Incidental Mutation 'R9325:Nlrp4e'
ID 706460
Institutional Source Beutler Lab
Gene Symbol Nlrp4e
Ensembl Gene ENSMUSG00000045693
Gene Name NLR family, pyrin domain containing 4E
Synonyms 4930406H16Rik, Nalp4e, Nalp-epsilon
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R9325 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 23301192-23362277 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to G at 23321330 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 414 (A414G)
Ref Sequence ENSEMBL: ENSMUSP00000075794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076470]
AlphaFold Q66X19
Predicted Effect probably benign
Transcript: ENSMUST00000076470
AA Change: A414G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: A414G

DomainStartEndE-ValueType
PYRIN 6 89 1.43e-35 SMART
Pfam:NACHT 148 317 1.3e-39 PFAM
LRR 689 716 1.87e1 SMART
LRR 718 745 7.74e0 SMART
LRR 746 772 2.5e1 SMART
LRR 774 801 2.67e1 SMART
LRR 802 829 6.48e-1 SMART
LRR 831 858 2.03e0 SMART
LRR 859 886 2.88e-6 SMART
LRR 888 915 9.41e0 SMART
LRR 916 943 1.02e2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,669,619 D1076G possibly damaging Het
Adamts9 T C 6: 92,872,298 D1060G probably benign Het
Ahnak T A 19: 9,013,893 D4180E probably benign Het
Ank2 A C 3: 126,981,855 F42V probably damaging Het
Ankib1 A G 5: 3,772,523 I61T possibly damaging Het
Arhgap9 T C 10: 127,325,853 S238P probably damaging Het
Bpifa3 A T 2: 154,133,680 I57F probably damaging Het
C130079G13Rik T A 3: 59,936,441 N185K probably benign Het
Cdh17 A G 4: 11,810,319 Y670C probably damaging Het
Ceacam20 C A 7: 19,986,682 R515S probably benign Het
Cers5 A T 15: 99,739,457 V274E probably damaging Het
Clip1 T C 5: 123,613,123 D865G Het
Cnih3 G A 1: 181,353,507 probably null Het
Coro2b G T 9: 62,489,327 H44N probably benign Het
Cuta A G 17: 26,939,315 probably null Het
Dchs1 T C 7: 105,766,195 I625V possibly damaging Het
Ddx4 A T 13: 112,599,907 F643Y probably damaging Het
Dlc1 A T 8: 36,571,364 V1020E possibly damaging Het
Dnah1 G T 14: 31,276,203 T2559K possibly damaging Het
Eng C T 2: 32,671,433 A152V probably damaging Het
F7 G T 8: 13,033,430 R190L probably benign Het
Fcgr4 T C 1: 171,020,142 V103A probably damaging Het
Fer1l4 C T 2: 156,036,014 V1005I probably damaging Het
Fmod A T 1: 134,040,633 H137L probably damaging Het
Fndc7 T C 3: 108,883,518 D64G possibly damaging Het
Gm13119 A G 4: 144,362,523 H137R probably benign Het
Gucy2c A T 6: 136,766,994 C202* probably null Het
Hspg2 C T 4: 137,538,241 R1783W probably damaging Het
Hyal6 T A 6: 24,743,456 S384T probably damaging Het
Igsf21 T A 4: 140,067,155 I136F probably damaging Het
Isl1 A G 13: 116,299,569 S321P probably damaging Het
Kif5c A G 2: 49,749,366 K813R probably benign Het
Klk7 A G 7: 43,812,013 E18G possibly damaging Het
Lox T C 18: 52,528,328 M225V probably benign Het
Lrrfip2 T A 9: 111,161,361 M50K possibly damaging Het
Lrrn2 A T 1: 132,937,503 Q102L probably damaging Het
Mcm3 T C 1: 20,805,338 R692G probably benign Het
Mmp14 T C 14: 54,438,791 V326A probably damaging Het
Muc2 G A 7: 141,744,822 M70I Het
Nefl T C 14: 68,085,011 probably null Het
Nup188 T A 2: 30,322,259 L586Q probably damaging Het
Olfr1124 G A 2: 87,434,946 G153D possibly damaging Het
Olfr891 T C 9: 38,180,031 D264G probably benign Het
Pik3c2a A T 7: 116,391,323 D467E probably damaging Het
Polr2g T A 19: 8,797,305 K71N probably benign Het
Prkci A G 3: 31,031,184 K184R probably damaging Het
Prr15 G A 6: 54,329,152 probably benign Het
Rin2 T A 2: 145,885,899 N896K probably benign Het
Ryr3 T C 2: 112,649,295 E4414G probably damaging Het
Slc4a4 T A 5: 89,228,897 D994E probably damaging Het
Slc6a4 C A 11: 77,019,173 P418Q probably benign Het
Smarcc2 T A 10: 128,488,207 M1138K unknown Het
Snph C T 2: 151,594,288 R240Q probably damaging Het
Stox2 T A 8: 47,194,060 T122S probably benign Het
Tmem131l T C 3: 83,910,461 D1244G probably benign Het
Tmem168 T C 6: 13,583,254 I543V probably benign Het
Tyw1 T C 5: 130,262,921 S77P probably damaging Het
Usp36 T G 11: 118,269,205 D471A possibly damaging Het
Vmn2r102 A G 17: 19,677,296 Y191C probably damaging Het
Vmn2r104 T C 17: 20,048,171 Q12R possibly damaging Het
Zfp820 A T 17: 21,819,399 I316N probably damaging Het
Zscan4-ps3 T C 7: 11,610,300 F62L probably damaging Het
Other mutations in Nlrp4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Nlrp4e APN 7 23343140 missense probably damaging 1.00
IGL00833:Nlrp4e APN 7 23340471 missense probably benign 0.00
IGL01017:Nlrp4e APN 7 23321667 missense possibly damaging 0.93
IGL01025:Nlrp4e APN 7 23353161 splice site probably benign
IGL01815:Nlrp4e APN 7 23321438 missense probably benign 0.02
IGL01924:Nlrp4e APN 7 23320830 nonsense probably null
IGL02245:Nlrp4e APN 7 23320875 missense probably damaging 1.00
IGL02745:Nlrp4e APN 7 23321291 missense probably damaging 1.00
IGL02746:Nlrp4e APN 7 23321839 missense probably benign 0.00
IGL02987:Nlrp4e APN 7 23301433 missense probably damaging 1.00
IGL02997:Nlrp4e APN 7 23301374 missense probably benign 0.04
IGL03193:Nlrp4e APN 7 23320826 missense probably damaging 1.00
IGL03304:Nlrp4e APN 7 23353343 critical splice donor site probably null
IGL03352:Nlrp4e APN 7 23320826 missense probably damaging 1.00
R0389:Nlrp4e UTSW 7 23355203 missense probably damaging 0.98
R1028:Nlrp4e UTSW 7 23321744 missense probably damaging 1.00
R1163:Nlrp4e UTSW 7 23320972 missense probably benign 0.03
R1269:Nlrp4e UTSW 7 23353338 missense possibly damaging 0.95
R1400:Nlrp4e UTSW 7 23321660 missense possibly damaging 0.93
R1497:Nlrp4e UTSW 7 23320372 missense probably benign 0.00
R1518:Nlrp4e UTSW 7 23321843 missense probably benign 0.33
R1716:Nlrp4e UTSW 7 23321033 missense possibly damaging 0.56
R1727:Nlrp4e UTSW 7 23320995 missense probably benign 0.01
R1998:Nlrp4e UTSW 7 23321246 missense probably benign 0.00
R2177:Nlrp4e UTSW 7 23355261 missense probably benign 0.00
R3724:Nlrp4e UTSW 7 23321377 missense probably benign 0.28
R3767:Nlrp4e UTSW 7 23340563 missense probably damaging 1.00
R3795:Nlrp4e UTSW 7 23320803 missense probably benign 0.35
R4387:Nlrp4e UTSW 7 23301477 missense probably benign 0.00
R4387:Nlrp4e UTSW 7 23321227 missense probably benign 0.01
R4388:Nlrp4e UTSW 7 23301477 missense probably benign 0.00
R4388:Nlrp4e UTSW 7 23321227 missense probably benign 0.01
R4389:Nlrp4e UTSW 7 23321227 missense probably benign 0.01
R4403:Nlrp4e UTSW 7 23321463 nonsense probably null
R4444:Nlrp4e UTSW 7 23321227 missense probably benign 0.01
R4486:Nlrp4e UTSW 7 23321227 missense probably benign 0.01
R4547:Nlrp4e UTSW 7 23336866 missense probably benign 0.00
R4553:Nlrp4e UTSW 7 23320979 missense probably benign
R4666:Nlrp4e UTSW 7 23336780 nonsense probably null
R4721:Nlrp4e UTSW 7 23321096 missense possibly damaging 0.84
R4728:Nlrp4e UTSW 7 23321564 missense probably benign
R4758:Nlrp4e UTSW 7 23320618 missense probably benign 0.17
R4775:Nlrp4e UTSW 7 23343100 missense probably benign 0.14
R4830:Nlrp4e UTSW 7 23336740 missense probably benign 0.03
R4954:Nlrp4e UTSW 7 23361893 nonsense probably null
R5277:Nlrp4e UTSW 7 23321438 missense probably benign 0.02
R5352:Nlrp4e UTSW 7 23353173 missense probably benign 0.26
R5521:Nlrp4e UTSW 7 23321765 missense probably benign 0.00
R5528:Nlrp4e UTSW 7 23336891 missense probably benign 0.07
R5537:Nlrp4e UTSW 7 23320489 missense probably benign 0.00
R5584:Nlrp4e UTSW 7 23321177 missense probably benign
R5683:Nlrp4e UTSW 7 23353272 missense probably damaging 0.99
R6160:Nlrp4e UTSW 7 23321306 missense probably damaging 0.99
R6313:Nlrp4e UTSW 7 23353172 missense probably benign
R6427:Nlrp4e UTSW 7 23320633 missense possibly damaging 0.48
R6647:Nlrp4e UTSW 7 23321315 missense probably benign 0.00
R6929:Nlrp4e UTSW 7 23336731 critical splice acceptor site probably null
R7307:Nlrp4e UTSW 7 23321528 missense probably benign 0.07
R7792:Nlrp4e UTSW 7 23321757 missense possibly damaging 0.60
R8169:Nlrp4e UTSW 7 23320506 missense probably benign 0.06
R8445:Nlrp4e UTSW 7 23340540 missense probably benign 0.00
R8487:Nlrp4e UTSW 7 23321558 missense probably benign 0.00
R8906:Nlrp4e UTSW 7 23321131 missense possibly damaging 0.88
R9124:Nlrp4e UTSW 7 23320978 missense probably benign
R9167:Nlrp4e UTSW 7 23340526 missense probably benign 0.00
R9181:Nlrp4e UTSW 7 23361845 nonsense probably null
R9219:Nlrp4e UTSW 7 23321516 missense possibly damaging 0.50
R9229:Nlrp4e UTSW 7 23321374 missense probably benign 0.00
R9321:Nlrp4e UTSW 7 23321330 missense probably benign
R9323:Nlrp4e UTSW 7 23321330 missense probably benign
R9379:Nlrp4e UTSW 7 23321330 missense probably benign
R9380:Nlrp4e UTSW 7 23321330 missense probably benign
R9448:Nlrp4e UTSW 7 23301531 missense probably benign
X0022:Nlrp4e UTSW 7 23343119 missense probably damaging 1.00
X0025:Nlrp4e UTSW 7 23343178 missense possibly damaging 0.91
X0026:Nlrp4e UTSW 7 23355223 missense possibly damaging 0.87
Predicted Primers
Posted On 2022-04-18