Incidental Mutation 'R2871:Nlrp4b'
ID 253720
Institutional Source Beutler Lab
Gene Symbol Nlrp4b
Ensembl Gene ENSMUSG00000034087
Gene Name NLR family, pyrin domain containing 4B
Synonyms Nalp4b, Nalp-gamma
MMRRC Submission 040459-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R2871 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 10421720-10464095 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 10444170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 40 (Q40*)
Ref Sequence ENSEMBL: ENSMUSP00000113095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047809] [ENSMUST00000117413] [ENSMUST00000132990]
AlphaFold Q8C6J9
Predicted Effect probably null
Transcript: ENSMUST00000047809
AA Change: Q40*
SMART Domains Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: Q40*

DomainStartEndE-ValueType
PYRIN 6 89 1.4e-20 SMART
Pfam:NACHT 143 312 7.9e-40 PFAM
low complexity region 520 535 N/A INTRINSIC
LRR 683 710 4.9e0 SMART
LRR 712 739 1.97e0 SMART
LRR 740 767 1.13e-4 SMART
LRR 769 796 1.93e1 SMART
LRR 797 824 1.73e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117413
AA Change: Q40*
SMART Domains Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: Q40*

DomainStartEndE-ValueType
PYRIN 6 89 1.4e-20 SMART
Pfam:NACHT 143 312 3.3e-39 PFAM
low complexity region 520 535 N/A INTRINSIC
LRR 683 710 4.9e0 SMART
LRR 712 739 1.97e0 SMART
LRR 740 767 1.13e-4 SMART
LRR 769 796 1.93e1 SMART
LRR 797 824 1.73e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132990
SMART Domains Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087

DomainStartEndE-ValueType
low complexity region 153 168 N/A INTRINSIC
LRR 316 343 4.9e0 SMART
LRR 345 372 1.97e0 SMART
LRR 373 400 1.13e-4 SMART
LRR 402 429 1.93e1 SMART
LRR 430 457 1.73e0 SMART
Meta Mutation Damage Score 0.9638 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.2%
  • 10x: 92.4%
  • 20x: 72.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,846,002 (GRCm39) C811R possibly damaging Het
Akap8l G A 17: 32,557,416 (GRCm39) T65I possibly damaging Het
Arid4a T A 12: 71,069,034 (GRCm39) probably null Het
Armc2 C T 10: 41,842,696 (GRCm39) probably null Het
Atp6v1g1 A G 4: 63,468,258 (GRCm39) Y87C probably benign Het
Cfap54 A T 10: 92,757,281 (GRCm39) F273I possibly damaging Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Csmd2 T C 4: 128,451,511 (GRCm39) F113S unknown Het
Cyp4a14 C A 4: 115,344,498 (GRCm39) G456W probably damaging Het
Cyp4a30b A G 4: 115,315,559 (GRCm39) H260R possibly damaging Het
Ddrgk1 T A 2: 130,506,564 (GRCm39) probably benign Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Dhx57 A T 17: 80,558,805 (GRCm39) D1051E probably benign Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Eml5 C T 12: 98,831,660 (GRCm39) D433N probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Het
Ftdc1 A T 16: 58,434,342 (GRCm39) I125K probably benign Het
Gria2 G A 3: 80,609,799 (GRCm39) T670I probably damaging Het
Grid2ip C A 5: 143,343,684 (GRCm39) Q127K probably benign Het
Hdhd2 T C 18: 77,042,702 (GRCm39) F44L probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Ift172 C T 5: 31,415,205 (GRCm39) V1335I probably benign Het
Ighv2-2 G A 12: 113,552,118 (GRCm39) T40I possibly damaging Het
Kcnk10 T A 12: 98,401,072 (GRCm39) R520S probably benign Het
Kif1c A G 11: 70,614,907 (GRCm39) E567G probably damaging Het
Klf8 A T X: 152,165,678 (GRCm39) E82D probably damaging Het
Kpna7 T C 5: 144,930,745 (GRCm39) T367A probably benign Het
Lpo A G 11: 87,707,350 (GRCm39) I221T possibly damaging Het
Lrrn3 T C 12: 41,502,722 (GRCm39) I532V probably benign Het
Matr3 T A 18: 35,705,349 (GRCm39) S91R probably benign Het
Mki67 G A 7: 135,309,878 (GRCm39) P191L probably benign Het
Mlxip A G 5: 123,590,730 (GRCm39) M878V probably benign Het
Mpp7 G A 18: 7,461,678 (GRCm39) P65L possibly damaging Het
Mroh2a C A 1: 88,183,287 (GRCm39) L1292I probably damaging Het
Msh2 C A 17: 87,993,012 (GRCm39) Q314K possibly damaging Het
Mtor T A 4: 148,624,487 (GRCm39) M2089K probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Npas3 C T 12: 54,114,796 (GRCm39) R542* probably null Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or13a17 A G 7: 140,271,198 (GRCm39) I127V possibly damaging Het
Or13j1 C A 4: 43,706,458 (GRCm39) V37L probably benign Het
Or5t16 A T 2: 86,819,192 (GRCm39) C109* probably null Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pcdhga9 T A 18: 37,870,524 (GRCm39) Y118N possibly damaging Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Pkp4 C A 2: 59,138,500 (GRCm39) T250K probably benign Het
Plekhg5 T A 4: 152,191,960 (GRCm39) C433S probably benign Het
Plin2 A G 4: 86,586,915 (GRCm39) M1T probably null Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Het
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Psmd13 A T 7: 140,466,968 (GRCm39) T116S probably damaging Het
Rel T C 11: 23,711,129 (GRCm39) I13V probably benign Het
Reln C T 5: 22,254,789 (GRCm39) V527I possibly damaging Het
Rnf6 T C 5: 146,147,215 (GRCm39) Y601C probably benign Het
Rps6kc1 T C 1: 190,631,766 (GRCm39) I48M probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Shoc1 A C 4: 59,093,850 (GRCm39) L226R probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vmn2r70 T A 7: 85,208,227 (GRCm39) Y750F probably damaging Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D probably benign Het
Other mutations in Nlrp4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Nlrp4b APN 7 10,448,882 (GRCm39) missense possibly damaging 0.68
IGL01456:Nlrp4b APN 7 10,448,150 (GRCm39) missense probably benign 0.26
IGL01537:Nlrp4b APN 7 10,448,918 (GRCm39) missense probably damaging 1.00
IGL02539:Nlrp4b APN 7 10,448,355 (GRCm39) missense probably damaging 0.96
IGL02730:Nlrp4b APN 7 10,448,685 (GRCm39) missense probably damaging 1.00
IGL02871:Nlrp4b APN 7 10,449,192 (GRCm39) missense probably benign 0.26
IGL03008:Nlrp4b APN 7 10,448,516 (GRCm39) missense probably benign 0.00
IGL03109:Nlrp4b APN 7 10,448,873 (GRCm39) missense probably damaging 1.00
IGL03251:Nlrp4b APN 7 10,448,427 (GRCm39) missense probably benign 0.01
IGL03354:Nlrp4b APN 7 10,448,465 (GRCm39) missense probably damaging 0.99
R0052:Nlrp4b UTSW 7 10,459,889 (GRCm39) nonsense probably null
R0348:Nlrp4b UTSW 7 10,449,108 (GRCm39) missense possibly damaging 0.60
R0564:Nlrp4b UTSW 7 10,448,585 (GRCm39) missense probably benign 0.15
R0573:Nlrp4b UTSW 7 10,448,142 (GRCm39) missense probably benign 0.01
R0581:Nlrp4b UTSW 7 10,448,457 (GRCm39) missense probably damaging 1.00
R1201:Nlrp4b UTSW 7 10,449,363 (GRCm39) missense possibly damaging 0.64
R1541:Nlrp4b UTSW 7 10,458,979 (GRCm39) missense possibly damaging 0.91
R1771:Nlrp4b UTSW 7 10,452,520 (GRCm39) missense probably damaging 0.96
R1781:Nlrp4b UTSW 7 10,449,266 (GRCm39) missense probably benign 0.13
R1833:Nlrp4b UTSW 7 10,459,863 (GRCm39) missense probably benign 0.00
R2405:Nlrp4b UTSW 7 10,448,655 (GRCm39) missense probably benign 0.08
R2871:Nlrp4b UTSW 7 10,444,170 (GRCm39) nonsense probably null
R2873:Nlrp4b UTSW 7 10,444,170 (GRCm39) nonsense probably null
R2904:Nlrp4b UTSW 7 10,448,294 (GRCm39) missense probably damaging 1.00
R3410:Nlrp4b UTSW 7 10,449,456 (GRCm39) missense probably damaging 1.00
R3714:Nlrp4b UTSW 7 10,448,808 (GRCm39) missense probably benign 0.04
R3982:Nlrp4b UTSW 7 10,448,358 (GRCm39) missense possibly damaging 0.95
R4668:Nlrp4b UTSW 7 10,448,660 (GRCm39) missense possibly damaging 0.66
R4690:Nlrp4b UTSW 7 10,453,130 (GRCm39) missense probably benign 0.00
R4857:Nlrp4b UTSW 7 10,449,225 (GRCm39) missense probably benign 0.05
R5247:Nlrp4b UTSW 7 10,448,145 (GRCm39) missense probably benign 0.21
R5381:Nlrp4b UTSW 7 10,449,172 (GRCm39) nonsense probably null
R5529:Nlrp4b UTSW 7 10,448,873 (GRCm39) missense possibly damaging 0.91
R5589:Nlrp4b UTSW 7 10,449,512 (GRCm39) missense probably benign 0.34
R5770:Nlrp4b UTSW 7 10,449,414 (GRCm39) missense probably benign 0.00
R5990:Nlrp4b UTSW 7 10,448,418 (GRCm39) missense possibly damaging 0.61
R6049:Nlrp4b UTSW 7 10,448,640 (GRCm39) nonsense probably null
R6329:Nlrp4b UTSW 7 10,458,847 (GRCm39) missense probably benign 0.16
R6377:Nlrp4b UTSW 7 10,449,339 (GRCm39) missense probably benign 0.00
R7107:Nlrp4b UTSW 7 10,449,144 (GRCm39) missense probably damaging 0.96
R7209:Nlrp4b UTSW 7 10,444,297 (GRCm39) missense probably benign 0.01
R7237:Nlrp4b UTSW 7 10,449,143 (GRCm39) missense probably benign 0.12
R7537:Nlrp4b UTSW 7 10,448,816 (GRCm39) missense probably benign 0.05
R7793:Nlrp4b UTSW 7 10,459,001 (GRCm39) missense probably benign 0.00
R8138:Nlrp4b UTSW 7 10,449,458 (GRCm39) missense probably benign 0.01
R8190:Nlrp4b UTSW 7 10,448,319 (GRCm39) missense probably damaging 0.96
R8326:Nlrp4b UTSW 7 10,452,471 (GRCm39) missense probably benign 0.05
R8353:Nlrp4b UTSW 7 10,449,528 (GRCm39) missense probably damaging 0.99
R8417:Nlrp4b UTSW 7 10,459,880 (GRCm39) nonsense probably null
R8453:Nlrp4b UTSW 7 10,449,528 (GRCm39) missense probably damaging 0.99
R8998:Nlrp4b UTSW 7 10,449,629 (GRCm39) missense probably null 0.00
R9002:Nlrp4b UTSW 7 10,448,886 (GRCm39) missense probably damaging 1.00
R9072:Nlrp4b UTSW 7 10,459,870 (GRCm39) missense probably benign 0.02
R9073:Nlrp4b UTSW 7 10,459,870 (GRCm39) missense probably benign 0.02
R9258:Nlrp4b UTSW 7 10,444,087 (GRCm39) missense probably damaging 1.00
R9373:Nlrp4b UTSW 7 10,449,126 (GRCm39) missense probably benign 0.01
R9525:Nlrp4b UTSW 7 10,448,748 (GRCm39) missense probably damaging 0.99
R9604:Nlrp4b UTSW 7 10,444,295 (GRCm39) missense probably benign 0.00
R9670:Nlrp4b UTSW 7 10,448,651 (GRCm39) missense probably benign 0.11
R9679:Nlrp4b UTSW 7 10,449,184 (GRCm39) missense probably benign 0.00
X0063:Nlrp4b UTSW 7 10,463,514 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTTACTAAGCTGCTTGCCTAA -3'
(R):5'- TGCTGTCCCCATGGTAGATAAAC -3'

Sequencing Primer
(F):5'- AAGCTGCTTGCCTAATTTTTCCACAG -3'
(R):5'- TGTCCCCATGGTAGATAAACATGAAG -3'
Posted On 2014-12-04