Incidental Mutation 'R3110:Nlrp9a'
ID 263824
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 040584-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3110 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 26234448-26273573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26257297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 305 (V305A)
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: V305A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: V305A

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: V305A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: V305A

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: V305A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: V305A

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: V305A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: V305A

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 noncoding transcript
Transcript: ENSMUST00000143149
Predicted Effect probably benign
Transcript: ENSMUST00000153452
AA Change: V216A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: V216A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,069,655 (GRCm39) K1554* probably null Het
Acads T C 5: 115,255,757 (GRCm39) H26R probably benign Het
Acer1 G A 17: 57,265,406 (GRCm39) T141I probably damaging Het
Adam15 C G 3: 89,254,764 (GRCm39) V99L probably benign Het
Ankrd13b A G 11: 77,368,331 (GRCm39) V97A possibly damaging Het
Anpep T C 7: 79,491,720 (GRCm39) T94A probably benign Het
Atp1a3 T C 7: 24,694,119 (GRCm39) N345S probably damaging Het
Btn1a1 T A 13: 23,645,721 (GRCm39) N216I possibly damaging Het
Cacna1s G A 1: 136,002,831 (GRCm39) W62* probably null Het
Ccdc141 C T 2: 76,869,830 (GRCm39) V892I probably benign Het
Ccdc180 T A 4: 45,900,470 (GRCm39) I278K possibly damaging Het
Cdc7 T G 5: 107,122,564 (GRCm39) probably null Het
Cpb1 C T 3: 20,319,521 (GRCm39) V188M probably damaging Het
Dock5 A G 14: 68,095,371 (GRCm39) I101T possibly damaging Het
Dqx1 T C 6: 83,035,953 (GRCm39) V95A probably damaging Het
Dvl1 T A 4: 155,938,123 (GRCm39) D90E probably damaging Het
Ebf1 T A 11: 44,534,225 (GRCm39) probably benign Het
Fam135b T C 15: 71,335,879 (GRCm39) I438M probably benign Het
Fpr1 A T 17: 18,096,897 (GRCm39) M364K probably benign Het
Gm9932 A T 5: 100,346,794 (GRCm39) unknown Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gpx7 C A 4: 108,260,470 (GRCm39) V109F probably damaging Het
Grhl2 T C 15: 37,336,591 (GRCm39) probably null Het
Grn A G 11: 102,324,069 (GRCm39) T53A probably benign Het
H1f4 T C 13: 23,805,829 (GRCm39) probably benign Het
H2-T9 T C 17: 36,440,038 (GRCm39) Y32C probably damaging Het
Hmgxb3 T C 18: 61,280,454 (GRCm39) N683S probably damaging Het
Iigp1 T C 18: 60,523,983 (GRCm39) I367T probably benign Het
Itfg2 T C 6: 128,388,632 (GRCm39) E285G probably damaging Het
Itgav T A 2: 83,622,915 (GRCm39) C662* probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Jmjd1c T A 10: 67,075,863 (GRCm39) probably benign Het
Lipe T C 7: 25,097,848 (GRCm39) T32A probably benign Het
Lrrk2 A G 15: 91,698,898 (GRCm39) Y2475C probably benign Het
Mcc T C 18: 44,582,330 (GRCm39) D607G probably damaging Het
Mip T A 10: 128,061,875 (GRCm39) L42* probably null Het
Mlc1 A T 15: 88,850,199 (GRCm39) D192E probably benign Het
Muc2 T C 7: 141,299,225 (GRCm39) probably benign Het
Mybl1 T C 1: 9,752,095 (GRCm39) D260G probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Nodal G A 10: 61,260,276 (GRCm39) R309Q possibly damaging Het
Olr1 T C 6: 129,476,881 (GRCm39) N128S possibly damaging Het
Or10ak14 A T 4: 118,611,421 (GRCm39) F105I probably damaging Het
Or12j5 A G 7: 140,083,832 (GRCm39) I180T probably damaging Het
Or14a256 T C 7: 86,264,884 (GRCm39) Y323C probably benign Het
Orc1 T A 4: 108,461,757 (GRCm39) C585S probably benign Het
Pcmtd2 A T 2: 181,496,922 (GRCm39) I300F probably damaging Het
Phactr3 T A 2: 177,920,810 (GRCm39) L180Q possibly damaging Het
Pigo T C 4: 43,021,083 (GRCm39) T612A probably benign Het
Plch1 T A 3: 63,616,952 (GRCm39) D766V probably damaging Het
Plekhh3 T C 11: 101,054,973 (GRCm39) probably benign Het
Potefam1 T G 2: 111,058,399 (GRCm39) L131F probably damaging Het
Ppp1r12b T A 1: 134,800,570 (GRCm39) T547S probably damaging Het
Prkcb T A 7: 122,116,079 (GRCm39) M186K probably damaging Het
Prpf3 A T 3: 95,757,112 (GRCm39) probably benign Het
Psg23 T C 7: 18,344,369 (GRCm39) D362G possibly damaging Het
Reg3a T C 6: 78,358,114 (GRCm39) L15P probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scrib A T 15: 75,941,223 (GRCm39) I5N probably damaging Het
Speg C T 1: 75,399,326 (GRCm39) Q2005* probably null Het
Sppl3 A T 5: 115,212,923 (GRCm39) S51C possibly damaging Het
Sspo A G 6: 48,434,534 (GRCm39) T1009A probably damaging Het
Syce1l A G 8: 114,381,579 (GRCm39) Q164R probably benign Het
Sympk T C 7: 18,768,409 (GRCm39) V126A possibly damaging Het
Tas2r110 T A 6: 132,844,987 (GRCm39) I6K unknown Het
Tas2r120 A T 6: 132,634,731 (GRCm39) H271L probably damaging Het
Tlcd3a A G 11: 76,093,057 (GRCm39) D33G probably benign Het
Tnn T A 1: 159,943,856 (GRCm39) T986S possibly damaging Het
Trim5 T C 7: 103,928,845 (GRCm39) H32R probably damaging Het
Ttc13 A G 8: 125,410,573 (GRCm39) I360T possibly damaging Het
Uaca A G 9: 60,778,781 (GRCm39) E1054G probably damaging Het
Usp16 T A 16: 87,268,736 (GRCm39) probably null Het
Wee1 T A 7: 109,730,043 (GRCm39) S382R probably damaging Het
Wnt11 T C 7: 98,495,771 (GRCm39) S92P probably damaging Het
Zfp1004 C G 2: 150,034,141 (GRCm39) P185R probably damaging Het
Zfp786 A G 6: 47,797,160 (GRCm39) C593R probably damaging Het
Zfp879 T G 11: 50,723,989 (GRCm39) I283L possibly 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
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
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'- GCTGCCAATACAAATTGTCTTGAG -3'
(R):5'- ACGGGCCCTGTTCTGTTTAG -3'

Sequencing Primer
(F):5'- ACAAATTGTCTTGAGTAGTTTGCTAC -3'
(R):5'- CCTGGCATATGTTGATTTAAATGCGC -3'
Posted On 2015-02-05