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, Caterpiller 16.2, D230007K08Rik |
| MMRRC Submission |
044822-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R6704 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
3945007-3976632 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3965081 bp (GRCm38)
|
| 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: 8,010,379 (GRCm38) |
S2921P |
probably damaging |
Het |
| Asxl3 |
G |
A |
18: 22,517,305 (GRCm38) |
A784T |
probably benign |
Het |
| Atm |
T |
C |
9: 53,458,853 (GRCm38) |
I2320V |
probably benign |
Het |
| Ccdc152 |
T |
A |
15: 3,280,713 (GRCm38) |
I227F |
probably damaging |
Het |
| Cd109 |
T |
C |
9: 78,680,075 (GRCm38) |
V675A |
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,347,732 (GRCm38) |
Y235H |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,901,213 (GRCm38) |
D705G |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 19,201,163 (GRCm38) |
V432I |
probably damaging |
Het |
| Ermn |
T |
C |
2: 58,048,034 (GRCm38) |
D189G |
possibly damaging |
Het |
| Evx2 |
C |
A |
2: 74,656,155 (GRCm38) |
A297S |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,024,373 (GRCm38) |
F2152S |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,771,810 (GRCm38) |
V1018A |
unknown |
Het |
| Hyou1 |
T |
C |
9: 44,381,134 (GRCm38) |
|
probably null |
Het |
| Kcnma1 |
G |
A |
14: 24,002,814 (GRCm38) |
Q187* |
probably null |
Het |
| Macf1 |
C |
T |
4: 123,410,762 (GRCm38) |
|
probably benign |
Het |
| Mcam |
T |
A |
9: 44,136,920 (GRCm38) |
D124E |
probably benign |
Het |
| Mical3 |
T |
C |
6: 121,009,800 (GRCm38) |
|
probably benign |
Het |
| Mlxipl |
A |
T |
5: 135,137,240 (GRCm38) |
|
probably null |
Het |
| Myt1 |
A |
G |
2: 181,811,212 (GRCm38) |
M1V |
probably null |
Het |
| Nlrp2 |
A |
C |
7: 5,325,041 (GRCm38) |
L671* |
probably null |
Het |
| Olfr187 |
T |
C |
16: 59,035,862 (GRCm38) |
R292G |
probably damaging |
Het |
| Olfr824 |
T |
A |
10: 130,126,155 (GRCm38) |
K301* |
probably null |
Het |
| Omd |
A |
G |
13: 49,589,873 (GRCm38) |
D133G |
probably damaging |
Het |
| Pappa |
G |
A |
4: 65,204,924 (GRCm38) |
C832Y |
probably damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,686,487 (GRCm38) |
V174E |
possibly damaging |
Het |
| Pfkl |
C |
T |
10: 77,996,366 (GRCm38) |
G297D |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,461,842 (GRCm38) |
L882P |
probably damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,317,040 (GRCm38) |
T131A |
probably benign |
Het |
| Rad50 |
T |
C |
11: 53,698,918 (GRCm38) |
N152S |
probably damaging |
Het |
| Ruvbl1 |
T |
A |
6: 88,479,205 (GRCm38) |
M147K |
probably benign |
Het |
| Sept4 |
T |
A |
11: 87,589,030 (GRCm38) |
I277N |
probably damaging |
Het |
| Serpini1 |
T |
C |
3: 75,637,948 (GRCm38) |
V337A |
probably damaging |
Het |
| Tmem131 |
A |
G |
1: 36,796,180 (GRCm38) |
V1620A |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,406,508 (GRCm38) |
E248G |
possibly damaging |
Het |
| Ugt2b36 |
C |
A |
5: 87,092,131 (GRCm38) |
V132F |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,745,291 (GRCm38) |
E212G |
probably damaging |
Het |
| Zc2hc1c |
A |
T |
12: 85,290,484 (GRCm38) |
Q305L |
possibly damaging |
Het |
|
| Other mutations in Nlrc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Nlrc3
|
APN |
16 |
3,955,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00943:Nlrc3
|
APN |
16 |
3,965,117 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01481:Nlrc3
|
APN |
16 |
3,963,905 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01517:Nlrc3
|
APN |
16 |
3,947,487 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01988:Nlrc3
|
APN |
16 |
3,953,939 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02306:Nlrc3
|
APN |
16 |
3,964,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02515:Nlrc3
|
APN |
16 |
3,949,459 (GRCm38) |
splice site |
probably benign |
|
|
IGL02795:Nlrc3
|
APN |
16 |
3,965,285 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02897:Nlrc3
|
APN |
16 |
3,964,074 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02992:Nlrc3
|
APN |
16 |
3,954,023 (GRCm38) |
splice site |
probably benign |
|
|
IGL03003:Nlrc3
|
APN |
16 |
3,964,862 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03381:Nlrc3
|
APN |
16 |
3,964,315 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0064:Nlrc3
|
UTSW |
16 |
3,964,087 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0064:Nlrc3
|
UTSW |
16 |
3,964,087 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0122:Nlrc3
|
UTSW |
16 |
3,958,958 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0482:Nlrc3
|
UTSW |
16 |
3,965,192 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0601:Nlrc3
|
UTSW |
16 |
3,948,249 (GRCm38) |
splice site |
probably benign |
|
|
R0622:Nlrc3
|
UTSW |
16 |
3,953,968 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0675:Nlrc3
|
UTSW |
16 |
3,948,911 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1595:Nlrc3
|
UTSW |
16 |
3,965,302 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1597:Nlrc3
|
UTSW |
16 |
3,963,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2013:Nlrc3
|
UTSW |
16 |
3,965,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2077:Nlrc3
|
UTSW |
16 |
3,963,992 (GRCm38) |
missense |
probably benign |
0.35 |
|
R2327:Nlrc3
|
UTSW |
16 |
3,953,440 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2872:Nlrc3
|
UTSW |
16 |
3,957,326 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R2872:Nlrc3
|
UTSW |
16 |
3,957,326 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R3037:Nlrc3
|
UTSW |
16 |
3,952,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3794:Nlrc3
|
UTSW |
16 |
3,947,875 (GRCm38) |
missense |
probably benign |
0.22 |
|
R3843:Nlrc3
|
UTSW |
16 |
3,964,964 (GRCm38) |
missense |
probably benign |
|
|
R4761:Nlrc3
|
UTSW |
16 |
3,963,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5303:Nlrc3
|
UTSW |
16 |
3,963,614 (GRCm38) |
missense |
probably benign |
0.15 |
|
R5375:Nlrc3
|
UTSW |
16 |
3,964,753 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5468:Nlrc3
|
UTSW |
16 |
3,964,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5719:Nlrc3
|
UTSW |
16 |
3,963,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5838:Nlrc3
|
UTSW |
16 |
3,953,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5879:Nlrc3
|
UTSW |
16 |
3,964,045 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5942:Nlrc3
|
UTSW |
16 |
3,949,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6500:Nlrc3
|
UTSW |
16 |
3,952,444 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6600:Nlrc3
|
UTSW |
16 |
3,965,074 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7172:Nlrc3
|
UTSW |
16 |
3,963,753 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7283:Nlrc3
|
UTSW |
16 |
3,947,877 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7296:Nlrc3
|
UTSW |
16 |
3,963,590 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7477:Nlrc3
|
UTSW |
16 |
3,964,811 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7817:Nlrc3
|
UTSW |
16 |
3,965,463 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8118:Nlrc3
|
UTSW |
16 |
3,965,631 (GRCm38) |
missense |
probably benign |
|
|
R8559:Nlrc3
|
UTSW |
16 |
3,965,282 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8871:Nlrc3
|
UTSW |
16 |
3,964,104 (GRCm38) |
intron |
probably benign |
|
|
R9008:Nlrc3
|
UTSW |
16 |
3,958,943 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9237:Nlrc3
|
UTSW |
16 |
3,965,209 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9385:Nlrc3
|
UTSW |
16 |
3,964,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9430:Nlrc3
|
UTSW |
16 |
3,965,532 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9509:Nlrc3
|
UTSW |
16 |
3,964,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9573:Nlrc3
|
UTSW |
16 |
3,953,977 (GRCm38) |
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 |
Incidental Mutation