Incidental Mutation 'PIT4687001:Nod2'
| ID |
556191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nod2
|
| Ensembl Gene |
ENSMUSG00000055994 |
| Gene Name |
nucleotide-binding oligomerization domain containing 2 |
| Synonyms |
Nlrc2, Card15, F830032C23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
PIT4687001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
89373943-89415102 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89408274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 967
(V967E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054324]
[ENSMUST00000109634]
[ENSMUST00000118370]
|
| AlphaFold |
Q8K3Z0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054324
AA Change: V967E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000050538
Gene: ENSMUSG00000055994
AA Change: V967E
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000109634
AA Change: V952E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105262
Gene: ENSMUSG00000055994
AA Change: V952E
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000118370
AA Change: V945E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113773
Gene: ENSMUSG00000055994
AA Change: V945E
| Domain | Start | End | E-Value | Type |
|---|
|
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: 93.4%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
T |
G |
3: 137,995,596 (GRCm39) |
V333G |
probably damaging |
Het |
| Aggf1 |
A |
G |
13: 95,501,383 (GRCm39) |
L333P |
probably damaging |
Het |
| Ankmy1 |
A |
G |
1: 92,812,803 (GRCm39) |
V502A |
probably benign |
Het |
| Atm |
A |
G |
9: 53,398,112 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
G |
4: 45,949,526 (GRCm39) |
T1594A |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,373,453 (GRCm39) |
D1244E |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,670,385 (GRCm39) |
D638G |
probably damaging |
Het |
| Ctsr |
T |
C |
13: 61,308,346 (GRCm39) |
H266R |
possibly damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,172,036 (GRCm39) |
E711K |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,383,723 (GRCm39) |
S2982P |
probably damaging |
Het |
| Dsg1a |
G |
T |
18: 20,464,755 (GRCm39) |
A417S |
probably benign |
Het |
| Gdpd1 |
T |
C |
11: 86,950,366 (GRCm39) |
D69G |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,050,801 (GRCm39) |
R310H |
possibly damaging |
Het |
| Ifna2 |
G |
A |
4: 88,601,542 (GRCm39) |
H159Y |
possibly damaging |
Het |
| Kptn |
T |
C |
7: 15,859,751 (GRCm39) |
V325A |
probably damaging |
Het |
| Marchf7 |
A |
G |
2: 60,062,622 (GRCm39) |
E143G |
probably damaging |
Het |
| Mcm4 |
A |
G |
16: 15,454,577 (GRCm39) |
L47P |
probably benign |
Het |
| Mcm8 |
T |
C |
2: 132,659,097 (GRCm39) |
F27S |
possibly damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,531,338 (GRCm39) |
R659Q |
probably benign |
Het |
| Or10al4 |
T |
G |
17: 38,037,082 (GRCm39) |
C56G |
probably benign |
Het |
| Or4x12-ps1 |
A |
G |
2: 89,916,733 (GRCm39) |
V24A |
probably benign |
Het |
| Parp10 |
C |
T |
15: 76,125,122 (GRCm39) |
R545Q |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,021,579 (GRCm39) |
E332G |
probably benign |
Het |
| Pramel27 |
C |
T |
4: 143,573,103 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
| Qsox2 |
G |
A |
2: 26,112,300 (GRCm39) |
L81F |
possibly damaging |
Het |
| Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,069,151 (GRCm39) |
D433G |
probably benign |
Het |
| Stpg2 |
T |
C |
3: 138,921,026 (GRCm39) |
I77T |
possibly damaging |
Het |
| Sugp2 |
T |
C |
8: 70,710,162 (GRCm39) |
S928P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,308,390 (GRCm39) |
S722P |
possibly damaging |
Het |
| Szt2 |
A |
T |
4: 118,255,398 (GRCm39) |
S229T |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,206,630 (GRCm39) |
L505P |
probably damaging |
Het |
| Ttc39d |
G |
A |
17: 80,524,354 (GRCm39) |
A338T |
probably damaging |
Het |
| Ubash3b |
A |
G |
9: 40,934,814 (GRCm39) |
F489L |
probably damaging |
Het |
| Xpo7 |
A |
T |
14: 70,904,589 (GRCm39) |
Y1015N |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,302 (GRCm39) |
Y333* |
probably null |
Het |
| Zp2 |
T |
C |
7: 119,741,102 (GRCm39) |
T141A |
probably benign |
Het |
|
| Other mutations in Nod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R0815:Nod2
|
UTSW |
8 |
89,399,290 (GRCm39) |
splice site |
probably benign |
|
|
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'- AAGCATGGACCACCTTTGCAC -3'
(R):5'- GATACTGGTATCCTCATTGCCC -3'
Sequencing Primer
(F):5'- ACCACCTTTGCACGGCTG -3'
(R):5'- GTATCCTCATTGCCCAGTCCAAAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation