Incidental Mutation 'R8559:Nlrc3'
| ID |
660951 |
| 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 |
068522-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R8559 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
3762871-3794496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3783146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 104
(S104P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177551]
[ENSMUST00000180200]
[ENSMUST00000229884]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177551
AA Change: S104P
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: S104P
| 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: S88P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
T |
A |
10: 89,568,048 (GRCm39) |
H19L |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,784,117 (GRCm39) |
V1579E |
probably benign |
Het |
| Arhgap40 |
C |
T |
2: 158,383,721 (GRCm39) |
R435C |
probably damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,078,897 (GRCm39) |
D207G |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,964,273 (GRCm39) |
N948S |
probably benign |
Het |
| Calcr |
G |
A |
6: 3,692,603 (GRCm39) |
P417L |
probably damaging |
Het |
| Ccn2 |
CCCGCCAACCGC |
CCCGC |
10: 24,471,966 (GRCm39) |
|
probably null |
Het |
| Cep250 |
T |
A |
2: 155,834,656 (GRCm39) |
S2194T |
probably damaging |
Het |
| Clcn6 |
C |
T |
4: 148,111,032 (GRCm39) |
V102M |
possibly damaging |
Het |
| Cog2 |
T |
C |
8: 125,269,647 (GRCm39) |
S396P |
probably benign |
Het |
| Col28a1 |
C |
A |
6: 8,166,681 (GRCm39) |
R265L |
unknown |
Het |
| Cpa6 |
C |
T |
1: 10,478,574 (GRCm39) |
W254* |
probably null |
Het |
| Crtc2 |
T |
A |
3: 90,170,904 (GRCm39) |
M659K |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,764,299 (GRCm39) |
Y3020C |
probably damaging |
Het |
| Dok2 |
C |
A |
14: 71,014,968 (GRCm39) |
H232N |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,694,169 (GRCm39) |
E834G |
probably benign |
Het |
| Elac2 |
T |
A |
11: 64,872,502 (GRCm39) |
|
probably null |
Het |
| Epx |
T |
A |
11: 87,755,618 (GRCm39) |
I689F |
probably damaging |
Het |
| Exd2 |
G |
A |
12: 80,522,631 (GRCm39) |
R30H |
probably benign |
Het |
| Gja1 |
T |
C |
10: 56,264,304 (GRCm39) |
L221P |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,834,717 (GRCm39) |
L400Q |
probably damaging |
Het |
| Gm8439 |
T |
A |
4: 120,458,008 (GRCm39) |
W50R |
unknown |
Het |
| Greb1 |
T |
A |
12: 16,746,436 (GRCm39) |
D1278V |
probably damaging |
Het |
| Grin3a |
C |
A |
4: 49,770,555 (GRCm39) |
C739F |
probably damaging |
Het |
| Gucy2g |
C |
A |
19: 55,198,786 (GRCm39) |
V786F |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,551,789 (GRCm39) |
T2605I |
probably benign |
Het |
| Hmgxb3 |
T |
A |
18: 61,288,491 (GRCm39) |
T459S |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,413,921 (GRCm39) |
H1469R |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,530,884 (GRCm39) |
I407V |
probably benign |
Het |
| Inppl1 |
G |
T |
7: 101,478,834 (GRCm39) |
S555* |
probably null |
Het |
| Krt8 |
T |
C |
15: 101,909,979 (GRCm39) |
M142V |
probably benign |
Het |
| Lrrk1 |
T |
A |
7: 65,932,075 (GRCm39) |
N1049I |
possibly damaging |
Het |
| Megf10 |
G |
A |
18: 57,373,699 (GRCm39) |
A166T |
probably damaging |
Het |
| Mei4 |
A |
T |
9: 81,907,684 (GRCm39) |
H338L |
probably benign |
Het |
| Mfsd2b |
T |
C |
12: 4,921,471 (GRCm39) |
T33A |
possibly damaging |
Het |
| Mgat3 |
A |
T |
15: 80,096,370 (GRCm39) |
Y399F |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,494,950 (GRCm39) |
T414I |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,754,715 (GRCm38) |
S1530P |
unknown |
Het |
| Myl4 |
T |
C |
11: 104,474,930 (GRCm39) |
V93A |
possibly damaging |
Het |
| N4bp2 |
T |
A |
5: 65,982,628 (GRCm39) |
S1627R |
possibly damaging |
Het |
| Narf |
T |
G |
11: 121,141,258 (GRCm39) |
|
probably null |
Het |
| Nbas |
A |
C |
12: 13,402,809 (GRCm39) |
I788L |
probably benign |
Het |
| Or14j6 |
A |
T |
17: 38,214,719 (GRCm39) |
Y94F |
probably benign |
Het |
| Or4a68 |
T |
A |
2: 89,270,528 (GRCm39) |
I32F |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,527 (GRCm39) |
I193L |
probably benign |
Het |
| Or8k3 |
A |
G |
2: 86,058,988 (GRCm39) |
V109A |
probably benign |
Het |
| Ppp4r4 |
A |
T |
12: 103,559,420 (GRCm39) |
T534S |
probably benign |
Het |
| Prg3 |
A |
G |
2: 84,819,680 (GRCm39) |
E58G |
probably benign |
Het |
| Prima1 |
A |
G |
12: 103,163,512 (GRCm39) |
V153A |
possibly damaging |
Het |
| Rp1 |
A |
T |
1: 4,419,784 (GRCm39) |
Y443N |
probably damaging |
Het |
| Rpgrip1 |
T |
C |
14: 52,386,714 (GRCm39) |
S882P |
unknown |
Het |
| Scn1a |
T |
A |
2: 66,118,077 (GRCm39) |
D412V |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,427,975 (GRCm39) |
T180A |
probably damaging |
Het |
| Suox |
A |
G |
10: 128,506,600 (GRCm39) |
L476P |
probably damaging |
Het |
| Tas2r104 |
T |
C |
6: 131,662,388 (GRCm39) |
Y107C |
probably damaging |
Het |
| Tubg2 |
T |
C |
11: 101,047,610 (GRCm39) |
V65A |
probably damaging |
Het |
| Ubn1 |
T |
C |
16: 4,882,634 (GRCm39) |
V365A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,032,646 (GRCm39) |
M807V |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 85,815,480 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Vps13b |
A |
T |
15: 35,876,788 (GRCm39) |
I2814F |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,214,815 (GRCm39) |
Y108H |
probably damaging |
Het |
| Wdr6 |
T |
A |
9: 108,452,593 (GRCm39) |
E430V |
probably benign |
Het |
| Zfp619 |
T |
A |
7: 39,186,559 (GRCm39) |
V863E |
probably benign |
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 |
|
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 |
|
|
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'- CTGTCCAGGGTGATAACTCTG -3'
(R):5'- TGAGCAGGTGAAAGCCCTTG -3'
Sequencing Primer
(F):5'- GATAACTCTGGCAGGGTGC -3'
(R):5'- AAAGCCCTTGTGGATCTGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation