Incidental Mutation 'R4996:Nlrp9c'
ID 385250
Institutional Source Beutler Lab
Gene Symbol Nlrp9c
Ensembl Gene ENSMUSG00000040614
Gene Name NLR family, pyrin domain containing 9C
Synonyms Nalp9c, Nalp-zeta
MMRRC Submission 042590-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4996 (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 26085172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 136 (F136I)
Ref Sequence ENSEMBL: ENSMUSP00000083106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041845] [ENSMUST00000085944]
AlphaFold Q66X01
Predicted Effect possibly damaging
Transcript: ENSMUST00000041845
AA Change: F136I

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: F136I

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 possibly damaging
Transcript: ENSMUST00000085944
AA Change: F136I

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: F136I

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Actl11 A G 9: 107,808,934 (GRCm39) I1086V possibly damaging Het
Adgrv1 T C 13: 81,726,853 (GRCm39) S500G probably benign Het
Ahcyl1 A T 3: 107,575,603 (GRCm39) V394E probably damaging Het
Alg9 T C 9: 50,720,005 (GRCm39) F494L probably damaging Het
Ankrd55 C A 13: 112,492,622 (GRCm39) D264E possibly damaging Het
Asb14 A G 14: 26,634,073 (GRCm39) N426S possibly damaging Het
Atm A T 9: 53,435,807 (GRCm39) F168I probably benign Het
Atp13a4 A T 16: 29,290,822 (GRCm39) I209N probably damaging Het
BB014433 A T 8: 15,092,166 (GRCm39) L229Q probably benign Het
Calml3 T C 13: 3,854,142 (GRCm39) D21G probably damaging Het
Capn10 A G 1: 92,872,858 (GRCm39) N528S probably damaging Het
Ccnl2 T A 4: 155,897,981 (GRCm39) D141E possibly damaging Het
Cd163 A G 6: 124,296,106 (GRCm39) I817V probably benign Het
Cgnl1 CTTGCCCAGGTT CTT 9: 71,632,108 (GRCm39) probably benign Het
Cln6 T A 9: 62,757,937 (GRCm39) I232N probably damaging Het
Col22a1 A C 15: 71,879,010 (GRCm39) V49G probably damaging Het
Csmd1 A T 8: 15,960,452 (GRCm39) M3321K probably damaging Het
Cyp2u1 T A 3: 131,091,933 (GRCm39) M196L probably benign Het
Dlec1 T G 9: 118,975,118 (GRCm39) L1566R probably damaging Het
Dnajc3 A G 14: 119,209,839 (GRCm39) T305A probably benign Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Efhd1 G T 1: 87,192,280 (GRCm39) G37W possibly damaging Het
Exph5 G C 9: 53,286,910 (GRCm39) E1330D possibly damaging Het
Fbln2 A T 6: 91,242,992 (GRCm39) Y913F probably benign Het
Fmnl1 G A 11: 103,073,482 (GRCm39) S167N possibly damaging Het
Frs3 A G 17: 48,012,635 (GRCm39) E114G probably damaging Het
Gmpr2 T C 14: 55,914,252 (GRCm39) I169T probably damaging Het
Gria2 A G 3: 80,614,448 (GRCm39) S531P probably damaging Het
Hace1 G A 10: 45,526,046 (GRCm39) A296T probably benign Het
Ift70a1 C T 2: 75,810,266 (GRCm39) G606S probably benign Het
Inhbb A C 1: 119,348,548 (GRCm39) L90R probably damaging Het
Insr C T 8: 3,242,665 (GRCm39) R18Q probably null Het
Kdm6b G T 11: 69,296,557 (GRCm39) P570Q probably damaging Het
Lama3 T C 18: 12,651,800 (GRCm39) V1803A probably benign Het
Lpin3 T A 2: 160,747,207 (GRCm39) L811Q probably damaging Het
Lrrc8e C T 8: 4,285,166 (GRCm39) L464F probably damaging Het
Micall2 A G 5: 139,696,344 (GRCm39) S729P probably benign Het
Naca C T 10: 127,878,298 (GRCm39) probably benign Het
Nav1 A T 1: 135,393,709 (GRCm39) S1010T probably damaging Het
Nefm T C 14: 68,358,570 (GRCm39) probably benign Het
Nup210 A T 6: 91,030,418 (GRCm39) F137Y probably benign Het
Or1o3 A G 17: 37,573,758 (GRCm39) S266P probably benign Het
Or3a1c A G 11: 74,046,157 (GRCm39) H59R probably damaging Het
Or8k32 T C 2: 86,368,615 (GRCm39) I215V probably benign Het
Otog C A 7: 45,948,030 (GRCm39) H2344N possibly damaging Het
Otog C A 7: 45,954,934 (GRCm39) C517* probably null Het
Pcdhac1 C T 18: 37,225,580 (GRCm39) Q798* probably null Het
Pdhx T C 2: 102,860,657 (GRCm39) D330G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Pgr C A 9: 8,900,914 (GRCm39) P149Q probably damaging Het
Plaat1 G A 16: 29,036,456 (GRCm39) W31* probably null Het
Ppm1h A T 10: 122,777,245 (GRCm39) I504F probably damaging Het
Ppp6r3 A G 19: 3,523,833 (GRCm39) S556P probably damaging Het
Ranbp9 G A 13: 43,578,570 (GRCm39) Q168* probably null Het
Relb A T 7: 19,349,528 (GRCm39) L259Q probably benign Het
Rfx5 G A 3: 94,863,126 (GRCm39) V73I probably benign Het
Rgcc T C 14: 79,527,716 (GRCm39) D125G possibly damaging Het
Rmnd5b A G 11: 51,518,735 (GRCm39) V86A probably damaging Het
Slc15a5 G A 6: 138,020,583 (GRCm39) T250M probably damaging Het
Slc7a2 A T 8: 41,365,599 (GRCm39) K477* probably null Het
Slx9 A T 10: 77,351,367 (GRCm39) W14R probably null Het
Smc2 T A 4: 52,461,042 (GRCm39) probably null Het
Sox5 A T 6: 143,974,070 (GRCm39) L226* probably null Het
Sp140l2 G T 1: 85,224,815 (GRCm39) A240E probably benign Het
Syne2 A G 12: 75,990,724 (GRCm39) E1903G possibly damaging Het
Tenm3 A T 8: 48,688,861 (GRCm39) I2226N probably damaging Het
Tmtc3 A T 10: 100,283,086 (GRCm39) I823N probably damaging Het
Top6bl T A 19: 4,676,112 (GRCm39) K673N probably benign Het
Tor3a T C 1: 156,483,342 (GRCm39) Y360C probably damaging Het
Trpc3 T C 3: 36,716,967 (GRCm39) E357G probably benign Het
Tubgcp6 A T 15: 88,987,693 (GRCm39) N1093K possibly damaging Het
Vmn1r64 T A 7: 5,887,052 (GRCm39) T164S probably benign Het
Vmn2r40 T A 7: 8,911,166 (GRCm39) Q709L probably damaging Het
Vmn2r81 A T 10: 79,129,247 (GRCm39) I713L probably benign Het
Washc5 T C 15: 59,205,484 (GRCm39) T686A probably benign Het
Wipf1 GCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCC 2: 73,270,418 (GRCm39) 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
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
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'- GCTAAGCTTAACTCTGTGGTATTG -3'
(R):5'- TCAGAACCCATGGTCATGCAG -3'

Sequencing Primer
(F):5'- CTGTGGTATTGTTAAGTGAGAAGAC -3'
(R):5'- CCCATGGTCATGCAGAAGTATAG -3'
Posted On 2016-05-10