Incidental Mutation 'R9058:Nlrc5'
ID |
688819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrc5
|
Ensembl Gene |
ENSMUSG00000074151 |
Gene Name |
NLR family, CARD domain containing 5 |
Synonyms |
AI451557 |
MMRRC Submission |
068884-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9058 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 95238938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 1459
(T1459S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138322
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053085]
[ENSMUST00000211816]
|
AlphaFold |
C3VPR6 |
PDB Structure |
The solution NMR structure of the NLRC5 caspase recruitment domain (CARD) [SOLUTION NMR]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053085
AA Change: T1459S
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138322 Gene: ENSMUSG00000074151 AA Change: T1459S
Domain | Start | End | E-Value | Type |
low complexity region
|
136 |
151 |
N/A |
INTRINSIC |
Pfam:NACHT
|
223 |
386 |
1.8e-32 |
PFAM |
LRR
|
716 |
743 |
6.89e1 |
SMART |
LRR
|
744 |
771 |
9.86e1 |
SMART |
LRR
|
772 |
796 |
1.22e2 |
SMART |
LRR
|
844 |
870 |
2.16e2 |
SMART |
LRR
|
871 |
898 |
1.76e-1 |
SMART |
LRR
|
1006 |
1033 |
1.9e0 |
SMART |
LRR
|
1034 |
1061 |
4.51e1 |
SMART |
low complexity region
|
1141 |
1169 |
N/A |
INTRINSIC |
LRR
|
1240 |
1267 |
2.67e1 |
SMART |
LRR
|
1273 |
1295 |
1.22e1 |
SMART |
low complexity region
|
1341 |
1351 |
N/A |
INTRINSIC |
LRR
|
1519 |
1546 |
5.48e1 |
SMART |
LRR
|
1547 |
1574 |
3.36e1 |
SMART |
LRR
|
1575 |
1602 |
1.69e1 |
SMART |
LRR
|
1603 |
1630 |
8.99e-1 |
SMART |
LRR
|
1631 |
1654 |
5.26e0 |
SMART |
LRR
|
1659 |
1686 |
2.81e0 |
SMART |
LRR
|
1687 |
1714 |
1.6e-4 |
SMART |
LRR
|
1715 |
1742 |
1.06e0 |
SMART |
LRR
|
1743 |
1768 |
8e0 |
SMART |
LRR
|
1793 |
1820 |
2.06e1 |
SMART |
LRR
|
1821 |
1848 |
5.42e-2 |
SMART |
LRR
|
1849 |
1876 |
3.54e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211816
AA Change: T1459S
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal cytokine production induced by virus and bacteria infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox1 |
T |
C |
11: 116,080,268 (GRCm39) |
T135A |
possibly damaging |
Het |
Adrm1b |
A |
T |
3: 92,335,559 (GRCm39) |
M283K |
probably benign |
Het |
Aldh8a1 |
T |
C |
10: 21,258,344 (GRCm39) |
I147T |
possibly damaging |
Het |
Alkbh5 |
T |
C |
11: 60,444,548 (GRCm39) |
L288S |
probably benign |
Het |
Bpifb5 |
A |
G |
2: 154,080,817 (GRCm39) |
D478G |
possibly damaging |
Het |
Cacna1s |
A |
T |
1: 135,998,436 (GRCm39) |
K155* |
probably null |
Het |
Ccser1 |
T |
C |
6: 61,350,976 (GRCm39) |
L511P |
probably damaging |
Het |
Cebpz |
A |
T |
17: 79,243,227 (GRCm39) |
N142K |
probably benign |
Het |
Cfap299 |
A |
T |
5: 98,932,400 (GRCm39) |
D200V |
probably damaging |
Het |
Clip1 |
G |
T |
5: 123,752,645 (GRCm39) |
R379S |
|
Het |
Cpne8 |
T |
A |
15: 90,381,276 (GRCm39) |
I513F |
probably damaging |
Het |
Ctnnb1 |
T |
A |
9: 120,780,476 (GRCm39) |
C213* |
probably null |
Het |
Dnah7b |
A |
G |
1: 46,282,575 (GRCm39) |
K2903E |
probably damaging |
Het |
Dnah7c |
G |
T |
1: 46,805,816 (GRCm39) |
G3422W |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,333,270 (GRCm39) |
H247Q |
probably benign |
Het |
Efna2 |
A |
G |
10: 80,022,720 (GRCm39) |
Y88C |
probably damaging |
Het |
Eppk1 |
C |
T |
15: 75,992,265 (GRCm39) |
G1539R |
probably benign |
Het |
Exoc3l2 |
A |
T |
7: 19,203,821 (GRCm39) |
K138* |
probably null |
Het |
Fam47e |
A |
G |
5: 92,719,367 (GRCm39) |
|
probably benign |
Het |
Frmpd1 |
T |
A |
4: 45,283,948 (GRCm39) |
M923K |
probably damaging |
Het |
Gbe1 |
A |
G |
16: 70,324,059 (GRCm39) |
E558G |
possibly damaging |
Het |
Gm5431 |
T |
C |
11: 48,786,049 (GRCm39) |
T109A |
probably benign |
Het |
Gm9508 |
G |
A |
10: 77,532,620 (GRCm39) |
P150S |
unknown |
Het |
Grep1 |
T |
C |
17: 23,935,016 (GRCm39) |
N63S |
probably benign |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Hrob |
T |
C |
11: 102,146,386 (GRCm39) |
S221P |
probably benign |
Het |
Hsfy2 |
A |
T |
1: 56,676,504 (GRCm39) |
V11D |
probably benign |
Het |
Kif13a |
T |
C |
13: 46,944,941 (GRCm39) |
N887D |
probably damaging |
Het |
Kirrel1 |
A |
G |
3: 86,992,442 (GRCm39) |
V541A |
probably benign |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Lamc3 |
G |
A |
2: 31,798,653 (GRCm39) |
R453H |
probably benign |
Het |
Mideas |
A |
G |
12: 84,220,642 (GRCm39) |
M104T |
probably damaging |
Het |
Muc6 |
G |
C |
7: 141,218,154 (GRCm39) |
T2173S |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,075,341 (GRCm39) |
N208S |
probably benign |
Het |
Npy1r |
T |
C |
8: 67,156,600 (GRCm39) |
S7P |
probably benign |
Het |
Nr4a2 |
T |
C |
2: 57,002,255 (GRCm39) |
N66S |
probably benign |
Het |
Nr5a1 |
T |
C |
2: 38,584,034 (GRCm39) |
T462A |
probably damaging |
Het |
Ntng2 |
A |
G |
2: 29,094,202 (GRCm39) |
C390R |
probably benign |
Het |
Or4p23 |
A |
C |
2: 88,577,030 (GRCm39) |
D67E |
|
Het |
Or5b119 |
G |
A |
19: 13,456,956 (GRCm39) |
T202I |
possibly damaging |
Het |
Or7g12 |
T |
A |
9: 18,900,222 (GRCm39) |
*313R |
probably null |
Het |
Pecam1 |
G |
T |
11: 106,590,675 (GRCm39) |
P33Q |
probably damaging |
Het |
Phc2 |
T |
A |
4: 128,616,769 (GRCm39) |
F347L |
probably benign |
Het |
Phldb2 |
T |
A |
16: 45,592,604 (GRCm39) |
H938L |
possibly damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Prkch |
G |
T |
12: 73,822,308 (GRCm39) |
|
probably null |
Het |
Prr5 |
A |
G |
15: 84,641,241 (GRCm39) |
N169S |
probably benign |
Het |
Puf60 |
C |
T |
15: 75,942,425 (GRCm39) |
D483N |
probably benign |
Het |
Puf60 |
C |
T |
15: 75,944,382 (GRCm39) |
M133I |
probably benign |
Het |
Rmnd1 |
T |
C |
10: 4,363,398 (GRCm39) |
H284R |
probably benign |
Het |
Scaper |
T |
C |
9: 55,722,762 (GRCm39) |
E682G |
probably damaging |
Het |
Sds |
A |
G |
5: 120,618,779 (GRCm39) |
E111G |
possibly damaging |
Het |
Sec23b |
T |
A |
2: 144,424,010 (GRCm39) |
I553N |
probably damaging |
Het |
Serpina1a |
A |
T |
12: 103,820,001 (GRCm39) |
I415K |
possibly damaging |
Het |
Slc14a1 |
T |
A |
18: 78,145,785 (GRCm39) |
|
probably null |
Het |
Socs1 |
G |
A |
16: 10,602,692 (GRCm39) |
P15L |
probably benign |
Het |
Sv2b |
A |
T |
7: 74,789,822 (GRCm39) |
|
probably null |
Het |
Sync |
T |
C |
4: 129,187,217 (GRCm39) |
I83T |
probably damaging |
Het |
Syt16 |
T |
A |
12: 74,282,019 (GRCm39) |
L381Q |
probably damaging |
Het |
Tbx20 |
T |
C |
9: 24,681,019 (GRCm39) |
R158G |
probably damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tmem19 |
C |
A |
10: 115,198,031 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
A |
C |
1: 14,959,618 (GRCm39) |
N689K |
probably damaging |
Het |
Ube3b |
C |
A |
5: 114,553,300 (GRCm39) |
H891N |
probably benign |
Het |
Vmn2r19 |
T |
A |
6: 123,313,021 (GRCm39) |
M697K |
possibly damaging |
Het |
Zfp142 |
A |
T |
1: 74,608,955 (GRCm39) |
C1613* |
probably null |
Het |
Zfp7 |
T |
A |
15: 76,764,981 (GRCm39) |
M1K |
probably null |
Het |
Zfp936 |
A |
T |
7: 42,839,196 (GRCm39) |
Q221L |
probably benign |
Het |
|
Other mutations in Nlrc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Nlrc5
|
APN |
8 |
95,228,839 (GRCm39) |
splice site |
probably benign |
|
IGL00232:Nlrc5
|
APN |
8 |
95,211,251 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00324:Nlrc5
|
APN |
8 |
95,248,107 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02715:Nlrc5
|
APN |
8 |
95,201,296 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02992:Nlrc5
|
APN |
8 |
95,233,201 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03095:Nlrc5
|
APN |
8 |
95,248,536 (GRCm39) |
splice site |
probably benign |
|
IGL03389:Nlrc5
|
APN |
8 |
95,248,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03406:Nlrc5
|
APN |
8 |
95,203,483 (GRCm39) |
missense |
probably benign |
0.01 |
cassis
|
UTSW |
8 |
95,203,021 (GRCm39) |
nonsense |
probably null |
|
cowberry
|
UTSW |
8 |
95,218,153 (GRCm39) |
missense |
possibly damaging |
0.83 |
lingon
|
UTSW |
8 |
95,208,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R0037:Nlrc5
|
UTSW |
8 |
95,216,163 (GRCm39) |
missense |
probably benign |
0.00 |
R0048:Nlrc5
|
UTSW |
8 |
95,201,284 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0092:Nlrc5
|
UTSW |
8 |
95,216,222 (GRCm39) |
splice site |
probably benign |
|
R0506:Nlrc5
|
UTSW |
8 |
95,219,753 (GRCm39) |
splice site |
probably benign |
|
R0548:Nlrc5
|
UTSW |
8 |
95,248,411 (GRCm39) |
missense |
probably null |
0.09 |
R2014:Nlrc5
|
UTSW |
8 |
95,252,138 (GRCm39) |
splice site |
probably benign |
|
R3051:Nlrc5
|
UTSW |
8 |
95,203,343 (GRCm39) |
missense |
probably benign |
0.01 |
R3776:Nlrc5
|
UTSW |
8 |
95,199,467 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3837:Nlrc5
|
UTSW |
8 |
95,237,929 (GRCm39) |
splice site |
probably benign |
|
R4012:Nlrc5
|
UTSW |
8 |
95,202,620 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4367:Nlrc5
|
UTSW |
8 |
95,203,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R4400:Nlrc5
|
UTSW |
8 |
95,220,981 (GRCm39) |
missense |
probably benign |
0.08 |
R4469:Nlrc5
|
UTSW |
8 |
95,247,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R4561:Nlrc5
|
UTSW |
8 |
95,203,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R4584:Nlrc5
|
UTSW |
8 |
95,203,903 (GRCm39) |
missense |
probably damaging |
0.96 |
R4758:Nlrc5
|
UTSW |
8 |
95,238,956 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4834:Nlrc5
|
UTSW |
8 |
95,232,113 (GRCm39) |
missense |
probably benign |
0.00 |
R4896:Nlrc5
|
UTSW |
8 |
95,247,844 (GRCm39) |
unclassified |
probably benign |
|
R5004:Nlrc5
|
UTSW |
8 |
95,247,844 (GRCm39) |
unclassified |
probably benign |
|
R5018:Nlrc5
|
UTSW |
8 |
95,252,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R5115:Nlrc5
|
UTSW |
8 |
95,203,447 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5116:Nlrc5
|
UTSW |
8 |
95,208,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R5126:Nlrc5
|
UTSW |
8 |
95,201,299 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5148:Nlrc5
|
UTSW |
8 |
95,203,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R5224:Nlrc5
|
UTSW |
8 |
95,220,944 (GRCm39) |
missense |
probably benign |
0.26 |
R5527:Nlrc5
|
UTSW |
8 |
95,217,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R5640:Nlrc5
|
UTSW |
8 |
95,202,421 (GRCm39) |
missense |
probably benign |
0.02 |
R5705:Nlrc5
|
UTSW |
8 |
95,202,385 (GRCm39) |
missense |
probably benign |
0.00 |
R5778:Nlrc5
|
UTSW |
8 |
95,206,154 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5830:Nlrc5
|
UTSW |
8 |
95,199,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R5850:Nlrc5
|
UTSW |
8 |
95,247,675 (GRCm39) |
missense |
probably benign |
0.00 |
R5978:Nlrc5
|
UTSW |
8 |
95,215,221 (GRCm39) |
missense |
probably damaging |
0.98 |
R6335:Nlrc5
|
UTSW |
8 |
95,228,902 (GRCm39) |
missense |
probably benign |
0.01 |
R6372:Nlrc5
|
UTSW |
8 |
95,206,378 (GRCm39) |
missense |
probably damaging |
0.98 |
R6486:Nlrc5
|
UTSW |
8 |
95,247,927 (GRCm39) |
splice site |
probably null |
|
R6765:Nlrc5
|
UTSW |
8 |
95,216,996 (GRCm39) |
missense |
probably benign |
0.20 |
R6861:Nlrc5
|
UTSW |
8 |
95,247,857 (GRCm39) |
unclassified |
probably benign |
|
R6869:Nlrc5
|
UTSW |
8 |
95,248,583 (GRCm39) |
missense |
probably benign |
0.00 |
R7134:Nlrc5
|
UTSW |
8 |
95,206,350 (GRCm39) |
missense |
probably damaging |
0.99 |
R7204:Nlrc5
|
UTSW |
8 |
95,218,153 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7231:Nlrc5
|
UTSW |
8 |
95,248,433 (GRCm39) |
critical splice donor site |
probably null |
|
R7309:Nlrc5
|
UTSW |
8 |
95,200,670 (GRCm39) |
missense |
probably benign |
0.01 |
R7368:Nlrc5
|
UTSW |
8 |
95,203,021 (GRCm39) |
nonsense |
probably null |
|
R7497:Nlrc5
|
UTSW |
8 |
95,248,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R7606:Nlrc5
|
UTSW |
8 |
95,203,745 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7611:Nlrc5
|
UTSW |
8 |
95,239,276 (GRCm39) |
critical splice donor site |
probably null |
|
R7685:Nlrc5
|
UTSW |
8 |
95,248,028 (GRCm39) |
splice site |
probably null |
|
R7810:Nlrc5
|
UTSW |
8 |
95,231,772 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7829:Nlrc5
|
UTSW |
8 |
95,248,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R7910:Nlrc5
|
UTSW |
8 |
95,219,720 (GRCm39) |
missense |
probably benign |
0.00 |
R7921:Nlrc5
|
UTSW |
8 |
95,214,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R8131:Nlrc5
|
UTSW |
8 |
95,208,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R8237:Nlrc5
|
UTSW |
8 |
95,252,753 (GRCm39) |
missense |
unknown |
|
R8493:Nlrc5
|
UTSW |
8 |
95,249,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R8888:Nlrc5
|
UTSW |
8 |
95,252,118 (GRCm39) |
missense |
probably benign |
0.04 |
R8964:Nlrc5
|
UTSW |
8 |
95,232,116 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9053:Nlrc5
|
UTSW |
8 |
95,217,013 (GRCm39) |
missense |
probably benign |
0.00 |
R9161:Nlrc5
|
UTSW |
8 |
95,213,274 (GRCm39) |
missense |
probably damaging |
0.97 |
R9278:Nlrc5
|
UTSW |
8 |
95,237,908 (GRCm39) |
missense |
probably benign |
0.00 |
R9285:Nlrc5
|
UTSW |
8 |
95,199,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R9405:Nlrc5
|
UTSW |
8 |
95,199,652 (GRCm39) |
missense |
probably damaging |
0.98 |
R9591:Nlrc5
|
UTSW |
8 |
95,249,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R9620:Nlrc5
|
UTSW |
8 |
95,203,034 (GRCm39) |
missense |
probably benign |
0.44 |
RF021:Nlrc5
|
UTSW |
8 |
95,203,516 (GRCm39) |
missense |
probably benign |
0.16 |
Z1088:Nlrc5
|
UTSW |
8 |
95,231,092 (GRCm39) |
missense |
possibly damaging |
0.48 |
Z1177:Nlrc5
|
UTSW |
8 |
95,233,208 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCCCAGTGGGTCTTGTAAC -3'
(R):5'- ATGCTGAACACACCTCAGGG -3'
Sequencing Primer
(F):5'- GGTCTTGTAACTGGGTAGTAAACTC -3'
(R):5'- TGACAGAAGGTCCCTCTAAGAGC -3'
|
Posted On |
2021-11-19 |