Incidental Mutation 'R9573:Nlrc3'
| ID |
722141 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R9573 (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 T
at 3771841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 157
(V157E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137325
(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: V862E
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: V862E
| 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: V157E
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871
AA Change: V157E
| 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: V846E
PolyPhen 2
Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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 |
|---|
| Afdn |
T |
A |
17: 14,050,229 (GRCm39) |
V472E |
probably damaging |
Het |
| Ak3 |
T |
C |
19: 29,003,667 (GRCm39) |
I170V |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,791,977 (GRCm39) |
L1058* |
probably null |
Het |
| Ankrd60 |
A |
G |
2: 173,410,791 (GRCm39) |
V243A |
possibly damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Arid3c |
T |
G |
4: 41,726,003 (GRCm39) |
E200A |
probably benign |
Het |
| Astn2 |
T |
G |
4: 65,566,591 (GRCm39) |
I856L |
probably benign |
Het |
| Bcs1l |
C |
A |
1: 74,629,492 (GRCm39) |
R177S |
probably damaging |
Het |
| Bin2 |
A |
T |
15: 100,560,433 (GRCm39) |
F43I |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,600,544 (GRCm39) |
L691P |
probably damaging |
Het |
| Bud23 |
C |
T |
5: 135,082,274 (GRCm39) |
V266I |
possibly damaging |
Het |
| Casp12 |
A |
T |
9: 5,354,629 (GRCm39) |
I333L |
probably benign |
Het |
| Cavin2 |
T |
A |
1: 51,328,795 (GRCm39) |
I84N |
probably damaging |
Het |
| Ccdc168 |
A |
C |
1: 44,095,307 (GRCm39) |
Y1930* |
probably null |
Het |
| Ccdc196 |
A |
T |
12: 78,244,098 (GRCm39) |
N17I |
|
Het |
| Cep170b |
T |
A |
12: 112,691,154 (GRCm39) |
F24I |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,704,302 (GRCm39) |
Y719C |
unknown |
Het |
| Commd7 |
A |
G |
2: 153,463,981 (GRCm39) |
M137T |
probably damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,657,910 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
C |
14: 26,414,619 (GRCm39) |
T7P |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,373,094 (GRCm39) |
I548N |
probably damaging |
Het |
| Endod1 |
A |
T |
9: 14,292,247 (GRCm39) |
L7Q |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,802,662 (GRCm39) |
V477M |
probably damaging |
Het |
| Glis2 |
C |
T |
16: 4,429,505 (GRCm39) |
R211C |
probably damaging |
Het |
| Gm4744 |
A |
T |
6: 40,925,497 (GRCm39) |
V122D |
|
Het |
| Gm4952 |
G |
A |
19: 12,604,090 (GRCm39) |
M167I |
probably benign |
Het |
| Hyal4 |
T |
C |
6: 24,756,508 (GRCm39) |
V242A |
possibly damaging |
Het |
| Ift122 |
T |
G |
6: 115,857,646 (GRCm39) |
S131A |
probably benign |
Het |
| Il4ra |
T |
A |
7: 125,169,158 (GRCm39) |
S137T |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,573,471 (GRCm39) |
L742Q |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,538,185 (GRCm39) |
K315R |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,979,774 (GRCm39) |
Y1258H |
probably damaging |
Het |
| Mapk9 |
A |
T |
11: 49,769,239 (GRCm39) |
K290N |
probably damaging |
Het |
| Mfhas1 |
C |
T |
8: 36,143,903 (GRCm39) |
H1045Y |
possibly damaging |
Het |
| Ndufaf7 |
C |
A |
17: 79,246,036 (GRCm39) |
Q90K |
probably damaging |
Het |
| Npas4 |
A |
G |
19: 5,035,837 (GRCm39) |
F776L |
probably benign |
Het |
| Nuggc |
A |
C |
14: 65,848,603 (GRCm39) |
D184A |
probably benign |
Het |
| Ogdhl |
A |
G |
14: 32,066,678 (GRCm39) |
E795G |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,509 (GRCm39) |
I189T |
probably damaging |
Het |
| Or9a2 |
T |
G |
6: 41,748,940 (GRCm39) |
I98L |
probably benign |
Het |
| Pcbp1 |
A |
T |
6: 86,502,677 (GRCm39) |
M74K |
possibly damaging |
Het |
| Plk4 |
A |
G |
3: 40,763,257 (GRCm39) |
D476G |
probably benign |
Het |
| Prox2 |
G |
A |
12: 85,141,766 (GRCm39) |
Q146* |
probably null |
Het |
| Rab44 |
A |
T |
17: 29,364,277 (GRCm39) |
Y617F |
unknown |
Het |
| Rabepk |
T |
C |
2: 34,675,627 (GRCm39) |
R168G |
probably benign |
Het |
| Rbmyf9 |
T |
A |
Y: 3,775,370 (GRCm39) |
M40K |
possibly damaging |
Het |
| Rif1 |
T |
G |
2: 52,000,466 (GRCm39) |
S1307A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,265,467 (GRCm39) |
V542I |
probably benign |
Het |
| Rtp1 |
A |
G |
16: 23,250,159 (GRCm39) |
I175V |
possibly damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,304,225 (GRCm39) |
I158F |
probably damaging |
Het |
| Slc24a3 |
T |
G |
2: 145,455,548 (GRCm39) |
M479R |
probably damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,668,589 (GRCm39) |
F723S |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,927,134 (GRCm39) |
N93K |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,057,599 (GRCm39) |
Q846R |
probably damaging |
Het |
| Tas2r116 |
A |
C |
6: 132,833,140 (GRCm39) |
H247P |
probably benign |
Het |
| Tcstv3 |
T |
C |
13: 120,779,130 (GRCm39) |
S10P |
probably damaging |
Het |
| Tgm7 |
T |
C |
2: 120,934,606 (GRCm39) |
N124S |
probably benign |
Het |
| Tmem219 |
A |
T |
7: 126,490,933 (GRCm39) |
Y175N |
probably damaging |
Het |
| Tnfrsf18 |
G |
A |
4: 156,112,484 (GRCm39) |
G114S |
possibly damaging |
Het |
| Trim38 |
G |
A |
13: 23,966,688 (GRCm39) |
C45Y |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,032,404 (GRCm39) |
E668G |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,148,450 (GRCm39) |
M382K |
|
Het |
| Vps39 |
T |
C |
2: 120,155,179 (GRCm39) |
E549G |
possibly damaging |
Het |
| Wdr35 |
G |
A |
12: 9,078,014 (GRCm39) |
G1135D |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,548 (GRCm39) |
L388P |
probably benign |
Het |
| Zdhhc25 |
T |
A |
15: 88,485,307 (GRCm39) |
M214K |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,602,936 (GRCm39) |
E627K |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGATGGTGCCACATTCTAG -3'
(R):5'- TGCAAACCTCAGGGCTTATC -3'
Sequencing Primer
(F):5'- GGTGCCACATTCTAGAACCATTG -3'
(R):5'- AAACCTCAGGGCTTATCTCCTTAAGG -3'
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| Posted On |
2022-08-09 |
Incidental Mutation