Incidental Mutation 'R9321:Nlrp4e'
ID 706201
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 # R9321 (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
1110008L16Rik A G 12: 55,304,649 I248V possibly damaging Het
Abca13 A G 11: 9,510,475 S4162G probably benign Het
Acvr2b T C 9: 119,428,285 I152T probably benign Het
Adam15 T A 3: 89,347,487 probably null Het
Adam34 C T 8: 43,652,206 G134D probably damaging Het
Aifm2 C T 10: 61,735,631 Q315* probably null Het
Akap10 A G 11: 61,900,409 F408S probably damaging Het
Ap3b2 T C 7: 81,464,504 probably null Het
Btbd2 A C 10: 80,647,841 V181G probably damaging Het
Carmil3 G T 14: 55,503,968 G1070V Het
Ccdc144b A T 3: 36,018,990 V381E probably damaging Het
Ceacam2 G T 7: 25,530,664 D172E possibly damaging Het
Crtc3 G A 7: 80,609,902 A203V probably benign Het
Dclre1a A G 19: 56,542,668 S749P probably damaging Het
Dnah2 C T 11: 69,448,113 probably null Het
Eif2ak4 G A 2: 118,462,317 V1341M possibly damaging Het
Enpp5 T C 17: 44,082,798 V295A possibly damaging Het
Gm1110 T A 9: 26,920,595 M87L probably benign Het
H2-Ab1 T C 17: 34,267,995 L241P probably damaging Het
Hmx2 A G 7: 131,555,591 T145A probably benign Het
Itpripl1 T C 2: 127,142,080 S41G probably benign Het
Kcnb2 G A 1: 15,709,569 D222N possibly damaging Het
Ldb3 C A 14: 34,544,142 G499* probably null Het
Lig1 T C 7: 13,301,009 F577S probably damaging Het
Lnx1 T C 5: 74,620,330 I177V probably damaging Het
Mark4 G T 7: 19,436,976 T323K probably benign Het
Mroh5 A G 15: 73,789,264 V301A probably benign Het
Mrvi1 A G 7: 110,925,327 S138P probably benign Het
Mtx3 T A 13: 92,847,589 W125R probably damaging Het
Myo18a G A 11: 77,842,544 G1404R probably damaging Het
Myom2 C T 8: 15,122,464 P1188S possibly damaging Het
Nars C T 18: 64,504,879 E335K probably damaging Het
Nfya A T 17: 48,400,466 V16E unknown Het
Nicn1 C T 9: 108,294,509 R163C possibly damaging Het
Nme5 T G 18: 34,571,544 I83L probably benign Het
Nos1 G C 5: 117,879,337 R255P probably benign Het
Nptx1 A G 11: 119,547,552 L13P unknown Het
Olfr1052 A T 2: 86,297,953 I46F probably benign Het
Olfr1294 A G 2: 111,538,089 S67P probably damaging Het
Olfr213 T C 6: 116,541,409 Y319H probably benign Het
Olfr272 G T 4: 52,911,314 T160N probably damaging Het
Olfr451-ps1 T A 6: 42,800,858 V39D possibly damaging Het
Olfr743 G A 14: 50,534,014 V201I probably benign Het
Pdzd2 T C 15: 12,385,937 T916A probably benign Het
Plekha6 A G 1: 133,281,811 N615S probably damaging Het
Rad52 T C 6: 119,913,008 Y32H probably damaging Het
Slc22a16 T A 10: 40,574,051 I161N probably damaging Het
Slx4 A G 16: 3,986,790 M720T probably benign Het
Spem1 T C 11: 69,821,835 H58R probably benign Het
Spg7 C A 8: 123,076,949 D239E probably benign Het
Tas2r123 A T 6: 132,848,132 M331L probably benign Het
Tcaf1 T C 6: 42,679,356 T229A probably benign Het
Tdrd1 T C 19: 56,860,335 L939P probably damaging Het
Timd2 T C 11: 46,687,089 T72A probably benign Het
Tmem179 G T 12: 112,510,956 N31K probably damaging Het
Tpd52l1 T C 10: 31,338,193 S165G Het
Tubgcp6 T C 15: 89,107,983 T600A probably damaging Het
Txlna T A 4: 129,634,453 E230D probably damaging Het
Ush2a A T 1: 188,356,951 I368F probably damaging Het
Vmn1r76 A T 7: 11,931,167 M40K possibly damaging Het
Zfp592 C T 7: 81,041,478 S1135L possibly damaging Het
Zfp606 A G 7: 12,492,683 T244A possibly 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
R9323:Nlrp4e UTSW 7 23321330 missense probably benign
R9325: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