Incidental Mutation 'R0815:Nod2'
ID 78571
Institutional Source Beutler Lab
Gene Symbol Nod2
Ensembl Gene ENSMUSG00000055994
Gene Name nucleotide-binding oligomerization domain containing 2
Synonyms Nlrc2, Card15, F830032C23Rik
MMRRC Submission 038995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R0815 (G1)
Quality Score 215
Status Validated
Chromosome 8
Chromosomal Location 89373943-89415102 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 89399290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054324] [ENSMUST00000109634] [ENSMUST00000118370]
AlphaFold Q8K3Z0
Predicted Effect probably benign
Transcript: ENSMUST00000054324
SMART Domains Protein: ENSMUSP00000050538
Gene: ENSMUSG00000055994

DomainStartEndE-ValueType
Pfam:CARD 4 92 5.3e-20 PFAM
Blast:CARD 100 177 8e-11 BLAST
Pfam:NACHT 288 458 1.8e-46 PFAM
low complexity region 521 554 N/A INTRINSIC
low complexity region 628 639 N/A INTRINSIC
LRR 781 811 3.15e1 SMART
LRR 813 836 1.12e2 SMART
LRR 837 864 8.53e0 SMART
LRR 865 892 1.58e-3 SMART
LRR 893 920 4.83e-1 SMART
LRR 921 948 1.13e0 SMART
LRR 949 976 4.68e-6 SMART
LRR 977 1004 7.78e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109634
SMART Domains Protein: ENSMUSP00000105262
Gene: ENSMUSG00000055994

DomainStartEndE-ValueType
Pfam:CARD 11 99 2.5e-22 PFAM
Pfam:CARD 111 195 2.1e-14 PFAM
Pfam:NACHT 273 443 1.2e-45 PFAM
low complexity region 506 539 N/A INTRINSIC
low complexity region 613 624 N/A INTRINSIC
LRR 766 796 3.15e1 SMART
LRR 798 821 1.12e2 SMART
LRR 822 849 8.53e0 SMART
LRR 850 877 1.58e-3 SMART
LRR 878 905 4.83e-1 SMART
LRR 906 933 1.13e0 SMART
LRR 934 961 4.68e-6 SMART
LRR 962 989 7.78e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118370
SMART Domains Protein: ENSMUSP00000113773
Gene: ENSMUSG00000055994

DomainStartEndE-ValueType
Pfam:CARD 4 92 1e-21 PFAM
Pfam:CARD 104 188 8.4e-14 PFAM
Pfam:NACHT 266 436 2.5e-45 PFAM
low complexity region 499 532 N/A INTRINSIC
low complexity region 606 617 N/A INTRINSIC
LRR 759 789 3.15e1 SMART
LRR 791 814 1.12e2 SMART
LRR 815 842 8.53e0 SMART
LRR 843 870 1.58e-3 SMART
LRR 871 898 4.83e-1 SMART
LRR 899 926 1.13e0 SMART
LRR 927 954 4.68e-6 SMART
LRR 955 982 7.78e-3 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal immune system morphology and physiology and increased susceptibility to induced colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Atp2a2 T C 5: 122,609,299 (GRCm39) I188V probably benign Het
Cacna1s A T 1: 136,040,695 (GRCm39) I1231F possibly damaging Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nemp1 T C 10: 127,528,893 (GRCm39) L199S probably damaging Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or2ak6 A G 11: 58,593,435 (GRCm39) R303G possibly damaging Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sec31b G A 19: 44,506,612 (GRCm39) Q909* probably null Het
Slc38a11 T A 2: 65,184,124 (GRCm39) I176L possibly damaging Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Upp2 A G 2: 58,661,568 (GRCm39) T144A probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly damaging Het
Other mutations in Nod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Nod2 APN 8 89,390,364 (GRCm39) missense probably benign 0.02
IGL02299:Nod2 APN 8 89,390,370 (GRCm39) missense possibly damaging 0.81
PIT4687001:Nod2 UTSW 8 89,408,274 (GRCm39) missense probably damaging 1.00
R0305:Nod2 UTSW 8 89,391,951 (GRCm39) missense probably damaging 1.00
R0391:Nod2 UTSW 8 89,390,406 (GRCm39) missense probably benign 0.00
R0580:Nod2 UTSW 8 89,391,034 (GRCm39) missense probably damaging 1.00
R0617:Nod2 UTSW 8 89,379,859 (GRCm39) missense probably benign 0.00
R1460:Nod2 UTSW 8 89,390,440 (GRCm39) missense probably damaging 1.00
R1528:Nod2 UTSW 8 89,391,217 (GRCm39) missense possibly damaging 0.92
R1707:Nod2 UTSW 8 89,397,104 (GRCm39) missense possibly damaging 0.59
R1934:Nod2 UTSW 8 89,390,347 (GRCm39) missense probably benign
R1956:Nod2 UTSW 8 89,390,836 (GRCm39) missense probably damaging 1.00
R1972:Nod2 UTSW 8 89,379,501 (GRCm39) missense probably damaging 1.00
R1973:Nod2 UTSW 8 89,379,501 (GRCm39) missense probably damaging 1.00
R2902:Nod2 UTSW 8 89,402,091 (GRCm39) missense probably damaging 1.00
R2918:Nod2 UTSW 8 89,379,519 (GRCm39) missense probably benign 0.02
R3435:Nod2 UTSW 8 89,390,637 (GRCm39) missense possibly damaging 0.64
R3705:Nod2 UTSW 8 89,379,948 (GRCm39) missense probably benign 0.02
R4395:Nod2 UTSW 8 89,391,019 (GRCm39) missense probably damaging 1.00
R4612:Nod2 UTSW 8 89,391,664 (GRCm39) missense possibly damaging 0.65
R4756:Nod2 UTSW 8 89,390,902 (GRCm39) missense possibly damaging 0.59
R5122:Nod2 UTSW 8 89,390,748 (GRCm39) missense probably damaging 1.00
R5144:Nod2 UTSW 8 89,379,694 (GRCm39) missense probably damaging 0.99
R5166:Nod2 UTSW 8 89,390,875 (GRCm39) missense possibly damaging 0.58
R5203:Nod2 UTSW 8 89,391,079 (GRCm39) missense probably damaging 1.00
R5338:Nod2 UTSW 8 89,399,413 (GRCm39) splice site probably null
R5614:Nod2 UTSW 8 89,390,824 (GRCm39) missense probably damaging 1.00
R5746:Nod2 UTSW 8 89,390,970 (GRCm39) missense probably damaging 0.98
R5834:Nod2 UTSW 8 89,391,267 (GRCm39) missense possibly damaging 0.91
R6059:Nod2 UTSW 8 89,391,042 (GRCm39) missense probably damaging 1.00
R6282:Nod2 UTSW 8 89,397,088 (GRCm39) missense probably benign 0.02
R6707:Nod2 UTSW 8 89,391,817 (GRCm39) missense probably benign
R6741:Nod2 UTSW 8 89,379,694 (GRCm39) missense probably damaging 0.99
R6838:Nod2 UTSW 8 89,397,086 (GRCm39) missense possibly damaging 0.63
R7008:Nod2 UTSW 8 89,390,285 (GRCm39) nonsense probably null
R7182:Nod2 UTSW 8 89,390,460 (GRCm39) missense probably benign 0.01
R7324:Nod2 UTSW 8 89,379,694 (GRCm39) missense probably damaging 1.00
R7344:Nod2 UTSW 8 89,387,210 (GRCm39) missense probably damaging 1.00
R7588:Nod2 UTSW 8 89,401,536 (GRCm39) missense possibly damaging 0.80
R7625:Nod2 UTSW 8 89,391,906 (GRCm39) missense probably damaging 0.98
R7832:Nod2 UTSW 8 89,387,425 (GRCm39) splice site probably null
R8104:Nod2 UTSW 8 89,391,685 (GRCm39) missense possibly damaging 0.89
R8217:Nod2 UTSW 8 89,390,785 (GRCm39) missense probably benign 0.06
R8840:Nod2 UTSW 8 89,399,379 (GRCm39) missense probably benign 0.13
R8901:Nod2 UTSW 8 89,390,437 (GRCm39) missense probably damaging 1.00
R8974:Nod2 UTSW 8 89,390,433 (GRCm39) missense probably damaging 1.00
R9185:Nod2 UTSW 8 89,391,880 (GRCm39) missense probably damaging 1.00
R9375:Nod2 UTSW 8 89,391,033 (GRCm39) missense probably damaging 1.00
R9504:Nod2 UTSW 8 89,391,906 (GRCm39) missense probably damaging 0.98
R9516:Nod2 UTSW 8 89,397,050 (GRCm39) missense probably damaging 0.99
R9546:Nod2 UTSW 8 89,379,621 (GRCm39) missense probably benign
R9612:Nod2 UTSW 8 89,397,101 (GRCm39) missense probably benign 0.02
Z1088:Nod2 UTSW 8 89,390,774 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAATTGCTGTGCCCCTGTGACC -3'
(R):5'- GGAAAGCCCCACATTCCTTCATGC -3'

Sequencing Primer
(F):5'- TCCCTTCAGAATAGGCCAGTG -3'
(R):5'- ATGCACACCCTCTATCTCTGAAG -3'
Posted On 2013-10-16