Incidental Mutation 'R7384:Nlrp4a'
ID 572941
Institutional Source Beutler Lab
Gene Symbol Nlrp4a
Ensembl Gene ENSMUSG00000040601
Gene Name NLR family, pyrin domain containing 4A
Synonyms Nalp-eta, E330028A19Rik, Nalp4a
MMRRC Submission 045466-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R7384 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 26134538-26175100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26148963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 190 (R190Q)
Ref Sequence ENSEMBL: ENSMUSP00000066841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068767]
AlphaFold Q8BU40
Predicted Effect not run
Transcript: ENSMUST00000068767
AA Change: R190Q
SMART Domains Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: R190Q

DomainStartEndE-ValueType
PYRIN 6 89 6.48e-34 SMART
Pfam:NACHT 148 317 4.9e-37 PFAM
Blast:LRR 634 661 4e-6 BLAST
low complexity region 666 677 N/A INTRINSIC
LRR 689 716 5.96e0 SMART
LRR 718 745 1.99e1 SMART
LRR 746 772 1.02e0 SMART
LRR 774 801 4.66e1 SMART
LRR 802 829 1.18e-2 SMART
LRR 831 858 2.2e-2 SMART
LRR 859 886 5.59e-4 SMART
LRR 888 915 9.41e0 SMART
LRR 916 943 8.94e1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T A 4: 144,507,191 (GRCm39) I65F possibly damaging Het
Abca13 C A 11: 9,283,257 (GRCm39) S3226R probably damaging Het
Abhd14b A G 9: 106,327,340 (GRCm39) I41V probably benign Het
Acot2 T C 12: 84,039,441 (GRCm39) S317P probably benign Het
Acp7 T C 7: 28,314,513 (GRCm39) E284G possibly damaging Het
Adamts5 A G 16: 85,696,714 (GRCm39) F148L probably benign Het
Adcy10 C T 1: 165,404,177 (GRCm39) P1611S unknown Het
Agr2 A G 12: 36,045,923 (GRCm39) T57A probably damaging Het
Ankar T G 1: 72,697,624 (GRCm39) I1060L probably benign Het
Ano10 T A 9: 122,005,409 (GRCm39) D77V unknown Het
Anxa2r1 T A 13: 120,496,797 (GRCm39) Q24L possibly damaging Het
Apc2 G A 10: 80,148,458 (GRCm39) V1171I probably damaging Het
Apoa4 G A 9: 46,152,772 (GRCm39) R19Q not run Het
Arhgap33 A G 7: 30,226,696 (GRCm39) S504P probably damaging Het
Atg2a T C 19: 6,311,707 (GRCm39) V1862A probably damaging Het
Atp7b T C 8: 22,512,331 (GRCm39) S511G probably benign Het
Bcl10 A G 3: 145,638,795 (GRCm39) K146E possibly damaging Het
Bsg A T 10: 79,545,631 (GRCm39) D181V probably damaging Het
Btg4 T C 9: 51,030,413 (GRCm39) V171A probably benign Het
Cdh8 A C 8: 99,957,138 (GRCm39) N188K probably benign Het
Cflar C A 1: 58,791,735 (GRCm39) T346K Het
Chrna5 T C 9: 54,912,117 (GRCm39) S306P probably damaging Het
Cldn20 G A 17: 3,582,886 (GRCm39) G20R probably damaging Het
Clns1a G A 7: 97,345,988 (GRCm39) A18T probably benign Het
D130043K22Rik A G 13: 25,066,588 (GRCm39) Y795C probably damaging Het
Dync1li2 A C 8: 105,169,175 (GRCm39) S38A probably benign Het
Dysf A G 6: 84,091,087 (GRCm39) E1043G probably benign Het
Elapor1 A T 3: 108,370,784 (GRCm39) probably null Het
Eral1 A G 11: 77,964,927 (GRCm39) I422T possibly damaging Het
Exoc3 G A 13: 74,320,275 (GRCm39) P729S probably benign Het
Eya1 T A 1: 14,299,736 (GRCm39) Y339F probably damaging Het
Faah G T 4: 115,862,364 (GRCm39) N206K probably damaging Het
Fem1a A G 17: 56,564,537 (GRCm39) E210G probably benign Het
Gcc2 T A 10: 58,105,786 (GRCm39) S341T probably damaging Het
Gfpt2 A T 11: 49,701,817 (GRCm39) I123F possibly damaging Het
Gm3047 T A 14: 4,558,271 (GRCm38) N164K probably damaging Het
Gm3327 A G 14: 44,362,334 (GRCm39) K78E Het
Herpud1 A G 8: 95,116,005 (GRCm39) I57V probably damaging Het
Homer1 A T 13: 93,529,547 (GRCm39) R285S possibly damaging Het
Hps6 T A 19: 45,992,456 (GRCm39) V131E possibly damaging Het
Il1r1 T A 1: 40,321,421 (GRCm39) I11N possibly damaging Het
Jakmip1 T A 5: 37,330,551 (GRCm39) D410E possibly damaging Het
Kif3a T A 11: 53,469,681 (GRCm39) F97L probably damaging Het
Klf11 C T 12: 24,703,742 (GRCm39) T76I probably damaging Het
Ldlr A C 9: 21,651,090 (GRCm39) T503P probably benign Het
Mapk3 G C 7: 126,363,463 (GRCm39) R279P Het
Mb21d2 A T 16: 28,647,664 (GRCm39) D103E probably benign Het
Msh4 T A 3: 153,594,385 (GRCm39) M333L probably benign Het
Mycbp2 A G 14: 103,513,829 (GRCm39) I836T probably damaging Het
Myh1 A T 11: 67,115,201 (GRCm39) E1912V possibly damaging Het
Ncapd2 A G 6: 125,150,364 (GRCm39) V887A probably benign Het
Nop53 T C 7: 15,673,420 (GRCm39) T344A probably damaging Het
Or2r3 A T 6: 42,448,257 (GRCm39) L285Q possibly damaging Het
Or5an11 T C 19: 12,246,440 (GRCm39) V282A possibly damaging Het
Or7h8 A G 9: 20,124,041 (GRCm39) Y132C probably damaging Het
Pcyox1l A C 18: 61,831,461 (GRCm39) V266G probably damaging Het
Pde5a A G 3: 122,618,649 (GRCm39) Y654C probably damaging Het
Polq T C 16: 36,849,780 (GRCm39) S345P probably damaging Het
Polr1f G T 12: 33,483,631 (GRCm39) G128W probably damaging Het
Prdm1 A T 10: 44,334,503 (GRCm39) C8S probably benign Het
Psg17 T A 7: 18,552,585 (GRCm39) Q230L possibly damaging Het
Rab11fip5 A T 6: 85,325,312 (GRCm39) S332T possibly damaging Het
Rac2 T A 15: 78,446,131 (GRCm39) K186* probably null Het
S100pbp T C 4: 129,075,702 (GRCm39) N208D probably benign Het
Scaf11 A T 15: 96,318,268 (GRCm39) V432D possibly damaging Het
Skic3 A C 13: 76,298,854 (GRCm39) S1187R possibly damaging Het
Slc34a1 G T 13: 55,550,747 (GRCm39) C225F probably benign Het
Slc35e2 A T 4: 155,695,089 (GRCm39) M152L probably benign Het
Slc49a3 A T 5: 108,593,926 (GRCm39) I61K probably damaging Het
Slc9a4 T A 1: 40,651,411 (GRCm39) I563K probably benign Het
Sppl3 T G 5: 115,199,700 (GRCm39) probably null Het
Stam T C 2: 14,139,241 (GRCm39) F301L probably benign Het
Supt16 G A 14: 52,418,619 (GRCm39) R213W probably damaging Het
Tbc1d8 A T 1: 39,433,179 (GRCm39) D334E probably benign Het
Tmem87a C T 2: 120,202,004 (GRCm39) probably null Het
Tnk1 T C 11: 69,742,447 (GRCm39) Y661C probably damaging Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Tnxb A G 17: 34,937,492 (GRCm39) D2947G probably damaging Het
Traf4 A G 11: 78,051,617 (GRCm39) probably null Het
Trappc10 A T 10: 78,045,218 (GRCm39) M490K possibly damaging Het
Trav12-1 A G 14: 53,775,993 (GRCm39) T49A probably benign Het
Ubap1l AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 9: 65,279,032 (GRCm39) probably benign Het
Unc79 G T 12: 103,137,837 (GRCm39) V2485L probably benign Het
Ush2a T C 1: 188,132,360 (GRCm39) S861P probably damaging Het
Vcam1 A G 3: 115,910,877 (GRCm39) V507A possibly damaging Het
Vmn1r218 A G 13: 23,320,895 (GRCm39) M81V probably benign Het
Zfp652 G T 11: 95,643,830 (GRCm39) V343L probably damaging Het
Other mutations in Nlrp4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Nlrp4a APN 7 26,149,410 (GRCm39) missense possibly damaging 0.51
IGL00972:Nlrp4a APN 7 26,156,473 (GRCm39) missense probably benign
IGL01081:Nlrp4a APN 7 26,149,254 (GRCm39) missense probably benign 0.06
IGL01788:Nlrp4a APN 7 26,153,492 (GRCm39) missense probably benign 0.17
IGL02001:Nlrp4a APN 7 26,149,394 (GRCm39) missense probably benign 0.01
IGL02070:Nlrp4a APN 7 26,148,703 (GRCm39) missense possibly damaging 0.77
IGL02175:Nlrp4a APN 7 26,174,522 (GRCm39) missense probably damaging 1.00
IGL02193:Nlrp4a APN 7 26,148,703 (GRCm39) missense possibly damaging 0.77
IGL02193:Nlrp4a APN 7 26,159,117 (GRCm39) missense probably damaging 1.00
IGL02197:Nlrp4a APN 7 26,148,703 (GRCm39) missense possibly damaging 0.77
IGL02200:Nlrp4a APN 7 26,148,703 (GRCm39) missense possibly damaging 0.77
IGL02202:Nlrp4a APN 7 26,148,703 (GRCm39) missense possibly damaging 0.77
IGL02207:Nlrp4a APN 7 26,148,703 (GRCm39) missense possibly damaging 0.77
IGL02237:Nlrp4a APN 7 26,148,703 (GRCm39) missense possibly damaging 0.77
IGL02240:Nlrp4a APN 7 26,148,703 (GRCm39) missense possibly damaging 0.77
IGL02658:Nlrp4a APN 7 26,149,138 (GRCm39) missense probably benign 0.43
IGL02743:Nlrp4a APN 7 26,159,240 (GRCm39) splice site probably benign
IGL02960:Nlrp4a APN 7 26,149,155 (GRCm39) missense probably benign 0.05
IGL03064:Nlrp4a APN 7 26,148,934 (GRCm39) missense probably benign 0.23
IGL03276:Nlrp4a APN 7 26,163,615 (GRCm39) missense probably damaging 1.00
BB002:Nlrp4a UTSW 7 26,150,011 (GRCm39) missense probably benign 0.10
BB012:Nlrp4a UTSW 7 26,150,011 (GRCm39) missense probably benign 0.10
D3080:Nlrp4a UTSW 7 26,143,766 (GRCm39) missense probably benign 0.22
P0019:Nlrp4a UTSW 7 26,149,062 (GRCm39) missense probably damaging 1.00
R0020:Nlrp4a UTSW 7 26,149,797 (GRCm39) missense probably damaging 1.00
R0240:Nlrp4a UTSW 7 26,161,941 (GRCm39) missense probably benign 0.00
R0240:Nlrp4a UTSW 7 26,161,941 (GRCm39) missense probably benign 0.00
R0372:Nlrp4a UTSW 7 26,148,657 (GRCm39) splice site probably benign
R0466:Nlrp4a UTSW 7 26,162,045 (GRCm39) splice site probably benign
R0544:Nlrp4a UTSW 7 26,156,555 (GRCm39) missense probably benign 0.00
R1006:Nlrp4a UTSW 7 26,152,892 (GRCm39) missense probably benign 0.30
R1072:Nlrp4a UTSW 7 26,143,860 (GRCm39) missense probably damaging 1.00
R1432:Nlrp4a UTSW 7 26,163,622 (GRCm39) frame shift probably null
R1655:Nlrp4a UTSW 7 26,149,076 (GRCm39) missense possibly damaging 0.56
R1696:Nlrp4a UTSW 7 26,149,959 (GRCm39) missense probably damaging 1.00
R2041:Nlrp4a UTSW 7 26,149,611 (GRCm39) missense probably damaging 0.97
R2091:Nlrp4a UTSW 7 26,149,578 (GRCm39) missense probably damaging 1.00
R2163:Nlrp4a UTSW 7 26,152,822 (GRCm39) missense probably benign 0.00
R2174:Nlrp4a UTSW 7 26,148,849 (GRCm39) missense probably damaging 1.00
R2319:Nlrp4a UTSW 7 26,149,319 (GRCm39) missense probably benign 0.10
R2358:Nlrp4a UTSW 7 26,163,623 (GRCm39) missense probably benign 0.03
R2680:Nlrp4a UTSW 7 26,148,655 (GRCm39) splice site probably null
R3812:Nlrp4a UTSW 7 26,149,118 (GRCm39) missense probably benign
R4114:Nlrp4a UTSW 7 26,149,365 (GRCm39) missense probably damaging 1.00
R4664:Nlrp4a UTSW 7 26,148,943 (GRCm39) nonsense probably null
R4676:Nlrp4a UTSW 7 26,149,654 (GRCm39) missense probably damaging 1.00
R4708:Nlrp4a UTSW 7 26,163,533 (GRCm39) missense probably benign 0.00
R4728:Nlrp4a UTSW 7 26,174,515 (GRCm39) missense probably benign 0.24
R4815:Nlrp4a UTSW 7 26,150,233 (GRCm39) missense probably benign 0.00
R4831:Nlrp4a UTSW 7 26,149,844 (GRCm39) missense possibly damaging 0.92
R5007:Nlrp4a UTSW 7 26,161,905 (GRCm39) missense probably damaging 0.99
R5253:Nlrp4a UTSW 7 26,149,917 (GRCm39) missense probably benign 0.00
R5262:Nlrp4a UTSW 7 26,159,236 (GRCm39) critical splice donor site probably null
R5441:Nlrp4a UTSW 7 26,153,578 (GRCm39) missense probably damaging 1.00
R5639:Nlrp4a UTSW 7 26,156,455 (GRCm39) missense probably benign 0.02
R5641:Nlrp4a UTSW 7 26,149,589 (GRCm39) missense probably damaging 1.00
R5771:Nlrp4a UTSW 7 26,152,814 (GRCm39) missense probably damaging 1.00
R6312:Nlrp4a UTSW 7 26,148,821 (GRCm39) missense probably benign 0.11
R7131:Nlrp4a UTSW 7 26,149,258 (GRCm39) missense probably benign 0.21
R7149:Nlrp4a UTSW 7 26,149,863 (GRCm39) missense probably benign 0.00
R7348:Nlrp4a UTSW 7 26,143,698 (GRCm39) missense probably damaging 1.00
R7548:Nlrp4a UTSW 7 26,149,604 (GRCm39) missense probably damaging 1.00
R7566:Nlrp4a UTSW 7 26,148,670 (GRCm39) critical splice acceptor site probably null
R7646:Nlrp4a UTSW 7 26,148,987 (GRCm39) missense probably damaging 0.96
R7692:Nlrp4a UTSW 7 26,148,690 (GRCm39) missense probably benign 0.01
R7902:Nlrp4a UTSW 7 26,149,482 (GRCm39) missense possibly damaging 0.65
R7925:Nlrp4a UTSW 7 26,150,011 (GRCm39) missense probably benign 0.10
R7937:Nlrp4a UTSW 7 26,163,571 (GRCm39) missense probably benign 0.00
R7992:Nlrp4a UTSW 7 26,150,070 (GRCm39) missense possibly damaging 0.51
R8205:Nlrp4a UTSW 7 26,150,219 (GRCm39) missense probably benign
R8477:Nlrp4a UTSW 7 26,159,219 (GRCm39) missense probably benign
R8704:Nlrp4a UTSW 7 26,156,563 (GRCm39) missense probably benign 0.02
R8791:Nlrp4a UTSW 7 26,143,561 (GRCm39) splice site probably benign
R9220:Nlrp4a UTSW 7 26,149,523 (GRCm39) missense probably damaging 0.97
R9332:Nlrp4a UTSW 7 26,159,077 (GRCm39) missense probably damaging 0.99
T0975:Nlrp4a UTSW 7 26,149,062 (GRCm39) missense probably damaging 1.00
X0022:Nlrp4a UTSW 7 26,143,767 (GRCm39) missense probably damaging 0.99
Z1088:Nlrp4a UTSW 7 26,153,588 (GRCm39) missense probably benign 0.01
Predicted Primers
Posted On 2019-09-13