Incidental Mutation 'R7268:Nlrp1a'
ID 565093
Institutional Source Beutler Lab
Gene Symbol Nlrp1a
Ensembl Gene ENSMUSG00000069830
Gene Name NLR family, pyrin domain containing 1A
Synonyms Nalp1
MMRRC Submission 045319-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R7268 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70983062-71035530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71015068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 61 (V61I)
Ref Sequence ENSEMBL: ENSMUSP00000038186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048514] [ENSMUST00000108518]
AlphaFold Q2LKU9
Predicted Effect probably benign
Transcript: ENSMUST00000048514
AA Change: V61I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: V61I

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: V61I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830
AA Change: V61I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (72/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T C 1: 156,461,509 (GRCm39) probably null Het
Acsf3 A G 8: 123,517,401 (GRCm39) Y399C probably benign Het
Acsm5 A T 7: 119,136,511 (GRCm39) T361S probably benign Het
Agap1 T G 1: 89,694,070 (GRCm39) I456S probably benign Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Alb T A 5: 90,610,575 (GRCm39) S52T probably benign Het
Ankle1 A G 8: 71,860,189 (GRCm39) T256A probably damaging Het
Armt1 G A 10: 4,400,855 (GRCm39) V201M possibly damaging Het
Atp2a2 T C 5: 122,605,792 (GRCm39) T388A probably benign Het
Atp6v0a2 T C 5: 124,796,930 (GRCm39) L770P probably damaging Het
B4galnt3 A T 6: 120,192,003 (GRCm39) W578R possibly damaging Het
Babam2 T C 5: 31,859,197 (GRCm39) S2P probably damaging Het
Baz2a A G 10: 127,960,090 (GRCm39) H1459R possibly damaging Het
Bbs7 C T 3: 36,658,575 (GRCm39) R233Q probably benign Het
Cacna2d1 G A 5: 16,575,586 (GRCm39) G1076R probably damaging Het
Camsap2 C T 1: 136,201,483 (GRCm39) probably null Het
Car10 A G 11: 93,490,077 (GRCm39) N273D probably benign Het
Ccdc66 T C 14: 27,208,880 (GRCm39) D458G probably benign Het
Ccdc7a T A 8: 129,607,633 (GRCm39) H982L possibly damaging Het
Col9a1 A G 1: 24,246,479 (GRCm39) K386E possibly damaging Het
Ctcfl A G 2: 172,949,588 (GRCm39) I415T probably benign Het
Cyp3a16 G C 5: 145,404,280 (GRCm39) Y54* probably null Het
Dact2 T C 17: 14,416,797 (GRCm39) T468A probably benign Het
Dgkb T A 12: 38,197,554 (GRCm39) L355* probably null Het
Dhx40 A T 11: 86,697,442 (GRCm39) C42S possibly damaging Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dop1a G T 9: 86,394,830 (GRCm39) E637* probably null Het
Dpp4 G T 2: 62,178,186 (GRCm39) P649T probably damaging Het
Eri3 T A 4: 117,506,580 (GRCm39) I303K probably benign Het
Foxi1 A T 11: 34,155,783 (GRCm39) Y282* probably null Het
Gdi2 T A 13: 3,606,363 (GRCm39) Y146* probably null Het
Gns A G 10: 121,212,557 (GRCm39) Y173C probably damaging Het
Gpc1 C A 1: 92,786,093 (GRCm39) P494Q possibly damaging Het
Habp2 G T 19: 56,302,518 (GRCm39) G274V probably damaging Het
Hcfc2 T A 10: 82,544,846 (GRCm39) Y159* probably null Het
Hmcn2 T A 2: 31,347,978 (GRCm39) S4875T possibly damaging Het
Hmgcs2 A G 3: 98,204,796 (GRCm39) N318S probably benign Het
Lnpep A T 17: 17,758,803 (GRCm39) M847K probably benign Het
Mmp16 A C 4: 18,093,366 (GRCm39) M374L probably benign Het
Mrpl38 A G 11: 116,029,396 (GRCm39) I40T possibly damaging Het
Ncstn T C 1: 171,908,830 (GRCm39) T46A possibly damaging Het
Npas2 G T 1: 39,326,658 (GRCm39) V48L probably damaging Het
Or13p5 A G 4: 118,592,605 (GRCm39) Y293C probably damaging Het
Or52ac1 G A 7: 104,246,284 (GRCm39) L35F probably benign Het
Or6c6 C T 10: 129,187,263 (GRCm39) T277I possibly damaging Het
Pcyox1 A T 6: 86,368,713 (GRCm39) N268K possibly damaging Het
Pramel14 A T 4: 143,720,090 (GRCm39) probably null Het
Prr27 T C 5: 87,991,135 (GRCm39) L249P probably damaging Het
Psat1 A T 19: 15,894,508 (GRCm39) V168D probably damaging Het
Psg17 G T 7: 18,548,586 (GRCm39) T395K possibly damaging Het
Ptgis A G 2: 167,048,676 (GRCm39) Y447H probably benign Het
Rad50 T A 11: 53,575,102 (GRCm39) N607I probably benign Het
Rps6ka2 T C 17: 7,562,662 (GRCm39) Y602H possibly damaging Het
Senp6 G A 9: 80,049,406 (GRCm39) R1010H probably damaging Het
Slc8a3 C A 12: 81,361,827 (GRCm39) D331Y probably damaging Het
Slc9c1 G A 16: 45,370,479 (GRCm39) S240N probably damaging Het
Slf1 A G 13: 77,214,826 (GRCm39) L620P probably damaging Het
Snx19 A G 9: 30,351,473 (GRCm39) E847G probably damaging Het
Spaca6 T C 17: 18,052,369 (GRCm39) V103A probably benign Het
Tbk1 A G 10: 121,388,404 (GRCm39) Y591H probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tfap2a G A 13: 40,882,236 (GRCm39) T15I possibly damaging Het
Tgm2 G A 2: 157,962,188 (GRCm39) R544* probably null Het
Tmem116 T A 5: 121,605,918 (GRCm39) I90K Het
Tmem30c A C 16: 57,086,777 (GRCm39) L342R probably damaging Het
Trpm6 C T 19: 18,755,949 (GRCm39) T64I probably benign Het
Ttll8 A G 15: 88,819,159 (GRCm39) probably null Het
Vcpip1 A G 1: 9,816,307 (GRCm39) I692T probably damaging Het
Vmn1r169 T G 7: 23,276,853 (GRCm39) F82V probably benign Het
Vmn1r178 G A 7: 23,593,378 (GRCm39) C142Y probably benign Het
Vmn2r16 T A 5: 109,488,331 (GRCm39) Y401* probably null Het
Wdr91 A G 6: 34,869,375 (GRCm39) V383A 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
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
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
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'- CTGAGTACCTAAGTTTGGGCC -3'
(R):5'- ATGCTCACAGACTGTATGATGTAC -3'

Sequencing Primer
(F):5'- GGGCCAAATAAATCTTGGATGTC -3'
(R):5'- TGATGTACAGTTTAGACAGATG -3'
Posted On 2019-06-26