Incidental Mutation 'R7283:Nlrc3'
| ID |
565829 |
| 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 |
045361-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R7283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3762871-3794496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3765741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 351
(A351V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177551]
[ENSMUST00000180200]
[ENSMUST00000229884]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177551
AA Change: A1056V
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: A1056V
| 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
AA Change: A351V
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871
AA Change: A351V
| 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: A928V
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (72/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,700,504 (GRCm39) |
V278A |
probably benign |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Abce1 |
C |
A |
8: 80,411,885 (GRCm39) |
G592* |
probably null |
Het |
| Acad10 |
A |
C |
5: 121,787,538 (GRCm39) |
V137G |
possibly damaging |
Het |
| Adcy3 |
A |
G |
12: 4,253,563 (GRCm39) |
I672V |
not run |
Het |
| Adgrb1 |
A |
T |
15: 74,452,512 (GRCm39) |
Q1166L |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,768,955 (GRCm39) |
N465K |
probably damaging |
Het |
| Avpr1b |
A |
G |
1: 131,537,469 (GRCm39) |
T418A |
probably benign |
Het |
| Azin1 |
G |
A |
15: 38,501,652 (GRCm39) |
T33I |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,706,425 (GRCm39) |
T1339A |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,165,654 (GRCm39) |
Q1346R |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,001,446 (GRCm39) |
Y299C |
probably damaging |
Het |
| Clip1 |
A |
C |
5: 123,751,857 (GRCm39) |
C641W |
|
Het |
| Clip3 |
T |
C |
7: 30,005,237 (GRCm39) |
S524P |
probably damaging |
Het |
| Cnpy4 |
A |
T |
5: 138,191,144 (GRCm39) |
H240L |
probably benign |
Het |
| Cyp2b19 |
T |
C |
7: 26,466,339 (GRCm39) |
Y381H |
probably damaging |
Het |
| Cyp3a13 |
T |
A |
5: 137,903,818 (GRCm39) |
N280I |
probably benign |
Het |
| Diaph3 |
A |
G |
14: 87,104,020 (GRCm39) |
F788S |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,798,207 (GRCm39) |
N484S |
probably damaging |
Het |
| Erap1 |
G |
A |
13: 74,821,903 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
T |
3: 38,943,842 (GRCm39) |
I912F |
probably damaging |
Het |
| Hsd3b3 |
T |
A |
3: 98,649,673 (GRCm39) |
K217* |
probably null |
Het |
| Igkv12-89 |
A |
G |
6: 68,812,061 (GRCm39) |
V36A |
probably damaging |
Het |
| Invs |
T |
A |
4: 48,392,526 (GRCm39) |
|
probably null |
Het |
| Ipo8 |
T |
A |
6: 148,725,979 (GRCm39) |
Y30F |
possibly damaging |
Het |
| Kctd14 |
T |
C |
7: 97,100,693 (GRCm39) |
M1T |
probably null |
Het |
| Klrb1c |
A |
T |
6: 128,761,220 (GRCm39) |
C136S |
probably benign |
Het |
| Morn2 |
A |
G |
17: 80,604,688 (GRCm39) |
E48G |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,092,670 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nfxl1 |
A |
G |
5: 72,686,393 (GRCm39) |
S603P |
probably benign |
Het |
| Nlrp4f |
G |
A |
13: 65,343,352 (GRCm39) |
R76* |
probably null |
Het |
| Or1e1f |
T |
C |
11: 73,855,634 (GRCm39) |
S67P |
probably damaging |
Het |
| Or52n1 |
G |
T |
7: 104,382,800 (GRCm39) |
T257K |
probably damaging |
Het |
| Or5h22 |
A |
T |
16: 58,894,555 (GRCm39) |
M296K |
probably benign |
Het |
| Or7e176 |
A |
C |
9: 20,171,555 (GRCm39) |
I140L |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,483 (GRCm39) |
I201N |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,817,394 (GRCm39) |
V601A |
not run |
Het |
| Pde4dip |
T |
C |
3: 97,666,198 (GRCm39) |
T349A |
probably benign |
Het |
| Pdlim5 |
T |
C |
3: 142,017,741 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,366,676 (GRCm39) |
N718S |
probably benign |
Het |
| Plcxd3 |
A |
G |
15: 4,546,401 (GRCm39) |
H135R |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,191 (GRCm39) |
Y375F |
probably damaging |
Het |
| Prkca |
C |
T |
11: 108,231,471 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
G |
16: 15,535,628 (GRCm39) |
S1663G |
probably benign |
Het |
| Ptbp3 |
T |
C |
4: 59,514,384 (GRCm39) |
T80A |
probably benign |
Het |
| Ptpn4 |
C |
T |
1: 119,610,261 (GRCm39) |
V696I |
possibly damaging |
Het |
| Pygl |
A |
T |
12: 70,263,342 (GRCm39) |
W175R |
possibly damaging |
Het |
| Rftn1 |
A |
G |
17: 50,354,469 (GRCm39) |
Y298H |
probably damaging |
Het |
| Rit2 |
A |
G |
18: 31,449,892 (GRCm39) |
|
probably null |
Het |
| Runx1t1 |
G |
A |
4: 13,846,935 (GRCm39) |
G240R |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,493,845 (GRCm39) |
|
probably null |
Het |
| Serpina16 |
A |
C |
12: 103,638,691 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
A |
T |
13: 24,039,831 (GRCm39) |
M290L |
|
Het |
| Slc6a4 |
A |
T |
11: 76,901,522 (GRCm39) |
M86L |
probably benign |
Het |
| Spag7 |
A |
T |
11: 70,556,139 (GRCm39) |
V46E |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,127,131 (GRCm39) |
R1960W |
possibly damaging |
Het |
| Sptlc1 |
T |
C |
13: 53,498,914 (GRCm39) |
I271V |
probably benign |
Het |
| Stk17b |
A |
C |
1: 53,796,674 (GRCm39) |
H364Q |
probably benign |
Het |
| Strc |
T |
C |
2: 121,209,933 (GRCm39) |
H130R |
probably damaging |
Het |
| Stxbp1 |
T |
A |
2: 32,705,026 (GRCm39) |
D148V |
probably damaging |
Het |
| Tirap |
G |
A |
9: 35,100,225 (GRCm39) |
P153L |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tmem51 |
T |
A |
4: 141,759,094 (GRCm39) |
D218V |
probably damaging |
Het |
| Trim40 |
A |
T |
17: 37,193,554 (GRCm39) |
D218E |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,039,062 (GRCm39) |
D934G |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,002,914 (GRCm39) |
L108P |
probably damaging |
Het |
| Washc2 |
C |
A |
6: 116,204,379 (GRCm39) |
P429Q |
probably damaging |
Het |
| Wipi1 |
A |
G |
11: 109,502,137 (GRCm39) |
M1T |
probably null |
Het |
| Zfp438 |
A |
G |
18: 5,214,712 (GRCm39) |
V82A |
probably damaging |
Het |
| Zfp853 |
G |
C |
5: 143,273,493 (GRCm39) |
A724G |
unknown |
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 |
|
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'- AGGACCCTACTGAATTTGCCC -3'
(R):5'- AGCTTAGAGGTCAAATGTCAGTC -3'
Sequencing Primer
(F):5'- TAGACCTAGTCTCCCCGTGG -3'
(R):5'- GTCAAATGTCAGTCTAGCAGTTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation