Incidental Mutation 'IGL00235:Nlrp9b'
ID2359
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrp9b
Ensembl Gene ENSMUSG00000060508
Gene NameNLR family, pyrin domain containing 9B
SynonymsNalp-delta, Nalp9b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL00235
Quality Score
Status
Chromosome7
Chromosomal Location19991465-20073306 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 20023278 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 147 (V147I)
Ref Sequence ENSEMBL: ENSMUSP00000115158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073151] [ENSMUST00000117909] [ENSMUST00000137183] [ENSMUST00000207805]
Predicted Effect probably benign
Transcript: ENSMUST00000073151
AA Change: V147I

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: V147I

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
AA Change: V147I

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508
AA Change: V147I

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
AA Change: V147I

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115158
Gene: ENSMUSG00000060508
AA Change: V147I

DomainStartEndE-ValueType
PYRIN 5 87 2.08e-23 SMART
Pfam:NACHT 143 240 1.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207805
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 G A 16: 35,253,213 E454K possibly damaging Het
Agl T C 3: 116,771,483 H1039R probably benign Het
Akap3 T C 6: 126,865,731 F438L probably benign Het
Casp1 A T 9: 5,299,872 probably benign Het
Cnih2 G T 19: 5,098,273 probably benign Het
Dchs1 G A 7: 105,758,743 R1961C probably damaging Het
Defb21 G A 2: 152,574,792 V63I probably benign Het
Elovl6 T A 3: 129,628,376 N105K probably benign Het
Fam83e A T 7: 45,727,069 E402V probably benign Het
Fat4 T A 3: 38,982,249 I3350N probably damaging Het
Gmpr2 C A 14: 55,675,714 F149L probably damaging Het
Gucy1b2 C A 14: 62,406,245 V636F probably damaging Het
Hapln1 A C 13: 89,608,142 Y355S probably benign Het
Hoxb13 G T 11: 96,194,642 C67F possibly damaging Het
Hspa12b T A 2: 131,134,120 I14N probably damaging Het
Ighe C A 12: 113,271,515 V342L unknown Het
Ighv1-49 A T 12: 115,055,456 S21T possibly damaging Het
Klhl17 A G 4: 156,233,862 I101T possibly damaging Het
Lrrd1 T G 5: 3,850,573 L293V possibly damaging Het
Lyrm4 T A 13: 36,092,882 K44M probably damaging Het
Med15 G T 16: 17,680,726 P101T probably damaging Het
Mgat4c A T 10: 102,388,720 H265L probably damaging Het
Mme T A 3: 63,340,044 I250N possibly damaging Het
Mxra8 C A 4: 155,842,563 T318N probably benign Het
Npepl1 G T 2: 174,120,548 V336L probably damaging Het
Olfr382 G A 11: 73,516,410 S263L possibly damaging Het
Pank2 T C 2: 131,274,169 I169T possibly damaging Het
Pkhd1l1 A T 15: 44,556,019 H2960L probably damaging Het
Pnpla8 A G 12: 44,283,069 R135G probably benign Het
Prdm8 T G 5: 98,183,343 V18G probably damaging Het
Rhox7b G T X: 37,889,662 P231T probably damaging Het
Rnf121 A T 7: 102,065,115 probably benign Het
Skap1 T C 11: 96,489,910 F45S probably damaging Het
Slc4a5 T A 6: 83,285,899 L791Q probably damaging Het
Ssh1 T C 5: 113,942,576 D931G probably damaging Het
Tmem8 T C 17: 26,117,519 S204P probably damaging Het
Txndc16 T C 14: 45,162,350 Y382C probably damaging Het
Uhrf2 T C 19: 30,073,946 F307L probably benign Het
Zfhx2 C A 14: 55,063,257 A2346S probably benign Het
Other mutations in Nlrp9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0037:Nlrp9b UTSW 7 20023722 missense probably damaging 0.99
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
X0064:Nlrp9b UTSW 7 20048758 missense probably damaging 1.00
Z1088:Nlrp9b UTSW 7 20023743 missense probably benign 0.01
Posted On2011-12-09