Incidental Mutation 'R5696:Nlrp9b'
ID 450667
Institutional Source Beutler Lab
Gene Symbol Nlrp9b
Ensembl Gene ENSMUSG00000060508
Gene Name NLR family, pyrin domain containing 9B
Synonyms Nalp9b, Nalp-delta
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5696 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 19725318-19796867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19758417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 551 (R551S)
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: R551S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: R551S

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,569,159 (GRCm39) R186W probably benign Het
Afg3l2 A G 18: 67,540,529 (GRCm39) I660T probably damaging Het
Amtn T A 5: 88,532,944 (GRCm39) Y186* probably null Het
Atosa A G 9: 74,917,399 (GRCm39) E666G probably benign Het
Atrip A G 9: 108,894,569 (GRCm39) S453P possibly damaging Het
Bahcc1 T C 11: 120,164,813 (GRCm39) L840P probably damaging Het
Capn2 T C 1: 182,306,165 (GRCm39) E527G possibly damaging Het
Caprin2 A T 6: 148,779,316 (GRCm39) Y164N possibly damaging Het
Ccnh T A 13: 85,344,446 (GRCm39) probably null Het
Cdon G T 9: 35,403,162 (GRCm39) V1091F possibly damaging Het
Ceacam14 A G 7: 17,548,267 (GRCm39) Y119C probably damaging Het
Ces2h A G 8: 105,745,611 (GRCm39) K445E possibly damaging Het
Cfap46 A G 7: 139,191,947 (GRCm39) S2357P probably damaging Het
Commd4 A T 9: 57,063,499 (GRCm39) S86R possibly damaging Het
Cpsf6 A T 10: 117,196,934 (GRCm39) probably benign Het
Dag1 A T 9: 108,086,646 (GRCm39) V165E probably benign Het
Dmxl1 A T 18: 50,065,008 (GRCm39) K2618* probably null Het
Dnah17 A G 11: 117,991,882 (GRCm39) Y1229H probably benign Het
Endov T A 11: 119,382,625 (GRCm39) L24Q probably damaging Het
Fap C T 2: 62,332,803 (GRCm39) V717M probably damaging Het
Fbxl2 A G 9: 113,815,546 (GRCm39) L239P probably damaging Het
Fbxl5 A T 5: 43,916,182 (GRCm39) V367D possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Gbp8 C T 5: 105,166,682 (GRCm39) V216I possibly damaging Het
Gclm G A 3: 122,059,936 (GRCm39) A239T probably benign Het
Gm11569 C T 11: 99,689,556 (GRCm39) probably benign Het
Gnas C A 2: 174,141,468 (GRCm39) probably benign Het
Grb10 T A 11: 11,883,566 (GRCm39) N508I probably benign Het
Gykl1 T G 18: 52,827,267 (GRCm39) I158M probably benign Het
Ide G A 19: 37,295,420 (GRCm39) T214M unknown Het
Il12rb2 T A 6: 67,272,262 (GRCm39) Q341H possibly damaging Het
Ints1 T C 5: 139,740,744 (GRCm39) E1946G probably benign Het
Kdelr3 T C 15: 79,410,100 (GRCm39) probably null Het
Kif1b A C 4: 149,358,306 (GRCm39) probably null Het
Kri1 A G 9: 21,191,533 (GRCm39) I320T probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lin9 T C 1: 180,486,646 (GRCm39) S111P probably benign Het
Lpcat2b C A 5: 107,580,773 (GRCm39) P34Q probably damaging Het
Ltk T A 2: 119,590,080 (GRCm39) T49S probably benign Het
Map3k9 A T 12: 81,780,896 (GRCm39) H421Q probably benign Het
Mapkbp1 T A 2: 119,852,201 (GRCm39) probably null Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Nek10 T A 14: 14,860,736 (GRCm38) probably null Het
Nol4l T C 2: 153,260,026 (GRCm39) T143A probably damaging Het
Or1r1 T C 11: 73,875,362 (GRCm39) H24R possibly damaging Het
Or51g1 T A 7: 102,633,748 (GRCm39) T208S probably benign Het
Or6z5 T C 7: 6,477,742 (GRCm39) probably null Het
Or7a39 A T 10: 78,715,919 (GRCm39) R304S probably benign Het
Pde4dip G T 3: 97,616,806 (GRCm39) A1812D probably damaging Het
Plekhb1 C A 7: 100,305,960 (GRCm39) G26C probably damaging Het
Polr1a T A 6: 71,906,410 (GRCm39) F409I probably benign Het
Ptpn13 T A 5: 103,702,625 (GRCm39) M1197K probably benign Het
Qrich2 T C 11: 116,335,828 (GRCm39) I2114V probably damaging Het
Rbm27 T C 18: 42,450,731 (GRCm39) Y449H probably damaging Het
Rp1l1 A G 14: 64,267,195 (GRCm39) D927G probably damaging Het
Secisbp2 C A 13: 51,833,857 (GRCm39) Q666K probably damaging Het
Slc45a2 T C 15: 11,001,219 (GRCm39) I106T probably damaging Het
Slx4 G T 16: 3,797,831 (GRCm39) Q1518K probably damaging Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Son T C 16: 91,468,301 (GRCm39) V306A possibly damaging Het
Stab1 A G 14: 30,882,178 (GRCm39) S506P probably benign Het
Syne2 A C 12: 76,040,919 (GRCm39) D3859A probably benign Het
Tab1 T A 15: 80,032,930 (GRCm39) Y71* probably null Het
Tarbp1 A C 8: 127,174,079 (GRCm39) M909R probably damaging Het
Tex15 T G 8: 34,063,220 (GRCm39) S1157R probably benign Het
Tnni3 G A 7: 4,523,453 (GRCm39) T120I probably benign Het
Ttn T C 2: 76,747,888 (GRCm39) E4387G probably benign Het
Ugt3a1 G A 15: 9,361,534 (GRCm39) silent Het
Unc5d T C 8: 29,156,870 (GRCm39) I783V probably benign Het
Usp40 T C 1: 87,923,474 (GRCm39) T266A probably benign Het
Vmn2r59 C T 7: 41,695,468 (GRCm39) V315I probably benign Het
Zbtb48 G T 4: 152,105,067 (GRCm39) H532N probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly damaging 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
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
R7690:Nlrp9b UTSW 7 19,758,295 (GRCm39) missense probably benign 0.00
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'- GAAACATGTATGCTCGTGGC -3'
(R):5'- TTTACAATGGTCTGGGCAGTAG -3'

Sequencing Primer
(F):5'- ACATGTATGCTCGTGGCCAGAC -3'
(R):5'- ACAATGGTCTGGGCAGTAGATTTC -3'
Posted On 2017-01-03