Incidental Mutation 'R7586:Nlrp9a'
ID 587140
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 045668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R7586 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 26234448-26273573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26256721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 113 (N113I)
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 possibly damaging
Transcript: ENSMUST00000071780
AA Change: N113I

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: N113I

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 possibly damaging
Transcript: ENSMUST00000108387
AA Change: N113I

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: N113I

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: N113I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: N113I

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 possibly damaging
Transcript: ENSMUST00000122040
AA Change: N113I

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: N113I

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: N24I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: N24I

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: 98.9%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1a C T 9: 65,409,466 (GRCm39) probably null Het
Ankrd31 A G 13: 96,968,562 (GRCm39) E733G possibly damaging Het
Cars2 C T 8: 11,580,321 (GRCm39) W239* probably null Het
Catsperz A T 19: 6,899,929 (GRCm39) L192* probably null Het
Ccdc168 G A 1: 44,099,173 (GRCm39) R642W probably benign Het
Cdh3 T C 8: 107,237,975 (GRCm39) probably null Het
Cfh C T 1: 140,075,459 (GRCm39) V260M probably damaging Het
Clcn4 T A 7: 7,296,958 (GRCm39) S227C probably benign Het
Cntn3 A T 6: 102,397,388 (GRCm39) W62R probably damaging Het
Col27a1 C A 4: 63,143,278 (GRCm39) A322D probably damaging Het
Egflam C T 15: 7,238,082 (GRCm39) G934S probably damaging Het
Eloa A G 4: 135,734,510 (GRCm39) V665A probably damaging Het
Epg5 A G 18: 78,073,275 (GRCm39) T2433A probably benign Het
Ercc5 A G 1: 44,215,011 (GRCm39) N848S possibly damaging Het
Fbrsl1 A C 5: 110,526,020 (GRCm39) F61V probably damaging Het
Fry T C 5: 150,349,683 (GRCm39) Y1595H probably damaging Het
Fstl4 A G 11: 52,963,256 (GRCm39) N213D probably benign Het
Gab2 C T 7: 96,950,645 (GRCm39) P446L probably damaging Het
Ganab A T 19: 8,888,716 (GRCm39) Y552F possibly damaging Het
Gfy C T 7: 44,826,962 (GRCm39) R378Q probably damaging Het
Gm3285 T C 10: 77,697,875 (GRCm39) V8A unknown Het
Grip1 A T 10: 119,913,043 (GRCm39) probably null Het
Gtf3c3 A G 1: 54,442,752 (GRCm39) L764P probably damaging Het
Igfbp2 A T 1: 72,888,307 (GRCm39) M150L probably benign Het
Jakmip2 C T 18: 43,673,676 (GRCm39) R796Q probably damaging Het
Jpt1 T A 11: 115,389,021 (GRCm39) R141W probably damaging Het
Junb T C 8: 85,704,802 (GRCm39) E86G probably damaging Het
Klhl41 A T 2: 69,505,068 (GRCm39) D457V probably benign Het
Lama2 T C 10: 26,977,389 (GRCm39) Y1930C probably benign Het
Med13 A T 11: 86,161,828 (GRCm39) I2167N probably damaging Het
Msh3 A G 13: 92,485,840 (GRCm39) probably benign Het
Myo1b A C 1: 51,817,483 (GRCm39) I593S probably damaging Het
Myo1c A T 11: 75,548,345 (GRCm39) T16S possibly damaging Het
Ndufaf4 C T 4: 24,901,829 (GRCm39) L126F probably damaging Het
Or5d43 T A 2: 88,104,794 (GRCm39) I200F probably damaging Het
Or5g23 G C 2: 85,438,528 (GRCm39) S242C probably damaging Het
Or5p6 T A 7: 107,631,128 (GRCm39) T141S probably benign Het
Pabpc6 A T 17: 9,887,611 (GRCm39) D313E probably damaging Het
Pcdhb2 G T 18: 37,428,857 (GRCm39) G277* probably null Het
Phkb T G 8: 86,756,226 (GRCm39) V840G probably damaging Het
Pip4k2c A G 10: 127,034,955 (GRCm39) F415S probably damaging Het
Ptprb A G 10: 116,179,779 (GRCm39) E1112G probably damaging Het
Pum2 A G 12: 8,797,206 (GRCm39) D847G probably damaging Het
Qrich2 C T 11: 116,346,450 (GRCm39) R1458H probably benign Het
Rdh11 T C 12: 79,231,957 (GRCm39) Y199C probably damaging Het
Resf1 A T 6: 149,228,291 (GRCm39) N446Y possibly damaging Het
Scamp3 A G 3: 89,087,673 (GRCm39) Y171C probably damaging Het
Serpinb9b T C 13: 33,223,743 (GRCm39) S312P probably damaging Het
Slain2 G A 5: 73,123,165 (GRCm39) S461N probably benign Het
Slc23a1 G A 18: 35,758,891 (GRCm39) T100I probably damaging Het
Spata31d1b T A 13: 59,866,194 (GRCm39) I1114N probably damaging Het
Spinkl A G 18: 44,307,656 (GRCm39) S2P probably damaging Het
Srrt T C 5: 137,300,457 (GRCm39) N173S probably damaging Het
Stk24 C T 14: 121,539,699 (GRCm39) A166T probably damaging Het
Supt16 A T 14: 52,411,013 (GRCm39) V697E probably damaging Het
Taf6l C T 19: 8,761,210 (GRCm39) E53K probably damaging Het
Tmem81 A T 1: 132,435,511 (GRCm39) I106F probably damaging Het
Tnxb C A 17: 34,935,382 (GRCm39) L2561I probably damaging Het
Top3b G A 16: 16,709,232 (GRCm39) R640H probably benign Het
Trpm7 A T 2: 126,652,085 (GRCm39) S1463T probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Tubal3 A C 13: 3,978,198 (GRCm39) D38A possibly damaging Het
Vps13a T A 19: 16,624,962 (GRCm39) I2766F probably benign Het
Wwc1 A T 11: 35,735,022 (GRCm39) V951E possibly damaging Het
Zfp777 A T 6: 48,006,152 (GRCm39) M414K 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
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
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'- TCTCACTGGTCATACAAACGTG -3'
(R):5'- TTGATGCCCAATCCAACATTG -3'

Sequencing Primer
(F):5'- CTCACTGGTCATACAAACGTGTTATG -3'
(R):5'- GATGCCCAATCCAACATTGCTTTTC -3'
Posted On 2019-10-24