Incidental Mutation 'R4012:Nlrc5'
| ID |
475080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc5
|
| Ensembl Gene |
ENSMUSG00000074151 |
| Gene Name |
NLR family, CARD domain containing 5 |
| Synonyms |
AI451557 |
| MMRRC Submission |
040949-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4012 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95202620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 240
(Y240C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053085]
[ENSMUST00000182409]
[ENSMUST00000211816]
|
| AlphaFold |
C3VPR6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053085
AA Change: Y240C
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: Y240C
| 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 |
probably benign
Transcript: ENSMUST00000182409
AA Change: Y240C
PolyPhen 2
Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211816
AA Change: Y240C
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.0%
|
| Validation Efficiency |
100% (79/79) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
G |
T |
18: 80,174,036 (GRCm39) |
F124L |
probably benign |
Het |
| Aicda |
A |
G |
6: 122,536,449 (GRCm39) |
K10E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,226,575 (GRCm39) |
C910R |
probably benign |
Het |
| Ankrd11 |
T |
A |
8: 123,619,156 (GRCm39) |
K1565N |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,308,909 (GRCm39) |
D63G |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,764,187 (GRCm39) |
C1148R |
possibly damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,694,629 (GRCm39) |
D102G |
probably damaging |
Het |
| Babam2 |
T |
C |
5: 32,158,782 (GRCm39) |
V244A |
probably damaging |
Het |
| Brd10 |
T |
G |
19: 29,720,990 (GRCm39) |
K622N |
probably damaging |
Het |
| Cars1 |
G |
A |
7: 143,113,411 (GRCm39) |
A668V |
possibly damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,100,129 (GRCm39) |
D323G |
possibly damaging |
Het |
| Ccdc185 |
T |
A |
1: 182,576,453 (GRCm39) |
S79C |
possibly damaging |
Het |
| Ccdc88b |
G |
C |
19: 6,826,359 (GRCm39) |
R1119G |
probably damaging |
Het |
| Cebpz |
A |
T |
17: 79,231,896 (GRCm39) |
V810E |
probably damaging |
Het |
| Cep120 |
T |
C |
18: 53,871,654 (GRCm39) |
T73A |
probably damaging |
Het |
| Chat |
C |
A |
14: 32,145,269 (GRCm39) |
C380F |
possibly damaging |
Het |
| Cltc |
T |
C |
11: 86,648,087 (GRCm39) |
Q10R |
probably benign |
Het |
| Cripto |
C |
T |
9: 110,769,781 (GRCm39) |
M169I |
probably benign |
Het |
| Cst8 |
T |
C |
2: 148,646,622 (GRCm39) |
|
probably benign |
Het |
| Cts3 |
C |
T |
13: 61,715,868 (GRCm39) |
|
probably null |
Het |
| Cyp4a29 |
T |
A |
4: 115,105,707 (GRCm39) |
D136E |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,286,297 (GRCm39) |
|
probably null |
Het |
| Dsg4 |
T |
A |
18: 20,584,919 (GRCm39) |
V211E |
possibly damaging |
Het |
| Efcab5 |
C |
T |
11: 77,008,656 (GRCm39) |
V957I |
probably damaging |
Het |
| Eif4g2 |
A |
T |
7: 110,673,358 (GRCm39) |
L807Q |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,366,731 (GRCm39) |
|
probably benign |
Het |
| Epm2aip1 |
A |
T |
9: 111,101,458 (GRCm39) |
I144F |
probably benign |
Het |
| Erbb4 |
C |
T |
1: 68,599,735 (GRCm39) |
R114H |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam170a |
C |
T |
18: 50,415,038 (GRCm39) |
A228V |
probably damaging |
Het |
| Foxred1 |
A |
T |
9: 35,117,571 (GRCm39) |
M254K |
possibly damaging |
Het |
| Gm1527 |
T |
A |
3: 28,952,969 (GRCm39) |
C90S |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,947 (GRCm39) |
T370A |
probably benign |
Het |
| Gtf2e2 |
A |
G |
8: 34,245,993 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
A |
T |
8: 26,445,817 (GRCm39) |
L359* |
probably null |
Het |
| Hhip |
A |
T |
8: 80,719,223 (GRCm39) |
C435S |
probably damaging |
Het |
| Hoxa13 |
T |
C |
6: 52,236,107 (GRCm39) |
D310G |
possibly damaging |
Het |
| Hspa14 |
T |
C |
2: 3,513,675 (GRCm39) |
Y18C |
probably damaging |
Het |
| Ighg1 |
A |
G |
12: 113,293,270 (GRCm39) |
V140A |
probably damaging |
Het |
| Ighv1-58 |
A |
T |
12: 115,275,930 (GRCm39) |
Y69* |
probably null |
Het |
| Inpp5j |
A |
G |
11: 3,450,185 (GRCm39) |
F615L |
probably benign |
Het |
| Kcna1 |
T |
A |
6: 126,619,873 (GRCm39) |
Y149F |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,625,877 (GRCm39) |
|
probably null |
Het |
| Krtap4-1 |
G |
T |
11: 99,518,637 (GRCm39) |
C124* |
probably null |
Het |
| Lama1 |
T |
A |
17: 68,119,368 (GRCm39) |
L2615* |
probably null |
Het |
| Lcp2 |
A |
T |
11: 34,018,439 (GRCm39) |
I72F |
probably damaging |
Het |
| Med1 |
T |
A |
11: 98,062,532 (GRCm39) |
I189F |
possibly damaging |
Het |
| Meioc |
C |
T |
11: 102,566,654 (GRCm39) |
R757C |
probably damaging |
Het |
| Mtr |
T |
A |
13: 12,204,283 (GRCm39) |
H1171L |
probably damaging |
Het |
| Mtr |
G |
C |
13: 12,204,284 (GRCm39) |
H1171D |
probably damaging |
Het |
| Naa12 |
A |
G |
18: 80,255,339 (GRCm39) |
D211G |
probably benign |
Het |
| Nsun4 |
T |
A |
4: 115,908,259 (GRCm39) |
H767L |
possibly damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,064,189 (GRCm39) |
N284K |
probably benign |
Het |
| Pcdhgb8 |
A |
C |
18: 37,896,414 (GRCm39) |
S495R |
probably benign |
Het |
| Pramel1 |
T |
A |
4: 143,123,260 (GRCm39) |
I79N |
possibly damaging |
Het |
| Prdm6 |
A |
T |
18: 53,673,390 (GRCm39) |
E183D |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,254,740 (GRCm39) |
F1125L |
probably benign |
Het |
| Prkg2 |
T |
C |
5: 99,127,674 (GRCm39) |
I346V |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,002,584 (GRCm39) |
D1558G |
probably damaging |
Het |
| Pttg1ip2 |
A |
C |
5: 5,528,955 (GRCm39) |
L20R |
probably damaging |
Het |
| Qng1 |
T |
A |
13: 58,529,800 (GRCm39) |
K271* |
probably null |
Het |
| Rab11fip3 |
GCTCGTCT |
GCT |
17: 26,287,002 (GRCm39) |
|
probably null |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| S100a6 |
A |
G |
3: 90,521,508 (GRCm39) |
D50G |
probably damaging |
Het |
| Shroom3 |
T |
A |
5: 93,096,342 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,388,556 (GRCm39) |
V261M |
possibly damaging |
Het |
| Slc5a4b |
T |
A |
10: 75,910,826 (GRCm39) |
I337F |
probably damaging |
Het |
| Smarcc1 |
A |
G |
9: 109,961,273 (GRCm39) |
Y30C |
possibly damaging |
Het |
| Swap70 |
A |
G |
7: 109,880,512 (GRCm39) |
K576E |
possibly damaging |
Het |
| Syt6 |
A |
G |
3: 103,532,809 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,241,097 (GRCm39) |
I1726V |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,987,651 (GRCm39) |
K453E |
possibly damaging |
Het |
| Tmem38b |
A |
G |
4: 53,854,409 (GRCm39) |
I214V |
probably benign |
Het |
| Tonsl |
A |
T |
15: 76,521,244 (GRCm39) |
I354N |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,903,472 (GRCm39) |
I303V |
possibly damaging |
Het |
| Trim66 |
A |
G |
7: 109,057,338 (GRCm39) |
S1032P |
probably damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,756,590 (GRCm39) |
V6A |
probably benign |
Het |
| Ubtd2 |
A |
G |
11: 32,449,260 (GRCm39) |
K36E |
probably benign |
Het |
| Zkscan2 |
T |
C |
7: 123,097,883 (GRCm39) |
E171G |
possibly damaging |
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 |
|
|
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 |
|
R9058:Nlrc5
|
UTSW |
8 |
95,238,938 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation