Incidental Mutation 'R3843:Nlrc3'
ID |
277260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrc3
|
Ensembl Gene |
ENSMUSG00000049871 |
Gene Name |
NLR family, CARD domain containing 3 |
Synonyms |
CLR16.2, D230007K08Rik, Caterpiller 16.2 |
MMRRC Submission |
040783-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R3843 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
3762871-3794496 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 3782828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 194
(R194W)
|
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 benign
Transcript: ENSMUST00000177551
AA Change: R210W
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137628 Gene: ENSMUSG00000049871 AA Change: R210W
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 benign
Transcript: ENSMUST00000229884
AA Change: R194W
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (35/35) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,092,495 (GRCm39) |
Y168* |
probably null |
Het |
Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
Arid2 |
C |
T |
15: 96,249,721 (GRCm39) |
T145I |
possibly damaging |
Het |
Ccdc8 |
T |
C |
7: 16,729,039 (GRCm39) |
V176A |
probably damaging |
Het |
Cdhr1 |
G |
T |
14: 36,806,884 (GRCm39) |
F440L |
probably benign |
Het |
Ckap2 |
A |
T |
8: 22,665,774 (GRCm39) |
N424K |
probably damaging |
Het |
Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
Dennd1b |
C |
A |
1: 138,981,092 (GRCm39) |
P102Q |
probably damaging |
Het |
E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
Eef1akmt2 |
C |
T |
7: 132,433,305 (GRCm39) |
V134I |
probably damaging |
Het |
Elp3 |
A |
T |
14: 65,802,932 (GRCm39) |
|
probably null |
Het |
Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
Heatr1 |
T |
C |
13: 12,450,002 (GRCm39) |
Y1999H |
probably benign |
Het |
Hectd4 |
G |
T |
5: 121,397,936 (GRCm39) |
W288L |
possibly damaging |
Het |
Hnf4g |
G |
A |
3: 3,716,362 (GRCm39) |
C262Y |
probably benign |
Het |
Hrh4 |
A |
G |
18: 13,155,343 (GRCm39) |
Y294C |
possibly damaging |
Het |
Igkv5-39 |
C |
A |
6: 69,877,526 (GRCm39) |
G77W |
probably damaging |
Het |
Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
Kif26b |
T |
C |
1: 178,755,742 (GRCm39) |
L1952P |
probably damaging |
Het |
Lgr4 |
C |
T |
2: 109,827,118 (GRCm39) |
|
probably benign |
Het |
Nup214 |
T |
C |
2: 31,941,112 (GRCm39) |
F547L |
probably damaging |
Het |
Or5m3 |
A |
G |
2: 85,838,548 (GRCm39) |
I143V |
probably benign |
Het |
Pdp1 |
T |
C |
4: 11,961,961 (GRCm39) |
K117E |
probably benign |
Het |
Phtf2 |
G |
A |
5: 20,979,020 (GRCm39) |
A31V |
probably damaging |
Het |
Pip4p2 |
T |
A |
4: 14,886,553 (GRCm39) |
Y42* |
probably null |
Het |
Pkhd1 |
A |
T |
1: 20,628,947 (GRCm39) |
C667S |
probably benign |
Het |
Pnp2 |
T |
A |
14: 51,200,878 (GRCm39) |
L121Q |
probably null |
Het |
Ppfia1 |
C |
T |
7: 144,058,707 (GRCm39) |
R698Q |
probably benign |
Het |
Sidt1 |
A |
T |
16: 44,104,587 (GRCm39) |
F275I |
probably benign |
Het |
Slc50a1 |
A |
T |
3: 89,177,207 (GRCm39) |
I70N |
probably damaging |
Het |
Sytl2 |
C |
G |
7: 90,009,367 (GRCm39) |
T123R |
possibly damaging |
Het |
Tlk1 |
T |
A |
2: 70,579,671 (GRCm39) |
T214S |
probably benign |
Het |
Tmco3 |
A |
G |
8: 13,346,114 (GRCm39) |
|
probably benign |
Het |
Trim71 |
T |
C |
9: 114,344,914 (GRCm39) |
T335A |
probably benign |
Het |
Zbtb47 |
T |
A |
9: 121,592,499 (GRCm39) |
V273E |
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 |
|
IGL02795:Nlrc3
|
APN |
16 |
3,783,149 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGGCCATGGTATTGGAG -3'
(R):5'- AGCATGACTTCACACAGGTGG -3'
Sequencing Primer
(F):5'- CAGGCCATGGTATTGGAGAATTCC -3'
(R):5'- TTCACACAGGTGGAGGCC -3'
|
Posted On |
2015-04-06 |