Incidental Mutation 'R9278:Nlrc5'
ID |
703440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrc5
|
Ensembl Gene |
ENSMUSG00000074151 |
Gene Name |
NLR family, CARD domain containing 5 |
Synonyms |
AI451557 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9278 (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 95237908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1434
(D1434G)
|
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: D1434G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138322 Gene: ENSMUSG00000074151 AA Change: D1434G
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211816
AA Change: D1434G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 93.4%
- 3x: 93.4%
- 10x: 93.2%
- 20x: 92.9%
|
Validation Efficiency |
97% (77/79) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
T |
A |
17: 14,024,270 (GRCm39) |
C59S |
probably damaging |
Het |
Aicda |
C |
T |
6: 122,538,854 (GRCm39) |
A161V |
possibly damaging |
Het |
Ankrd12 |
C |
T |
17: 66,344,599 (GRCm39) |
E91K |
possibly damaging |
Het |
Arpc2 |
C |
A |
1: 74,276,041 (GRCm39) |
F19L |
probably benign |
Het |
Aspa |
T |
C |
11: 73,215,280 (GRCm39) |
K12E |
possibly damaging |
Het |
Chd8 |
G |
A |
14: 52,472,627 (GRCm39) |
P392L |
probably benign |
Het |
Cldn10 |
C |
T |
14: 119,111,647 (GRCm39) |
R206W |
probably damaging |
Het |
Clec4b2 |
T |
A |
6: 123,181,224 (GRCm39) |
M203K |
probably damaging |
Het |
Clec4d |
G |
T |
6: 123,251,651 (GRCm39) |
E178* |
probably null |
Het |
Clec4d |
T |
C |
6: 123,251,649 (GRCm39) |
M177T |
probably benign |
Het |
Cmpk2 |
A |
T |
12: 26,519,568 (GRCm39) |
Y73F |
probably benign |
Het |
Col1a1 |
T |
A |
11: 94,838,103 (GRCm39) |
V845D |
unknown |
Het |
Cyp2c67 |
C |
T |
19: 39,597,699 (GRCm39) |
R433Q |
probably damaging |
Het |
Dda1 |
A |
T |
8: 71,927,130 (GRCm39) |
|
probably null |
Het |
Ddx60 |
A |
T |
8: 62,431,012 (GRCm39) |
Y849F |
possibly damaging |
Het |
Dnm2 |
C |
T |
9: 21,416,977 (GRCm39) |
R837W |
possibly damaging |
Het |
Dtwd1 |
C |
T |
2: 126,006,728 (GRCm39) |
T250I |
probably damaging |
Het |
Efcab6 |
A |
G |
15: 83,777,094 (GRCm39) |
V1114A |
probably damaging |
Het |
Fat4 |
A |
G |
3: 38,945,171 (GRCm39) |
T1355A |
probably benign |
Het |
Fbxo40 |
T |
G |
16: 36,789,940 (GRCm39) |
D390A |
possibly damaging |
Het |
Gnaz |
T |
A |
10: 74,827,437 (GRCm39) |
L63Q |
probably benign |
Het |
H6pd |
T |
A |
4: 150,080,307 (GRCm39) |
K179N |
probably damaging |
Het |
Hmgb2 |
A |
G |
8: 57,965,786 (GRCm39) |
|
probably benign |
Het |
Hps5 |
A |
G |
7: 46,440,397 (GRCm39) |
F18L |
probably benign |
Het |
Hyal5 |
A |
G |
6: 24,876,694 (GRCm39) |
E189G |
probably benign |
Het |
Ifnar1 |
T |
A |
16: 91,302,013 (GRCm39) |
I496N |
probably damaging |
Het |
Ift70a2 |
T |
C |
2: 75,807,375 (GRCm39) |
D379G |
probably damaging |
Het |
Igf2r |
C |
A |
17: 12,914,240 (GRCm39) |
C1743F |
probably damaging |
Het |
Igfn1 |
C |
A |
1: 135,901,185 (GRCm39) |
R431L |
probably damaging |
Het |
Itch |
A |
G |
2: 155,045,217 (GRCm39) |
Q507R |
probably benign |
Het |
Kbtbd2 |
C |
A |
6: 56,757,331 (GRCm39) |
R135L |
probably damaging |
Het |
Kcnn2 |
T |
C |
18: 45,725,446 (GRCm39) |
I314T |
probably damaging |
Het |
Lix1 |
A |
G |
17: 17,623,211 (GRCm39) |
D2G |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,487,076 (GRCm39) |
Y4557C |
|
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Mcam |
G |
T |
9: 44,046,473 (GRCm39) |
|
probably benign |
Het |
Med19 |
G |
T |
2: 84,508,975 (GRCm39) |
G63C |
probably damaging |
Het |
Mfsd4b1 |
C |
T |
10: 39,883,330 (GRCm39) |
R40H |
probably damaging |
Het |
Neb |
C |
T |
2: 52,146,190 (GRCm39) |
R2929H |
probably damaging |
Het |
Nlrp14 |
A |
T |
7: 106,797,049 (GRCm39) |
N972I |
probably damaging |
Het |
Or13a18 |
T |
C |
7: 140,190,936 (GRCm39) |
Y278H |
probably damaging |
Het |
Or14j7 |
A |
T |
17: 38,235,275 (GRCm39) |
M273L |
probably benign |
Het |
Or2h15 |
A |
T |
17: 38,441,693 (GRCm39) |
L130Q |
probably damaging |
Het |
Or4a74 |
A |
C |
2: 89,439,948 (GRCm39) |
F166C |
probably damaging |
Het |
Or8g29-ps1 |
A |
G |
9: 39,200,781 (GRCm39) |
V135A |
probably benign |
Het |
Otop1 |
T |
C |
5: 38,460,158 (GRCm39) |
V575A |
probably damaging |
Het |
Pcdhb4 |
A |
G |
18: 37,441,925 (GRCm39) |
S412G |
possibly damaging |
Het |
Pcsk4 |
T |
C |
10: 80,161,224 (GRCm39) |
D230G |
probably damaging |
Het |
Phldb2 |
C |
A |
16: 45,646,308 (GRCm39) |
S46I |
probably damaging |
Het |
Pik3ca |
A |
T |
3: 32,508,587 (GRCm39) |
N785I |
probably damaging |
Het |
Polr2b |
A |
G |
5: 77,471,485 (GRCm39) |
R274G |
probably damaging |
Het |
Prkdc |
G |
A |
16: 15,634,523 (GRCm39) |
|
probably null |
Het |
Prune2 |
C |
T |
19: 17,101,144 (GRCm39) |
T2216I |
probably benign |
Het |
Psma3 |
A |
T |
12: 71,041,156 (GRCm39) |
D252V |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,326,768 (GRCm39) |
V1586A |
|
Het |
Ryr2 |
T |
C |
13: 11,897,976 (GRCm39) |
T140A |
probably benign |
Het |
Slc25a48 |
A |
G |
13: 56,611,552 (GRCm39) |
I220V |
probably benign |
Het |
Slc2a1 |
A |
T |
4: 118,990,607 (GRCm39) |
E246D |
probably benign |
Het |
Slc45a4 |
A |
G |
15: 73,458,206 (GRCm39) |
Y448H |
probably benign |
Het |
Sorl1 |
C |
T |
9: 41,957,857 (GRCm39) |
V596I |
probably benign |
Het |
Spag6 |
A |
C |
2: 18,703,985 (GRCm39) |
E11A |
probably benign |
Het |
Spef2 |
A |
G |
15: 9,727,495 (GRCm39) |
|
probably null |
Het |
Spon1 |
T |
C |
7: 113,628,188 (GRCm39) |
S315P |
probably damaging |
Het |
Stard3 |
G |
A |
11: 98,262,931 (GRCm39) |
|
probably benign |
Het |
Sv2c |
A |
G |
13: 96,112,589 (GRCm39) |
M636T |
probably damaging |
Het |
Syt17 |
T |
A |
7: 118,033,480 (GRCm39) |
D172V |
probably damaging |
Het |
Tcf4 |
A |
G |
18: 69,766,652 (GRCm39) |
Y206C |
probably damaging |
Het |
Tead2 |
G |
T |
7: 44,880,776 (GRCm39) |
S318I |
probably benign |
Het |
Tom1 |
A |
T |
8: 75,783,883 (GRCm39) |
D289V |
probably damaging |
Het |
Tonsl |
A |
G |
15: 76,520,971 (GRCm39) |
|
probably benign |
Het |
Tsen15 |
T |
C |
1: 152,259,098 (GRCm39) |
I87V |
probably damaging |
Het |
Usp15 |
A |
G |
10: 123,007,112 (GRCm39) |
F123S |
probably damaging |
Het |
Vmn1r220 |
A |
T |
13: 23,368,258 (GRCm39) |
I146N |
possibly damaging |
Het |
Vmn2r108 |
A |
T |
17: 20,692,561 (GRCm39) |
N98K |
probably benign |
Het |
Vmn2r71 |
T |
A |
7: 85,269,788 (GRCm39) |
M433K |
probably benign |
Het |
Vmn2r97 |
A |
T |
17: 19,134,762 (GRCm39) |
H60L |
probably benign |
Het |
Wbp4 |
A |
G |
14: 79,699,486 (GRCm39) |
V336A |
probably benign |
Het |
Zfp663 |
T |
C |
2: 165,202,010 (GRCm39) |
|
probably null |
Het |
Zpld2 |
A |
G |
4: 133,922,770 (GRCm39) |
L521P |
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 |
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 |
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'- GGCTCTTGGTATCACCTTCC -3'
(R):5'- GAGGAGAGGAGCTTCCAGC -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CAGCATGTGGAAAGACCA -3'
|
Posted On |
2022-03-25 |