Incidental Mutation 'R1616:Nlrp9c'
ID 174255
Institutional Source Beutler Lab
Gene Symbol Nlrp9c
Ensembl Gene ENSMUSG00000040614
Gene Name NLR family, pyrin domain containing 9C
Synonyms Nalp9c, Nalp-zeta
MMRRC Submission 039653-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1616 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 26064116-26103125 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26083862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 572 (D572E)
Ref Sequence ENSEMBL: ENSMUSP00000083106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041845] [ENSMUST00000085944]
AlphaFold Q66X01
Predicted Effect probably benign
Transcript: ENSMUST00000041845
AA Change: D572E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: D572E

DomainStartEndE-ValueType
PYRIN 5 87 7.64e-22 SMART
Pfam:NACHT 143 310 5.2e-31 PFAM
LRR 637 664 4.36e1 SMART
Blast:LRR 666 691 3e-6 BLAST
LRR 693 720 1.02e0 SMART
LRR 722 749 3e0 SMART
LRR 750 777 6.88e-4 SMART
LRR 779 806 5.06e0 SMART
LRR 807 834 1.22e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085944
AA Change: D572E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: D572E

DomainStartEndE-ValueType
PYRIN 5 87 7.64e-22 SMART
Pfam:NACHT 143 310 2.8e-31 PFAM
LRR 631 658 7.49e0 SMART
LRR 692 719 4.36e1 SMART
Blast:LRR 721 746 8e-6 BLAST
LRR 748 775 1.02e0 SMART
LRR 777 804 3e0 SMART
LRR 805 832 6.88e-4 SMART
LRR 834 861 2.17e0 SMART
LRR 862 889 2.12e-4 SMART
LRR 919 946 1.22e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160948
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.3%
  • 20x: 85.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406P04Rik T C 10: 20,187,087 (GRCm39) probably benign Het
A1cf A G 19: 31,912,175 (GRCm39) E430G probably damaging Het
Aacs T A 5: 125,561,590 (GRCm39) probably null Het
Acot12 G A 13: 91,920,886 (GRCm39) V331I probably benign Het
Acp7 A G 7: 28,310,503 (GRCm39) W445R probably damaging Het
Actl11 C A 9: 107,809,135 (GRCm39) Q1153K probably benign Het
Actr8 A G 14: 29,704,601 (GRCm39) T34A possibly damaging Het
Ahnak A G 19: 8,986,351 (GRCm39) D2545G possibly damaging Het
Ap5z1 A G 5: 142,457,991 (GRCm39) Y388C probably benign Het
Apol7a C T 15: 77,273,806 (GRCm39) G219S probably damaging Het
Arid1b T A 17: 5,389,569 (GRCm39) I1705N probably damaging Het
Bod1l T C 5: 41,966,058 (GRCm39) Q2669R probably benign Het
Braf A T 6: 39,620,067 (GRCm39) S504T probably benign Het
Cbl A T 9: 44,064,197 (GRCm39) Y780N probably damaging Het
Cd86 T C 16: 36,449,338 (GRCm39) I20V probably benign Het
Cep290 T G 10: 100,404,698 (GRCm39) D2353E probably benign Het
Ckmt2 G A 13: 92,007,328 (GRCm39) R289C probably benign Het
Col3a1 T C 1: 45,367,648 (GRCm39) probably null Het
Cyp4f16 T A 17: 32,761,942 (GRCm39) Y163* probably null Het
Dimt1 T C 13: 107,089,958 (GRCm39) V227A possibly damaging Het
Dnah6 A T 6: 73,077,095 (GRCm39) M2338K probably benign Het
Dock4 T G 12: 40,719,044 (GRCm39) I274S probably damaging Het
Enthd1 T C 15: 80,336,586 (GRCm39) D616G probably damaging Het
Fignl2 T C 15: 100,951,997 (GRCm39) E95G probably damaging Het
Foxn1 A G 11: 78,249,692 (GRCm39) M611T probably benign Het
Foxs1 T C 2: 152,774,559 (GRCm39) S165G probably benign Het
Fzd3 G T 14: 65,472,956 (GRCm39) Q271K probably benign Het
Hadhb A T 5: 30,371,713 (GRCm39) I55F probably damaging Het
Hipk3 G A 2: 104,264,090 (GRCm39) Q824* probably null Het
Hps1 G A 19: 42,755,624 (GRCm39) R201W probably damaging Het
Kif21b T C 1: 136,099,423 (GRCm39) S1477P probably damaging Het
Kif26a A T 12: 112,123,680 (GRCm39) probably null Het
Krt90 T C 15: 101,469,026 (GRCm39) E172G possibly damaging Het
Lama4 T G 10: 38,951,446 (GRCm39) F1064V probably damaging Het
Leng9 A G 7: 4,151,902 (GRCm39) V258A probably benign Het
Lgi2 A C 5: 52,703,980 (GRCm39) V217G probably benign Het
Lpgat1 T C 1: 191,495,741 (GRCm39) I310T possibly damaging Het
Ltbp3 A G 19: 5,796,995 (GRCm39) Y374C probably damaging Het
Magi2 C A 5: 20,814,324 (GRCm39) T1075K probably damaging Het
Man2c1 T C 9: 57,042,793 (GRCm39) I221T probably benign Het
Mydgf A G 17: 56,486,415 (GRCm39) M72T possibly damaging Het
Myo1b T C 1: 51,815,474 (GRCm39) N624S probably damaging Het
Myo5c T A 9: 75,203,299 (GRCm39) M1465K probably damaging Het
Nek4 A T 14: 30,709,094 (GRCm39) D716V probably damaging Het
Nfxl1 T A 5: 72,686,380 (GRCm39) Q607L probably benign Het
Nop14 G T 5: 34,807,757 (GRCm39) Q402K possibly damaging Het
Npy5r C G 8: 67,134,052 (GRCm39) C247S probably damaging Het
Nrap T A 19: 56,378,255 (GRCm39) I19F probably damaging Het
Or4c102 A G 2: 88,422,352 (GRCm39) D68G probably damaging Het
Or51t4 T A 7: 102,597,721 (GRCm39) N16K probably damaging Het
Or6z3 T G 7: 6,463,744 (GRCm39) S79A probably damaging Het
Pcdh9 A T 14: 94,124,405 (GRCm39) Y588* probably null Het
Ppp1r12a A G 10: 108,096,728 (GRCm39) E183G probably damaging Het
Ppp2r2b T A 18: 42,821,375 (GRCm39) H261L probably benign Het
Ptch1 G T 13: 63,687,656 (GRCm39) T374K possibly damaging Het
Ptpn13 A T 5: 103,713,103 (GRCm39) N1742I possibly damaging Het
Rab33a C T X: 47,608,521 (GRCm39) S15L probably benign Het
Ralb T C 1: 119,405,744 (GRCm39) Y75C probably damaging Het
Rassf7 T A 7: 140,796,645 (GRCm39) V2D probably damaging Het
Rbm10 A G X: 20,512,230 (GRCm39) N397S probably benign Het
Rbm15 T C 3: 107,238,197 (GRCm39) T734A probably benign Het
Rbm8a G T 3: 96,539,046 (GRCm39) probably benign Het
Rock2 T C 12: 17,022,986 (GRCm39) I1095T probably benign Het
Rxfp3 T A 15: 11,036,389 (GRCm39) T328S probably damaging Het
Sec31a T A 5: 100,534,054 (GRCm39) K505N possibly damaging Het
Selenof A G 3: 144,302,642 (GRCm39) *122W probably null Het
Sh3pxd2b T C 11: 32,331,441 (GRCm39) M55T possibly damaging Het
Slc15a2 T C 16: 36,574,843 (GRCm39) D522G probably benign Het
Slc2a1 T C 4: 118,993,503 (GRCm39) F447L probably damaging Het
Slc45a2 T A 15: 11,022,214 (GRCm39) C319S probably null Het
Smad4 T C 18: 73,773,333 (GRCm39) D551G probably benign Het
Smarcc2 A G 10: 128,318,662 (GRCm39) Y648C probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Stab2 A T 10: 86,721,582 (GRCm39) probably null Het
Tanc1 A G 2: 59,615,731 (GRCm39) D246G probably damaging Het
Tekt3 T G 11: 62,978,024 (GRCm39) probably null Het
Them5 G A 3: 94,253,567 (GRCm39) probably null Het
Tlr4 T A 4: 66,757,717 (GRCm39) F170Y probably damaging Het
Tmem214 T G 5: 31,028,907 (GRCm39) Y165* probably null Het
Tmem94 T C 11: 115,686,971 (GRCm39) probably null Het
Tom1l1 A G 11: 90,547,177 (GRCm39) L301S possibly damaging Het
Trpm3 A G 19: 22,960,076 (GRCm39) E1237G probably damaging Het
Ube2d1 C A 10: 71,092,523 (GRCm39) C107F probably damaging Het
Ugt3a1 C T 15: 9,306,330 (GRCm39) R160* probably null Het
Vcan G A 13: 89,853,782 (GRCm39) P393S probably damaging Het
Virma T C 4: 11,544,954 (GRCm39) F1638L probably damaging Het
Vmn1r31 G A 6: 58,449,043 (GRCm39) T274I probably damaging Het
Xylt2 C T 11: 94,559,035 (GRCm39) S445N probably damaging Het
Zfp457 A G 13: 67,444,375 (GRCm39) F43L possibly damaging Het
Zfp879 T A 11: 50,723,473 (GRCm39) M455L probably benign Het
Other mutations in Nlrp9c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Nlrp9c APN 7 26,084,013 (GRCm39) missense probably benign 0.00
IGL00814:Nlrp9c APN 7 26,084,175 (GRCm39) missense probably benign 0.23
IGL00919:Nlrp9c APN 7 26,093,481 (GRCm39) nonsense probably null
IGL01762:Nlrp9c APN 7 26,084,850 (GRCm39) missense probably damaging 1.00
IGL01928:Nlrp9c APN 7 26,074,847 (GRCm39) splice site probably benign
IGL02008:Nlrp9c APN 7 26,084,576 (GRCm39) missense probably benign 0.16
IGL02389:Nlrp9c APN 7 26,093,632 (GRCm39) missense probably benign
IGL02535:Nlrp9c APN 7 26,071,522 (GRCm39) missense probably damaging 1.00
IGL02685:Nlrp9c APN 7 26,084,982 (GRCm39) missense probably damaging 0.98
IGL02904:Nlrp9c APN 7 26,074,715 (GRCm39) missense probably damaging 1.00
IGL02935:Nlrp9c APN 7 26,084,701 (GRCm39) missense probably benign 0.00
IGL03006:Nlrp9c APN 7 26,071,507 (GRCm39) missense probably damaging 0.98
IGL03140:Nlrp9c APN 7 26,079,914 (GRCm39) missense probably benign 0.30
IGL03201:Nlrp9c APN 7 26,084,533 (GRCm39) missense probably benign 0.00
IGL03243:Nlrp9c APN 7 26,064,457 (GRCm39) missense probably damaging 0.99
holy_grail UTSW 7 26,081,837 (GRCm39) missense probably benign
IGL03054:Nlrp9c UTSW 7 26,081,701 (GRCm39) splice site probably null
K7894:Nlrp9c UTSW 7 26,084,323 (GRCm39) missense possibly damaging 0.94
R0018:Nlrp9c UTSW 7 26,071,423 (GRCm39) missense possibly damaging 0.89
R0018:Nlrp9c UTSW 7 26,071,423 (GRCm39) missense possibly damaging 0.89
R0238:Nlrp9c UTSW 7 26,077,437 (GRCm39) missense possibly damaging 0.90
R0238:Nlrp9c UTSW 7 26,077,437 (GRCm39) missense possibly damaging 0.90
R0335:Nlrp9c UTSW 7 26,093,561 (GRCm39) missense possibly damaging 0.92
R0391:Nlrp9c UTSW 7 26,070,901 (GRCm39) splice site probably benign
R0433:Nlrp9c UTSW 7 26,085,244 (GRCm39) missense probably benign 0.20
R1035:Nlrp9c UTSW 7 26,070,702 (GRCm39) splice site probably benign
R1118:Nlrp9c UTSW 7 26,083,862 (GRCm39) missense probably benign 0.01
R1119:Nlrp9c UTSW 7 26,083,862 (GRCm39) missense probably benign 0.01
R1173:Nlrp9c UTSW 7 26,079,860 (GRCm39) missense probably damaging 1.00
R1519:Nlrp9c UTSW 7 26,077,526 (GRCm39) missense possibly damaging 0.88
R1528:Nlrp9c UTSW 7 26,081,723 (GRCm39) missense probably damaging 0.99
R1774:Nlrp9c UTSW 7 26,093,543 (GRCm39) missense probably benign 0.05
R1789:Nlrp9c UTSW 7 26,079,915 (GRCm39) missense probably benign 0.00
R1869:Nlrp9c UTSW 7 26,084,245 (GRCm39) nonsense probably null
R1870:Nlrp9c UTSW 7 26,084,245 (GRCm39) nonsense probably null
R1920:Nlrp9c UTSW 7 26,084,319 (GRCm39) missense probably damaging 1.00
R1987:Nlrp9c UTSW 7 26,077,481 (GRCm39) missense probably benign 0.31
R2022:Nlrp9c UTSW 7 26,084,221 (GRCm39) missense probably damaging 1.00
R2309:Nlrp9c UTSW 7 26,077,512 (GRCm39) missense probably damaging 1.00
R2327:Nlrp9c UTSW 7 26,074,747 (GRCm39) missense probably damaging 1.00
R3405:Nlrp9c UTSW 7 26,084,707 (GRCm39) missense probably benign 0.01
R3548:Nlrp9c UTSW 7 26,070,876 (GRCm39) missense probably damaging 1.00
R3846:Nlrp9c UTSW 7 26,081,701 (GRCm39) splice site probably null
R4179:Nlrp9c UTSW 7 26,084,086 (GRCm39) missense possibly damaging 0.74
R4460:Nlrp9c UTSW 7 26,077,523 (GRCm39) missense probably damaging 1.00
R4669:Nlrp9c UTSW 7 26,074,793 (GRCm39) missense possibly damaging 0.90
R4708:Nlrp9c UTSW 7 26,084,265 (GRCm39) missense probably benign 0.07
R4810:Nlrp9c UTSW 7 26,077,602 (GRCm39) splice site probably null
R4824:Nlrp9c UTSW 7 26,079,989 (GRCm39) missense possibly damaging 0.49
R4915:Nlrp9c UTSW 7 26,083,885 (GRCm39) missense probably benign 0.34
R4996:Nlrp9c UTSW 7 26,085,172 (GRCm39) missense possibly damaging 0.92
R5468:Nlrp9c UTSW 7 26,064,425 (GRCm39) missense probably benign 0.00
R5525:Nlrp9c UTSW 7 26,083,926 (GRCm39) missense probably damaging 1.00
R5526:Nlrp9c UTSW 7 26,081,791 (GRCm39) missense possibly damaging 0.95
R6020:Nlrp9c UTSW 7 26,084,150 (GRCm39) missense probably benign 0.08
R6175:Nlrp9c UTSW 7 26,077,426 (GRCm39) splice site probably null
R6454:Nlrp9c UTSW 7 26,085,199 (GRCm39) missense possibly damaging 0.91
R6493:Nlrp9c UTSW 7 26,081,812 (GRCm39) missense probably damaging 1.00
R6649:Nlrp9c UTSW 7 26,070,747 (GRCm39) missense probably damaging 1.00
R6653:Nlrp9c UTSW 7 26,070,747 (GRCm39) missense probably damaging 1.00
R6739:Nlrp9c UTSW 7 26,084,850 (GRCm39) missense probably damaging 0.99
R6883:Nlrp9c UTSW 7 26,077,556 (GRCm39) missense probably benign 0.18
R7097:Nlrp9c UTSW 7 26,085,046 (GRCm39) missense probably damaging 1.00
R7122:Nlrp9c UTSW 7 26,085,046 (GRCm39) missense probably damaging 1.00
R7174:Nlrp9c UTSW 7 26,084,722 (GRCm39) missense probably benign 0.03
R7365:Nlrp9c UTSW 7 26,070,822 (GRCm39) missense possibly damaging 0.93
R7378:Nlrp9c UTSW 7 26,064,440 (GRCm39) missense probably benign 0.14
R7427:Nlrp9c UTSW 7 26,070,860 (GRCm39) missense probably benign 0.00
R7450:Nlrp9c UTSW 7 26,064,364 (GRCm39) missense probably benign 0.45
R7999:Nlrp9c UTSW 7 26,084,914 (GRCm39) missense possibly damaging 0.94
R8036:Nlrp9c UTSW 7 26,070,864 (GRCm39) missense possibly damaging 0.49
R8056:Nlrp9c UTSW 7 26,085,112 (GRCm39) missense probably damaging 1.00
R8249:Nlrp9c UTSW 7 26,074,778 (GRCm39) nonsense probably null
R8729:Nlrp9c UTSW 7 26,071,428 (GRCm39) missense probably benign 0.12
R9012:Nlrp9c UTSW 7 26,074,733 (GRCm39) missense probably benign 0.18
R9104:Nlrp9c UTSW 7 26,081,837 (GRCm39) missense probably benign
R9106:Nlrp9c UTSW 7 26,081,837 (GRCm39) missense probably benign
R9129:Nlrp9c UTSW 7 26,077,428 (GRCm39) critical splice donor site probably null
R9519:Nlrp9c UTSW 7 26,085,302 (GRCm39) missense possibly damaging 0.91
RF020:Nlrp9c UTSW 7 26,084,649 (GRCm39) missense probably benign
X0065:Nlrp9c UTSW 7 26,079,855 (GRCm39) missense probably damaging 0.99
Z1177:Nlrp9c UTSW 7 26,084,250 (GRCm39) missense possibly damaging 0.54
Z1177:Nlrp9c UTSW 7 26,084,200 (GRCm39) missense probably damaging 1.00
Z1177:Nlrp9c UTSW 7 26,081,773 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- CTGGCTTCATCATGAATTTGCATGGAC -3'
(R):5'- ACACTACAGTGGTACTTTGCTACCCTG -3'

Sequencing Primer
(F):5'- CATCATGAATTTGCATGGACACATC -3'
(R):5'- TATCACCCAGTTATTGGAAGCC -3'
Posted On 2014-04-24