Incidental Mutation 'RF020:Nlrp9c'
ID 603805
Institutional Source Beutler Lab
Gene Symbol Nlrp9c
Ensembl Gene ENSMUSG00000040614
Gene Name NLR family, pyrin domain containing 9C
Synonyms Nalp9c, Nalp-zeta
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF020 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 26064116-26103125 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26084649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 310 (I310N)
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: I310N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: I310N

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: I310N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: I310N

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,132,880 (GRCm39) K1270E possibly damaging Het
Adgrb2 T C 4: 129,903,877 (GRCm39) S668P probably damaging Het
Ahdc1 T G 4: 132,791,588 (GRCm39) L943R possibly damaging Het
Ank2 T C 3: 126,739,125 (GRCm39) K2253R unknown Het
Arhgap23 T C 11: 97,354,387 (GRCm39) S767P probably damaging Het
Arhgef12 A G 9: 42,901,285 (GRCm39) I839T possibly damaging Het
Begain CGCCGC CGCCGCGGCCGC 12: 108,999,350 (GRCm39) probably benign Het
Btbd19 A T 4: 116,979,472 (GRCm39) C116S probably damaging Het
Cbr1 C T 16: 93,407,067 (GRCm39) A261V probably benign Het
Ccdc137 A G 11: 120,349,022 (GRCm39) R18G probably benign Het
Cdsn AG AGACAGGAAGTAGTAGCTCTCAG 17: 35,865,876 (GRCm39) probably benign Het
Celsr3 C T 9: 108,726,256 (GRCm39) R3162C probably benign Het
Cep350 A T 1: 155,791,224 (GRCm39) V1300E probably benign Het
Cluh G GCCAGAT 11: 74,560,364 (GRCm39) probably benign Het
Cmya5 G T 13: 93,205,799 (GRCm39) Q3357K possibly damaging Het
Col6a2 T G 10: 76,442,043 (GRCm39) probably null Het
Cyp2j9 T A 4: 96,465,889 (GRCm39) T315S probably damaging Het
Cyp3a13 CATTATT CATT 5: 137,892,525 (GRCm39) probably null Het
Dnah6 T A 6: 73,095,040 (GRCm39) Y2181F probably benign Het
Dnah7b A G 1: 46,412,421 (GRCm39) D4010G possibly damaging Het
E4f1 CCG CCGACG 17: 24,674,169 (GRCm39) probably benign Het
Ep300 A T 15: 81,470,772 (GRCm39) probably benign Het
Fam234a A G 17: 26,437,725 (GRCm39) V90A probably benign Het
Gab3 TCT TCTGCT X: 74,043,623 (GRCm39) probably benign Het
Gal3st1 A G 11: 3,948,153 (GRCm39) Y120C possibly damaging Het
Garin5a GGA GGAAGGGTGGATCCTGGATACCTGGGTCTGAGGGAAGA 7: 44,149,959 (GRCm39) probably null Het
Gm5475 GTGGAAGGAAAGGT G 15: 100,325,030 (GRCm39) probably null Het
Gm6665 T TC 18: 31,953,430 (GRCm39) probably null Het
Hdlbp T C 1: 93,368,456 (GRCm39) T8A probably benign Het
Hnrnpa2b1 T A 6: 51,443,674 (GRCm39) K92N probably damaging Het
Hsdl2 GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC 4: 59,610,640 (GRCm39) probably benign Het
Klhl10 C G 11: 100,332,896 (GRCm39) Q14E probably benign Het
Klra2 GAAAGAAATCCA GAAAGAAATCCAAAGAAATCCA 6: 131,198,801 (GRCm39) probably null Het
Kmt2b CC CCTCCTGC 7: 30,285,807 (GRCm39) probably benign Het
Krt1c A G 15: 101,726,403 (GRCm39) I45T unknown Het
Ksr2 T C 5: 117,693,283 (GRCm39) S244P probably benign Het
Lama5 A T 2: 179,837,971 (GRCm39) M915K probably benign Het
Lrp1b A C 2: 41,660,858 (GRCm39) H197Q Het
Lrrc1 T C 9: 77,359,913 (GRCm39) E293G probably damaging Het
Med12l AACA AACAACA 3: 59,183,379 (GRCm39) probably benign Het
Mgam T A 6: 40,662,243 (GRCm39) Y1179N probably damaging Het
Mgat4c A G 10: 102,224,928 (GRCm39) I381V probably benign Het
Mrgprx1 A AGAC 7: 47,671,259 (GRCm39) probably benign Het
Myc A T 15: 61,857,672 (GRCm39) probably benign Het
Nipbl A G 15: 8,388,418 (GRCm39) S401P probably damaging Het
Nwd2 C A 5: 63,963,066 (GRCm39) Y883* probably null Het
Oas1e T A 5: 120,932,383 (GRCm39) T87S possibly damaging Het
Or10n7-ps1 GA GATACA 9: 39,598,049 (GRCm39) probably null Het
Or51a5 A T 7: 102,771,098 (GRCm39) C294S probably benign Het
Or52d3 A G 7: 104,229,497 (GRCm39) M215V probably benign Het
Or8b38 G A 9: 37,972,620 (GRCm39) M1I probably null Het
Pappa T G 4: 65,123,282 (GRCm39) S872R possibly damaging Het
Parp4 T C 14: 56,884,806 (GRCm39) L1295P unknown Het
Pcdh15 A T 10: 74,021,242 (GRCm39) Y152F probably damaging Het
Pdk1 A T 2: 71,714,240 (GRCm39) I217L possibly damaging Het
Phldb1 A C 9: 44,609,243 (GRCm39) C450W probably damaging Het
Pnma8a C CCATGATGCACCTGCTTCAACATCA 7: 16,695,376 (GRCm39) probably benign Het
Prl2c5 G A 13: 13,360,497 (GRCm39) G55S probably benign Het
Psme2b A T 11: 48,836,397 (GRCm39) H183Q probably damaging Het
Ptms CCTCCTC CCTCCTCCTC 6: 124,891,412 (GRCm39) probably benign Het
Rln3 T C 8: 84,769,931 (GRCm39) T73A probably benign Het
Rprd1a T A 18: 24,663,062 (GRCm39) Q21L probably damaging Het
Septin3 A T 15: 82,168,662 (GRCm39) D155V probably damaging Het
Sh3rf3 T A 10: 58,649,590 (GRCm39) V65E probably damaging Het
Shank3 A G 15: 89,384,593 (GRCm39) N155S probably benign Het
Shox2 G T 3: 66,881,146 (GRCm39) P278Q probably damaging Het
Slc1a1 T C 19: 28,856,555 (GRCm39) probably null Het
Slc39a10 A T 1: 46,849,175 (GRCm39) F814I probably damaging Het
Slc5a1 T C 5: 33,290,773 (GRCm39) I119T probably damaging Het
Slc6a13 T C 6: 121,301,310 (GRCm39) probably null Het
Spmap2l CAGCGATCCTCCCCAGTCCCGCAAGGC CAGCGATCCTCCCCAGTCCCGCAAGGCGAGCGATCCTCCCCAGTCCCGCAAGGC 5: 77,164,247 (GRCm39) probably benign Het
Spta1 A G 1: 174,041,010 (GRCm39) D1270G probably benign Het
Spta1 T A 1: 174,045,469 (GRCm39) F1542L probably damaging Het
Tacc3 T A 5: 33,818,568 (GRCm39) M1K probably null Het
Tax1bp1 T C 6: 52,698,339 (GRCm39) V17A probably damaging Het
Tmem156 T A 5: 65,248,890 (GRCm39) E3D probably benign Het
Tmem209 T A 6: 30,487,417 (GRCm39) M530L probably benign Het
Trpc2 A G 7: 101,745,433 (GRCm39) D883G unknown Het
Tsen34 GGAGCCAAAAT G 7: 3,698,795 (GRCm39) probably null Het
Uhrf2 T C 19: 30,063,791 (GRCm39) Y585H probably damaging Het
Vmn1r26 T A 6: 57,985,705 (GRCm39) K161N probably benign Het
Vmn1r29 A G 6: 58,284,528 (GRCm39) S83G probably benign Het
Vps13b G T 15: 35,925,552 (GRCm39) W3829L probably null Het
Vwce G A 19: 10,630,449 (GRCm39) G503R probably damaging Het
Zc3h11a T C 1: 133,554,735 (GRCm39) E415G possibly damaging Het
Zc3h14 T A 12: 98,746,541 (GRCm39) probably null Het
Zfp119b A T 17: 56,246,499 (GRCm39) M229K probably benign Het
Zfp384 CCAAGCTCAAGC CCAAGC 6: 125,013,418 (GRCm39) probably benign Het
Zfp384 GGCCCAGGC GGCCCAGGCCCACGCCCAGGC 6: 125,013,451 (GRCm39) probably benign Het
Zyx T A 6: 42,334,330 (GRCm39) L518Q probably damaging 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
R1616:Nlrp9c UTSW 7 26,083,862 (GRCm39) missense probably benign 0.01
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
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'- TAGATGAGCCCAAGCCAAATATTG -3'
(R):5'- GAGGCTGCCAACACAAAATG -3'

Sequencing Primer
(F):5'- GCACTCATGATAAATATCGTGTGG -3'
(R):5'- GAGTGCTCTCTGCTTCTTG -3'
Posted On 2019-12-04