Incidental Mutation 'IGL02795:Nlrc3'
| ID |
359946 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nlrc3
|
| Ensembl Gene |
ENSMUSG00000049871 |
| Gene Name |
NLR family, CARD domain containing 3 |
| Synonyms |
CLR16.2, D230007K08Rik, Caterpiller 16.2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
IGL02795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
3762871-3794496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 3783149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 87
(H87N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177551]
[ENSMUST00000180200]
[ENSMUST00000229884]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000096308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163478
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177551
AA Change: H103N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: H103N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NACHT
|
176 |
342 |
2e-34 |
PFAM |
|
LRR
|
702 |
729 |
3.11e-2 |
SMART |
|
LRR
|
730 |
757 |
2.27e-4 |
SMART |
|
LRR
|
758 |
785 |
8.15e-1 |
SMART |
|
LRR
|
786 |
813 |
2.17e-1 |
SMART |
|
LRR
|
814 |
841 |
2.12e-4 |
SMART |
|
LRR
|
842 |
869 |
3.42e0 |
SMART |
|
LRR
|
870 |
897 |
7.67e-2 |
SMART |
|
LRR
|
898 |
925 |
3.21e0 |
SMART |
|
LRR
|
926 |
953 |
1.67e0 |
SMART |
|
LRR
|
954 |
981 |
4.87e-4 |
SMART |
|
LRR
|
982 |
1009 |
4.3e0 |
SMART |
|
LRR
|
1010 |
1037 |
3.8e-6 |
SMART |
|
LRR
|
1038 |
1065 |
4.47e-3 |
SMART |
|
LRR
|
1066 |
1093 |
1.08e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180200
|
| SMART Domains |
Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
4 |
24 |
8.65e1 |
SMART |
|
LRR
|
25 |
52 |
2.27e-4 |
SMART |
|
LRR
|
53 |
80 |
8.15e-1 |
SMART |
|
LRR
|
81 |
108 |
2.17e-1 |
SMART |
|
LRR
|
109 |
136 |
2.12e-4 |
SMART |
|
LRR
|
137 |
164 |
3.42e0 |
SMART |
|
LRR
|
165 |
192 |
7.67e-2 |
SMART |
|
LRR
|
193 |
220 |
3.21e0 |
SMART |
|
LRR
|
221 |
248 |
1.67e0 |
SMART |
|
LRR
|
249 |
276 |
4.87e-4 |
SMART |
|
LRR
|
277 |
304 |
4.3e0 |
SMART |
|
LRR
|
305 |
332 |
3.8e-6 |
SMART |
|
LRR
|
333 |
360 |
4.47e-3 |
SMART |
|
LRR
|
361 |
388 |
1.08e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229884
AA Change: H87N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced susceptibility to LPS-induced toxic shock. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,327,907 (GRCm39) |
L1391P |
probably damaging |
Het |
| Abcc3 |
G |
A |
11: 94,252,468 (GRCm39) |
|
probably benign |
Het |
| Acvr1 |
A |
G |
2: 58,352,964 (GRCm39) |
I332T |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,271,191 (GRCm39) |
V247M |
probably damaging |
Het |
| Btn1a1 |
T |
C |
13: 23,644,786 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
A |
T |
11: 49,065,694 (GRCm39) |
|
probably benign |
Het |
| Dbx1 |
T |
A |
7: 49,286,325 (GRCm39) |
I47F |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,155,571 (GRCm39) |
Y393C |
probably damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,507,937 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,838,407 (GRCm39) |
S220G |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,877,390 (GRCm39) |
M451K |
probably benign |
Het |
| Eml3 |
A |
G |
19: 8,911,142 (GRCm39) |
Y257C |
probably benign |
Het |
| Fam3d |
T |
A |
14: 8,355,497 (GRCm38) |
M113L |
probably benign |
Het |
| Fbxw19 |
C |
A |
9: 109,324,886 (GRCm39) |
M10I |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
| Galnt5 |
C |
A |
2: 57,917,883 (GRCm39) |
P707H |
probably damaging |
Het |
| Gba2 |
G |
T |
4: 43,578,331 (GRCm39) |
P6Q |
probably damaging |
Het |
| Gm13199 |
A |
G |
2: 5,867,484 (GRCm39) |
|
probably benign |
Het |
| Gpr45 |
C |
T |
1: 43,071,653 (GRCm39) |
R99C |
possibly damaging |
Het |
| Hecw1 |
G |
A |
13: 14,497,102 (GRCm39) |
S302L |
probably damaging |
Het |
| Hrg |
T |
C |
16: 22,776,303 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,045,889 (GRCm39) |
|
probably null |
Het |
| Lgr4 |
T |
C |
2: 109,838,555 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
C |
T |
12: 72,525,542 (GRCm39) |
T830M |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,736,206 (GRCm39) |
T341A |
probably benign |
Het |
| Mms19 |
C |
T |
19: 41,940,845 (GRCm39) |
|
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,714,849 (GRCm39) |
S362G |
probably benign |
Het |
| Or1e17 |
G |
A |
11: 73,831,755 (GRCm39) |
V228I |
probably benign |
Het |
| Or2ah1 |
T |
A |
2: 85,653,856 (GRCm39) |
C180* |
probably null |
Het |
| Or4b13 |
A |
G |
2: 90,082,906 (GRCm39) |
L142P |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,090 (GRCm39) |
F96L |
probably benign |
Het |
| Or5h17 |
G |
T |
16: 58,820,640 (GRCm39) |
L197F |
possibly damaging |
Het |
| Pcsk1 |
G |
T |
13: 75,260,739 (GRCm39) |
G321C |
probably damaging |
Het |
| Poglut3 |
A |
G |
9: 53,303,405 (GRCm39) |
D99G |
probably damaging |
Het |
| Prrc2c |
G |
T |
1: 162,541,868 (GRCm39) |
P374T |
probably benign |
Het |
| Rusc1 |
A |
T |
3: 88,999,257 (GRCm39) |
L175Q |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,610,076 (GRCm39) |
N4250S |
probably benign |
Het |
| Scara5 |
A |
C |
14: 65,968,129 (GRCm39) |
N134T |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,857,447 (GRCm39) |
K595R |
probably benign |
Het |
| Serpinb6a |
A |
C |
13: 34,115,576 (GRCm39) |
L15R |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,234,684 (GRCm39) |
N1006K |
probably damaging |
Het |
| Slc18a2 |
G |
A |
19: 59,262,922 (GRCm39) |
|
probably benign |
Het |
| Slc22a30 |
C |
T |
19: 8,378,259 (GRCm39) |
C139Y |
probably damaging |
Het |
| Slc25a27 |
T |
A |
17: 43,958,003 (GRCm39) |
Y269F |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,395,782 (GRCm39) |
D611V |
probably benign |
Het |
| Spag6 |
G |
T |
2: 18,737,894 (GRCm39) |
V255F |
probably benign |
Het |
| Svep1 |
C |
A |
4: 58,123,223 (GRCm39) |
G698W |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,013,323 (GRCm39) |
L2839P |
probably damaging |
Het |
| Tfb2m |
T |
C |
1: 179,373,524 (GRCm39) |
E58G |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,896,324 (GRCm39) |
E260D |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 87,065,560 (GRCm39) |
D493V |
probably damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,287 (GRCm39) |
V189A |
possibly damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,305,539 (GRCm39) |
Q74R |
probably benign |
Het |
| Vps25 |
A |
G |
11: 101,146,916 (GRCm39) |
Y64C |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,339,480 (GRCm39) |
G574S |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,970,505 (GRCm39) |
E273G |
possibly damaging |
Het |
|
| Other mutations in Nlrc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Nlrc3
|
APN |
16 |
3,773,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00943:Nlrc3
|
APN |
16 |
3,782,981 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01481:Nlrc3
|
APN |
16 |
3,781,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01517:Nlrc3
|
APN |
16 |
3,765,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01988:Nlrc3
|
APN |
16 |
3,771,803 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02306:Nlrc3
|
APN |
16 |
3,782,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02515:Nlrc3
|
APN |
16 |
3,767,323 (GRCm39) |
splice site |
probably benign |
|
|
IGL02897:Nlrc3
|
APN |
16 |
3,781,938 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02992:Nlrc3
|
APN |
16 |
3,771,887 (GRCm39) |
splice site |
probably benign |
|
|
IGL03003:Nlrc3
|
APN |
16 |
3,782,726 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03381:Nlrc3
|
APN |
16 |
3,782,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0064:Nlrc3
|
UTSW |
16 |
3,781,951 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0064:Nlrc3
|
UTSW |
16 |
3,781,951 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0122:Nlrc3
|
UTSW |
16 |
3,776,822 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0482:Nlrc3
|
UTSW |
16 |
3,783,056 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0601:Nlrc3
|
UTSW |
16 |
3,766,113 (GRCm39) |
splice site |
probably benign |
|
|
R0622:Nlrc3
|
UTSW |
16 |
3,771,832 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0675:Nlrc3
|
UTSW |
16 |
3,766,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1595:Nlrc3
|
UTSW |
16 |
3,783,166 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1597:Nlrc3
|
UTSW |
16 |
3,781,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Nlrc3
|
UTSW |
16 |
3,782,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2077:Nlrc3
|
UTSW |
16 |
3,781,856 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2327:Nlrc3
|
UTSW |
16 |
3,771,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Nlrc3
|
UTSW |
16 |
3,775,190 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2872:Nlrc3
|
UTSW |
16 |
3,775,190 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3037:Nlrc3
|
UTSW |
16 |
3,770,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3794:Nlrc3
|
UTSW |
16 |
3,765,739 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3843:Nlrc3
|
UTSW |
16 |
3,782,828 (GRCm39) |
missense |
probably benign |
|
|
R4761:Nlrc3
|
UTSW |
16 |
3,781,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5303:Nlrc3
|
UTSW |
16 |
3,781,478 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5375:Nlrc3
|
UTSW |
16 |
3,782,617 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5468:Nlrc3
|
UTSW |
16 |
3,781,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Nlrc3
|
UTSW |
16 |
3,781,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5838:Nlrc3
|
UTSW |
16 |
3,771,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5879:Nlrc3
|
UTSW |
16 |
3,781,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Nlrc3
|
UTSW |
16 |
3,767,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6500:Nlrc3
|
UTSW |
16 |
3,770,308 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6600:Nlrc3
|
UTSW |
16 |
3,782,938 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6704:Nlrc3
|
UTSW |
16 |
3,782,945 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7172:Nlrc3
|
UTSW |
16 |
3,781,617 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7283:Nlrc3
|
UTSW |
16 |
3,765,741 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7296:Nlrc3
|
UTSW |
16 |
3,781,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7477:Nlrc3
|
UTSW |
16 |
3,782,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7817:Nlrc3
|
UTSW |
16 |
3,783,327 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8118:Nlrc3
|
UTSW |
16 |
3,783,495 (GRCm39) |
missense |
probably benign |
|
|
R8559:Nlrc3
|
UTSW |
16 |
3,783,146 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8871:Nlrc3
|
UTSW |
16 |
3,781,968 (GRCm39) |
intron |
probably benign |
|
|
R9008:Nlrc3
|
UTSW |
16 |
3,776,807 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9237:Nlrc3
|
UTSW |
16 |
3,783,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9385:Nlrc3
|
UTSW |
16 |
3,781,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9430:Nlrc3
|
UTSW |
16 |
3,783,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9509:Nlrc3
|
UTSW |
16 |
3,782,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Nlrc3
|
UTSW |
16 |
3,771,841 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Posted On |
2015-12-18 |
Incidental Mutation