GRCm39) V253A possibly damaging Het
Syce3 T C 15: 89,281,544 (GRCm39) M32V possibly damaging Het
Tcaf3 C A 6: 42,574,069 (GRCm39) V48L probably damaging Het
Tenm4 T C 7: 96,512,740 (GRCm39) V1366A probably benign Het
Tnxb G A 17: 34,908,494 (GRCm39) M1382I probably benign Het
Tnxb G A 17: 34,908,501 (GRCm39) G1385R probably damaging Het
Top3a G T 11: 60,647,206 (GRCm39) L238I probably damaging Het
Trim9 A T 12: 70,295,117 (GRCm39) N742K probably benign Het
Trp63 T A 16: 25,695,483 (GRCm39) Y482N unknown Het
Ttc23 T G 7: 67,319,918 (GRCm39) F192V possibly damaging Het
Uck1 A G 2: 32,148,184 (GRCm39) V180A probably benign Het
Vwa5b1 G A 4: 138,318,244 (GRCm39) T541I probably damaging Het
Zfp456 G T 13: 67,514,913 (GRCm39) H264Q probably damaging Het
Zfpm2 T G 15: 40,818,162 (GRCm39) V165G possibly damaging Het
Zup1 C T 10: 33,806,151 (GRCm39) probably null Het
Other mutations in Nlrp9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Nlrp9b APN 7 19,757,203 (GRCm39) missense probably benign 0.43
IGL00675:Nlrp9b APN 7 19,757,111 (GRCm39) missense possibly damaging 0.63
IGL00755:Nlrp9b APN 7 19,757,447 (GRCm39) missense probably damaging 1.00
IGL01131:Nlrp9b APN 7 19,757,462 (GRCm39) missense probably damaging 1.00
IGL01134:Nlrp9b APN 7 19,757,112 (GRCm39) missense probably benign 0.06
IGL01464:Nlrp9b APN 7 19,796,580 (GRCm39) missense probably benign 0.00
IGL01514:Nlrp9b APN 7 19,779,859 (GRCm39) critical splice donor site probably null
IGL01731:Nlrp9b APN 7 19,757,342 (GRCm39) nonsense probably null
IGL02427:Nlrp9b APN 7 19,776,426 (GRCm39) missense probably damaging 1.00
IGL03013:Nlrp9b APN 7 19,782,750 (GRCm39) missense probably damaging 1.00
R0037:Nlrp9b UTSW 7 19,757,647 (GRCm39) missense probably damaging 0.99
R0114:Nlrp9b UTSW 7 19,757,981 (GRCm39) missense probably benign 0.00
R0276:Nlrp9b UTSW 7 19,762,423 (GRCm39) missense probably benign 0.21
R0346:Nlrp9b UTSW 7 19,758,440 (GRCm39) missense probably damaging 0.99
R0736:Nlrp9b UTSW 7 19,783,375 (GRCm39) missense probably damaging 1.00
R1449:Nlrp9b UTSW 7 19,757,089 (GRCm39) missense possibly damaging 0.91
R1540:Nlrp9b UTSW 7 19,782,772 (GRCm39) nonsense probably null
R1648:Nlrp9b UTSW 7 19,760,469 (GRCm39) missense possibly damaging 0.89
R1878:Nlrp9b UTSW 7 19,762,489 (GRCm39) missense probably benign 0.01
R1903:Nlrp9b UTSW 7 19,757,182 (GRCm39) missense probably benign 0.44
R2191:Nlrp9b UTSW 7 19,757,587 (GRCm39) missense probably benign
R4572:Nlrp9b UTSW 7 19,760,606 (GRCm39) critical splice donor site probably null
R4863:Nlrp9b UTSW 7 19,783,521 (GRCm39) critical splice donor site probably null
R4939:Nlrp9b UTSW 7 19,758,421 (GRCm39) missense probably damaging 0.99
R5211:Nlrp9b UTSW 7 19,783,381 (GRCm39) missense probably damaging 1.00
R5329:Nlrp9b UTSW 7 19,757,916 (GRCm39) missense probably damaging 1.00
R5580:Nlrp9b UTSW 7 19,757,089 (GRCm39) missense probably damaging 0.98
R5696:Nlrp9b UTSW 7 19,758,417 (GRCm39) missense probably benign 0.02
R6265:Nlrp9b UTSW 7 19,796,608 (GRCm39) missense probably benign
R6456:Nlrp9b UTSW 7 19,782,703 (GRCm39) missense probably damaging 1.00
R6672:Nlrp9b UTSW 7 19,753,263 (GRCm39) missense probably damaging 1.00
R6750:Nlrp9b UTSW 7 19,757,159 (GRCm39) nonsense probably null
R6896:Nlrp9b UTSW 7 19,757,170 (GRCm39) missense probably damaging 0.96
R6968:Nlrp9b UTSW 7 19,783,433 (GRCm39) missense probably damaging 1.00
R7108:Nlrp9b UTSW 7 19,779,855 (GRCm39) missense probably damaging 1.00
R7287:Nlrp9b UTSW 7 19,762,381 (GRCm39) missense probably damaging 0.97
R7297:Nlrp9b UTSW 7 19,783,438 (GRCm39) missense possibly damaging 0.81
R7485:Nlrp9b UTSW 7 19,757,875 (GRCm39) missense probably damaging 1.00
R7552:Nlrp9b UTSW 7 19,779,691 (GRCm39) missense probably benign 0.04
R7573:Nlrp9b UTSW 7 19,753,125 (GRCm39) missense probably damaging 1.00
R7839:Nlrp9b UTSW 7 19,758,398 (GRCm39) missense possibly damaging 0.49
R7913:Nlrp9b UTSW 7 19,779,725 (GRCm39) missense probably benign 0.07
R7968:Nlrp9b UTSW 7 19,762,493 (GRCm39) missense probably benign 0.01
R8113:Nlrp9b UTSW 7 19,753,260 (GRCm39) missense probably benign 0.02
R8273:Nlrp9b UTSW 7 19,757,986 (GRCm39) missense possibly damaging 0.89
R8400:Nlrp9b UTSW 7 19,757,937 (GRCm39) nonsense probably null
R9047:Nlrp9b UTSW 7 19,757,401 (GRCm39) missense possibly damaging 0.80
R9224:Nlrp9b UTSW 7 19,757,476 (GRCm39) missense probably benign 0.44
R9224:Nlrp9b UTSW 7 19,753,217 (GRCm39) missense probably benign 0.00
R9291:Nlrp9b UTSW 7 19,758,511 (GRCm39) missense possibly damaging 0.80
R9348:Nlrp9b UTSW 7 19,757,336 (GRCm39) missense probably damaging 1.00
R9398:Nlrp9b UTSW 7 19,783,435 (GRCm39) missense probably damaging 1.00
R9442:Nlrp9b UTSW 7 19,779,707 (GRCm39) missense possibly damaging 0.84
R9495:Nlrp9b UTSW 7 19,760,462 (GRCm39) missense possibly damaging 0.64
R9598:Nlrp9b UTSW 7 19,753,302 (GRCm39) missense probably benign 0.17
R9757:Nlrp9b UTSW 7 19,782,617 (GRCm39) missense probably damaging 1.00
X0064:Nlrp9b UTSW 7 19,782,683 (GRCm39) missense probably damaging 1.00
Z1088:Nlrp9b UTSW 7 19,757,668 (GRCm39) missense probably benign 0.01
Z1177:Nlrp9b UTSW 7 19,760,571 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCATGTTCTATTTCCTCAAACAAG -3'
(R):5'- AGGATTTCTGCAGAGCATATGC -3'

Sequencing Primer
(F):5'- GTTCTATTTCCTCAAACAAGACAAAG -3'
(R):5'- GCAGAGCATATGCAGTCACTG -3'
Posted On 2019-11-12