Incidental Mutation 'R5126:Nlrc5'
| ID |
393552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc5
|
| Ensembl Gene |
ENSMUSG00000074151 |
| Gene Name |
NLR family, CARD domain containing 5 |
| Synonyms |
AI451557 |
| MMRRC Submission |
042714-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5126 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 95201299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 131
(R131L)
|
| 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: R131L
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: R131L
| 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: ENSMUST00000182409
AA Change: R131L
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211816
AA Change: R131L
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212382
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
G |
A |
2: 26,886,927 (GRCm39) |
|
probably null |
Het |
| Ahdc1 |
T |
A |
4: 132,790,833 (GRCm39) |
F691L |
probably benign |
Het |
| Ahsa2 |
T |
A |
11: 23,441,036 (GRCm39) |
I202F |
possibly damaging |
Het |
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cep164 |
A |
G |
9: 45,698,722 (GRCm39) |
|
probably null |
Het |
| Cltc |
A |
G |
11: 86,603,495 (GRCm39) |
V781A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,402,724 (GRCm39) |
S3273P |
probably damaging |
Het |
| Dnajc16 |
C |
A |
4: 141,501,820 (GRCm39) |
V337L |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 53,077,388 (GRCm39) |
V715A |
possibly damaging |
Het |
| Grik1 |
C |
T |
16: 87,744,747 (GRCm39) |
G502S |
probably damaging |
Het |
| Ifi213 |
A |
G |
1: 173,417,581 (GRCm39) |
V277A |
possibly damaging |
Het |
| Ints15 |
G |
T |
5: 143,293,701 (GRCm39) |
P259T |
probably benign |
Het |
| Jph3 |
T |
C |
8: 122,479,787 (GRCm39) |
V155A |
possibly damaging |
Het |
| Katnal2 |
T |
C |
18: 77,105,294 (GRCm39) |
E51G |
probably benign |
Het |
| Kcna2 |
T |
A |
3: 107,011,550 (GRCm39) |
F44I |
probably damaging |
Het |
| Kcna6 |
T |
C |
6: 126,715,695 (GRCm39) |
E398G |
probably damaging |
Het |
| Kif15 |
A |
T |
9: 122,804,823 (GRCm39) |
H190L |
probably damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,194,788 (GRCm39) |
R597G |
possibly damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,294,400 (GRCm39) |
M244L |
probably benign |
Het |
| Ly6c2 |
A |
C |
15: 74,983,492 (GRCm39) |
S9A |
possibly damaging |
Het |
| Mbd4 |
T |
A |
6: 115,825,929 (GRCm39) |
|
probably null |
Het |
| Mfsd2b |
A |
G |
12: 4,916,183 (GRCm39) |
I269T |
probably benign |
Het |
| Muc6 |
A |
T |
7: 141,237,564 (GRCm39) |
C218S |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,072,359 (GRCm39) |
C495S |
possibly damaging |
Het |
| Nsf |
C |
A |
11: 103,773,618 (GRCm39) |
E299* |
probably null |
Het |
| Obscn |
T |
A |
11: 58,967,889 (GRCm39) |
E336D |
probably damaging |
Het |
| Or14j9 |
G |
T |
17: 37,874,719 (GRCm39) |
T161K |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,464,008 (GRCm39) |
N587S |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,340,614 (GRCm39) |
I666T |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,976 (GRCm39) |
D321G |
probably damaging |
Het |
| Plscr4 |
G |
A |
9: 92,370,794 (GRCm39) |
D254N |
probably damaging |
Het |
| Pnma8a |
A |
C |
7: 16,695,242 (GRCm39) |
M366L |
probably benign |
Het |
| Pnpla7 |
G |
T |
2: 24,870,056 (GRCm39) |
C12F |
possibly damaging |
Het |
| Ptprk |
G |
T |
10: 28,451,640 (GRCm39) |
|
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,040,790 (GRCm39) |
V899A |
probably damaging |
Het |
| Ruvbl1 |
T |
A |
6: 88,462,883 (GRCm39) |
C336S |
probably benign |
Het |
| Slc27a5 |
T |
A |
7: 12,725,247 (GRCm39) |
H400L |
probably damaging |
Het |
| Slc66a1 |
T |
C |
4: 139,029,843 (GRCm39) |
T63A |
probably benign |
Het |
| Slco1a4 |
A |
T |
6: 141,761,308 (GRCm39) |
V435D |
possibly damaging |
Het |
| Snx14 |
A |
T |
9: 88,264,152 (GRCm39) |
Y818N |
probably damaging |
Het |
| Tln2 |
A |
G |
9: 67,165,817 (GRCm39) |
I2098T |
probably damaging |
Het |
| Tlr11 |
T |
C |
14: 50,598,287 (GRCm39) |
L91P |
probably damaging |
Het |
| Tmem208 |
T |
A |
8: 106,061,282 (GRCm39) |
F103I |
probably benign |
Het |
| Vmn2r3 |
C |
T |
3: 64,166,740 (GRCm39) |
C797Y |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,187,259 (GRCm39) |
M743L |
probably benign |
Het |
| Wdcp |
C |
A |
12: 4,900,617 (GRCm39) |
R158S |
probably damaging |
Het |
| Zfp773 |
T |
C |
7: 7,139,623 (GRCm39) |
T9A |
unknown |
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 |
|
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 |
PCR Primer
(F):5'- AGCCTTCTCACAACCCTAGG -3'
(R):5'- TCCCACAAGCTTGAGGACAG -3'
Sequencing Primer
(F):5'- AGGGTGTCTCATACTTCTCTGC -3'
(R):5'- GCCTAGATGACAAATCTGCCCTTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation