Incidental Mutation 'R4758:Nlrc5'
ID |
358330 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrc5
|
Ensembl Gene |
ENSMUSG00000074151 |
Gene Name |
NLR family, CARD domain containing 5 |
Synonyms |
AI451557 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4758 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 95238956 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 1465
(Q1465K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053085]
[ENSMUST00000211816]
|
AlphaFold |
C3VPR6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053085
AA Change: Q1465K
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138322 Gene: ENSMUSG00000074151 AA Change: Q1465K
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: ENSMUST00000211816
AA Change: Q1465K
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
A |
3: 36,127,754 (GRCm39) |
Y119N |
probably damaging |
Het |
Actn2 |
T |
A |
13: 12,303,472 (GRCm39) |
K443* |
probably null |
Het |
Adgrb2 |
A |
G |
4: 129,903,143 (GRCm39) |
N581S |
probably damaging |
Het |
Afg2a |
T |
A |
3: 37,487,385 (GRCm39) |
S416T |
probably benign |
Het |
Alb |
A |
T |
5: 90,616,452 (GRCm39) |
H319L |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,371,741 (GRCm39) |
I802V |
probably benign |
Het |
Arhgap45 |
G |
A |
10: 79,866,127 (GRCm39) |
G995E |
probably benign |
Het |
Capn12 |
A |
C |
7: 28,592,148 (GRCm39) |
T689P |
possibly damaging |
Het |
Cars1 |
T |
C |
7: 143,125,304 (GRCm39) |
S312G |
probably benign |
Het |
Cast |
T |
A |
13: 74,887,999 (GRCm39) |
D216V |
possibly damaging |
Het |
Ccdc13 |
C |
T |
9: 121,662,800 (GRCm39) |
E72K |
possibly damaging |
Het |
Cd300lg |
G |
T |
11: 101,944,417 (GRCm39) |
|
probably null |
Het |
Cep41 |
A |
G |
6: 30,671,368 (GRCm39) |
|
probably benign |
Het |
Chrna3 |
A |
G |
9: 54,929,560 (GRCm39) |
Y93H |
probably damaging |
Het |
Cic |
A |
G |
7: 24,991,636 (GRCm39) |
R1309G |
possibly damaging |
Het |
Clcnkb |
A |
G |
4: 141,135,160 (GRCm39) |
V526A |
probably benign |
Het |
Clec4a1 |
G |
T |
6: 122,910,825 (GRCm39) |
V227F |
probably damaging |
Het |
Cpa5 |
C |
A |
6: 30,615,159 (GRCm39) |
H99N |
possibly damaging |
Het |
Crem |
C |
A |
18: 3,327,527 (GRCm39) |
C4F |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Decr2 |
C |
A |
17: 26,307,914 (GRCm39) |
E46D |
probably damaging |
Het |
Dlg1 |
G |
A |
16: 31,610,570 (GRCm39) |
V284I |
possibly damaging |
Het |
Dnah3 |
T |
C |
7: 119,678,629 (GRCm39) |
E360G |
probably benign |
Het |
Dnajc1 |
A |
T |
2: 18,313,757 (GRCm39) |
Y121* |
probably null |
Het |
Dnajc13 |
A |
G |
9: 104,049,773 (GRCm39) |
F1783L |
probably damaging |
Het |
Eps8l2 |
T |
A |
7: 140,940,286 (GRCm39) |
D505E |
probably damaging |
Het |
Eral1 |
G |
A |
11: 77,966,425 (GRCm39) |
T251I |
probably benign |
Het |
Eya3 |
T |
C |
4: 132,422,196 (GRCm39) |
|
probably null |
Het |
Fam120a |
G |
A |
13: 49,034,333 (GRCm39) |
T1093I |
probably benign |
Het |
Fbn2 |
C |
T |
18: 58,159,458 (GRCm39) |
A2424T |
probably benign |
Het |
Git2 |
G |
A |
5: 114,868,412 (GRCm39) |
T256M |
probably damaging |
Het |
Gm9805 |
A |
T |
17: 22,689,871 (GRCm38) |
Y34F |
probably benign |
Het |
Itgb7 |
T |
G |
15: 102,124,642 (GRCm39) |
T792P |
probably benign |
Het |
Jakmip1 |
T |
A |
5: 37,285,966 (GRCm39) |
I665N |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,446,635 (GRCm39) |
Y677H |
probably damaging |
Het |
Klhdc4 |
G |
A |
8: 122,524,783 (GRCm39) |
P382S |
probably benign |
Het |
Knl1 |
TCC |
TC |
2: 118,902,213 (GRCm39) |
|
probably null |
Het |
Lamb3 |
T |
A |
1: 193,022,269 (GRCm39) |
M1039K |
possibly damaging |
Het |
Lipm |
A |
T |
19: 34,078,570 (GRCm39) |
M1L |
possibly damaging |
Het |
Lrrc37 |
A |
G |
11: 103,505,290 (GRCm39) |
V2226A |
possibly damaging |
Het |
Magi3 |
T |
A |
3: 103,922,637 (GRCm39) |
D1360V |
probably benign |
Het |
Mier2 |
C |
A |
10: 79,386,182 (GRCm39) |
C23F |
probably damaging |
Het |
Myo1h |
C |
T |
5: 114,487,643 (GRCm39) |
R616C |
probably damaging |
Het |
Nars2 |
A |
G |
7: 96,622,735 (GRCm39) |
D187G |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,912,824 (GRCm39) |
M988V |
probably benign |
Het |
Nlrp4e |
T |
C |
7: 23,020,043 (GRCm39) |
F177L |
probably benign |
Het |
Oas1a |
A |
G |
5: 121,045,401 (GRCm39) |
F47L |
probably damaging |
Het |
Oas1f |
A |
G |
5: 120,985,545 (GRCm39) |
E30G |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,894,189 (GRCm39) |
M6689K |
unknown |
Het |
Obscn |
A |
T |
11: 59,026,743 (GRCm39) |
D153E |
probably damaging |
Het |
Or52s6 |
A |
C |
7: 103,092,076 (GRCm39) |
C85G |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,882,036 (GRCm39) |
I36K |
probably benign |
Het |
Pcf11 |
A |
T |
7: 92,310,383 (GRCm39) |
F535Y |
probably damaging |
Het |
Pde2a |
C |
T |
7: 101,160,706 (GRCm39) |
R886C |
probably damaging |
Het |
Pik3ca |
T |
A |
3: 32,492,127 (GRCm39) |
C242S |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,311,674 (GRCm39) |
D1925E |
possibly damaging |
Het |
Plekhm2 |
A |
T |
4: 141,369,316 (GRCm39) |
Y123N |
possibly damaging |
Het |
Pomt2 |
A |
T |
12: 87,169,652 (GRCm39) |
V406D |
probably damaging |
Het |
Ppfia2 |
G |
C |
10: 106,597,978 (GRCm39) |
L180F |
probably damaging |
Het |
Prdm10 |
A |
T |
9: 31,273,708 (GRCm39) |
T985S |
probably benign |
Het |
Proc |
T |
A |
18: 32,256,863 (GRCm39) |
Y268F |
probably damaging |
Het |
Prrc1 |
C |
T |
18: 57,517,320 (GRCm39) |
T365M |
probably damaging |
Het |
Rasa1 |
A |
T |
13: 85,382,567 (GRCm39) |
D446E |
probably benign |
Het |
Ribc2 |
T |
A |
15: 85,025,867 (GRCm39) |
L281Q |
probably damaging |
Het |
Runx1t1 |
A |
G |
4: 13,865,907 (GRCm39) |
D385G |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,717,880 (GRCm39) |
S1495P |
possibly damaging |
Het |
Slc15a3 |
G |
T |
19: 10,831,726 (GRCm39) |
|
probably null |
Het |
Slc43a3 |
A |
G |
2: 84,774,869 (GRCm39) |
N149S |
probably damaging |
Het |
Specc1l |
A |
G |
10: 75,082,182 (GRCm39) |
Q543R |
probably damaging |
Het |
Spef1 |
T |
C |
2: 131,014,661 (GRCm39) |
|
probably null |
Het |
Spns1 |
A |
T |
7: 125,969,966 (GRCm39) |
F478Y |
probably damaging |
Het |
Srebf2 |
T |
C |
15: 82,080,370 (GRCm39) |
V821A |
probably benign |
Het |
Stac3 |
A |
G |
10: 127,339,214 (GRCm39) |
M108V |
possibly damaging |
Het |
Stradb |
A |
G |
1: 59,027,730 (GRCm39) |
T87A |
probably benign |
Het |
Stxbp5l |
A |
T |
16: 36,954,592 (GRCm39) |
M906K |
probably benign |
Het |
Tex14 |
T |
C |
11: 87,405,311 (GRCm39) |
V741A |
probably benign |
Het |
Thoc2l |
A |
C |
5: 104,668,265 (GRCm39) |
E929A |
possibly damaging |
Het |
Tpo |
C |
A |
12: 30,125,870 (GRCm39) |
G830C |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,128,080 (GRCm39) |
C2308* |
probably null |
Het |
Vmn1r205 |
T |
C |
13: 22,777,016 (GRCm39) |
T29A |
possibly damaging |
Het |
Vmn1r69 |
G |
A |
7: 10,314,473 (GRCm39) |
T7I |
probably benign |
Het |
Vmn2r27 |
T |
G |
6: 124,208,596 (GRCm39) |
T50P |
possibly damaging |
Het |
Wdr83 |
A |
G |
8: 85,801,867 (GRCm39) |
Y302H |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,346,879 (GRCm39) |
E3040V |
probably damaging |
Het |
Zfp629 |
C |
A |
7: 127,209,758 (GRCm39) |
G684W |
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 |
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 |
PCR Primer
(F):5'- TCCCAGTGGGTCTTGTAACTG -3'
(R):5'- TATGCTGAACACACCTCAGG -3'
Sequencing Primer
(F):5'- GTAAACTCAGACTTTCTTTAGCCAGC -3'
(R):5'- GTCACCATGACAGAAGGT -3'
|
Posted On |
2015-11-11 |