Incidental Mutation 'IGL02197:Nlrp4a'
ID284059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrp4a
Ensembl Gene ENSMUSG00000040601
Gene NameNLR family, pyrin domain containing 4A
SynonymsE330028A19Rik, Nalp-eta, Nalp4a
Accession Numbers

Genbank: NM_172896; MGI: 2443697

Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL02197
Quality Score
Status
Chromosome7
Chromosomal Location26435113-26476142 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 26449278 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 103 (K103N)
Ref Sequence ENSEMBL: ENSMUSP00000146044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068767] [ENSMUST00000119386] [ENSMUST00000146907]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068767
AA Change: K103N

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: K103N

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000119386
AA Change: K103N

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: K103N

DomainStartEndE-ValueType
PYRIN 6 89 6.48e-34 SMART
Pfam:NACHT 148 317 1.3e-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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146534
Predicted Effect possibly damaging
Transcript: ENSMUST00000146907
AA Change: K103N

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,906,735 T445A probably damaging Het
Arhgap21 T C 2: 20,880,306 S526G probably benign Het
Atad2b A T 12: 5,018,056 N1018I possibly damaging Het
Baz1b A G 5: 135,209,097 E209G probably benign Het
Capn11 T A 17: 45,639,856 T264S probably benign Het
Cdh1 A G 8: 106,653,786 E187G probably benign Het
Cps1 A G 1: 67,157,764 I325V probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dmbt1 A G 7: 131,085,422 probably benign Het
Dnaaf3 T C 7: 4,527,497 D203G probably damaging Het
Dscr3 G T 16: 94,501,690 probably benign Het
Eif2ak3 A G 6: 70,901,457 Y1045C probably benign Het
Fam13a T A 6: 58,935,601 D689V possibly damaging Het
Fnip1 T A 11: 54,493,374 L342I probably damaging Het
Frk T A 10: 34,484,334 N110K probably damaging Het
Gm5134 T C 10: 75,954,702 probably null Het
Gm53 T C 11: 96,251,723 noncoding transcript Het
Gm9312 A T 12: 24,252,162 noncoding transcript Het
Gm9936 A G 5: 114,857,091 probably benign Het
Hk3 A G 13: 55,014,468 F108L probably damaging Het
Homer2 A T 7: 81,610,399 S296T probably benign Het
Itga2b T A 11: 102,466,319 H245L probably benign Het
Ky T C 9: 102,537,786 F299S possibly damaging Het
Lama5 A G 2: 180,207,219 Y224H possibly damaging Het
Leng9 G T 7: 4,148,724 L318I probably damaging Het
Lpin1 A G 12: 16,558,407 probably null Het
Lrp2 T C 2: 69,466,880 I3246V probably benign Het
Map2k3 A G 11: 60,946,764 Y230C probably damaging Het
Myef2 T C 2: 125,114,039 probably null Het
Myh3 A T 11: 67,098,583 I1510L probably benign Het
Mypn T C 10: 63,123,278 D1088G possibly damaging Het
Nek9 C A 12: 85,307,930 V745L probably null Het
Neu1 T A 17: 34,934,665 V355D possibly damaging Het
Olfr1212 A G 2: 88,958,684 T73A probably benign Het
Olfr49 T C 14: 54,281,952 *314W probably null Het
Papola A T 12: 105,829,183 N631I possibly damaging Het
Pcnx T C 12: 81,919,104 S682P probably benign Het
Pcnx T C 12: 81,993,151 S2071P possibly damaging Het
Pga5 A G 19: 10,671,913 probably benign Het
Phlda1 T A 10: 111,507,153 M250K probably damaging Het
Phox2b A G 5: 67,096,526 probably benign Het
Pkdrej A G 15: 85,815,793 Y1981H possibly damaging Het
Pold1 G A 7: 44,542,239 P108S probably benign Het
Ptprg T G 14: 12,220,613 F442V probably damaging Het
Rab36 A G 10: 75,052,042 I248M probably damaging Het
Scnn1b G A 7: 121,902,890 R257Q probably null Het
Sdc1 A G 12: 8,790,835 Q200R possibly damaging Het
Slc10a7 A G 8: 78,515,663 T60A probably damaging Het
Snx13 A G 12: 35,106,801 D484G probably damaging Het
Tlr1 G A 5: 64,926,454 T260M probably damaging Het
Tpcn1 A G 5: 120,553,531 V286A probably damaging Het
Traip T G 9: 107,968,737 L343R possibly damaging Het
Unc13b A G 4: 43,165,828 H204R probably damaging Het
Unc80 A G 1: 66,530,065 S960G probably benign Het
V1ra8 C T 6: 90,203,202 P129L probably benign Het
Vps13b T A 15: 35,930,056 F3980I probably benign Het
Vps13d T C 4: 145,128,309 N2248S probably benign Het
Wnk4 T C 11: 101,263,957 L324P probably damaging Het
Other mutations in Nlrp4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Nlrp4a APN 7 26449985 missense possibly damaging 0.51
IGL00972:Nlrp4a APN 7 26457048 missense probably benign
IGL01081:Nlrp4a APN 7 26449829 missense probably benign 0.06
IGL01788:Nlrp4a APN 7 26454067 missense probably benign 0.17
IGL02001:Nlrp4a APN 7 26449969 missense probably benign 0.01
IGL02070:Nlrp4a APN 7 26449278 missense possibly damaging 0.77
IGL02175:Nlrp4a APN 7 26475097 missense probably damaging 1.00
IGL02193:Nlrp4a APN 7 26459692 missense probably damaging 1.00
IGL02193:Nlrp4a APN 7 26449278 missense possibly damaging 0.77
IGL02200:Nlrp4a APN 7 26449278 missense possibly damaging 0.77
IGL02202:Nlrp4a APN 7 26449278 missense possibly damaging 0.77
IGL02207:Nlrp4a APN 7 26449278 missense possibly damaging 0.77
IGL02237:Nlrp4a APN 7 26449278 missense possibly damaging 0.77
IGL02240:Nlrp4a APN 7 26449278 missense possibly damaging 0.77
IGL02658:Nlrp4a APN 7 26449713 missense probably benign 0.43
IGL02743:Nlrp4a APN 7 26459815 splice site probably benign
IGL02960:Nlrp4a APN 7 26449730 missense probably benign 0.05
IGL03064:Nlrp4a APN 7 26449509 missense probably benign 0.23
IGL03276:Nlrp4a APN 7 26464190 missense probably damaging 1.00
BB002:Nlrp4a UTSW 7 26450586 missense probably benign 0.10
BB012:Nlrp4a UTSW 7 26450586 missense probably benign 0.10
D3080:Nlrp4a UTSW 7 26444341 missense probably benign 0.22
P0019:Nlrp4a UTSW 7 26449637 missense probably damaging 1.00
R0020:Nlrp4a UTSW 7 26450372 missense probably damaging 1.00
R0240:Nlrp4a UTSW 7 26462516 missense probably benign 0.00
R0240:Nlrp4a UTSW 7 26462516 missense probably benign 0.00
R0372:Nlrp4a UTSW 7 26449232 splice site probably benign
R0466:Nlrp4a UTSW 7 26462620 splice site probably benign
R0544:Nlrp4a UTSW 7 26457130 missense probably benign 0.00
R1006:Nlrp4a UTSW 7 26453467 missense probably benign 0.30
R1072:Nlrp4a UTSW 7 26444435 missense probably damaging 1.00
R1432:Nlrp4a UTSW 7 26464197 frame shift probably null
R1655:Nlrp4a UTSW 7 26449651 missense possibly damaging 0.56
R1696:Nlrp4a UTSW 7 26450534 missense probably damaging 1.00
R2041:Nlrp4a UTSW 7 26450186 missense probably damaging 0.97
R2091:Nlrp4a UTSW 7 26450153 missense probably damaging 1.00
R2163:Nlrp4a UTSW 7 26453397 missense probably benign 0.00
R2174:Nlrp4a UTSW 7 26449424 missense probably damaging 1.00
R2319:Nlrp4a UTSW 7 26449894 missense probably benign 0.10
R2358:Nlrp4a UTSW 7 26464198 missense probably benign 0.03
R2680:Nlrp4a UTSW 7 26449230 splice site probably null
R3812:Nlrp4a UTSW 7 26449693 missense probably benign
R4114:Nlrp4a UTSW 7 26449940 missense probably damaging 1.00
R4664:Nlrp4a UTSW 7 26449518 nonsense probably null
R4676:Nlrp4a UTSW 7 26450229 missense probably damaging 1.00
R4708:Nlrp4a UTSW 7 26464108 missense probably benign 0.00
R4728:Nlrp4a UTSW 7 26475090 missense probably benign 0.24
R4815:Nlrp4a UTSW 7 26450808 missense probably benign 0.00
R4831:Nlrp4a UTSW 7 26450419 missense possibly damaging 0.92
R5007:Nlrp4a UTSW 7 26462480 missense probably damaging 0.99
R5253:Nlrp4a UTSW 7 26450492 missense probably benign 0.00
R5262:Nlrp4a UTSW 7 26459811 critical splice donor site probably null
R5441:Nlrp4a UTSW 7 26454153 missense probably damaging 1.00
R5639:Nlrp4a UTSW 7 26457030 missense probably benign 0.02
R5641:Nlrp4a UTSW 7 26450164 missense probably damaging 1.00
R5771:Nlrp4a UTSW 7 26453389 missense probably damaging 1.00
R6312:Nlrp4a UTSW 7 26449396 missense probably benign 0.11
R7131:Nlrp4a UTSW 7 26449833 missense probably benign 0.21
R7149:Nlrp4a UTSW 7 26450438 missense probably benign 0.00
R7348:Nlrp4a UTSW 7 26444273 missense probably damaging 1.00
R7384:Nlrp4a UTSW 7 26449538 missense not run
R7548:Nlrp4a UTSW 7 26450179 missense probably damaging 1.00
R7566:Nlrp4a UTSW 7 26449245 critical splice acceptor site probably null
R7646:Nlrp4a UTSW 7 26449562 missense probably damaging 0.96
R7692:Nlrp4a UTSW 7 26449265 missense probably benign 0.01
R7902:Nlrp4a UTSW 7 26450057 missense possibly damaging 0.65
R7925:Nlrp4a UTSW 7 26450586 missense probably benign 0.10
R7937:Nlrp4a UTSW 7 26464146 missense probably benign 0.00
R7992:Nlrp4a UTSW 7 26450645 missense possibly damaging 0.51
R8205:Nlrp4a UTSW 7 26450794 missense probably benign
R8477:Nlrp4a UTSW 7 26459794 missense probably benign
R8704:Nlrp4a UTSW 7 26457138 missense probably benign 0.02
T0975:Nlrp4a UTSW 7 26449637 missense probably damaging 1.00
X0022:Nlrp4a UTSW 7 26444342 missense probably damaging 0.99
Z1088:Nlrp4a UTSW 7 26454163 missense probably benign 0.01
Posted On2015-04-16