Incidental Mutation 'R8073:Nlrp9a'
ID 620342
Institutional Source Beutler Lab
Gene Symbol Nlrp9a
Ensembl Gene ENSMUSG00000054102
Gene Name NLR family, pyrin domain containing 9A
Synonyms Nalp9a, Nalp-theta, D7Ertd565e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R8073 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 26234448-26273573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26260260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 672 (L672M)
Ref Sequence ENSEMBL: ENSMUSP00000104024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071780] [ENSMUST00000108387] [ENSMUST00000117252] [ENSMUST00000122040] [ENSMUST00000153452]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000071780
SMART Domains Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102

DomainStartEndE-ValueType
PYRIN 5 87 1.07e-25 SMART
Pfam:NACHT 143 311 1e-32 PFAM
LRR 637 664 1.42e0 SMART
LRR 693 720 2.32e-1 SMART
LRR 722 749 3e0 SMART
LRR 750 777 1.12e-3 SMART
LRR 779 806 2.17e0 SMART
LRR 807 834 2.27e-4 SMART
LRR 836 863 2.02e2 SMART
LRR 864 891 6.24e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108387
AA Change: L672M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: L672M

DomainStartEndE-ValueType
PYRIN 5 87 1.07e-25 SMART
Pfam:NACHT 143 311 7.7e-33 PFAM
LRR 631 658 1.42e0 SMART
LRR 692 719 1.42e0 SMART
LRR 748 775 2.32e-1 SMART
LRR 777 804 3e0 SMART
LRR 805 832 1.12e-3 SMART
LRR 834 861 2.17e0 SMART
LRR 862 889 2.27e-4 SMART
LRR 891 918 2.02e2 SMART
LRR 919 946 6.24e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117252
SMART Domains Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102

DomainStartEndE-ValueType
PYRIN 5 87 1.07e-25 SMART
Pfam:NACHT 143 311 8.8e-34 PFAM
LRR 637 664 1.42e0 SMART
Blast:LRR 666 692 1e-5 BLAST
LRR 693 720 2.32e-1 SMART
LRR 722 749 3e0 SMART
LRR 750 777 1.12e-3 SMART
LRR 779 806 2.39e0 SMART
LRR 807 834 6.24e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122040
SMART Domains Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102

DomainStartEndE-ValueType
PYRIN 5 87 1.07e-25 SMART
Pfam:NACHT 143 311 1e-32 PFAM
LRR 637 664 1.42e0 SMART
LRR 693 720 2.32e-1 SMART
LRR 722 749 3e0 SMART
LRR 750 777 1.12e-3 SMART
LRR 779 806 2.17e0 SMART
LRR 807 834 2.27e-4 SMART
LRR 836 863 2.02e2 SMART
LRR 864 891 6.24e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000153452
AA Change: L583M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: L583M

DomainStartEndE-ValueType
Pfam:NACHT 54 222 6.9e-33 PFAM
LRR 542 569 1.42e0 SMART
LRR 603 630 1.42e0 SMART
Blast:LRR 632 657 1e-5 BLAST
LRR 659 686 2.32e-1 SMART
LRR 688 715 3e0 SMART
LRR 716 743 1.12e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,337,019 (GRCm39) V533I probably benign Het
Akap3 A T 6: 126,842,736 (GRCm39) T452S probably damaging Het
Angpt1 C T 15: 42,301,699 (GRCm39) M436I probably benign Het
B3galt4 T C 17: 34,169,797 (GRCm39) K147R probably damaging Het
Birc6 C A 17: 74,910,080 (GRCm39) T1491K probably damaging Het
Boll T C 1: 55,394,881 (GRCm39) probably benign Het
C6 T C 15: 4,764,675 (GRCm39) F124L probably benign Het
Camta1 T C 4: 151,163,281 (GRCm39) Y436C probably damaging Het
Celsr1 T C 15: 85,823,356 (GRCm39) N1684S probably benign Het
Cflar T C 1: 58,791,981 (GRCm39) L428P Het
Clk4 T C 11: 51,168,716 (GRCm39) I363T probably benign Het
Cnst A G 1: 179,434,002 (GRCm39) T273A probably benign Het
Col5a1 C T 2: 27,852,141 (GRCm39) A546V possibly damaging Het
Col6a6 T A 9: 105,659,146 (GRCm39) N600Y probably benign Het
Cxadr A G 16: 78,130,301 (GRCm39) N156S probably benign Het
Diaph1 C T 18: 38,024,850 (GRCm39) G537E unknown Het
Dmxl1 T A 18: 50,011,500 (GRCm39) V1219D probably damaging Het
Dnajb12 T A 10: 59,726,001 (GRCm39) Y95* probably null Het
Dnajc5g A G 5: 31,269,029 (GRCm39) T137A probably benign Het
Dpy19l3 G A 7: 35,429,173 (GRCm39) T89M probably damaging Het
Dusp19 C A 2: 80,447,828 (GRCm39) T34N probably benign Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Enpp1 A G 10: 24,555,142 (GRCm39) V68A possibly damaging Het
Epha7 T A 4: 28,821,022 (GRCm39) D62E probably damaging Het
Frmd4b A T 6: 97,283,674 (GRCm39) V445E probably benign Het
Gp9 A C 6: 87,756,336 (GRCm39) D117A probably benign Het
Haao T C 17: 84,142,649 (GRCm39) E152G possibly damaging Het
Ift70a2 A G 2: 75,806,997 (GRCm39) V505A probably damaging Het
Ighd A G 12: 113,379,789 (GRCm39) S52P probably benign Het
Ikzf3 T C 11: 98,358,255 (GRCm39) K361E probably benign Het
Lgi2 T A 5: 52,704,013 (GRCm39) E206V probably benign Het
Mfsd11 T A 11: 116,754,749 (GRCm39) V220E probably benign Het
Moxd1 G T 10: 24,128,848 (GRCm39) G200C probably damaging Het
Mthfd1l C A 10: 3,923,417 (GRCm39) Q55K probably benign Het
Npvf A C 6: 50,631,349 (GRCm39) F9V probably damaging Het
Nup205 G T 6: 35,179,104 (GRCm39) probably null Het
Nup43 T C 10: 7,546,713 (GRCm39) V111A probably benign Het
Obscn C T 11: 59,026,516 (GRCm39) R229H probably benign Het
Olfml2a C A 2: 38,847,766 (GRCm39) R442S probably damaging Het
Or10j2 A G 1: 173,098,552 (GRCm39) D270G probably benign Het
Or2ag16 C A 7: 106,352,008 (GRCm39) E196* probably null Het
Or4c120 T A 2: 89,001,284 (GRCm39) I91F probably damaging Het
Or5b12b T A 19: 12,861,980 (GRCm39) V245E probably benign Het
Or9s13 T A 1: 92,547,806 (GRCm39) D59E probably damaging Het
Pcdhga7 T C 18: 37,848,398 (GRCm39) F135S probably damaging Het
Pde4a A T 9: 21,122,065 (GRCm39) I654F probably damaging Het
Pip5kl1 G A 2: 32,473,440 (GRCm39) R359Q possibly damaging Het
Ppp2ca T C 11: 52,010,124 (GRCm39) V244A possibly damaging Het
Qrich1 T A 9: 108,411,627 (GRCm39) L384H possibly damaging Het
Rab4a T C 8: 124,554,135 (GRCm39) V62A possibly damaging Het
Ranbp10 A G 8: 106,513,261 (GRCm39) L217P probably damaging Het
Rhebl1 C T 15: 98,776,405 (GRCm39) A131T probably benign Het
Rnf150 A T 8: 83,590,546 (GRCm39) probably benign Het
Slc32a1 G A 2: 158,456,685 (GRCm39) A447T probably damaging Het
Spag5 T A 11: 78,192,803 (GRCm39) M45K probably benign Het
Spata13 A G 14: 60,928,705 (GRCm39) N88D probably damaging Het
Spred2 C A 11: 19,958,422 (GRCm39) T128N probably benign Het
Tenm2 T C 11: 36,030,471 (GRCm39) E776G possibly damaging Het
Tet1 C G 10: 62,649,132 (GRCm39) E156Q probably damaging Het
Tmc1 T C 19: 20,845,725 (GRCm39) N166S probably benign Het
Trim43a C A 9: 88,464,490 (GRCm39) Q134K possibly damaging Het
Tsks A T 7: 44,607,305 (GRCm39) M543L probably benign Het
Ttn T C 2: 76,574,181 (GRCm39) K25571E probably damaging Het
Vamp5 C A 6: 72,357,436 (GRCm39) probably benign Het
Vmn2r79 A T 7: 86,651,462 (GRCm39) Q287L probably benign Het
Zfp326 T A 5: 106,062,682 (GRCm39) V517E unknown Het
Zfp467 A T 6: 48,414,959 (GRCm39) H564Q probably damaging Het
Zfp51 G A 17: 21,684,294 (GRCm39) C303Y probably damaging Het
Other mutations in Nlrp9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00659:Nlrp9a APN 7 26,257,050 (GRCm39) missense probably benign 0.22
IGL00895:Nlrp9a APN 7 26,258,103 (GRCm39) missense probably benign
IGL01081:Nlrp9a APN 7 26,257,519 (GRCm39) missense possibly damaging 0.51
IGL01148:Nlrp9a APN 7 26,257,006 (GRCm39) missense probably damaging 1.00
IGL01368:Nlrp9a APN 7 26,257,299 (GRCm39) missense probably damaging 1.00
IGL01914:Nlrp9a APN 7 26,256,689 (GRCm39) missense probably benign 0.01
IGL01952:Nlrp9a APN 7 26,257,444 (GRCm39) missense probably benign 0.01
IGL02245:Nlrp9a APN 7 26,257,318 (GRCm39) missense probably benign 0.02
IGL02449:Nlrp9a APN 7 26,264,396 (GRCm39) missense probably benign 0.00
IGL02702:Nlrp9a APN 7 26,264,381 (GRCm39) missense possibly damaging 0.67
IGL02944:Nlrp9a APN 7 26,258,076 (GRCm39) missense probably benign 0.28
IGL03183:Nlrp9a APN 7 26,256,882 (GRCm39) missense probably damaging 1.00
R0005:Nlrp9a UTSW 7 26,273,213 (GRCm39) splice site probably benign
R0007:Nlrp9a UTSW 7 26,250,515 (GRCm39) intron probably benign
R0007:Nlrp9a UTSW 7 26,250,515 (GRCm39) intron probably benign
R0013:Nlrp9a UTSW 7 26,270,650 (GRCm39) splice site probably null
R0086:Nlrp9a UTSW 7 26,257,972 (GRCm39) missense probably damaging 0.98
R0659:Nlrp9a UTSW 7 26,256,703 (GRCm39) missense probably damaging 1.00
R1126:Nlrp9a UTSW 7 26,260,166 (GRCm39) missense probably benign 0.12
R1500:Nlrp9a UTSW 7 26,267,316 (GRCm39) missense probably benign 0.01
R1585:Nlrp9a UTSW 7 26,258,093 (GRCm39) missense probably benign 0.41
R1594:Nlrp9a UTSW 7 26,269,932 (GRCm39) nonsense probably null
R1968:Nlrp9a UTSW 7 26,264,366 (GRCm39) missense probably benign 0.23
R1989:Nlrp9a UTSW 7 26,273,338 (GRCm39) missense probably benign 0.24
R2057:Nlrp9a UTSW 7 26,256,787 (GRCm39) missense possibly damaging 0.55
R2058:Nlrp9a UTSW 7 26,256,787 (GRCm39) missense possibly damaging 0.55
R2059:Nlrp9a UTSW 7 26,256,787 (GRCm39) missense possibly damaging 0.55
R2188:Nlrp9a UTSW 7 26,264,354 (GRCm39) missense probably damaging 1.00
R2318:Nlrp9a UTSW 7 26,273,277 (GRCm39) missense probably damaging 0.98
R3110:Nlrp9a UTSW 7 26,257,297 (GRCm39) missense probably benign 0.08
R3112:Nlrp9a UTSW 7 26,257,297 (GRCm39) missense probably benign 0.08
R3237:Nlrp9a UTSW 7 26,270,810 (GRCm39) nonsense probably null
R3545:Nlrp9a UTSW 7 26,256,757 (GRCm39) missense probably benign 0.03
R3805:Nlrp9a UTSW 7 26,264,277 (GRCm39) nonsense probably null
R4005:Nlrp9a UTSW 7 26,257,975 (GRCm39) missense probably benign 0.02
R4057:Nlrp9a UTSW 7 26,270,071 (GRCm39) missense probably benign 0.00
R4529:Nlrp9a UTSW 7 26,270,832 (GRCm39) missense probably damaging 1.00
R4756:Nlrp9a UTSW 7 26,256,866 (GRCm39) missense probably damaging 1.00
R4908:Nlrp9a UTSW 7 26,250,369 (GRCm39) missense probably damaging 1.00
R4972:Nlrp9a UTSW 7 26,269,964 (GRCm39) missense probably damaging 1.00
R4992:Nlrp9a UTSW 7 26,256,811 (GRCm39) missense probably benign 0.00
R5042:Nlrp9a UTSW 7 26,270,703 (GRCm39) missense probably damaging 1.00
R5224:Nlrp9a UTSW 7 26,256,717 (GRCm39) missense probably benign 0.43
R5449:Nlrp9a UTSW 7 26,257,254 (GRCm39) missense probably benign 0.04
R5644:Nlrp9a UTSW 7 26,257,993 (GRCm39) missense possibly damaging 0.51
R5734:Nlrp9a UTSW 7 26,270,065 (GRCm39) missense probably damaging 1.00
R5905:Nlrp9a UTSW 7 26,257,762 (GRCm39) missense probably benign 0.02
R5978:Nlrp9a UTSW 7 26,256,703 (GRCm39) missense probably damaging 1.00
R6028:Nlrp9a UTSW 7 26,257,762 (GRCm39) missense probably benign 0.02
R6066:Nlrp9a UTSW 7 26,257,510 (GRCm39) missense probably benign 0.00
R6082:Nlrp9a UTSW 7 26,267,402 (GRCm39) missense probably benign 0.41
R6171:Nlrp9a UTSW 7 26,258,188 (GRCm39) missense possibly damaging 0.71
R6352:Nlrp9a UTSW 7 26,257,051 (GRCm39) missense probably damaging 1.00
R6490:Nlrp9a UTSW 7 26,250,311 (GRCm39) missense probably damaging 1.00
R6540:Nlrp9a UTSW 7 26,256,817 (GRCm39) missense possibly damaging 0.88
R7039:Nlrp9a UTSW 7 26,267,367 (GRCm39) missense probably benign 0.03
R7151:Nlrp9a UTSW 7 26,256,672 (GRCm39) nonsense probably null
R7173:Nlrp9a UTSW 7 26,257,603 (GRCm39) missense probably benign 0.00
R7214:Nlrp9a UTSW 7 26,250,463 (GRCm39) missense probably damaging 0.98
R7226:Nlrp9a UTSW 7 26,258,149 (GRCm39) missense probably benign 0.02
R7250:Nlrp9a UTSW 7 26,258,143 (GRCm39) missense possibly damaging 0.78
R7293:Nlrp9a UTSW 7 26,270,694 (GRCm39) missense probably damaging 1.00
R7492:Nlrp9a UTSW 7 26,257,081 (GRCm39) missense probably damaging 0.99
R7586:Nlrp9a UTSW 7 26,256,721 (GRCm39) missense possibly damaging 0.83
R7844:Nlrp9a UTSW 7 26,262,006 (GRCm39) missense possibly damaging 0.82
R8136:Nlrp9a UTSW 7 26,256,678 (GRCm39) missense probably benign 0.34
R8400:Nlrp9a UTSW 7 26,264,431 (GRCm39) missense probably benign 0.02
R8415:Nlrp9a UTSW 7 26,256,925 (GRCm39) missense probably benign
R8774:Nlrp9a UTSW 7 26,257,984 (GRCm39) missense possibly damaging 0.95
R8774-TAIL:Nlrp9a UTSW 7 26,257,984 (GRCm39) missense possibly damaging 0.95
R8882:Nlrp9a UTSW 7 26,257,703 (GRCm39) nonsense probably null
R9023:Nlrp9a UTSW 7 26,273,291 (GRCm39) missense possibly damaging 0.62
R9031:Nlrp9a UTSW 7 26,257,698 (GRCm39) missense probably damaging 1.00
R9063:Nlrp9a UTSW 7 26,273,291 (GRCm39) missense possibly damaging 0.62
R9090:Nlrp9a UTSW 7 26,261,944 (GRCm39) missense probably benign
R9196:Nlrp9a UTSW 7 26,258,158 (GRCm39) missense probably damaging 1.00
R9206:Nlrp9a UTSW 7 26,257,656 (GRCm39) missense possibly damaging 0.91
R9265:Nlrp9a UTSW 7 26,258,038 (GRCm39) missense possibly damaging 0.67
R9271:Nlrp9a UTSW 7 26,261,944 (GRCm39) missense probably benign
R9384:Nlrp9a UTSW 7 26,258,158 (GRCm39) missense probably damaging 1.00
R9402:Nlrp9a UTSW 7 26,270,030 (GRCm39) missense possibly damaging 0.81
R9424:Nlrp9a UTSW 7 26,260,178 (GRCm39) missense probably benign 0.13
R9620:Nlrp9a UTSW 7 26,250,469 (GRCm39) missense probably damaging 1.00
R9660:Nlrp9a UTSW 7 26,256,915 (GRCm39) missense probably damaging 1.00
R9696:Nlrp9a UTSW 7 26,275,033 (GRCm39) missense unknown
R9728:Nlrp9a UTSW 7 26,256,915 (GRCm39) missense probably damaging 1.00
R9744:Nlrp9a UTSW 7 26,267,266 (GRCm39) missense probably benign 0.07
R9794:Nlrp9a UTSW 7 26,264,302 (GRCm39) missense probably benign 0.03
Z1176:Nlrp9a UTSW 7 26,257,654 (GRCm39) missense probably damaging 1.00
Z1177:Nlrp9a UTSW 7 26,256,881 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCATTACAGACTTTTAGCCAAGC -3'
(R):5'- CATAGTCAATACCTGCCTAGTATTACC -3'

Sequencing Primer
(F):5'- GCATTGGACTACGTTATGCAC -3'
(R):5'- ATACCTGCCTAGTATTACCTTAGTG -3'
Posted On 2020-01-23