Incidental Mutation 'R4830:Nlrp4e'
ID 372740
Institutional Source Beutler Lab
Gene Symbol Nlrp4e
Ensembl Gene ENSMUSG00000045693
Gene Name NLR family, pyrin domain containing 4E
Synonyms 4930406H16Rik, Nalp4e, Nalp-epsilon
MMRRC Submission 042446-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4830 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 23000617-23061702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23036165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 673 (N673Y)
Ref Sequence ENSEMBL: ENSMUSP00000075794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076470]
AlphaFold Q66X19
Predicted Effect probably benign
Transcript: ENSMUST00000076470
AA Change: N673Y

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: N673Y

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (71/73)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 C A 3: 121,553,933 (GRCm39) G643V probably damaging Het
Adamtsl1 A G 4: 86,274,619 (GRCm39) E1225G probably damaging Het
Agbl5 G A 5: 31,048,059 (GRCm39) R111H probably damaging Het
Ankle2 A C 5: 110,389,879 (GRCm39) K446Q probably damaging Het
Boc A C 16: 44,310,520 (GRCm39) M800R probably damaging Het
Ccnt1 A T 15: 98,441,332 (GRCm39) N645K probably damaging Het
Cd93 G A 2: 148,285,299 (GRCm39) Q16* probably null Het
Cpsf4l G T 11: 113,600,328 (GRCm39) probably benign Het
Cuzd1 T A 7: 130,919,783 (GRCm39) D111V probably damaging Het
Dab2 T C 15: 6,457,008 (GRCm39) C232R probably benign Het
Dmpk A T 7: 18,821,453 (GRCm39) Y237F probably damaging Het
Dnah6 T A 6: 73,021,745 (GRCm39) T3526S possibly damaging Het
Dock2 T C 11: 34,223,767 (GRCm39) probably null Het
Dsp G A 13: 38,376,840 (GRCm39) V1542I probably benign Het
Dst T A 1: 34,237,586 (GRCm39) probably null Het
Esd T C 14: 74,978,600 (GRCm39) L54S probably damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Gm3604 A T 13: 62,516,857 (GRCm39) N500K probably damaging Het
Grhl2 T A 15: 37,335,903 (GRCm39) probably null Het
Gsto1 C T 19: 47,852,830 (GRCm39) R222C probably benign Het
Inpp4a T A 1: 37,410,861 (GRCm39) M343K probably damaging Het
Itpripl2 T C 7: 118,090,280 (GRCm39) Q93R probably benign Het
Jakmip2 G A 18: 43,700,208 (GRCm39) T450I probably benign Het
Kdm6b A T 11: 69,294,620 (GRCm39) I1186N unknown Het
Kif1a T C 1: 92,948,931 (GRCm39) probably null Het
Klhl20 T C 1: 160,925,946 (GRCm39) K434R probably benign Het
Lemd3 T C 10: 120,767,853 (GRCm39) D697G probably damaging Het
Lipo3 A G 19: 33,753,987 (GRCm39) S383P probably damaging Het
Ltn1 C A 16: 87,176,582 (GRCm39) K1741N probably damaging Het
Lvrn A T 18: 47,038,418 (GRCm39) T991S probably damaging Het
Macroh2a2 C T 10: 61,575,132 (GRCm39) D355N possibly damaging Het
Mast3 C A 8: 71,241,559 (GRCm39) R151L possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myoz1 T C 14: 20,705,377 (GRCm39) K14E probably damaging Het
Neb G T 2: 52,082,532 (GRCm39) Q5450K probably damaging Het
Nedd1 T A 10: 92,522,120 (GRCm39) N639I probably damaging Het
Nop53 C T 7: 15,676,129 (GRCm39) R190Q probably damaging Het
Notch4 T C 17: 34,789,092 (GRCm39) Y468H probably damaging Het
Obscn T C 11: 58,958,433 (GRCm39) T3507A probably damaging Het
Opn5 T C 17: 42,922,187 (GRCm39) H5R probably benign Het
Or4l15 T C 14: 50,197,681 (GRCm39) N283D probably damaging Het
Patl1 T C 19: 11,902,515 (GRCm39) M349T probably benign Het
Phactr3 A G 2: 177,925,811 (GRCm39) N362S probably damaging Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Rapgef5 G A 12: 117,719,809 (GRCm39) R579Q probably damaging Het
Rgl1 T C 1: 152,430,081 (GRCm39) D234G probably benign Het
Serpinb3a C T 1: 106,976,316 (GRCm39) E122K probably benign Het
Slc22a15 T C 3: 101,782,919 (GRCm39) probably benign Het
Slc25a12 A T 2: 71,127,149 (GRCm39) V344E probably damaging Het
Slc43a2 T C 11: 75,434,119 (GRCm39) L99P probably damaging Het
Smim27 G T 4: 40,269,719 (GRCm39) probably null Het
Smtn A G 11: 3,470,736 (GRCm39) probably benign Het
Szt2 A T 4: 118,226,445 (GRCm39) Y3001N unknown Het
Tgfbr3 G T 5: 107,257,585 (GRCm39) P825T probably damaging Het
Tnpo3 T C 6: 29,568,937 (GRCm39) T472A probably benign Het
Trf T A 9: 103,105,114 (GRCm39) D66V probably damaging Het
Vmn1r124 A G 7: 20,993,624 (GRCm39) C307R probably damaging Het
Vps13b T A 15: 35,452,370 (GRCm39) F656Y possibly damaging Het
Zic1 G T 9: 91,244,584 (GRCm39) S358R probably damaging Het
Other mutations in Nlrp4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Nlrp4e APN 7 23,042,565 (GRCm39) missense probably damaging 1.00
IGL00833:Nlrp4e APN 7 23,039,896 (GRCm39) missense probably benign 0.00
IGL01017:Nlrp4e APN 7 23,021,092 (GRCm39) missense possibly damaging 0.93
IGL01025:Nlrp4e APN 7 23,052,586 (GRCm39) splice site probably benign
IGL01815:Nlrp4e APN 7 23,020,863 (GRCm39) missense probably benign 0.02
IGL01924:Nlrp4e APN 7 23,020,255 (GRCm39) nonsense probably null
IGL02245:Nlrp4e APN 7 23,020,300 (GRCm39) missense probably damaging 1.00
IGL02745:Nlrp4e APN 7 23,020,716 (GRCm39) missense probably damaging 1.00
IGL02746:Nlrp4e APN 7 23,021,264 (GRCm39) missense probably benign 0.00
IGL02987:Nlrp4e APN 7 23,000,858 (GRCm39) missense probably damaging 1.00
IGL02997:Nlrp4e APN 7 23,000,799 (GRCm39) missense probably benign 0.04
IGL03193:Nlrp4e APN 7 23,020,251 (GRCm39) missense probably damaging 1.00
IGL03304:Nlrp4e APN 7 23,052,768 (GRCm39) critical splice donor site probably null
IGL03352:Nlrp4e APN 7 23,020,251 (GRCm39) missense probably damaging 1.00
R0389:Nlrp4e UTSW 7 23,054,628 (GRCm39) missense probably damaging 0.98
R1028:Nlrp4e UTSW 7 23,021,169 (GRCm39) missense probably damaging 1.00
R1163:Nlrp4e UTSW 7 23,020,397 (GRCm39) missense probably benign 0.03
R1269:Nlrp4e UTSW 7 23,052,763 (GRCm39) missense possibly damaging 0.95
R1400:Nlrp4e UTSW 7 23,021,085 (GRCm39) missense possibly damaging 0.93
R1497:Nlrp4e UTSW 7 23,019,797 (GRCm39) missense probably benign 0.00
R1518:Nlrp4e UTSW 7 23,021,268 (GRCm39) missense probably benign 0.33
R1716:Nlrp4e UTSW 7 23,020,458 (GRCm39) missense possibly damaging 0.56
R1727:Nlrp4e UTSW 7 23,020,420 (GRCm39) missense probably benign 0.01
R1998:Nlrp4e UTSW 7 23,020,671 (GRCm39) missense probably benign 0.00
R2177:Nlrp4e UTSW 7 23,054,686 (GRCm39) missense probably benign 0.00
R3724:Nlrp4e UTSW 7 23,020,802 (GRCm39) missense probably benign 0.28
R3767:Nlrp4e UTSW 7 23,039,988 (GRCm39) missense probably damaging 1.00
R3795:Nlrp4e UTSW 7 23,020,228 (GRCm39) missense probably benign 0.35
R4387:Nlrp4e UTSW 7 23,020,652 (GRCm39) missense probably benign 0.01
R4387:Nlrp4e UTSW 7 23,000,902 (GRCm39) missense probably benign 0.00
R4388:Nlrp4e UTSW 7 23,020,652 (GRCm39) missense probably benign 0.01
R4388:Nlrp4e UTSW 7 23,000,902 (GRCm39) missense probably benign 0.00
R4389:Nlrp4e UTSW 7 23,020,652 (GRCm39) missense probably benign 0.01
R4403:Nlrp4e UTSW 7 23,020,888 (GRCm39) nonsense probably null
R4444:Nlrp4e UTSW 7 23,020,652 (GRCm39) missense probably benign 0.01
R4486:Nlrp4e UTSW 7 23,020,652 (GRCm39) missense probably benign 0.01
R4547:Nlrp4e UTSW 7 23,036,291 (GRCm39) missense probably benign 0.00
R4553:Nlrp4e UTSW 7 23,020,404 (GRCm39) missense probably benign
R4666:Nlrp4e UTSW 7 23,036,205 (GRCm39) nonsense probably null
R4721:Nlrp4e UTSW 7 23,020,521 (GRCm39) missense possibly damaging 0.84
R4728:Nlrp4e UTSW 7 23,020,989 (GRCm39) missense probably benign
R4758:Nlrp4e UTSW 7 23,020,043 (GRCm39) missense probably benign 0.17
R4775:Nlrp4e UTSW 7 23,042,525 (GRCm39) missense probably benign 0.14
R4954:Nlrp4e UTSW 7 23,061,318 (GRCm39) nonsense probably null
R5277:Nlrp4e UTSW 7 23,020,863 (GRCm39) missense probably benign 0.02
R5352:Nlrp4e UTSW 7 23,052,598 (GRCm39) missense probably benign 0.26
R5521:Nlrp4e UTSW 7 23,021,190 (GRCm39) missense probably benign 0.00
R5528:Nlrp4e UTSW 7 23,036,316 (GRCm39) missense probably benign 0.07
R5537:Nlrp4e UTSW 7 23,019,914 (GRCm39) missense probably benign 0.00
R5584:Nlrp4e UTSW 7 23,020,602 (GRCm39) missense probably benign
R5683:Nlrp4e UTSW 7 23,052,697 (GRCm39) missense probably damaging 0.99
R6160:Nlrp4e UTSW 7 23,020,731 (GRCm39) missense probably damaging 0.99
R6313:Nlrp4e UTSW 7 23,052,597 (GRCm39) missense probably benign
R6427:Nlrp4e UTSW 7 23,020,058 (GRCm39) missense possibly damaging 0.48
R6647:Nlrp4e UTSW 7 23,020,740 (GRCm39) missense probably benign 0.00
R6929:Nlrp4e UTSW 7 23,036,156 (GRCm39) critical splice acceptor site probably null
R7307:Nlrp4e UTSW 7 23,020,953 (GRCm39) missense probably benign 0.07
R7792:Nlrp4e UTSW 7 23,021,182 (GRCm39) missense possibly damaging 0.60
R8169:Nlrp4e UTSW 7 23,019,931 (GRCm39) missense probably benign 0.06
R8445:Nlrp4e UTSW 7 23,039,965 (GRCm39) missense probably benign 0.00
R8487:Nlrp4e UTSW 7 23,020,983 (GRCm39) missense probably benign 0.00
R8906:Nlrp4e UTSW 7 23,020,556 (GRCm39) missense possibly damaging 0.88
R9124:Nlrp4e UTSW 7 23,020,403 (GRCm39) missense probably benign
R9167:Nlrp4e UTSW 7 23,039,951 (GRCm39) missense probably benign 0.00
R9181:Nlrp4e UTSW 7 23,061,270 (GRCm39) nonsense probably null
R9219:Nlrp4e UTSW 7 23,020,941 (GRCm39) missense possibly damaging 0.50
R9229:Nlrp4e UTSW 7 23,020,799 (GRCm39) missense probably benign 0.00
R9321:Nlrp4e UTSW 7 23,020,755 (GRCm39) missense probably benign
R9323:Nlrp4e UTSW 7 23,020,755 (GRCm39) missense probably benign
R9325:Nlrp4e UTSW 7 23,020,755 (GRCm39) missense probably benign
R9379:Nlrp4e UTSW 7 23,020,755 (GRCm39) missense probably benign
R9380:Nlrp4e UTSW 7 23,020,755 (GRCm39) missense probably benign
R9448:Nlrp4e UTSW 7 23,000,956 (GRCm39) missense probably benign
R9523:Nlrp4e UTSW 7 23,054,636 (GRCm39) missense probably benign 0.00
R9593:Nlrp4e UTSW 7 23,020,197 (GRCm39) missense probably benign 0.19
X0022:Nlrp4e UTSW 7 23,042,544 (GRCm39) missense probably damaging 1.00
X0025:Nlrp4e UTSW 7 23,042,603 (GRCm39) missense possibly damaging 0.91
X0026:Nlrp4e UTSW 7 23,054,648 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- CAGGCTTTCCTTATGTGACAGC -3'
(R):5'- CTTTAAGGGGAGTCAGTGAGCTAG -3'

Sequencing Primer
(F):5'- ATGTGACAGCCAACCTTGTC -3'
(R):5'- TGAGCTAGGAGAACACACAGACTTAC -3'
Posted On 2016-03-01