Incidental Mutation 'R7039:Nlrp9a'
ID 546943
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 045139-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R7039 (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 T at 26267367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 766 (T766S)
Ref Sequence ENSEMBL: ENSMUSP00000113318 (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: T766S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: T766S

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: T821S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: T821S

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: T766S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: T766S

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: T766S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: T766S

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: T732S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: T732S

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: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7b A T 4: 56,741,022 (GRCm39) L112Q probably damaging Het
Agap3 A C 5: 24,688,399 (GRCm39) I396L probably benign Het
AI987944 G T 7: 41,023,880 (GRCm39) S366R probably benign Het
Aox3 A G 1: 58,215,714 (GRCm39) T1049A probably damaging Het
Ap1g2 A T 14: 55,340,111 (GRCm39) L407* probably null Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Brd3 T C 2: 27,346,929 (GRCm39) K402E probably damaging Het
Cc2d2b A T 19: 40,790,845 (GRCm39) D935V probably damaging Het
Cenpe A G 3: 134,961,217 (GRCm39) N1904D probably benign Het
Cfap74 G T 4: 155,538,565 (GRCm39) probably null Het
Chrdl2 A G 7: 99,677,879 (GRCm39) T261A probably damaging Het
Cyp4a14 G A 4: 115,348,278 (GRCm39) R400C probably benign Het
Dhfr G A 13: 92,491,791 (GRCm39) V9I probably benign Het
Epha4 A G 1: 77,483,422 (GRCm39) S196P probably damaging Het
Evc2 T A 5: 37,579,232 (GRCm39) L1115Q probably damaging Het
Fat3 T A 9: 16,287,561 (GRCm39) E654V probably damaging Het
Fcgbpl1 G A 7: 27,839,573 (GRCm39) R462Q possibly damaging Het
Fer1l4 C T 2: 155,878,650 (GRCm39) V14I probably benign Het
Frmd5 A T 2: 121,378,128 (GRCm39) probably benign Het
Helz T C 11: 107,510,144 (GRCm39) probably null Het
Igkv6-13 T C 6: 70,434,498 (GRCm39) S116G probably benign Het
Iscu T C 5: 113,914,833 (GRCm39) V115A possibly damaging Het
Jade2 C A 11: 51,719,186 (GRCm39) K253N probably damaging Het
Katnal2 A G 18: 77,134,868 (GRCm39) probably null Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Magi3 T C 3: 103,958,699 (GRCm39) D462G probably damaging Het
Map3k14 T C 11: 103,111,861 (GRCm39) N940S probably damaging Het
Masp2 A T 4: 148,687,043 (GRCm39) M1L probably benign Het
Mga G A 2: 119,763,159 (GRCm39) V1272I probably benign Het
Mib2 T C 4: 155,744,158 (GRCm39) D168G probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Msto1 A C 3: 88,818,697 (GRCm39) V287G probably damaging Het
Myo5b T A 18: 74,834,599 (GRCm39) D886E probably benign Het
Nek10 T C 14: 14,826,946 (GRCm38) I48T possibly damaging Het
Nek10 A T 14: 14,986,700 (GRCm38) R1013W probably damaging Het
Nipsnap3a T C 4: 53,000,130 (GRCm39) V194A probably damaging Het
Nol10 T A 12: 17,479,185 (GRCm39) S672T possibly damaging Het
Or4a80 A T 2: 89,583,095 (GRCm39) F26I probably benign Het
Or4c121 A T 2: 89,023,790 (GRCm39) I196N probably damaging Het
Or8d1b T A 9: 38,887,283 (GRCm39) F104I probably damaging Het
Or8j3c A T 2: 86,253,177 (GRCm39) I281K possibly damaging Het
Patj T A 4: 98,457,315 (GRCm39) N1272K probably damaging Het
Peak1 T C 9: 56,165,093 (GRCm39) E945G probably benign Het
Peg3 C T 7: 6,720,858 (GRCm39) D16N probably damaging Het
Pik3r4 T G 9: 105,554,089 (GRCm39) I1082M possibly damaging Het
Plekhg5 T A 4: 152,192,242 (GRCm39) M472K possibly damaging Het
Plekhm1 T C 11: 103,286,054 (GRCm39) D127G probably damaging Het
Ppfia4 G A 1: 134,239,853 (GRCm39) S908L probably damaging Het
Psmc3 A G 2: 90,885,391 (GRCm39) N60S probably benign Het
Rapgef1 T A 2: 29,616,226 (GRCm39) D697E probably damaging Het
Rapgef3 T A 15: 97,659,449 (GRCm39) H54L probably benign Het
Rhobtb3 G A 13: 76,020,572 (GRCm39) R577* probably null Het
Safb2 T C 17: 56,871,594 (GRCm39) E218G possibly damaging Het
Scaf1 C T 7: 44,657,850 (GRCm39) R343H probably damaging Het
Snx24 G A 18: 53,473,307 (GRCm39) probably null Het
Tbc1d1 T C 5: 64,442,100 (GRCm39) F707L probably benign Het
Tcaf2 T C 6: 42,603,074 (GRCm39) T829A probably damaging Het
Tcea2 C T 2: 181,328,711 (GRCm39) Q248* probably null Het
Tcirg1 A T 19: 3,946,666 (GRCm39) L729Q probably damaging Het
Thap3 A G 4: 152,070,149 (GRCm39) F82L probably damaging Het
Ttk T A 9: 83,750,145 (GRCm39) M700K probably damaging Het
Ubap2l G T 3: 89,909,662 (GRCm39) P56H probably damaging Het
Ubr2 A G 17: 47,321,139 (GRCm39) S3P probably benign Het
Uchl3 C T 14: 101,923,128 (GRCm39) probably benign Het
Vmn2r111 T A 17: 22,767,165 (GRCm39) E777D probably damaging Het
Vmn2r20 A T 6: 123,363,082 (GRCm39) D567E probably damaging Het
Vps13c T G 9: 67,845,045 (GRCm39) L2043R probably damaging Het
Zan T G 5: 137,398,396 (GRCm39) D4212A unknown Het
Zap70 C T 1: 36,817,832 (GRCm39) P278S probably benign Het
Zbtb8b A T 4: 129,321,478 (GRCm39) M461K possibly damaging Het
Zfat T G 15: 68,052,211 (GRCm39) I528L probably benign Het
Zfp532 T G 18: 65,771,834 (GRCm39) V784G 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
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
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'- AAGTCTGAGGAAGCATGTGTTTC -3'
(R):5'- AGTAGTCTCTGGGGACTCATCC -3'

Sequencing Primer
(F):5'- TCTGAGGAAGCATGTGTTTCAACAG -3'
(R):5'- CGACGGACTCCATATCTTAAGATAGG -3'
Posted On 2019-05-13