Incidental Mutation 'R7611:Nlrc5'
| ID |
588605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc5
|
| Ensembl Gene |
ENSMUSG00000074151 |
| Gene Name |
NLR family, CARD domain containing 5 |
| Synonyms |
AI451557 |
| MMRRC Submission |
045715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7611 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 95239276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably null
Transcript: ENSMUST00000053085
|
| SMART Domains |
Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
| 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 null
Transcript: ENSMUST00000211816
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,792,882 (GRCm39) |
G25S |
probably benign |
Het |
| Ahnak2 |
G |
T |
12: 112,751,749 (GRCm39) |
D35E |
|
Het |
| Birc6 |
T |
C |
17: 74,969,713 (GRCm39) |
M4261T |
probably damaging |
Het |
| Caln1 |
T |
G |
5: 130,534,918 (GRCm39) |
F45V |
probably damaging |
Het |
| Camta2 |
A |
T |
11: 70,572,372 (GRCm39) |
I313N |
possibly damaging |
Het |
| Capns1 |
T |
A |
7: 29,889,539 (GRCm39) |
E220V |
probably damaging |
Het |
| Carmil1 |
C |
A |
13: 24,197,315 (GRCm39) |
V1374L |
probably benign |
Het |
| Casp2 |
T |
G |
6: 42,250,972 (GRCm39) |
L290R |
possibly damaging |
Het |
| Cdkn2b |
C |
A |
4: 89,228,980 (GRCm39) |
V19L |
probably benign |
Het |
| Ces1c |
T |
C |
8: 93,851,139 (GRCm39) |
N162D |
probably benign |
Het |
| Cfap96 |
A |
G |
8: 46,423,488 (GRCm39) |
Y75H |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,763,017 (GRCm39) |
S2281P |
probably damaging |
Het |
| Chst13 |
T |
C |
6: 90,285,999 (GRCm39) |
D321G |
probably damaging |
Het |
| Ckap2l |
G |
T |
2: 129,127,600 (GRCm39) |
P193T |
possibly damaging |
Het |
| Clca4b |
T |
A |
3: 144,627,757 (GRCm39) |
T405S |
probably benign |
Het |
| Cmah |
T |
C |
13: 24,619,630 (GRCm39) |
V265A |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,797,191 (GRCm39) |
M396K |
probably benign |
Het |
| Ddr2 |
A |
T |
1: 169,825,727 (GRCm39) |
M291K |
possibly damaging |
Het |
| Ddx43 |
T |
A |
9: 78,309,635 (GRCm39) |
I145N |
probably benign |
Het |
| Ephb2 |
T |
A |
4: 136,388,212 (GRCm39) |
|
probably null |
Het |
| Fgfr1 |
A |
T |
8: 26,048,221 (GRCm39) |
K106* |
probably null |
Het |
| Gpr6 |
A |
G |
10: 40,946,875 (GRCm39) |
F236L |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,143,511 (GRCm39) |
S750P |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,952,459 (GRCm39) |
S925P |
probably damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Hmg20b |
T |
A |
10: 81,185,432 (GRCm39) |
|
probably benign |
Het |
| Kcnk10 |
T |
A |
12: 98,484,899 (GRCm39) |
Y79F |
probably damaging |
Het |
| Lrrc30 |
A |
T |
17: 67,939,424 (GRCm39) |
F52Y |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,036,432 (GRCm39) |
K907R |
possibly damaging |
Het |
| Mbd3 |
T |
C |
10: 80,231,352 (GRCm39) |
D63G |
probably damaging |
Het |
| Mettl21a |
C |
T |
1: 64,654,266 (GRCm39) |
A84T |
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,634,857 (GRCm39) |
D491G |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,852,387 (GRCm39) |
|
probably null |
Het |
| Myh1 |
A |
T |
11: 67,101,243 (GRCm39) |
H673L |
possibly damaging |
Het |
| Nme9 |
T |
A |
9: 99,352,843 (GRCm39) |
S264R |
probably benign |
Het |
| Nup153 |
T |
C |
13: 46,840,798 (GRCm39) |
T937A |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,482,024 (GRCm39) |
E282G |
probably damaging |
Het |
| Or1o3 |
A |
G |
17: 37,573,745 (GRCm39) |
V270A |
probably benign |
Het |
| Or2w2 |
A |
G |
13: 21,758,488 (GRCm39) |
V46A |
probably benign |
Het |
| Or4l15 |
C |
A |
14: 50,198,368 (GRCm39) |
A54S |
probably benign |
Het |
| Or5an10 |
T |
A |
19: 12,276,242 (GRCm39) |
M85L |
probably damaging |
Het |
| Or5b99 |
T |
A |
19: 12,976,431 (GRCm39) |
I27N |
possibly damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,407 (GRCm39) |
C74* |
probably null |
Het |
| Or8k30 |
T |
A |
2: 86,339,397 (GRCm39) |
I198K |
possibly damaging |
Het |
| Pcdhga12 |
T |
C |
18: 37,901,478 (GRCm39) |
F770S |
possibly damaging |
Het |
| Pfkp |
T |
A |
13: 6,655,119 (GRCm39) |
|
probably null |
Het |
| Prr29 |
C |
G |
11: 106,267,158 (GRCm39) |
H58D |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,001,219 (GRCm39) |
M1103K |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,225,651 (GRCm39) |
E250G |
probably damaging |
Het |
| Rsph4a |
C |
T |
10: 33,781,473 (GRCm39) |
P108S |
probably benign |
Het |
| Setd1b |
A |
C |
5: 123,290,657 (GRCm39) |
M875L |
unknown |
Het |
| Slc15a2 |
A |
G |
16: 36,576,673 (GRCm39) |
S485P |
probably benign |
Het |
| Smoc1 |
A |
G |
12: 81,226,444 (GRCm39) |
D423G |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,676,198 (GRCm39) |
V337D |
probably damaging |
Het |
| Spesp1 |
T |
C |
9: 62,179,987 (GRCm39) |
K307R |
possibly damaging |
Het |
| Sulf1 |
A |
G |
1: 12,906,467 (GRCm39) |
E503G |
probably benign |
Het |
| Susd6 |
T |
C |
12: 80,921,341 (GRCm39) |
Y313H |
probably damaging |
Het |
| Them4 |
A |
T |
3: 94,238,865 (GRCm39) |
D224V |
possibly damaging |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Tspear |
A |
T |
10: 77,717,049 (GRCm39) |
T575S |
probably benign |
Het |
| Usp21 |
A |
T |
1: 171,113,142 (GRCm39) |
H211Q |
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,322 (GRCm39) |
S172G |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,515,944 (GRCm39) |
S516G |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,484,255 (GRCm39) |
R648S |
probably benign |
Het |
| Vmn2r6 |
C |
A |
3: 64,472,563 (GRCm39) |
V53F |
probably damaging |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,388 (GRCm39) |
I304T |
probably benign |
Het |
| Vmn2r88 |
A |
C |
14: 51,651,454 (GRCm39) |
Y256S |
|
Het |
| Zfhx4 |
A |
T |
3: 5,468,831 (GRCm39) |
K3021N |
probably damaging |
Het |
| Zfp647 |
T |
C |
15: 76,795,988 (GRCm39) |
H224R |
probably damaging |
Het |
| Zfp865 |
A |
G |
7: 5,034,130 (GRCm39) |
E705G |
probably 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 |
|
|
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 |
|
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'- AAGCTCTTAGAGGGACCTTCTGTC -3'
(R):5'- ACAGTTGTGGGACCAGCATC -3'
Sequencing Primer
(F):5'- GGACCTTCTGTCATGGTGACC -3'
(R):5'- AGGTTTGGCTTCCATAGACACAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation