Incidental Mutation 'R9794:Nlrp9a'
ID 734815
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 # R9794 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 26234448-26273573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26264302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 741 (I741V)
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
AA Change: I686V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: I686V

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: I741V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: I741V

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
AA Change: I686V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: I686V

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
AA Change: I686V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: I686V

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: I652V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: I652V

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,395,038 (GRCm39) I39L possibly damaging Het
Acacb T C 5: 114,387,578 (GRCm39) V2415A probably benign Het
Adgrg6 C A 10: 14,314,196 (GRCm39) G669C probably damaging Het
Ahcyl A G 16: 45,974,342 (GRCm39) V345A probably benign Het
Arhgdib A G 6: 136,906,608 (GRCm39) probably null Het
Arhgef18 G A 8: 3,501,634 (GRCm39) V643I probably benign Het
Aspm T A 1: 139,406,480 (GRCm39) I1789N probably damaging Het
Atm C T 9: 53,429,867 (GRCm39) V390I probably benign Het
AW554918 A G 18: 25,337,031 (GRCm39) E148G probably damaging Het
Bmal2 T A 6: 146,734,033 (GRCm39) D543E probably benign Het
Camk2a T C 18: 61,097,031 (GRCm39) V327A probably benign Het
Celsr3 T C 9: 108,728,502 (GRCm39) V3302A probably benign Het
Ces2a G A 8: 105,467,896 (GRCm39) V509M probably benign Het
Cpa5 T C 6: 30,625,920 (GRCm39) probably null Het
Cplx3 A T 9: 57,509,522 (GRCm39) *159R probably null Het
Cyp2b23 A T 7: 26,381,121 (GRCm39) Y79N probably benign Het
Dapk1 A G 13: 60,909,082 (GRCm39) T1232A probably damaging Het
Dsg3 A T 18: 20,673,154 (GRCm39) T942S probably benign Het
Efnb3 G A 11: 69,448,232 (GRCm39) P70L probably damaging Het
Eln G T 5: 134,751,352 (GRCm39) Y280* probably null Het
Epha8 G T 4: 136,666,035 (GRCm39) H374N probably benign Het
Erbin A T 13: 103,971,359 (GRCm39) D752E probably benign Het
Fam149a A G 8: 45,834,449 (GRCm39) S117P possibly damaging Het
Fchsd2 G A 7: 100,893,410 (GRCm39) C304Y probably benign Het
Galnt6 C A 15: 100,595,859 (GRCm39) V390L probably damaging Het
Grk3 T C 5: 113,121,448 (GRCm39) probably null Het
Il17rc A T 6: 113,453,726 (GRCm39) T237S probably benign Het
Inpp5b A G 4: 124,687,174 (GRCm39) D800G probably damaging Het
Itga11 A G 9: 62,662,868 (GRCm39) N528S probably benign Het
Kif19b T A 5: 140,448,070 (GRCm39) probably null Het
Lancl2 T A 6: 57,714,708 (GRCm39) F442L probably benign Het
Ldah G T 12: 8,318,430 (GRCm39) A180S possibly damaging Het
Lingo1 T C 9: 56,528,592 (GRCm39) E5G probably benign Het
Lingo3 T C 10: 80,670,707 (GRCm39) I408V possibly damaging Het
Liph A T 16: 21,774,862 (GRCm39) L445Q probably damaging Het
Lonrf1 A G 8: 36,703,235 (GRCm39) Y314H probably damaging Het
Lrit3 A T 3: 129,594,073 (GRCm39) L168Q probably damaging Het
Mideas T A 12: 84,220,576 (GRCm39) Q126L probably damaging Het
Mylk4 G T 13: 32,899,950 (GRCm39) T312K probably damaging Het
Myzap A T 9: 71,487,082 (GRCm39) M15K probably benign Het
Ngf G A 3: 102,428,132 (GRCm39) V298M probably damaging Het
Nrxn2 T C 19: 6,567,064 (GRCm39) V1313A possibly damaging Het
Nuf2 C T 1: 169,334,954 (GRCm39) probably null Het
Or13a27 G A 7: 139,925,483 (GRCm39) Q140* probably null Het
Or5m8 A G 2: 85,822,464 (GRCm39) Y101C probably benign Het
Pcdh17 C T 14: 84,770,350 (GRCm39) R943* probably null Het
Phykpl A T 11: 51,489,212 (GRCm39) H346L probably benign Het
Plk4 C A 3: 40,759,535 (GRCm39) L144I probably damaging Het
Pole C A 5: 110,466,201 (GRCm39) P1301Q probably benign Het
Prkch T A 12: 73,744,744 (GRCm39) N252K possibly damaging Het
Psen2 A T 1: 180,068,294 (GRCm39) probably null Het
Ptgds C A 2: 25,359,129 (GRCm39) R42L probably benign Het
Ptprz1 A G 6: 23,000,204 (GRCm39) T765A probably benign Het
Rab6b T C 9: 103,041,061 (GRCm39) F152L possibly damaging Het
Rbm12b2 T A 4: 12,095,335 (GRCm39) F731L probably damaging Het
Resf1 T A 6: 149,228,239 (GRCm39) Y428* probably null Het
Rnf32 T C 5: 29,429,125 (GRCm39) I234T probably damaging Het
Scart2 G A 7: 139,874,716 (GRCm39) G398D probably damaging Het
Scn8a T A 15: 100,933,332 (GRCm39) I1512N probably benign Het
Senp6 T A 9: 79,999,590 (GRCm39) D81E probably benign Het
Slc26a7 T G 4: 14,590,416 (GRCm39) N125T possibly damaging Het
Sptlc1 A T 13: 53,512,803 (GRCm39) I185N possibly damaging Het
Syne2 C A 12: 76,047,617 (GRCm39) H4013N probably benign Het
Tbc1d9b T C 11: 50,062,005 (GRCm39) V1171A probably benign Het
Tmem63b T C 17: 45,977,252 (GRCm39) N417S probably benign Het
Ttn A G 2: 76,706,193 (GRCm39) V9176A unknown Het
Vmn1r210 T C 13: 23,011,432 (GRCm39) I285V probably damaging Het
Wbp11 C T 6: 136,795,021 (GRCm39) V308I possibly damaging Het
Wnk2 A C 13: 49,229,674 (GRCm39) V950G probably benign Het
Zfp110 A G 7: 12,578,521 (GRCm39) N144S 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
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
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'- GGCTTATTCCCAATCAGTAGAACTC -3'
(R):5'- ATTCTGCAACACCTCCAGG -3'

Sequencing Primer
(F):5'- CTGGGGCATTTGTCTAAG -3'
(R):5'- GGGCATGCTCTCCTAGAATAACTC -3'
Posted On 2022-11-14