Incidental Mutation 'R1771:Nlrp4b'
ID 196584
Institutional Source Beutler Lab
Gene Symbol Nlrp4b
Ensembl Gene ENSMUSG00000034087
Gene Name NLR family, pyrin domain containing 4B
Synonyms Nalp4b, Nalp-gamma
MMRRC Submission 039802-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1771 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 10421720-10464095 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10452520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 15 (K15R)
Ref Sequence ENSEMBL: ENSMUSP00000148004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047809] [ENSMUST00000117413] [ENSMUST00000132990] [ENSMUST00000211069]
AlphaFold Q8C6J9
Predicted Effect possibly damaging
Transcript: ENSMUST00000047809
AA Change: K629R

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: K629R

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 possibly damaging
Transcript: ENSMUST00000117413
AA Change: K629R

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: K629R

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
AA Change: K262R

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087
AA Change: K262R

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
Predicted Effect probably damaging
Transcript: ENSMUST00000211069
AA Change: K15R

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000211258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211772
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,773,061 (GRCm39) S642P probably damaging Het
Adam30 T C 3: 98,068,835 (GRCm39) S95P possibly damaging Het
Ahnak G A 19: 8,991,117 (GRCm39) V4134I probably benign Het
Ankrd13a T C 5: 114,941,649 (GRCm39) V512A probably benign Het
Asph A T 4: 9,598,773 (GRCm39) S149R probably damaging Het
Atp2b4 C A 1: 133,660,131 (GRCm39) V384L probably damaging Het
Atp8a1 A G 5: 67,805,074 (GRCm39) W1014R probably damaging Het
Cand1 A C 10: 119,044,211 (GRCm39) N1054K probably benign Het
Car15 A T 16: 17,654,730 (GRCm39) V96E probably damaging Het
Cd1d1 T C 3: 86,905,972 (GRCm39) E101G possibly damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Ceacam1 T A 7: 25,171,469 (GRCm39) T332S probably benign Het
Clca3a2 A T 3: 144,787,171 (GRCm39) V500E probably benign Het
Cul9 A T 17: 46,848,738 (GRCm39) M666K probably benign Het
Dennd3 A G 15: 73,426,950 (GRCm39) T776A possibly damaging Het
Dennd5a T C 7: 109,517,893 (GRCm39) D581G probably damaging Het
Dgkh A G 14: 78,846,967 (GRCm39) V371A probably damaging Het
Dhcr24 A G 4: 106,435,450 (GRCm39) T314A probably benign Het
Diaph1 G T 18: 38,024,071 (GRCm39) P589Q unknown Het
Disp2 C T 2: 118,621,778 (GRCm39) Q837* probably null Het
Dusp3 A T 11: 101,875,561 (GRCm39) M1K probably null Het
Ecpas A G 4: 58,879,100 (GRCm39) I63T probably damaging Het
Eddm13 G T 7: 6,280,541 (GRCm39) probably null Het
Erich3 A C 3: 154,454,109 (GRCm39) D625A possibly damaging Het
Fat2 G A 11: 55,201,691 (GRCm39) S461L probably benign Het
Fmn2 A G 1: 174,436,342 (GRCm39) probably benign Het
Foxi1 A G 11: 34,157,594 (GRCm39) Y144H probably damaging Het
Ftcd G A 10: 76,423,202 (GRCm39) V458M probably damaging Het
Gm3604 C A 13: 62,517,888 (GRCm39) G157* probably null Het
Gnpda1 C T 18: 38,466,380 (GRCm39) R79Q probably benign Het
Gpr65 T A 12: 98,242,259 (GRCm39) I304K probably damaging Het
Grem1 T C 2: 113,580,021 (GRCm39) E160G probably benign Het
Gria2 T A 3: 80,599,608 (GRCm39) K759* probably null Het
Gsg1l A G 7: 125,557,745 (GRCm39) S128P probably damaging Het
Hdac1 A T 4: 129,415,221 (GRCm39) I240N probably damaging Het
Hic2 C T 16: 17,076,578 (GRCm39) T469M probably benign Het
Hoxc10 A C 15: 102,875,522 (GRCm39) D77A probably damaging Het
Itprid1 T C 6: 55,875,132 (GRCm39) S361P probably benign Het
Klhl14 T A 18: 21,784,677 (GRCm39) H250L probably damaging Het
Klk1b24 A G 7: 43,837,653 (GRCm39) probably null Het
Letm1 T A 5: 33,926,811 (GRCm39) H162L probably damaging Het
Loxl3 A T 6: 83,026,890 (GRCm39) Y573F probably damaging Het
Macf1 A T 4: 123,405,901 (GRCm39) I330N probably damaging Het
Mchr1 T A 15: 81,121,436 (GRCm39) I62N probably damaging Het
Mcm8 C T 2: 132,685,476 (GRCm39) Q803* probably null Het
Msh3 T G 13: 92,349,004 (GRCm39) D1075A probably benign Het
Msh6 T A 17: 88,291,950 (GRCm39) V235D probably benign Het
Mthfd2l A T 5: 91,122,254 (GRCm39) D253V probably damaging Het
Mtor T C 4: 148,555,081 (GRCm39) V901A possibly damaging Het
Muc20 A T 16: 32,614,222 (GRCm39) I385N probably damaging Het
Myo6 G T 9: 80,193,082 (GRCm39) C829F probably damaging Het
Nbea T C 3: 55,841,940 (GRCm39) I1914V probably benign Het
Ncor1 T C 11: 62,217,938 (GRCm39) E1462G probably damaging Het
Necab1 A G 4: 15,111,267 (GRCm39) Y54H probably damaging Het
Ntrk1 A G 3: 87,696,937 (GRCm39) S139P probably benign Het
Oas1d T C 5: 121,053,900 (GRCm39) F120S probably damaging Het
Ofd1 A G X: 165,189,002 (GRCm39) Y755H probably benign Het
Or10al2 A G 17: 37,983,554 (GRCm39) I213M probably damaging Het
Or13a25 A G 7: 140,248,048 (GRCm39) T276A probably benign Het
Or4f47 T G 2: 111,973,065 (GRCm39) Y258* probably null Het
Or5c1 T A 2: 37,222,430 (GRCm39) F224I probably benign Het
Or5p58 A C 7: 107,694,816 (GRCm39) probably null Het
Or9s27 A G 1: 92,516,837 (GRCm39) I262V probably benign Het
Plekha6 T C 1: 133,201,651 (GRCm39) S355P probably benign Het
Prdm14 T C 1: 13,189,082 (GRCm39) K421E probably damaging Het
Prss36 A G 7: 127,532,625 (GRCm39) L731P probably damaging Het
Rad51d A G 11: 82,774,764 (GRCm39) L97P probably damaging Het
Rbl1 C A 2: 157,005,454 (GRCm39) probably null Het
Rnh1 G T 7: 140,744,519 (GRCm39) A52D possibly damaging Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Ryr2 A C 13: 11,760,062 (GRCm39) probably null Het
Samd4 A T 14: 47,326,532 (GRCm39) N454I probably damaging Het
Sap130 T C 18: 31,769,135 (GRCm39) I32T probably benign Het
Sap30l A T 11: 57,696,925 (GRCm39) N85I probably damaging Het
Sbf2 G A 7: 110,060,353 (GRCm39) Q204* probably null Het
Slc45a3 T C 1: 131,904,694 (GRCm39) W6R possibly damaging Het
Snx16 A G 3: 10,484,221 (GRCm39) V334A probably damaging Het
Soat1 C T 1: 156,269,991 (GRCm39) V143I probably benign Het
Sp8 T A 12: 118,813,302 (GRCm39) F386I probably damaging Het
Spag6 C T 2: 18,738,928 (GRCm39) S286L probably benign Het
Srpra A T 9: 35,124,147 (GRCm39) N31I possibly damaging Het
Ssbp4 A G 8: 71,051,502 (GRCm39) probably null Het
Stxbp2 G T 8: 3,684,064 (GRCm39) A124S probably benign Het
Tacc2 A G 7: 130,343,970 (GRCm39) K700R probably damaging Het
Tatdn2 A T 6: 113,679,060 (GRCm39) probably null Het
Tecrl G A 5: 83,439,134 (GRCm39) T226I probably damaging Het
Timeless T G 10: 128,083,477 (GRCm39) V702G probably benign Het
Tjp1 A T 7: 64,962,753 (GRCm39) S1061R probably benign Het
Tmem39b A T 4: 129,587,011 (GRCm39) C67S probably damaging Het
Tstd3 T C 4: 21,759,475 (GRCm39) Y99C probably damaging Het
Ttc39c T A 18: 12,817,881 (GRCm39) probably null Het
Ttll7 C T 3: 146,600,160 (GRCm39) P23S probably benign Het
Uba5 A G 9: 103,927,107 (GRCm39) F290S probably damaging Het
Ubap2l T C 3: 89,926,538 (GRCm39) Y623C probably damaging Het
Ube3a A G 7: 58,925,714 (GRCm39) E164G probably damaging Het
Ugcg A G 4: 59,207,775 (GRCm39) N38S probably benign Het
Ugp2 G A 11: 21,279,915 (GRCm39) T283I probably damaging Het
Vmn1r55 A T 7: 5,149,919 (GRCm39) I168N probably benign Het
Wdr27 A C 17: 15,112,703 (GRCm39) S668A probably damaging Het
Wnt2 T A 6: 18,008,696 (GRCm39) N247I probably damaging Het
Zfp850 A T 7: 27,684,700 (GRCm39) C15* probably null Het
Zfp959 A G 17: 56,204,677 (GRCm39) probably null 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
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
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'- GCCATGTGTCTGACTAAGAACTGCAAA -3'
(R):5'- CTATGAGCACCTAGAAAGCAGAGCC -3'

Sequencing Primer
(F):5'- tggtggacagaaggggg -3'
(R):5'- ctaaatgaaaaacagtcagcaatagg -3'
Posted On 2014-05-23