Incidental Mutation 'R9424:Nlrp9a'
ID 712494
Institutional Source Beutler Lab
Gene Symbol Nlrp9a
Ensembl Gene ENSMUSG00000054102
Gene Name NLR family, pyrin domain containing 9A
Synonyms Nalp9a, Nalp-theta, D7Ertd565e
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R9424 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 26234448-26273573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 26260178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 644 (F644L)
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 benign
Transcript: ENSMUST00000108387
AA Change: F644L

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: F644L

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 benign
Transcript: ENSMUST00000153452
AA Change: F555L

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: F555L

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: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,947,843 (GRCm39) I580N probably benign Het
Adam9 C A 8: 25,445,953 (GRCm39) V814F probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Ak2 A G 4: 128,896,195 (GRCm39) E120G possibly damaging Het
Akap9 C A 5: 4,012,223 (GRCm39) Y975* probably null Het
Akap9 C T 5: 4,012,224 (GRCm39) Q976* probably null Het
Bpnt1 T C 1: 185,070,335 (GRCm39) M9T possibly damaging Het
C4bp C A 1: 130,584,912 (GRCm39) L41F probably damaging Het
Car3 A T 3: 14,929,450 (GRCm39) I59F Het
Card11 T C 5: 140,894,395 (GRCm39) D78G probably damaging Het
Ccdc125 A G 13: 100,820,876 (GRCm39) D199G possibly damaging Het
Ccdc88c T C 12: 100,911,749 (GRCm39) D695G possibly damaging Het
Cd48 T A 1: 171,532,432 (GRCm39) I237N possibly damaging Het
Cep295 T C 9: 15,244,499 (GRCm39) E1319G probably damaging Het
Col6a4 C A 9: 105,945,271 (GRCm39) A948S probably benign Het
Dcp1b T A 6: 119,196,993 (GRCm39) Y563* probably null Het
Dcp2 C T 18: 44,538,361 (GRCm39) R173C probably damaging Het
Ddx59 T A 1: 136,344,681 (GRCm39) Y117* probably null Het
Dennd2a A T 6: 39,485,294 (GRCm39) Y328* probably null Het
Dhx30 A G 9: 109,916,712 (GRCm39) L601P probably damaging Het
Dip2c A G 13: 9,709,431 (GRCm39) T1424A probably damaging Het
Dlg2 A G 7: 92,080,325 (GRCm39) N733S probably damaging Het
Dnah5 C T 15: 28,272,286 (GRCm39) T1030M probably benign Het
Fgd5 A T 6: 91,956,017 (GRCm39) R3* probably null Het
Gbf1 A T 19: 46,248,122 (GRCm39) T300S probably benign Het
Gm5591 A T 7: 38,219,721 (GRCm39) L384Q probably damaging Het
Grm5 C T 7: 87,765,484 (GRCm39) A904V probably benign Het
Havcr1 T A 11: 46,669,391 (GRCm39) V290E probably benign Het
Hspb7 A G 4: 141,149,241 (GRCm39) D49G possibly damaging Het
Itpr2 A T 6: 146,212,505 (GRCm39) I1537N probably damaging Het
Kalrn T C 16: 33,809,188 (GRCm39) T2567A probably benign Het
Kat8 T C 7: 127,524,100 (GRCm39) L380S probably benign Het
Krt1c T A 15: 101,719,792 (GRCm39) Y626F unknown Het
Lrrk2 T A 15: 91,636,388 (GRCm39) L1454* probably null Het
Mgat4a C A 1: 37,529,436 (GRCm39) V148F probably damaging Het
Mtg1 T A 7: 139,727,212 (GRCm39) Y238* probably null Het
Neb T A 2: 52,041,410 (GRCm39) Q6807L probably benign Het
Pcdhb15 A G 18: 37,607,263 (GRCm39) N165S Het
Pcdhb5 C A 18: 37,454,120 (GRCm39) Q167K probably damaging Het
Per1 T A 11: 68,998,855 (GRCm39) M1142K probably damaging Het
Piezo1 A G 8: 123,218,079 (GRCm39) V1220A Het
Pkd1l1 T C 11: 8,820,091 (GRCm39) T1713A Het
Plec C A 15: 76,115,377 (GRCm39) A66S probably benign Het
Ppfia4 C A 1: 134,247,044 (GRCm39) V559F possibly damaging Het
Ppil6 T C 10: 41,379,024 (GRCm39) S224P probably damaging Het
Ppp2r2d T A 7: 138,475,978 (GRCm39) M262K possibly damaging Het
Prl7d1 A T 13: 27,894,185 (GRCm39) M127K probably benign Het
Rassf9 T A 10: 102,381,577 (GRCm39) C320S probably benign Het
Rbm19 AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 5: 120,278,345 (GRCm39) probably benign Het
Rin3 T A 12: 102,335,589 (GRCm39) L420* probably null Het
Serpina3i A G 12: 104,234,730 (GRCm39) T354A probably benign Het
Serpinb9b A G 13: 33,213,544 (GRCm39) S34G probably damaging Het
Slc19a2 T C 1: 164,076,895 (GRCm39) V25A probably damaging Het
Slc1a2 G A 2: 102,591,394 (GRCm39) E375K probably damaging Het
Slfn9 T A 11: 82,878,211 (GRCm39) Y306F possibly damaging Het
Sparcl1 A T 5: 104,241,030 (GRCm39) D131E possibly damaging Het
Srl A T 16: 4,301,031 (GRCm39) L680Q probably damaging Het
Sufu G A 19: 46,474,320 (GRCm39) W465* probably null Het
Szt2 A G 4: 118,248,151 (GRCm39) L691P probably damaging Het
Tbc1d4 A T 14: 101,703,096 (GRCm39) I783N probably damaging Het
Tmem191 C T 16: 17,094,526 (GRCm39) R62* probably null Het
Tmem217 C A 17: 29,745,690 (GRCm39) M13I possibly damaging Het
Triobp T C 15: 78,844,266 (GRCm39) S161P probably damaging Het
Trp53bp2 T C 1: 182,273,864 (GRCm39) V503A possibly damaging Het
Tspoap1 G A 11: 87,652,082 (GRCm39) probably benign Het
Ttn T C 2: 76,582,347 (GRCm39) T22849A probably damaging Het
Ugt2b37 A T 5: 87,402,217 (GRCm39) M138K probably damaging Het
Uimc1 A T 13: 55,223,646 (GRCm39) F209I possibly damaging Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Wdr91 A T 6: 34,861,302 (GRCm39) N633K possibly damaging Het
Zfp618 T C 4: 63,051,282 (GRCm39) S688P probably benign 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
R8073:Nlrp9a UTSW 7 26,260,260 (GRCm39) missense probably damaging 0.98
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
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'- CTGCCAGTTTTGAGAAGGGG -3'
(R):5'- CTTTCAAATATGTGACCCTTGGTAC -3'

Sequencing Primer
(F):5'- CCAGTTTTGAGAAGGGGTTGAGAG -3'
(R):5'- GGGTGGCTATCAAACTTAC -3'
Posted On 2022-05-16