Incidental Mutation 'R3801:Nlrp1a'
ID 272994
Institutional Source Beutler Lab
Gene Symbol Nlrp1a
Ensembl Gene ENSMUSG00000069830
Gene Name NLR family, pyrin domain containing 1A
Synonyms Nalp1
MMRRC Submission 040760-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R3801 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 70983062-71035530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71013529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 574 (M574L)
Ref Sequence ENSEMBL: ENSMUSP00000104158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048514] [ENSMUST00000108518]
AlphaFold Q2LKU9
Predicted Effect probably benign
Transcript: ENSMUST00000048514
AA Change: M574L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: M574L

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
AA Change: M574L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830
AA Change: M574L

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik C T 8: 79,974,922 (GRCm39) E54K probably benign Het
Als2 A C 1: 59,206,358 (GRCm39) M1634R probably damaging Het
Ankfy1 T C 11: 72,640,246 (GRCm39) S531P probably benign Het
Atp6v1e1 A G 6: 120,778,020 (GRCm39) Y172H probably benign Het
Brd1 C T 15: 88,601,243 (GRCm39) V464M probably damaging Het
Btaf1 A T 19: 36,963,948 (GRCm39) T840S probably benign Het
Btaf1 A T 19: 36,966,373 (GRCm39) H1047L probably benign Het
Cacnb2 A G 2: 14,829,074 (GRCm39) D3G possibly damaging Het
Capn13 G A 17: 73,646,396 (GRCm39) P339L probably benign Het
Cgrrf1 G T 14: 47,069,820 (GRCm39) G30C probably damaging Het
Crnkl1 T C 2: 145,761,715 (GRCm39) D614G probably benign Het
Cyp2c23 C T 19: 43,995,478 (GRCm39) V430I probably benign Het
Dazl G A 17: 50,588,309 (GRCm39) R289W probably benign Het
Dsg1b C T 18: 20,523,260 (GRCm39) P96S probably damaging Het
Dusp14 A G 11: 83,939,535 (GRCm39) S169P possibly damaging Het
Egfem1 A G 3: 29,206,075 (GRCm39) D91G probably benign Het
Eif1 A G 11: 100,211,650 (GRCm39) K95E probably damaging Het
Fap C T 2: 62,376,994 (GRCm39) V191I probably benign Het
Flnc T C 6: 29,447,403 (GRCm39) Y1069H probably damaging Het
Fndc7 T C 3: 108,776,464 (GRCm39) T526A possibly damaging Het
Fras1 A T 5: 96,881,791 (GRCm39) T2508S probably benign Het
Gast T C 11: 100,227,636 (GRCm39) S73P probably damaging Het
Grap2 A G 15: 80,507,947 (GRCm39) T4A possibly damaging Het
Grm8 T G 6: 28,125,635 (GRCm39) N164H possibly damaging Het
Hyal5 A T 6: 24,876,523 (GRCm39) H132L probably benign Het
Iqcm C A 8: 76,396,021 (GRCm39) T188K possibly damaging Het
Kank4 A G 4: 98,668,370 (GRCm39) S26P probably damaging Het
Lipo3 C T 19: 33,762,257 (GRCm39) C80Y probably damaging Het
Lrrk2 A G 15: 91,621,314 (GRCm39) R963G probably benign Het
Lrtm2 G A 6: 119,294,444 (GRCm39) T229I probably damaging Het
Mb21d2 A T 16: 28,646,755 (GRCm39) D406E possibly damaging Het
Meikin T A 11: 54,290,697 (GRCm39) probably null Het
Mybl1 A T 1: 9,743,439 (GRCm39) F538I probably damaging Het
Nectin2 T C 7: 19,451,561 (GRCm39) D491G probably benign Het
Nf1 A G 11: 79,450,347 (GRCm39) D511G probably null Het
Nid2 T C 14: 19,860,065 (GRCm39) C1328R probably damaging Het
Nrap C T 19: 56,310,211 (GRCm39) D1595N probably damaging Het
Nrg3 G A 14: 38,098,391 (GRCm39) P496S probably damaging Het
Or4k41 A T 2: 111,279,910 (GRCm39) I142F probably benign Het
Pak3 G A X: 142,492,727 (GRCm39) V87I probably damaging Het
Phf8 T C X: 150,355,572 (GRCm39) S512P possibly damaging Het
Phkb G T 8: 86,648,858 (GRCm39) E225* probably null Het
Plaa T C 4: 94,458,125 (GRCm39) D615G probably damaging Het
Prdm12 A G 2: 31,541,959 (GRCm39) K223E probably damaging Het
Prkd1 C A 12: 50,430,205 (GRCm39) R634L possibly damaging Het
Rassf3 T A 10: 121,250,271 (GRCm39) I181F possibly damaging Het
Samd8 G A 14: 21,825,133 (GRCm39) V30M probably damaging Het
Sema4f A T 6: 82,895,608 (GRCm39) H308Q possibly damaging Het
Skint4 G T 4: 111,975,378 (GRCm39) V113L probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slpi A G 2: 164,198,158 (GRCm39) L12P probably damaging Het
Smco1 A G 16: 32,092,716 (GRCm39) Y129C probably benign Het
Spag17 A G 3: 99,961,169 (GRCm39) K985R possibly damaging Het
Stc1 T C 14: 69,275,924 (GRCm39) I239T probably benign Het
Suclg2 A T 6: 95,474,649 (GRCm39) I372N probably damaging Het
Tmed4 C A 11: 6,224,233 (GRCm39) V80F probably damaging Het
Tnpo2 T A 8: 85,781,800 (GRCm39) probably null Het
Top1 A G 2: 160,544,688 (GRCm39) H268R probably damaging Het
Triobp A T 15: 78,857,900 (GRCm39) Q1167L probably benign Het
Txndc16 G A 14: 45,388,809 (GRCm39) P536L possibly damaging Het
Usp13 C T 3: 32,935,657 (GRCm39) A360V possibly damaging Het
Vhl G A 6: 113,606,423 (GRCm39) V147I probably benign Het
Vldlr A T 19: 27,195,021 (GRCm39) T3S probably damaging Het
Vps54 T A 11: 21,218,832 (GRCm39) D130E probably benign Het
Zfp808 T A 13: 62,319,897 (GRCm39) H375Q probably damaging Het
Zfp87 A T 13: 67,669,334 (GRCm39) N37K probably damaging 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
R0360:Nlrp1a UTSW 11 71,004,830 (GRCm39) intron probably benign
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 71,013,573 (GRCm39) missense possibly damaging 0.87
R1826:Nlrp1a UTSW 11 70,998,806 (GRCm39) intron probably benign
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
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 PCR Primer
(F):5'- TGTGGGATCATGGGATTCACAG -3'
(R):5'- GCCTTCATGGAAAGACAAAGTTG -3'

Sequencing Primer
(F):5'- TGGGATCATGGGATTCACAGATAATC -3'
(R):5'- TGGCACATCCTAGGGAAATCC -3'
Posted On 2015-03-25