Incidental Mutation 'R6765:Nlrc5'
ID |
531863 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrc5
|
Ensembl Gene |
ENSMUSG00000074151 |
Gene Name |
NLR family, CARD domain containing 5 |
Synonyms |
AI451557 |
MMRRC Submission |
044881-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6765 (G1)
|
Quality Score |
204.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 95216996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 995
(T995M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053085]
[ENSMUST00000182409]
[ENSMUST00000211816]
|
AlphaFold |
C3VPR6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053085
AA Change: T995M
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000138322 Gene: ENSMUSG00000074151 AA Change: T995M
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: T995M
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183132
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211816
AA Change: T995M
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (58/58) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
C |
A |
7: 82,216,232 (GRCm39) |
D878E |
possibly damaging |
Het |
Adipor2 |
A |
C |
6: 119,334,203 (GRCm39) |
F336V |
possibly damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
Aoc1 |
A |
G |
6: 48,882,871 (GRCm39) |
N249S |
probably benign |
Het |
Ap1b1 |
T |
A |
11: 4,969,427 (GRCm39) |
L261Q |
probably damaging |
Het |
Ap3b1 |
T |
A |
13: 94,599,017 (GRCm39) |
D530E |
probably benign |
Het |
Arid4b |
T |
A |
13: 14,361,900 (GRCm39) |
M788K |
possibly damaging |
Het |
Atp2c2 |
A |
T |
8: 120,479,756 (GRCm39) |
I762F |
probably damaging |
Het |
Bhlhe23 |
C |
A |
2: 180,418,136 (GRCm39) |
R134L |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,777,934 (GRCm39) |
D687G |
probably damaging |
Het |
Ccdc136 |
G |
A |
6: 29,405,940 (GRCm39) |
M95I |
probably benign |
Het |
Cdk12 |
T |
A |
11: 98,115,355 (GRCm39) |
I832N |
unknown |
Het |
Clcn2 |
A |
C |
16: 20,526,418 (GRCm39) |
|
probably null |
Het |
Csrnp2 |
C |
T |
15: 100,380,574 (GRCm39) |
R239Q |
probably damaging |
Het |
Dhrs13 |
T |
A |
11: 77,927,965 (GRCm39) |
D270E |
probably benign |
Het |
Dlgap2 |
G |
A |
8: 14,793,284 (GRCm39) |
G426D |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Fam120a |
A |
G |
13: 49,045,440 (GRCm39) |
Y799H |
probably damaging |
Het |
Farp1 |
G |
A |
14: 121,460,066 (GRCm39) |
V112I |
probably benign |
Het |
Fhip2a |
A |
G |
19: 57,367,177 (GRCm39) |
D240G |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,816,776 (GRCm39) |
I4170V |
probably benign |
Het |
Gm12185 |
A |
G |
11: 48,806,531 (GRCm39) |
V220A |
probably benign |
Het |
Gpr37l1 |
T |
C |
1: 135,094,860 (GRCm39) |
Y128C |
probably damaging |
Het |
Gsto2 |
A |
T |
19: 47,860,227 (GRCm39) |
R7* |
probably null |
Het |
Itih3 |
C |
T |
14: 30,631,430 (GRCm39) |
G822D |
probably benign |
Het |
Kcnu1 |
A |
T |
8: 26,403,673 (GRCm39) |
D728V |
probably damaging |
Het |
Khdc4 |
G |
T |
3: 88,593,736 (GRCm39) |
G42W |
probably damaging |
Het |
Lnpep |
G |
A |
17: 17,750,758 (GRCm39) |
T976I |
probably damaging |
Het |
Map1b |
A |
C |
13: 99,562,449 (GRCm39) |
H2420Q |
unknown |
Het |
Mc1r |
A |
G |
8: 124,134,435 (GRCm39) |
K63E |
probably damaging |
Het |
Mpped1 |
G |
A |
15: 83,720,584 (GRCm39) |
V15M |
probably damaging |
Het |
Ncor1 |
T |
C |
11: 62,264,272 (GRCm39) |
T103A |
probably benign |
Het |
Nhsl1 |
A |
T |
10: 18,407,062 (GRCm39) |
T1399S |
probably benign |
Het |
Nrbp1 |
G |
A |
5: 31,403,190 (GRCm39) |
|
probably null |
Het |
Or10g9 |
A |
C |
9: 39,912,493 (GRCm39) |
F10C |
probably damaging |
Het |
Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
Or8k27 |
T |
C |
2: 86,275,580 (GRCm39) |
T249A |
probably benign |
Het |
Pcdhb13 |
T |
C |
18: 37,576,663 (GRCm39) |
L347P |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,128,563 (GRCm39) |
T4047A |
probably benign |
Het |
Prrt2 |
T |
A |
7: 126,618,769 (GRCm39) |
D232V |
probably damaging |
Het |
Psmd5 |
A |
C |
2: 34,746,545 (GRCm39) |
M344R |
probably benign |
Het |
Pwp1 |
G |
A |
10: 85,720,397 (GRCm39) |
E345K |
probably damaging |
Het |
Qsox1 |
A |
G |
1: 155,666,851 (GRCm39) |
Y213H |
probably benign |
Het |
Rmc1 |
A |
G |
18: 12,309,203 (GRCm39) |
N92D |
possibly damaging |
Het |
Sclt1 |
T |
C |
3: 41,685,337 (GRCm39) |
R39G |
unknown |
Het |
Syne1 |
A |
T |
10: 5,093,285 (GRCm39) |
|
probably null |
Het |
Tmem163 |
G |
T |
1: 127,479,078 (GRCm39) |
A147E |
probably damaging |
Het |
Trav13n-4 |
A |
T |
14: 53,601,557 (GRCm39) |
M109L |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,039,790 (GRCm39) |
E1283G |
probably damaging |
Het |
Trpm6 |
T |
A |
19: 18,855,129 (GRCm39) |
D1929E |
probably damaging |
Het |
Upb1 |
A |
T |
10: 75,273,978 (GRCm39) |
D335V |
probably damaging |
Het |
Vps26b |
T |
C |
9: 26,924,104 (GRCm39) |
E213G |
probably damaging |
Het |
Vwc2 |
C |
T |
11: 11,104,215 (GRCm39) |
T249I |
probably benign |
Het |
Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,391,409 (GRCm39) |
C4692R |
unknown |
Het |
Zfp106 |
T |
C |
2: 120,369,935 (GRCm39) |
E29G |
probably damaging |
Het |
Zfp551 |
G |
A |
7: 12,150,767 (GRCm39) |
A214V |
possibly damaging |
Het |
Zfp981 |
T |
A |
4: 146,622,363 (GRCm39) |
H429Q |
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 |
|
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'- CTCTGCTATTTGGGGCATGC -3'
(R):5'- AGAAAGTCACTGTCCCTCCC -3'
Sequencing Primer
(F):5'- GCATGCTGTGTGTTAGTCCTCC -3'
(R):5'- CCAGGTCTCTGAAGGGTCTCTG -3'
|
Posted On |
2018-08-29 |