Incidental Mutation 'IGL03003:Nlrc3'
ID |
407453 |
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: 0.104)
|
Stock # |
IGL03003
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
3762871-3794496 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 3782726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 228
(V228L)
|
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: V244L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137628 Gene: ENSMUSG00000049871 AA Change: V244L
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: V228L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
C |
T |
1: 130,671,509 (GRCm39) |
P577L |
probably damaging |
Het |
Aff3 |
A |
T |
1: 38,248,651 (GRCm39) |
S819T |
probably damaging |
Het |
Aftph |
G |
T |
11: 20,676,982 (GRCm39) |
S209* |
probably null |
Het |
Astn1 |
T |
A |
1: 158,439,965 (GRCm39) |
D844E |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,828,608 (GRCm39) |
K29E |
probably benign |
Het |
Ccdc93 |
T |
C |
1: 121,390,846 (GRCm39) |
S273P |
possibly damaging |
Het |
Cd200r3 |
C |
A |
16: 44,764,139 (GRCm39) |
H2N |
probably benign |
Het |
Cd200r3 |
G |
T |
16: 44,764,138 (GRCm39) |
M1I |
probably null |
Het |
Col7a1 |
G |
A |
9: 108,804,024 (GRCm39) |
|
probably null |
Het |
Cyp3a41a |
T |
A |
5: 145,642,640 (GRCm39) |
M240L |
probably benign |
Het |
Dcstamp |
T |
C |
15: 39,617,906 (GRCm39) |
V105A |
possibly damaging |
Het |
Dmbt1 |
C |
A |
7: 130,684,409 (GRCm39) |
P635Q |
probably benign |
Het |
Dsg1a |
T |
A |
18: 20,469,876 (GRCm39) |
M634K |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,495,140 (GRCm39) |
Y138H |
probably damaging |
Het |
Fga |
T |
C |
3: 82,940,037 (GRCm39) |
S564P |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,244,094 (GRCm39) |
L142S |
probably damaging |
Het |
Gm5422 |
T |
C |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
Helz2 |
A |
G |
2: 180,882,046 (GRCm39) |
V249A |
probably damaging |
Het |
Hmcn2 |
C |
A |
2: 31,323,498 (GRCm39) |
T4204K |
probably damaging |
Het |
Ift81 |
T |
C |
5: 122,732,725 (GRCm39) |
I270V |
probably benign |
Het |
Katnip |
A |
T |
7: 125,451,132 (GRCm39) |
I1088F |
probably damaging |
Het |
Kif6 |
C |
T |
17: 50,060,899 (GRCm39) |
R411* |
probably null |
Het |
Klhl35 |
T |
A |
7: 99,119,550 (GRCm39) |
V345D |
probably damaging |
Het |
Mcm3ap |
C |
A |
10: 76,340,531 (GRCm39) |
D1531E |
probably benign |
Het |
Muc5b |
C |
A |
7: 141,417,351 (GRCm39) |
D3432E |
probably benign |
Het |
Nipbl |
A |
T |
15: 8,379,798 (GRCm39) |
V998D |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,310,384 (GRCm39) |
H1456R |
probably damaging |
Het |
Nt5c1b |
C |
T |
12: 10,424,910 (GRCm39) |
A210V |
possibly damaging |
Het |
Or13a18 |
A |
G |
7: 140,190,283 (GRCm39) |
Y60C |
probably damaging |
Het |
Or1l4b |
T |
C |
2: 37,036,464 (GRCm39) |
V80A |
probably benign |
Het |
Osbpl7 |
T |
C |
11: 96,941,521 (GRCm39) |
Y15H |
probably benign |
Het |
Pde8b |
T |
A |
13: 95,178,465 (GRCm39) |
N552Y |
probably damaging |
Het |
Pi4kb |
T |
A |
3: 94,892,123 (GRCm39) |
S280T |
probably benign |
Het |
Pkd1 |
T |
A |
17: 24,812,577 (GRCm39) |
|
probably null |
Het |
Polh |
A |
T |
17: 46,505,292 (GRCm39) |
V108E |
possibly damaging |
Het |
Prob1 |
A |
G |
18: 35,786,428 (GRCm39) |
S609P |
possibly damaging |
Het |
Ptprz1 |
T |
A |
6: 23,002,582 (GRCm39) |
N1557K |
probably damaging |
Het |
Rev1 |
A |
C |
1: 38,127,154 (GRCm39) |
F369V |
possibly damaging |
Het |
Rgma |
A |
G |
7: 73,067,188 (GRCm39) |
N148D |
probably damaging |
Het |
Robo3 |
A |
G |
9: 37,330,587 (GRCm39) |
L1003S |
probably damaging |
Het |
Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
Sema6c |
T |
C |
3: 95,076,925 (GRCm39) |
L337P |
probably damaging |
Het |
Shc4 |
A |
T |
2: 125,565,253 (GRCm39) |
Y15* |
probably null |
Het |
Slc4a9 |
T |
C |
18: 36,669,946 (GRCm39) |
S722P |
probably damaging |
Het |
Smarcc1 |
A |
G |
9: 110,035,168 (GRCm39) |
N864D |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,432,021 (GRCm39) |
L745P |
probably damaging |
Het |
Syce1l |
A |
G |
8: 114,380,699 (GRCm39) |
D137G |
probably damaging |
Het |
Tbc1d1 |
G |
T |
5: 64,473,781 (GRCm39) |
W768L |
probably damaging |
Het |
Tmbim7 |
A |
G |
5: 3,711,887 (GRCm39) |
D7G |
probably benign |
Het |
Tmem109 |
A |
C |
19: 10,851,695 (GRCm39) |
S64A |
probably benign |
Het |
Tnfrsf21 |
A |
G |
17: 43,350,834 (GRCm39) |
R333G |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,611,955 (GRCm39) |
S17316R |
probably damaging |
Het |
Usp10 |
A |
G |
8: 120,681,549 (GRCm39) |
T668A |
possibly damaging |
Het |
Xirp2 |
T |
A |
2: 67,345,906 (GRCm39) |
F2716I |
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 |
|
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 |
2016-08-02 |