Incidental Mutation 'R0360:Nlrp1a'
ID 65682
Institutional Source Beutler Lab
Gene Symbol Nlrp1a
Ensembl Gene ENSMUSG00000069830
Gene Name NLR family, pyrin domain containing 1A
Synonyms Nalp1
MMRRC Submission 038566-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R0360 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 70983062-71035530 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 71004830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048514] [ENSMUST00000108518]
AlphaFold Q2LKU9
Predicted Effect unknown
Transcript: ENSMUST00000048514
AA Change: Q711L
SMART Domains Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: Q711L

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Pfam:NACHT 133 302 4.6e-41 PFAM
low complexity region 482 494 N/A INTRINSIC
LRR 632 659 4.53e-1 SMART
LRR 742 769 3.04e-5 SMART
low complexity region 856 870 N/A INTRINSIC
Pfam:FIIND 921 1173 1.6e-102 PFAM
Pfam:CARD 1209 1292 2.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108518
SMART Domains Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Pfam:NACHT 133 302 1.1e-40 PFAM
low complexity region 482 494 N/A INTRINSIC
LRR 632 659 4.53e-1 SMART
LRR 661 688 2.85e1 SMART
LRR 689 716 3.04e-5 SMART
Pfam:FIIND 819 1073 3e-136 PFAM
Pfam:CARD 1091 1174 8.2e-20 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 98% (93/95)
MGI Phenotype PHENOTYPE: Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,310,553 (GRCm39) probably benign Het
Adcyap1r1 G T 6: 55,452,508 (GRCm39) probably benign Het
Ankrd6 T C 4: 32,836,424 (GRCm39) T44A probably damaging Het
Ano7 A G 1: 93,316,380 (GRCm39) D221G probably benign Het
Bhlhe40 C A 6: 108,641,711 (GRCm39) N218K probably damaging Het
Bms1 A G 6: 118,382,251 (GRCm39) V429A probably benign Het
C7 T A 15: 5,018,444 (GRCm39) T800S probably benign Het
Camta2 G A 11: 70,574,136 (GRCm39) T127I probably damaging Het
Ccdc13 T A 9: 121,627,282 (GRCm39) N665I probably damaging Het
Ccdc157 T C 11: 4,096,663 (GRCm39) E362G probably damaging Het
Ccdc73 T A 2: 104,811,352 (GRCm39) N310K probably damaging Het
Cfap91 T A 16: 38,118,659 (GRCm39) probably null Het
Cmklr1 A T 5: 113,752,578 (GRCm39) L141H probably damaging Het
Cnst C A 1: 179,407,100 (GRCm39) A49E probably benign Het
Col5a3 C T 9: 20,683,762 (GRCm39) R1498Q unknown Het
Crybb3 T A 5: 113,223,819 (GRCm39) I197F probably damaging Het
Cryzl1 G A 16: 91,504,155 (GRCm39) P97S probably benign Het
Cubn T C 2: 13,315,318 (GRCm39) probably benign Het
Cyp2d37-ps T C 15: 82,574,253 (GRCm39) noncoding transcript Het
Cyp4a12b C A 4: 115,290,117 (GRCm39) N223K probably benign Het
D16Ertd472e A T 16: 78,344,773 (GRCm39) C112S probably benign Het
Dennd2a T C 6: 39,485,233 (GRCm39) T349A probably benign Het
Dock5 G A 14: 68,060,129 (GRCm39) probably benign Het
Dpp6 T C 5: 27,857,267 (GRCm39) L404P probably damaging Het
Dsc3 T A 18: 20,104,639 (GRCm39) T563S possibly damaging Het
Dync2h1 T A 9: 7,113,182 (GRCm39) E214D possibly damaging Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elmo1 A T 13: 20,748,663 (GRCm39) K503* probably null Het
Eng T C 2: 32,569,149 (GRCm39) S559P probably benign Het
Epc2 T A 2: 49,427,145 (GRCm39) V563E possibly damaging Het
Fancm A G 12: 65,122,724 (GRCm39) Y82C probably damaging Het
Flt4 A T 11: 49,527,818 (GRCm39) M924L probably benign Het
Gabpa T A 16: 84,654,275 (GRCm39) N317K possibly damaging Het
Gchfr T G 2: 118,998,327 (GRCm39) Y3* probably null Het
Gli3 G T 13: 15,899,349 (GRCm39) G912V probably benign Het
Gm10295 C A 7: 71,000,361 (GRCm39) C73F unknown Het
Gm10382 G T 5: 125,466,728 (GRCm39) probably benign Het
Gp1ba T C 11: 70,531,284 (GRCm39) probably benign Het
Gpr146 G A 5: 139,364,933 (GRCm39) probably benign Het
Hexd T A 11: 121,102,969 (GRCm39) H62Q probably benign Het
Hgd T A 16: 37,431,546 (GRCm39) probably benign Het
Hs6st1 G A 1: 36,108,266 (GRCm39) probably null Het
Icam4 A G 9: 20,941,117 (GRCm39) Y123C probably damaging Het
Il24 A G 1: 130,811,674 (GRCm39) V134A probably damaging Het
Iqcb1 G T 16: 36,692,670 (GRCm39) A562S probably damaging Het
Iqgap2 A C 13: 95,867,783 (GRCm39) probably benign Het
Islr2 T C 9: 58,107,027 (GRCm39) T78A possibly damaging Het
Kif1b A G 4: 149,347,186 (GRCm39) I330T probably damaging Het
Kirrel1 T C 3: 86,997,106 (GRCm39) Y287C probably damaging Het
Klf10 C T 15: 38,297,090 (GRCm39) V317M probably benign Het
Klhl9 T G 4: 88,638,527 (GRCm39) K571N probably benign Het
Lin37 T C 7: 30,256,438 (GRCm39) I97V possibly damaging Het
Lrrc37a C T 11: 103,391,466 (GRCm39) V1320I possibly damaging Het
Lrrc74a A G 12: 86,784,569 (GRCm39) H99R probably damaging Het
Me3 T A 7: 89,435,622 (GRCm39) probably null Het
Med13 T C 11: 86,219,987 (GRCm39) probably benign Het
Myh6 A T 14: 55,185,804 (GRCm39) Y1490* probably null Het
Myo10 T C 15: 25,804,454 (GRCm39) L1583P probably damaging Het
Nkx6-3 A G 8: 23,647,722 (GRCm39) E227G possibly damaging Het
Nlrp5-ps A C 7: 14,317,016 (GRCm39) noncoding transcript Het
Nup188 T G 2: 30,216,491 (GRCm39) I765S probably null Het
Obscn G A 11: 59,019,107 (GRCm39) A969V probably benign Het
Or11a4 T C 17: 37,536,934 (GRCm39) L306P possibly damaging Het
Or1j19 T A 2: 36,677,452 (GRCm39) M305K probably benign Het
Or5a1 G T 19: 12,097,217 (GRCm39) D286E possibly damaging Het
Or8k33 A T 2: 86,384,123 (GRCm39) L115Q probably damaging Het
Otogl T A 10: 107,606,511 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,715,611 (GRCm39) R1472W probably damaging Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plscr4 T A 9: 92,370,814 (GRCm39) probably benign Het
Pon2 G A 6: 5,266,156 (GRCm39) Q288* probably null Het
Ptpn13 C A 5: 103,681,214 (GRCm39) R805S probably damaging Het
Pyroxd2 A T 19: 42,735,992 (GRCm39) V62D probably damaging Het
Rab37 G T 11: 115,047,790 (GRCm39) C44F probably damaging Het
Rbm44 T C 1: 91,080,069 (GRCm39) S52P probably benign Het
Rgl3 A G 9: 21,888,153 (GRCm39) W454R probably damaging Het
Rita1 A G 5: 120,747,837 (GRCm39) S154P probably benign Het
Scn5a T C 9: 119,351,665 (GRCm39) D772G probably damaging Het
Sec23ip G A 7: 128,363,129 (GRCm39) probably benign Het
Skic8 A T 9: 54,634,862 (GRCm39) probably benign Het
Slc23a1 T A 18: 35,756,032 (GRCm39) probably benign Het
Slco1a8 A C 6: 141,928,053 (GRCm39) probably benign Het
Sparcl1 T A 5: 104,237,503 (GRCm39) D444V probably damaging Het
Taar6 C A 10: 23,861,046 (GRCm39) V167L probably benign Het
Tmcc3 T A 10: 94,414,407 (GRCm39) N36K probably benign Het
Tmem200c T A 17: 69,147,543 (GRCm39) V42E probably damaging Het
Trhde T C 10: 114,338,887 (GRCm39) probably benign Het
Tshz3 A G 7: 36,469,958 (GRCm39) E649G probably benign Het
Utp4 T C 8: 107,625,169 (GRCm39) probably benign Het
Vmn1r30 A G 6: 58,412,262 (GRCm39) V190A probably benign Het
Vmn1r35 A G 6: 66,655,827 (GRCm39) I281T probably damaging Het
Vmn1r58 G T 7: 5,413,329 (GRCm39) H300Q probably benign Het
Vmn1r84 A G 7: 12,095,799 (GRCm39) L286P probably damaging Het
Vmn2r54 A T 7: 12,349,576 (GRCm39) C669S probably damaging Het
Zfp623 T C 15: 75,820,510 (GRCm39) S489P probably benign Het
Other mutations in Nlrp1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Nlrp1a APN 11 70,983,783 (GRCm39) missense probably benign 0.00
IGL00771:Nlrp1a APN 11 71,013,567 (GRCm39) nonsense probably null
IGL01408:Nlrp1a APN 11 71,013,742 (GRCm39) missense probably benign 0.04
IGL01886:Nlrp1a APN 11 71,014,327 (GRCm39) missense probably benign
IGL02221:Nlrp1a APN 11 71,013,944 (GRCm39) missense possibly damaging 0.88
IGL02291:Nlrp1a APN 11 71,013,415 (GRCm39) critical splice donor site probably null
IGL02375:Nlrp1a APN 11 71,004,339 (GRCm39) nonsense probably null
IGL02408:Nlrp1a APN 11 71,013,456 (GRCm39) missense probably benign 0.00
IGL02516:Nlrp1a APN 11 71,005,286 (GRCm39) missense probably damaging 1.00
IGL02583:Nlrp1a APN 11 71,014,227 (GRCm39) missense probably benign 0.03
IGL02622:Nlrp1a APN 11 71,013,826 (GRCm39) missense possibly damaging 0.88
IGL02642:Nlrp1a APN 11 71,014,358 (GRCm39) missense probably benign 0.12
IGL02823:Nlrp1a APN 11 70,983,249 (GRCm39) missense probably damaging 0.96
IGL02859:Nlrp1a APN 11 70,996,912 (GRCm39) missense possibly damaging 0.57
IGL02997:Nlrp1a APN 11 71,014,491 (GRCm39) missense probably damaging 1.00
IGL03342:Nlrp1a APN 11 71,013,617 (GRCm39) missense probably benign 0.19
Ants UTSW 11 71,033,164 (GRCm39) missense probably benign 0.01
dreary UTSW 11 71,004,466 (GRCm39) critical splice acceptor site probably null
picnic UTSW 11 71,013,573 (GRCm39) missense possibly damaging 0.87
seedless UTSW 11 71,014,378 (GRCm39) missense probably benign 0.44
watermelon UTSW 11 71,013,531 (GRCm39) missense probably benign 0.08
R0022:Nlrp1a UTSW 11 71,014,207 (GRCm39) missense probably damaging 0.99
R0345:Nlrp1a UTSW 11 71,014,501 (GRCm39) missense probably damaging 1.00
R0364:Nlrp1a UTSW 11 71,004,830 (GRCm39) intron probably benign
R0566:Nlrp1a UTSW 11 71,013,768 (GRCm39) missense probably benign 0.00
R1177:Nlrp1a UTSW 11 70,998,547 (GRCm39) missense probably damaging 1.00
R1240:Nlrp1a UTSW 11 71,004,292 (GRCm39) critical splice donor site probably null
R1263:Nlrp1a UTSW 11 70,987,948 (GRCm39) missense probably benign 0.01
R1681:Nlrp1a UTSW 11 71,033,184 (GRCm39) missense unknown
R1743:Nlrp1a UTSW 11 71,015,032 (GRCm39) missense probably benign 0.04
R1826:Nlrp1a UTSW 11 70,998,806 (GRCm39) intron probably benign
R1826:Nlrp1a UTSW 11 71,013,573 (GRCm39) missense possibly damaging 0.87
R1981:Nlrp1a UTSW 11 70,989,764 (GRCm39) missense probably damaging 1.00
R2083:Nlrp1a UTSW 11 71,015,046 (GRCm39) missense possibly damaging 0.59
R2116:Nlrp1a UTSW 11 71,005,326 (GRCm39) nonsense probably null
R2134:Nlrp1a UTSW 11 71,015,014 (GRCm39) missense probably benign 0.00
R2148:Nlrp1a UTSW 11 71,013,733 (GRCm39) nonsense probably null
R2301:Nlrp1a UTSW 11 70,996,927 (GRCm39) missense possibly damaging 0.94
R3029:Nlrp1a UTSW 11 71,014,456 (GRCm39) missense probably damaging 1.00
R3113:Nlrp1a UTSW 11 71,014,491 (GRCm39) missense probably damaging 1.00
R3801:Nlrp1a UTSW 11 71,013,529 (GRCm39) missense probably benign 0.08
R3898:Nlrp1a UTSW 11 71,013,700 (GRCm39) missense probably benign 0.00
R4254:Nlrp1a UTSW 11 71,013,854 (GRCm39) nonsense probably null
R4397:Nlrp1a UTSW 11 70,988,030 (GRCm39) missense probably benign 0.00
R4647:Nlrp1a UTSW 11 70,987,952 (GRCm39) splice site probably null
R4740:Nlrp1a UTSW 11 71,004,466 (GRCm39) critical splice acceptor site probably null
R4965:Nlrp1a UTSW 11 70,983,141 (GRCm39) missense possibly damaging 0.94
R5009:Nlrp1a UTSW 11 71,013,531 (GRCm39) missense probably benign 0.08
R5103:Nlrp1a UTSW 11 70,990,352 (GRCm39) missense probably damaging 0.99
R5355:Nlrp1a UTSW 11 71,015,077 (GRCm39) missense probably benign 0.00
R5577:Nlrp1a UTSW 11 70,990,400 (GRCm39) missense probably damaging 1.00
R5892:Nlrp1a UTSW 11 70,990,471 (GRCm39) missense probably damaging 1.00
R5949:Nlrp1a UTSW 11 70,989,815 (GRCm39) missense probably damaging 1.00
R5964:Nlrp1a UTSW 11 71,013,846 (GRCm39) missense probably benign 0.00
R6220:Nlrp1a UTSW 11 71,033,164 (GRCm39) missense probably benign 0.01
R6564:Nlrp1a UTSW 11 71,014,398 (GRCm39) missense probably damaging 1.00
R6586:Nlrp1a UTSW 11 70,996,899 (GRCm39) missense probably benign 0.00
R6925:Nlrp1a UTSW 11 70,983,339 (GRCm39) missense probably null 0.99
R7013:Nlrp1a UTSW 11 71,014,378 (GRCm39) missense probably benign 0.44
R7155:Nlrp1a UTSW 11 71,014,905 (GRCm39) missense possibly damaging 0.93
R7214:Nlrp1a UTSW 11 71,014,119 (GRCm39) missense probably damaging 1.00
R7268:Nlrp1a UTSW 11 71,015,068 (GRCm39) missense probably benign 0.00
R7388:Nlrp1a UTSW 11 71,014,023 (GRCm39) missense probably damaging 1.00
R7404:Nlrp1a UTSW 11 70,987,919 (GRCm39) nonsense probably null
R7409:Nlrp1a UTSW 11 71,013,634 (GRCm39) missense probably benign 0.03
R7410:Nlrp1a UTSW 11 71,014,683 (GRCm39) missense probably damaging 0.99
R7440:Nlrp1a UTSW 11 70,983,150 (GRCm39) missense probably damaging 0.99
R7447:Nlrp1a UTSW 11 70,983,237 (GRCm39) missense probably damaging 1.00
R7450:Nlrp1a UTSW 11 70,998,484 (GRCm39) missense probably damaging 1.00
R7569:Nlrp1a UTSW 11 70,999,869 (GRCm39) missense probably benign 0.00
R7600:Nlrp1a UTSW 11 70,989,740 (GRCm39) missense probably damaging 0.96
R7634:Nlrp1a UTSW 11 70,990,354 (GRCm39) missense probably benign 0.19
R7734:Nlrp1a UTSW 11 70,998,826 (GRCm39) missense unknown
R7747:Nlrp1a UTSW 11 71,014,234 (GRCm39) missense possibly damaging 0.85
R8471:Nlrp1a UTSW 11 71,013,885 (GRCm39) missense possibly damaging 0.68
R8482:Nlrp1a UTSW 11 70,999,901 (GRCm39) splice site probably null
R9008:Nlrp1a UTSW 11 71,014,735 (GRCm39) missense possibly damaging 0.89
R9028:Nlrp1a UTSW 11 71,013,819 (GRCm39) missense probably benign 0.27
R9441:Nlrp1a UTSW 11 71,013,934 (GRCm39) missense probably damaging 1.00
R9516:Nlrp1a UTSW 11 70,998,488 (GRCm39) missense probably benign 0.05
R9701:Nlrp1a UTSW 11 70,987,946 (GRCm39) missense probably benign 0.08
X0026:Nlrp1a UTSW 11 71,033,142 (GRCm39) missense probably benign 0.18
Z1177:Nlrp1a UTSW 11 71,013,995 (GRCm39) missense probably benign 0.27
Z1186:Nlrp1a UTSW 11 71,014,914 (GRCm39) missense probably benign
Z1186:Nlrp1a UTSW 11 71,033,355 (GRCm39) critical splice acceptor site probably null
Z1186:Nlrp1a UTSW 11 70,983,069 (GRCm39) missense probably benign
Z1186:Nlrp1a UTSW 11 70,988,077 (GRCm39) missense probably damaging 0.96
Z1186:Nlrp1a UTSW 11 70,990,442 (GRCm39) missense probably benign
Z1187:Nlrp1a UTSW 11 70,990,442 (GRCm39) missense probably benign
Z1187:Nlrp1a UTSW 11 70,988,077 (GRCm39) missense probably damaging 0.96
Z1187:Nlrp1a UTSW 11 70,983,069 (GRCm39) missense probably benign
Z1187:Nlrp1a UTSW 11 71,033,355 (GRCm39) critical splice acceptor site probably null
Z1187:Nlrp1a UTSW 11 71,014,914 (GRCm39) missense probably benign
Z1188:Nlrp1a UTSW 11 70,990,442 (GRCm39) missense probably benign
Z1188:Nlrp1a UTSW 11 70,988,077 (GRCm39) missense probably damaging 0.96
Z1188:Nlrp1a UTSW 11 70,983,069 (GRCm39) missense probably benign
Z1188:Nlrp1a UTSW 11 71,033,355 (GRCm39) critical splice acceptor site probably null
Z1188:Nlrp1a UTSW 11 71,014,914 (GRCm39) missense probably benign
Z1189:Nlrp1a UTSW 11 70,990,442 (GRCm39) missense probably benign
Z1189:Nlrp1a UTSW 11 70,988,077 (GRCm39) missense probably damaging 0.96
Z1189:Nlrp1a UTSW 11 70,983,069 (GRCm39) missense probably benign
Z1189:Nlrp1a UTSW 11 71,033,355 (GRCm39) critical splice acceptor site probably null
Z1189:Nlrp1a UTSW 11 71,014,914 (GRCm39) missense probably benign
Z1190:Nlrp1a UTSW 11 70,990,442 (GRCm39) missense probably benign
Z1190:Nlrp1a UTSW 11 70,988,077 (GRCm39) missense probably damaging 0.96
Z1190:Nlrp1a UTSW 11 70,983,069 (GRCm39) missense probably benign
Z1190:Nlrp1a UTSW 11 71,033,355 (GRCm39) critical splice acceptor site probably null
Z1190:Nlrp1a UTSW 11 71,014,914 (GRCm39) missense probably benign
Z1191:Nlrp1a UTSW 11 70,990,442 (GRCm39) missense probably benign
Z1191:Nlrp1a UTSW 11 70,988,077 (GRCm39) missense probably damaging 0.96
Z1191:Nlrp1a UTSW 11 70,983,069 (GRCm39) missense probably benign
Z1191:Nlrp1a UTSW 11 71,033,355 (GRCm39) critical splice acceptor site probably null
Z1191:Nlrp1a UTSW 11 71,014,914 (GRCm39) missense probably benign
Z1192:Nlrp1a UTSW 11 70,990,442 (GRCm39) missense probably benign
Z1192:Nlrp1a UTSW 11 70,988,077 (GRCm39) missense probably damaging 0.96
Z1192:Nlrp1a UTSW 11 70,983,069 (GRCm39) missense probably benign
Z1192:Nlrp1a UTSW 11 71,033,355 (GRCm39) critical splice acceptor site probably null
Z1192:Nlrp1a UTSW 11 71,014,914 (GRCm39) missense probably benign
Predicted Primers
Posted On 2013-08-08