Incidental Mutation 'R7427:Nlrp9c'
ID 576175
Institutional Source Beutler Lab
Gene Symbol Nlrp9c
Ensembl Gene ENSMUSG00000040614
Gene Name NLR family, pyrin domain containing 9C
Synonyms Nalp9c, Nalp-zeta
MMRRC Submission 045505-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7427 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 26064116-26103125 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26070860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 907 (D907G)
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: D795G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: D795G

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: D907G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: D907G

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (78/78)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 T A 15: 76,478,585 (GRCm39) C318S possibly damaging Het
Aspm T A 1: 139,385,354 (GRCm39) C333S probably benign Het
B3gnt4 A G 5: 123,648,794 (GRCm39) N53S probably damaging Het
Bpifb5 G A 2: 154,067,042 (GRCm39) M98I probably benign Het
Cacna2d3 A G 14: 28,786,232 (GRCm39) M585T probably damaging Het
Cbarp T C 10: 79,967,138 (GRCm39) D701G probably damaging Het
Ccn2 T G 10: 24,473,397 (GRCm39) M312R probably damaging Het
Cntrl T A 2: 35,060,546 (GRCm39) W1913R probably benign Het
Cry2 T C 2: 92,243,392 (GRCm39) D483G possibly damaging Het
Csmd1 A G 8: 16,073,864 (GRCm39) F2044L possibly damaging Het
Cxcl16 A G 11: 70,349,630 (GRCm39) V78A possibly damaging Het
Cxcr6 A T 9: 123,639,305 (GRCm39) Y109F probably benign Het
Cyb5b A G 8: 107,897,048 (GRCm39) D106G probably benign Het
D630036H23Rik T C 12: 36,431,537 (GRCm39) R154G unknown Het
Dnah9 T C 11: 65,846,045 (GRCm39) T2998A probably benign Het
Focad T C 4: 88,286,988 (GRCm39) S1254P unknown Het
Gm21886 A T 18: 80,132,867 (GRCm39) L97Q probably damaging Het
Gpr158 A C 2: 21,832,129 (GRCm39) L1076F probably benign Het
Hivep2 T C 10: 14,009,485 (GRCm39) M1714T possibly damaging Het
Hlcs A G 16: 94,068,758 (GRCm39) V154A probably benign Het
Hpdl A T 4: 116,678,062 (GRCm39) L133Q probably damaging Het
Il1rn C A 2: 24,239,554 (GRCm39) T150K probably benign Het
Il6st A G 13: 112,625,094 (GRCm39) I237V probably benign Het
Inpp5f A G 7: 128,281,529 (GRCm39) D510G probably damaging Het
Ism2 G T 12: 87,333,769 (GRCm39) T92K possibly damaging Het
Kif13b T C 14: 65,025,909 (GRCm39) I1422T probably benign Het
Kit G A 5: 75,806,507 (GRCm39) V671I possibly damaging Het
Klhdc8a A T 1: 132,230,705 (GRCm39) N190I probably damaging Het
Lad1 C T 1: 135,753,576 (GRCm39) T41I probably damaging Het
Lrrc7 G T 3: 157,903,778 (GRCm39) T294K probably benign Het
Megf8 C T 7: 25,037,796 (GRCm39) R771C probably benign Het
Micu3 A C 8: 40,831,955 (GRCm39) N440T possibly damaging Het
Mnx1 T C 5: 29,679,211 (GRCm39) N291D unknown Het
Mthfr A G 4: 148,136,060 (GRCm39) M378V probably benign Het
Mup2 A T 4: 60,138,454 (GRCm39) D79E probably benign Het
Myzap T C 9: 71,412,465 (GRCm39) T451A probably benign Het
Nr1h4 T C 10: 89,334,267 (GRCm39) E41G probably benign Het
Nup98 A T 7: 101,784,208 (GRCm39) probably null Het
Nxpe5 A C 5: 138,238,022 (GRCm39) Y194S probably damaging Het
Omd A T 13: 49,745,745 (GRCm39) E385V possibly damaging Het
Or12d15 T C 17: 37,694,190 (GRCm39) V244A probably damaging Het
Or12e9 G T 2: 87,202,034 (GRCm39) V53L probably benign Het
Or2av9 A G 11: 58,380,606 (GRCm39) I325T probably benign Het
Or52m1 A G 7: 102,289,533 (GRCm39) I27V probably benign Het
Or5m12 T A 2: 85,734,475 (GRCm39) R308* probably null Het
Or5m3 A T 2: 85,838,563 (GRCm39) I148L probably benign Het
Or9s18 A G 13: 65,300,866 (GRCm39) Y276C probably damaging Het
Pcdh9 G T 14: 94,124,547 (GRCm39) T541K probably damaging Het
Pdia6 T C 12: 17,328,546 (GRCm39) V167A probably damaging Het
Phf7 C T 14: 30,962,370 (GRCm39) R145Q possibly damaging Het
Pitx3 T C 19: 46,125,863 (GRCm39) D20G possibly damaging Het
Plxnb1 T C 9: 108,937,236 (GRCm39) V1139A probably benign Het
Pon2 A T 6: 5,268,995 (GRCm39) N226K probably damaging Het
Potegl C T 2: 23,147,006 (GRCm39) R337C probably benign Het
Ppp1r10 T A 17: 36,241,025 (GRCm39) H642Q possibly damaging Het
Prom2 A G 2: 127,381,731 (GRCm39) L195P probably damaging Het
Psg23 C T 7: 18,345,908 (GRCm39) probably null Het
Rfx4 C A 10: 84,731,876 (GRCm39) Q618K probably benign Het
Rhobtb1 T A 10: 69,084,654 (GRCm39) I15N probably damaging Het
Rhot2 A T 17: 26,060,583 (GRCm39) V233E probably damaging Het
Ripply2 T C 9: 86,901,809 (GRCm39) S112P possibly damaging Het
Slc12a1 C A 2: 125,056,052 (GRCm39) T861N probably benign Het
Slc35f1 T A 10: 52,965,510 (GRCm39) S308R probably damaging Het
Slc35f4 T A 14: 49,536,355 (GRCm39) I427F probably damaging Het
Slco1a8 T G 6: 141,949,234 (GRCm39) probably null Het
Sned1 G A 1: 93,217,080 (GRCm39) V1322I probably benign Het
Sprr2f G A 3: 92,273,251 (GRCm39) V17M unknown Het
Srd5a3 A G 5: 76,302,490 (GRCm39) H285R probably benign Het
Stab1 T C 14: 30,881,216 (GRCm39) T605A probably benign Het
Syne1 T C 10: 5,223,718 (GRCm39) Q3054R probably damaging Het
Tas1r1 T C 4: 152,122,765 (GRCm39) T27A probably benign Het
Tmem150b A T 7: 4,719,209 (GRCm39) V237E probably benign Het
Trpv6 C T 6: 41,602,087 (GRCm39) M407I probably benign Het
Ttn T G 2: 76,550,698 (GRCm39) D31528A probably damaging Het
Uroc1 A T 6: 90,323,344 (GRCm39) D354V possibly damaging Het
Vmn2r69 T C 7: 85,060,467 (GRCm39) I372M probably benign Het
Vmn2r93 A T 17: 18,546,672 (GRCm39) H848L probably benign Het
Zfp971 T A 2: 177,674,967 (GRCm39) C189S 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
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'- CCATGGGAGACAGTGTATACTC -3'
(R):5'- AGAAGTCCAACTAGCATAGGC -3'

Sequencing Primer
(F):5'- GTGTATACTCACCCAAGCATATTCAG -3'
(R):5'- ATGCACAGGTCTTGTACAGC -3'
Posted On 2019-10-07