Incidental Mutation 'R1595:Nlrc3'
| ID |
175759 |
| 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 |
039632-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R1595 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3762871-3794496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3783166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 81
(E81G)
|
| 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: E97G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: E97G
| 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: E81G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
97% (77/79) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
C |
T |
1: 75,153,944 (GRCm39) |
|
probably null |
Het |
| Abcc10 |
G |
T |
17: 46,633,164 (GRCm39) |
P556H |
probably damaging |
Het |
| Abcc9 |
A |
T |
6: 142,578,821 (GRCm39) |
D914E |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,978,764 (GRCm39) |
V193A |
probably benign |
Het |
| Adm |
A |
T |
7: 110,228,298 (GRCm39) |
T160S |
probably damaging |
Het |
| Ammecr1l |
T |
C |
18: 31,905,173 (GRCm39) |
|
probably null |
Het |
| Angpt2 |
T |
C |
8: 18,748,129 (GRCm39) |
D377G |
probably damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,313,593 (GRCm39) |
|
probably null |
Het |
| Arhgap30 |
T |
G |
1: 171,235,909 (GRCm39) |
M761R |
probably benign |
Het |
| Asb4 |
T |
G |
6: 5,390,692 (GRCm39) |
N28K |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,444,389 (GRCm39) |
D696E |
probably benign |
Het |
| Cd200 |
G |
A |
16: 45,215,214 (GRCm39) |
T123I |
probably benign |
Het |
| Cfap70 |
A |
G |
14: 20,497,604 (GRCm39) |
V50A |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,701,987 (GRCm39) |
|
probably null |
Het |
| Chgb |
A |
C |
2: 132,635,657 (GRCm39) |
D533A |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,509,536 (GRCm39) |
Y3041H |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,024,186 (GRCm39) |
N337D |
probably benign |
Het |
| Csad |
G |
A |
15: 102,086,217 (GRCm39) |
A51V |
probably damaging |
Het |
| Cstdc7 |
T |
C |
18: 42,306,454 (GRCm39) |
M7T |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,332 (GRCm39) |
Y380C |
possibly damaging |
Het |
| Dpysl2 |
G |
T |
14: 67,052,952 (GRCm39) |
A299E |
probably damaging |
Het |
| Efcc1 |
A |
G |
6: 87,708,440 (GRCm39) |
E189G |
probably damaging |
Het |
| Egfr |
T |
C |
11: 16,856,847 (GRCm39) |
I940T |
probably damaging |
Het |
| Etnk2 |
T |
G |
1: 133,300,917 (GRCm39) |
L228R |
possibly damaging |
Het |
| Fitm2 |
A |
G |
2: 163,311,610 (GRCm39) |
I201T |
probably benign |
Het |
| Foxo1 |
A |
T |
3: 52,253,375 (GRCm39) |
M513L |
probably benign |
Het |
| Galnt16 |
A |
T |
12: 80,637,410 (GRCm39) |
K379I |
probably damaging |
Het |
| Gm57858 |
C |
T |
3: 36,073,146 (GRCm39) |
A379T |
probably damaging |
Het |
| Gtf2a1 |
T |
A |
12: 91,556,323 (GRCm39) |
N6Y |
probably damaging |
Het |
| Kcnc1 |
G |
A |
7: 46,077,010 (GRCm39) |
V271M |
probably benign |
Het |
| Klhdc8b |
T |
A |
9: 108,328,362 (GRCm39) |
D30V |
probably damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,882,914 (GRCm39) |
Q448* |
probably null |
Het |
| Med29 |
T |
C |
7: 28,091,928 (GRCm39) |
D54G |
probably damaging |
Het |
| Mfn2 |
T |
C |
4: 147,979,153 (GRCm39) |
T60A |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,317,730 (GRCm39) |
|
probably benign |
Het |
| Mxd1 |
A |
T |
6: 86,628,453 (GRCm39) |
V149E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,435,602 (GRCm39) |
Y974N |
probably damaging |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Nhsl1 |
G |
T |
10: 18,402,096 (GRCm39) |
K1107N |
probably damaging |
Het |
| Or10al3 |
G |
T |
17: 38,012,004 (GRCm39) |
A148S |
probably benign |
Het |
| Or9e1 |
G |
T |
11: 58,732,478 (GRCm39) |
M179I |
probably benign |
Het |
| Osbpl5 |
C |
T |
7: 143,256,955 (GRCm39) |
V392M |
possibly damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,653,506 (GRCm39) |
V401E |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,762,672 (GRCm39) |
H1444Q |
probably damaging |
Het |
| Pdlim2 |
A |
G |
14: 70,402,193 (GRCm39) |
Y308H |
probably damaging |
Het |
| Phf14 |
T |
G |
6: 11,988,752 (GRCm39) |
L664R |
possibly damaging |
Het |
| Phkb |
T |
C |
8: 86,753,182 (GRCm39) |
|
probably benign |
Het |
| Ptchd3 |
T |
A |
11: 121,721,420 (GRCm39) |
F98I |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,652,469 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
A |
T |
14: 33,678,155 (GRCm39) |
H701L |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,550,774 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,089,729 (GRCm39) |
S373T |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,329,323 (GRCm39) |
Y769F |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,005,131 (GRCm39) |
I922V |
probably damaging |
Het |
| Serpina3g |
A |
G |
12: 104,205,531 (GRCm39) |
E90G |
probably benign |
Het |
| Sh3rf2 |
C |
T |
18: 42,244,353 (GRCm39) |
T273I |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,831,675 (GRCm39) |
T350A |
probably benign |
Het |
| Socs5 |
T |
C |
17: 87,441,623 (GRCm39) |
C188R |
probably damaging |
Het |
| Tacr1 |
A |
G |
6: 82,380,723 (GRCm39) |
T45A |
probably benign |
Het |
| Th |
A |
G |
7: 142,450,745 (GRCm39) |
V117A |
probably benign |
Het |
| Thpo |
C |
A |
16: 20,547,206 (GRCm39) |
D81Y |
probably damaging |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,385 (GRCm39) |
|
noncoding transcript |
Het |
| Trpc4 |
A |
G |
3: 54,223,236 (GRCm39) |
E724G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,977 (GRCm39) |
T24639A |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 120,873,904 (GRCm39) |
S1176P |
probably damaging |
Het |
| Urgcp |
T |
C |
11: 5,667,447 (GRCm39) |
D297G |
probably damaging |
Het |
| Vmn1r168 |
G |
A |
7: 23,240,620 (GRCm39) |
G159D |
probably damaging |
Het |
| Vmn1r67 |
A |
T |
7: 10,181,597 (GRCm39) |
N226I |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,208,574 (GRCm39) |
E57G |
probably benign |
Het |
| Zdhhc14 |
G |
T |
17: 5,543,831 (GRCm39) |
R37L |
probably benign |
Het |
| Zfp512b |
G |
A |
2: 181,230,229 (GRCm39) |
T499I |
probably damaging |
Het |
| Zmym2 |
A |
T |
14: 57,158,187 (GRCm39) |
K575N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGGCCCAGCAATGAACAAAATG -3'
(R):5'- TGAGCAGGTGAAAGCCCTTGTG -3'
Sequencing Primer
(F):5'- AAATGCCTCACTAGCGTGGTC -3'
(R):5'- TCCCAGAGCAATGGTAAGTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation