Incidental Mutation 'R5375:Nlrc3'
| ID |
429040 |
| 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 |
042951-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R5375 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
3762871-3794496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3782617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 264
(I264T)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000177551
AA Change: I280T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: I280T
| 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 |
possibly damaging
Transcript: ENSMUST00000229884
AA Change: I264T
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy3 |
T |
A |
12: 4,260,870 (GRCm39) |
N995K |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,361,233 (GRCm39) |
M60T |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,505,809 (GRCm39) |
H70Q |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,859,207 (GRCm39) |
I5N |
possibly damaging |
Het |
| Blm |
T |
C |
7: 80,162,977 (GRCm39) |
T125A |
probably benign |
Het |
| Bloc1s1 |
T |
C |
10: 128,759,826 (GRCm39) |
|
probably benign |
Het |
| Calcr |
G |
T |
6: 3,714,651 (GRCm39) |
Q160K |
probably benign |
Het |
| Ccdc43 |
C |
T |
11: 102,581,058 (GRCm39) |
A131T |
probably damaging |
Het |
| Cdh15 |
A |
T |
8: 123,591,839 (GRCm39) |
N575Y |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,441,611 (GRCm39) |
D827G |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,387,059 (GRCm39) |
|
probably null |
Het |
| Creb5 |
A |
T |
6: 53,658,002 (GRCm39) |
M255L |
possibly damaging |
Het |
| Cst8 |
A |
G |
2: 148,646,503 (GRCm39) |
I78V |
probably benign |
Het |
| Cyld |
A |
G |
8: 89,459,664 (GRCm39) |
E440G |
possibly damaging |
Het |
| Cyp2b9 |
A |
C |
7: 25,887,167 (GRCm39) |
D192A |
probably damaging |
Het |
| Dclre1b |
C |
T |
3: 103,711,290 (GRCm39) |
R207H |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,100,838 (GRCm39) |
F1936L |
probably damaging |
Het |
| Dpp9 |
A |
C |
17: 56,496,424 (GRCm39) |
Y761* |
probably null |
Het |
| Drc1 |
A |
T |
5: 30,513,745 (GRCm39) |
M434L |
probably benign |
Het |
| Dtx3l |
A |
T |
16: 35,753,397 (GRCm39) |
I403N |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,809,401 (GRCm39) |
K1658* |
probably null |
Het |
| Efcab9 |
A |
G |
11: 32,477,484 (GRCm39) |
Y13H |
probably damaging |
Het |
| Efhb |
T |
A |
17: 53,708,654 (GRCm39) |
N672I |
possibly damaging |
Het |
| Eif5b |
T |
C |
1: 38,084,835 (GRCm39) |
V894A |
possibly damaging |
Het |
| Elovl3 |
T |
C |
19: 46,123,135 (GRCm39) |
F237S |
probably benign |
Het |
| Emc1 |
T |
A |
4: 139,093,802 (GRCm39) |
D637E |
probably damaging |
Het |
| Erbb2 |
C |
A |
11: 98,324,238 (GRCm39) |
P742Q |
probably damaging |
Het |
| Fam234b |
C |
A |
6: 135,210,355 (GRCm39) |
L584M |
probably damaging |
Het |
| Fancd2 |
A |
T |
6: 113,545,673 (GRCm39) |
D14V |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,153,646 (GRCm39) |
H3522R |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,842,945 (GRCm39) |
N147D |
possibly damaging |
Het |
| Gm26657 |
A |
G |
4: 56,741,180 (GRCm39) |
|
probably benign |
Het |
| Hcrtr1 |
C |
T |
4: 130,029,518 (GRCm39) |
V188M |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,375,169 (GRCm39) |
V3331A |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,320,453 (GRCm39) |
V3978A |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,385,262 (GRCm39) |
R202K |
probably benign |
Het |
| Lgr5 |
C |
T |
10: 115,314,469 (GRCm39) |
S156N |
probably benign |
Het |
| Mras |
T |
G |
9: 99,276,669 (GRCm39) |
D67A |
probably damaging |
Het |
| Mrpl39 |
A |
G |
16: 84,520,790 (GRCm39) |
L283P |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,275,915 (GRCm39) |
I110N |
probably benign |
Het |
| Neb |
T |
C |
2: 52,102,596 (GRCm39) |
D544G |
possibly damaging |
Het |
| Or10a2 |
T |
A |
7: 106,673,080 (GRCm39) |
M15K |
probably benign |
Het |
| Or1j13 |
A |
G |
2: 36,369,309 (GRCm39) |
Y278H |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,248 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Or7g18 |
A |
G |
9: 18,787,442 (GRCm39) |
K273R |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Phf11d |
T |
C |
14: 59,590,120 (GRCm39) |
D234G |
probably null |
Het |
| Polq |
A |
T |
16: 36,903,146 (GRCm39) |
D1980V |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,437,022 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec23a |
A |
G |
12: 59,053,791 (GRCm39) |
V69A |
probably benign |
Het |
| Sipa1 |
A |
G |
19: 5,709,640 (GRCm39) |
I260T |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,020,017 (GRCm39) |
L628H |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,525,730 (GRCm39) |
V323A |
probably damaging |
Het |
| Sun2 |
A |
G |
15: 79,611,723 (GRCm39) |
S565P |
probably damaging |
Het |
| Tmem74 |
C |
T |
15: 43,730,564 (GRCm39) |
D160N |
possibly damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Trp53inp1 |
A |
G |
4: 11,165,305 (GRCm39) |
T110A |
probably benign |
Het |
| Ttll9 |
G |
T |
2: 152,826,144 (GRCm39) |
C118F |
probably benign |
Het |
| Vps4b |
A |
G |
1: 106,719,422 (GRCm39) |
L42P |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,342,250 (GRCm39) |
N1497I |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,875,764 (GRCm39) |
V123A |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,477,485 (GRCm39) |
T3367S |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,615,813 (GRCm39) |
E1782G |
possibly damaging |
Het |
| Zfp35 |
T |
A |
18: 24,135,973 (GRCm39) |
C106S |
possibly damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,062,812 (GRCm39) |
T624A |
probably benign |
Het |
| Zmiz2 |
C |
T |
11: 6,347,519 (GRCm39) |
Q276* |
probably null |
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 |
|
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'- GTTGGCCTGCACTTGACTAAG -3'
(R):5'- AACACCTATGAGAAACTGTCTGC -3'
Sequencing Primer
(F):5'- TGCACTTGACTAAGGACCTG -3'
(R):5'- TGCAGACAGACTCATCCAATC -3'
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| Posted On |
2016-09-06 |
Incidental Mutation