Incidental Mutation 'R6704:Nlrc3'
ID |
528875 |
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 |
044822-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R6704 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
3762871-3794496 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3782945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 155
(V155I)
|
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: V171I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137628 Gene: ENSMUSG00000049871 AA Change: V171I
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: V155I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
T |
C |
12: 8,060,379 (GRCm39) |
S2921P |
probably damaging |
Het |
Asxl3 |
G |
A |
18: 22,650,362 (GRCm39) |
A784T |
probably benign |
Het |
Atm |
T |
C |
9: 53,370,153 (GRCm39) |
I2320V |
probably benign |
Het |
Ccdc152 |
T |
A |
15: 3,310,195 (GRCm39) |
I227F |
probably damaging |
Het |
Cd109 |
T |
C |
9: 78,587,357 (GRCm39) |
V675A |
probably benign |
Het |
Col3a1 |
T |
C |
1: 45,386,892 (GRCm39) |
Y235H |
probably damaging |
Het |
Dnmbp |
T |
C |
19: 43,889,652 (GRCm39) |
D705G |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ermn |
T |
C |
2: 57,938,046 (GRCm39) |
D189G |
possibly damaging |
Het |
Evx2 |
C |
A |
2: 74,486,499 (GRCm39) |
A297S |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,477,410 (GRCm39) |
F2152S |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 7,990,642 (GRCm39) |
V1018A |
unknown |
Het |
Hyou1 |
T |
C |
9: 44,292,431 (GRCm39) |
|
probably null |
Het |
Kcnma1 |
G |
A |
14: 24,052,882 (GRCm39) |
Q187* |
probably null |
Het |
Macf1 |
C |
T |
4: 123,304,555 (GRCm39) |
|
probably benign |
Het |
Mcam |
T |
A |
9: 44,048,217 (GRCm39) |
D124E |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,986,761 (GRCm39) |
|
probably benign |
Het |
Mlxipl |
A |
T |
5: 135,166,094 (GRCm39) |
|
probably null |
Het |
Myt1 |
A |
G |
2: 181,453,005 (GRCm39) |
M1V |
probably null |
Het |
Nlrp2 |
A |
C |
7: 5,328,040 (GRCm39) |
L671* |
probably null |
Het |
Omd |
A |
G |
13: 49,743,349 (GRCm39) |
D133G |
probably damaging |
Het |
Or5h19 |
T |
C |
16: 58,856,225 (GRCm39) |
R292G |
probably damaging |
Het |
Or9r7 |
T |
A |
10: 129,962,024 (GRCm39) |
K301* |
probably null |
Het |
Pappa |
G |
A |
4: 65,123,161 (GRCm39) |
C832Y |
probably damaging |
Het |
Pcnx3 |
A |
T |
19: 5,736,515 (GRCm39) |
V174E |
possibly damaging |
Het |
Pfkl |
C |
T |
10: 77,832,200 (GRCm39) |
G297D |
probably damaging |
Het |
Polr3a |
A |
G |
14: 24,511,910 (GRCm39) |
L882P |
probably damaging |
Het |
Ptchd4 |
A |
G |
17: 42,627,931 (GRCm39) |
T131A |
probably benign |
Het |
Rad50 |
T |
C |
11: 53,589,745 (GRCm39) |
N152S |
probably damaging |
Het |
Ruvbl1 |
T |
A |
6: 88,456,187 (GRCm39) |
M147K |
probably benign |
Het |
Septin4 |
T |
A |
11: 87,479,856 (GRCm39) |
I277N |
probably damaging |
Het |
Serpini1 |
T |
C |
3: 75,545,255 (GRCm39) |
V337A |
probably damaging |
Het |
Tmem131 |
A |
G |
1: 36,835,261 (GRCm39) |
V1620A |
possibly damaging |
Het |
Tpr |
A |
G |
1: 150,282,259 (GRCm39) |
E248G |
possibly damaging |
Het |
Ugt2b36 |
C |
A |
5: 87,239,990 (GRCm39) |
V132F |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,621,035 (GRCm39) |
E212G |
probably damaging |
Het |
Zc2hc1c |
A |
T |
12: 85,337,258 (GRCm39) |
Q305L |
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 |
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 |
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'- GTCTGCAGACAGTTTCTCATAGG -3'
(R):5'- CTGCAGAGTCAAGGATACCG -3'
Sequencing Primer
(F):5'- TCTCATAGGTGTTGAGATCCCGAAAG -3'
(R):5'- GTCAAGGATACCGAAGCACTCTG -3'
|
Posted On |
2018-07-24 |