Incidental Mutation 'R2327:Nlrc3'
| ID |
245730 |
| 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 |
040318-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R2327 (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 T
at 3771304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 196
(L196Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137325
(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 damaging
Transcript: ENSMUST00000177551
AA Change: L901Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: L901Q
| 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 damaging
Transcript: ENSMUST00000180200
AA Change: L196Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871
AA Change: L196Q
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
T |
14: 64,208,569 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
T |
G |
4: 111,383,798 (GRCm39) |
S218A |
probably benign |
Het |
| Apol11b |
T |
C |
15: 77,522,153 (GRCm39) |
E48G |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,419,666 (GRCm39) |
N676K |
probably benign |
Het |
| Capn5 |
T |
A |
7: 97,775,574 (GRCm39) |
S456C |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,600,161 (GRCm39) |
Y590C |
probably damaging |
Het |
| Ccdc188 |
G |
T |
16: 18,037,070 (GRCm39) |
G283W |
probably damaging |
Het |
| Cd69 |
A |
G |
6: 129,248,351 (GRCm39) |
V45A |
probably damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,771 (GRCm39) |
|
probably benign |
Het |
| Cyb561a3 |
A |
T |
19: 10,564,166 (GRCm39) |
T169S |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,527,397 (GRCm39) |
I248L |
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,947,344 (GRCm39) |
T236A |
possibly damaging |
Het |
| Efs |
A |
G |
14: 55,154,961 (GRCm39) |
V426A |
probably benign |
Het |
| Eme2 |
A |
G |
17: 25,113,157 (GRCm39) |
L136S |
probably damaging |
Het |
| Fastkd1 |
T |
A |
2: 69,535,872 (GRCm39) |
K312* |
probably null |
Het |
| Fbxl12 |
A |
G |
9: 20,553,530 (GRCm39) |
L19P |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,110,913 (GRCm39) |
Y980* |
probably null |
Het |
| Fscn2 |
T |
A |
11: 120,257,527 (GRCm39) |
I296N |
probably damaging |
Het |
| Gabrg3 |
A |
G |
7: 56,384,835 (GRCm39) |
V242A |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,817,315 (GRCm39) |
H368R |
probably damaging |
Het |
| Gm12695 |
C |
T |
4: 96,657,893 (GRCm39) |
S92N |
probably benign |
Het |
| Gpalpp1 |
A |
T |
14: 76,336,031 (GRCm39) |
S196T |
probably benign |
Het |
| Gpld1 |
A |
T |
13: 25,168,804 (GRCm39) |
M773L |
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,708,289 (GRCm39) |
|
probably null |
Het |
| Hirip3 |
A |
G |
7: 126,462,038 (GRCm39) |
R19G |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,405,247 (GRCm39) |
T92A |
probably damaging |
Het |
| Irgm2 |
A |
G |
11: 58,111,218 (GRCm39) |
D303G |
probably damaging |
Het |
| Kpna2rt |
C |
A |
17: 90,217,697 (GRCm39) |
R16S |
probably benign |
Het |
| Krtap5-2 |
T |
G |
7: 141,728,748 (GRCm39) |
S311R |
unknown |
Het |
| Krtdap |
T |
A |
7: 30,489,185 (GRCm39) |
|
probably null |
Het |
| Lce1g |
G |
T |
3: 92,658,140 (GRCm39) |
S56Y |
unknown |
Het |
| Lrrn1 |
G |
A |
6: 107,545,794 (GRCm39) |
V531I |
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,861,358 (GRCm39) |
E429G |
probably damaging |
Het |
| Mrgpra2b |
T |
G |
7: 47,113,793 (GRCm39) |
D287A |
probably damaging |
Het |
| Mterf3 |
T |
C |
13: 67,076,258 (GRCm39) |
T150A |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,014,725 (GRCm39) |
N506S |
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,963,313 (GRCm39) |
V1085L |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,687,048 (GRCm39) |
N51S |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,074,747 (GRCm39) |
N816I |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,767,700 (GRCm39) |
V218A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,189,673 (GRCm39) |
E339G |
possibly damaging |
Het |
| Or10ak14 |
C |
T |
4: 118,611,331 (GRCm39) |
V135I |
probably benign |
Het |
| Or51b6b |
A |
G |
7: 103,309,779 (GRCm39) |
V226A |
probably damaging |
Het |
| Or8j3c |
A |
T |
2: 86,253,165 (GRCm39) |
L285* |
probably null |
Het |
| Pik3ap1 |
A |
G |
19: 41,284,828 (GRCm39) |
I619T |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,759,118 (GRCm39) |
D118G |
probably benign |
Het |
| Ppat |
T |
C |
5: 77,070,314 (GRCm39) |
D168G |
possibly damaging |
Het |
| Preb |
T |
C |
5: 31,115,849 (GRCm39) |
E198G |
probably damaging |
Het |
| Psg21 |
T |
C |
7: 18,386,378 (GRCm39) |
T203A |
possibly damaging |
Het |
| Rbm17 |
A |
G |
2: 11,602,942 (GRCm39) |
V54A |
probably damaging |
Het |
| Rgma |
T |
A |
7: 73,067,574 (GRCm39) |
D276E |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,439,471 (GRCm39) |
L77P |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scarf1 |
A |
C |
11: 75,416,854 (GRCm39) |
E765D |
probably damaging |
Het |
| Scart1 |
A |
T |
7: 139,803,890 (GRCm39) |
N363Y |
possibly damaging |
Het |
| Sec14l4 |
G |
A |
11: 3,990,041 (GRCm39) |
M113I |
probably benign |
Het |
| Senp1 |
C |
T |
15: 97,980,165 (GRCm39) |
C60Y |
probably damaging |
Het |
| Slc22a21 |
T |
A |
11: 53,842,130 (GRCm39) |
K549N |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,947,004 (GRCm39) |
M684T |
probably damaging |
Het |
| Spns1 |
T |
C |
7: 125,969,958 (GRCm39) |
T481A |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,668,666 (GRCm39) |
Y198C |
possibly damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,402,833 (GRCm39) |
V210E |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,893,475 (GRCm39) |
E1604K |
possibly damaging |
Het |
| Tspan31 |
T |
C |
10: 126,904,365 (GRCm39) |
D143G |
probably benign |
Het |
| Tspan5 |
T |
A |
3: 138,603,903 (GRCm39) |
Y131* |
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,795,189 (GRCm39) |
D1070G |
probably damaging |
Het |
| Vmn2r26 |
C |
T |
6: 124,016,708 (GRCm39) |
P391S |
probably benign |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,464 (GRCm39) |
I700T |
probably damaging |
Het |
| Vps13c |
A |
C |
9: 67,821,102 (GRCm39) |
N1204T |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
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 |
|
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'- GTTGCTGATAGATCCCAGGTGTC -3'
(R):5'- TAGCTGGAAGAGGCTCCTTC -3'
Sequencing Primer
(F):5'- GATAGATCCCAGGTGTCCTTGC -3'
(R):5'- CACATTTTGTCCTAGGAGTCCAAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation