Incidental Mutation 'R9053:Nlrc5'
| ID |
688514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc5
|
| Ensembl Gene |
ENSMUSG00000074151 |
| Gene Name |
NLR family, CARD domain containing 5 |
| Synonyms |
AI451557 |
| MMRRC Submission |
068879-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9053 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95217013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 1001
(R1001G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053085]
[ENSMUST00000182409]
[ENSMUST00000211816]
|
| AlphaFold |
C3VPR6 |
| PDB Structure |
The solution NMR structure of the NLRC5 caspase recruitment domain (CARD) [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053085
AA Change: R1001G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: R1001G
| 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: R1001G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183132
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211816
AA Change: R1001G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
96% (50/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
G |
17: 13,147,402 (GRCm39) |
V205A |
probably damaging |
Het |
| Acp7 |
A |
G |
7: 28,316,616 (GRCm39) |
F120L |
possibly damaging |
Het |
| Adh4 |
T |
C |
3: 138,128,045 (GRCm39) |
V157A |
probably damaging |
Het |
| Ahsa2 |
T |
C |
11: 23,443,314 (GRCm39) |
E146G |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,822,389 (GRCm39) |
S353P |
|
Het |
| Apob |
T |
C |
12: 8,058,954 (GRCm39) |
S2479P |
possibly damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,641,760 (GRCm39) |
L203P |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,583 (GRCm39) |
N265I |
possibly damaging |
Het |
| Cfap20dc |
T |
C |
14: 8,518,768 (GRCm38) |
|
probably null |
Het |
| Dagla |
G |
A |
19: 10,246,615 (GRCm39) |
R162C |
probably damaging |
Het |
| Ddx18 |
T |
C |
1: 121,489,135 (GRCm39) |
D304G |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,618,987 (GRCm39) |
L1638Q |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,061,640 (GRCm39) |
N2815I |
possibly damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,510,371 (GRCm39) |
D94G |
probably benign |
Het |
| Epor |
G |
T |
9: 21,870,655 (GRCm39) |
D408E |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,289,779 (GRCm39) |
N754S |
possibly damaging |
Het |
| Etaa1 |
A |
G |
11: 17,895,798 (GRCm39) |
I773T |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,941,324 (GRCm39) |
Y72* |
probably null |
Het |
| Fbxw18 |
T |
G |
9: 109,517,491 (GRCm39) |
D404A |
probably benign |
Het |
| Flot1 |
T |
A |
17: 36,140,859 (GRCm39) |
V283E |
probably damaging |
Het |
| Gm5145 |
G |
T |
17: 20,791,194 (GRCm39) |
G191W |
probably damaging |
Het |
| Gpr161 |
G |
A |
1: 165,134,166 (GRCm39) |
|
probably benign |
Het |
| Helz |
C |
A |
11: 107,563,761 (GRCm39) |
Q1734K |
unknown |
Het |
| Hycc1 |
A |
G |
5: 24,184,579 (GRCm39) |
C300R |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,747,822 (GRCm39) |
V1195A |
possibly damaging |
Het |
| Khdc4 |
T |
A |
3: 88,596,582 (GRCm39) |
L121Q |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,732,716 (GRCm39) |
T2534S |
unknown |
Het |
| Lingo3 |
T |
C |
10: 80,670,821 (GRCm39) |
N370D |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,748,501 (GRCm39) |
V3113A |
|
Het |
| Mthfs |
C |
T |
9: 89,097,454 (GRCm39) |
L104F |
probably damaging |
Het |
| Nlgn1 |
A |
T |
3: 25,488,607 (GRCm39) |
V576D |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,972,636 (GRCm39) |
A2137T |
probably benign |
Het |
| Ociad1 |
T |
A |
5: 73,460,951 (GRCm39) |
H70Q |
probably damaging |
Het |
| Opa1 |
T |
A |
16: 29,404,836 (GRCm39) |
C11* |
probably null |
Het |
| Or4a76 |
A |
G |
2: 89,461,161 (GRCm39) |
V27A |
probably benign |
Het |
| Parp10 |
T |
C |
15: 76,125,964 (GRCm39) |
E408G |
possibly damaging |
Het |
| Pcdhb19 |
G |
A |
18: 37,631,143 (GRCm39) |
E313K |
probably benign |
Het |
| Pmel |
G |
T |
10: 128,551,918 (GRCm39) |
A251S |
probably benign |
Het |
| Polr3d |
G |
T |
14: 70,678,153 (GRCm39) |
P181T |
probably damaging |
Het |
| Prmt3 |
A |
T |
7: 49,430,104 (GRCm39) |
H69L |
probably damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,289,628 (GRCm39) |
Y395N |
possibly damaging |
Het |
| Rubcnl |
A |
T |
14: 75,269,717 (GRCm39) |
N125I |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,030,446 (GRCm39) |
F221S |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,403,684 (GRCm39) |
S1179R |
unknown |
Het |
| Skint6 |
C |
A |
4: 113,095,347 (GRCm39) |
G104V |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,320,839 (GRCm39) |
Y54C |
probably damaging |
Het |
| Sp140 |
TTTTTTTTTTTTT |
TTTTTTTTTTTTTTTTTT |
1: 85,572,290 (GRCm39) |
|
probably benign |
Het |
| Spag5 |
A |
T |
11: 78,212,575 (GRCm39) |
I1137F |
probably benign |
Het |
| Tchp |
A |
T |
5: 114,853,916 (GRCm39) |
Y277F |
probably benign |
Het |
| Tdrd12 |
A |
C |
7: 35,204,468 (GRCm39) |
L267W |
probably damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,396,092 (GRCm39) |
I107N |
|
Het |
| Vmn1r9 |
T |
C |
6: 57,048,513 (GRCm39) |
V196A |
probably benign |
Het |
| Vmn2r62 |
T |
A |
7: 42,413,920 (GRCm39) |
D841V |
|
Het |
| Zzef1 |
G |
T |
11: 72,813,302 (GRCm39) |
R2901L |
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 |
|
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'- ATGCTGTGTGTTAGTCCTCC -3'
(R):5'- AGAAAGTCACTGTCCCTCCC -3'
Sequencing Primer
(F):5'- CTGCCTTTCTCAATGCCATGTAC -3'
(R):5'- CCCCAGGTCTCTGAAGGGTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation