Incidental Mutation 'R6265:Nlrp9b'
ID 506945
Institutional Source Beutler Lab
Gene Symbol Nlrp9b
Ensembl Gene ENSMUSG00000060508
Gene Name NLR family, pyrin domain containing 9B
Synonyms Nalp9b, Nalp-delta
MMRRC Submission 044438-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6265 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 19725318-19796867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19796608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 986 (F986I)
Ref Sequence ENSEMBL: ENSMUSP00000072895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073151] [ENSMUST00000117909]
AlphaFold Q66X22
Predicted Effect probably benign
Transcript: ENSMUST00000073151
AA Change: F986I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: F986I

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik C T 4: 137,181,986 (GRCm39) P47L probably damaging Het
Acot1 T C 12: 84,063,687 (GRCm39) I265T probably benign Het
Amotl1 T C 9: 14,482,951 (GRCm39) D587G possibly damaging Het
Anks1b T G 10: 90,777,362 (GRCm39) D1117E probably damaging Het
Art4 T G 6: 136,831,886 (GRCm39) N85T probably damaging Het
Asb3 C A 11: 31,035,143 (GRCm39) Q462K probably benign Het
Atcay C T 10: 81,049,114 (GRCm39) E163K possibly damaging Het
Atp6v0e T C 17: 26,895,507 (GRCm39) V20A possibly damaging Het
Atp7b G A 8: 22,505,943 (GRCm39) Q520* probably null Het
Baat A T 4: 49,502,836 (GRCm39) D95E possibly damaging Het
Cars2 TCCCC TCCC 8: 11,579,599 (GRCm39) probably null Het
Ccdc24 G A 4: 117,728,374 (GRCm39) Q47* probably null Het
Cep170b C A 12: 112,710,993 (GRCm39) Q1488K probably damaging Het
Cldn24 A C 8: 48,275,374 (GRCm39) D66A probably benign Het
Cln5 C A 14: 103,310,663 (GRCm39) T110K probably damaging Het
Clvs2 C A 10: 33,404,511 (GRCm39) S235I possibly damaging Het
Col5a3 C T 9: 20,705,060 (GRCm39) G730R unknown Het
Crim1 C T 17: 78,677,514 (GRCm39) P905L probably benign Het
Cxxc4 T C 3: 133,963,824 (GRCm39) V356A probably benign Het
Dctn6 G T 8: 34,562,057 (GRCm39) N93K probably damaging Het
Dnah9 G A 11: 66,058,920 (GRCm39) A125V probably benign Het
Dnhd1 T C 7: 105,342,577 (GRCm39) I1307T probably benign Het
Dpy19l1 T A 9: 24,343,667 (GRCm39) I493F possibly damaging Het
Ebf2 A G 14: 67,661,509 (GRCm39) I546V probably benign Het
Fbll1 T C 11: 35,688,636 (GRCm39) E209G probably damaging Het
Foxj2 G A 6: 122,805,133 (GRCm39) A2T probably damaging Het
Foxs1 A T 2: 152,774,098 (GRCm39) C318* probably null Het
Gorab T C 1: 163,214,199 (GRCm39) T244A possibly damaging Het
Gtsf1l C A 2: 162,929,583 (GRCm39) probably benign Het
Herc1 T C 9: 66,279,298 (GRCm39) S69P probably benign Het
Hpca C T 4: 129,012,445 (GRCm39) W30* probably null Het
Ing3 C A 6: 21,953,813 (GRCm39) Q85K probably damaging Het
Klhdc8b T C 9: 108,325,624 (GRCm39) E264G probably damaging Het
Lair1 T A 7: 4,058,826 (GRCm39) probably benign Het
Lama1 T C 17: 68,057,650 (GRCm39) Y575H probably damaging Het
Lamtor2 C A 3: 88,458,020 (GRCm39) G29* probably null Het
Loxhd1 A T 18: 77,449,426 (GRCm39) D341V probably damaging Het
Lrp2 T A 2: 69,296,684 (GRCm39) D3290V probably damaging Het
Matn2 A T 15: 34,399,301 (GRCm39) D396V probably damaging Het
Me3 T A 7: 89,498,951 (GRCm39) D510E probably benign Het
Melk A G 4: 44,318,109 (GRCm39) Y170C probably damaging Het
Mgat2 T C 12: 69,231,567 (GRCm39) V47A probably benign Het
Mindy4 T C 6: 55,278,049 (GRCm39) I631T probably damaging Het
Myo5b T A 18: 74,710,511 (GRCm39) probably null Het
Myo7b A T 18: 32,131,203 (GRCm39) D521E probably damaging Het
Or8k39 A G 2: 86,563,299 (GRCm39) L219P probably damaging Het
Patj A G 4: 98,357,804 (GRCm39) D690G probably benign Het
Pias2 T C 18: 77,184,954 (GRCm39) S5P probably damaging Het
Reep4 A T 14: 70,785,143 (GRCm39) S150C probably damaging Het
Slc25a21 T C 12: 57,243,685 (GRCm39) R14G probably benign Het
Slc6a6 G C 6: 91,731,896 (GRCm39) R575T probably damaging Het
Speg T A 1: 75,383,323 (GRCm39) Y886* probably null Het
Tas2r103 A C 6: 133,013,494 (GRCm39) F191V probably damaging Het
Tbc1d19 A G 5: 53,995,266 (GRCm39) D145G probably benign Het
Tex47 T A 5: 7,355,461 (GRCm39) I214N probably damaging Het
Tnnt3 A T 7: 142,055,382 (GRCm39) D3V probably damaging Het
Trdv2-1 T G 14: 54,183,842 (GRCm39) S24A probably benign Het
Ubr4 A G 4: 139,179,951 (GRCm39) D3377G possibly damaging Het
Ugt3a1 A T 15: 9,361,665 (GRCm39) D147V probably damaging Het
Usp9y A T Y: 1,446,843 (GRCm39) D103E probably benign Homo
Vmn1r168 A G 7: 23,240,961 (GRCm39) I273V probably benign Het
Vmn2r61 T C 7: 41,915,915 (GRCm39) I176T probably benign Het
Vmn2r8 T A 5: 108,956,463 (GRCm39) D53V probably benign Het
Zbtb8os A T 4: 129,229,775 (GRCm39) probably benign Het
Zfp551 C T 7: 12,149,339 (GRCm39) R690Q probably 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
R5696:Nlrp9b UTSW 7 19,758,417 (GRCm39) missense probably benign 0.02
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'- TGGGGACTGATGACAGAGTC -3'
(R):5'- AGCTGCTGAGAAAGACACCTAG -3'

Sequencing Primer
(F):5'- CTTAACATGTGTGCAGCAGC -3'
(R):5'- AGACACCTAGTGAAGACATGTTAC -3'
Posted On 2018-03-15