Incidental Mutation 'R9620:Nlrc5'
| ID |
724718 |
| 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 # |
R9620 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95203034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 378
(Y378F)
|
| 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: Y378F
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: Y378F
| 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: ENSMUST00000182409
AA Change: Y378F
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211816
AA Change: Y378F
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
G |
T |
18: 10,704,605 (GRCm39) |
T151K |
possibly damaging |
Het |
| Acsf2 |
C |
T |
11: 94,463,412 (GRCm39) |
W130* |
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 44,797,413 (GRCm39) |
R132* |
probably null |
Het |
| Amer3 |
C |
T |
1: 34,628,043 (GRCm39) |
P761S |
probably benign |
Het |
| Amotl1 |
G |
T |
9: 14,459,969 (GRCm39) |
D886E |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,035,909 (GRCm39) |
F1383S |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,225,781 (GRCm39) |
V148E |
unknown |
Het |
| Col9a2 |
T |
A |
4: 120,910,403 (GRCm39) |
|
probably null |
Het |
| Cyp2a5 |
T |
A |
7: 26,536,636 (GRCm39) |
M205K |
possibly damaging |
Het |
| Dcst2 |
A |
T |
3: 89,277,825 (GRCm39) |
Q466L |
possibly damaging |
Het |
| Ecel1 |
T |
C |
1: 87,080,853 (GRCm39) |
I350V |
possibly damaging |
Het |
| Enthd1 |
G |
A |
15: 80,336,901 (GRCm39) |
T511I |
probably benign |
Het |
| Exoc6b |
T |
A |
6: 84,988,302 (GRCm39) |
K92* |
probably null |
Het |
| Fam181a |
T |
G |
12: 103,282,591 (GRCm39) |
Y165* |
probably null |
Het |
| Fbxo34 |
A |
G |
14: 47,768,725 (GRCm39) |
Y746C |
probably damaging |
Het |
| Fgfr4 |
T |
A |
13: 55,308,994 (GRCm39) |
S372T |
possibly damaging |
Het |
| Fmo1 |
A |
G |
1: 162,661,390 (GRCm39) |
F298L |
probably benign |
Het |
| Gad1 |
A |
C |
2: 70,404,620 (GRCm39) |
D170A |
possibly damaging |
Het |
| Garin2 |
A |
C |
12: 78,762,077 (GRCm39) |
D247A |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,739,811 (GRCm39) |
S2758P |
probably benign |
Het |
| Golm2 |
T |
C |
2: 121,737,242 (GRCm39) |
V261A |
probably benign |
Het |
| H2az2 |
A |
T |
11: 6,379,094 (GRCm39) |
|
probably null |
Het |
| Ilkap |
A |
G |
1: 91,303,973 (GRCm39) |
C163R |
|
Het |
| Krt9 |
A |
T |
11: 100,079,186 (GRCm39) |
D735E |
unknown |
Het |
| Lipo3 |
A |
T |
19: 33,559,629 (GRCm39) |
C80* |
probably null |
Het |
| Lpcat3 |
C |
T |
6: 124,680,543 (GRCm39) |
P478L |
probably damaging |
Het |
| Luc7l3 |
G |
A |
11: 94,212,545 (GRCm39) |
R24C |
unknown |
Het |
| Mafa |
T |
A |
15: 75,619,161 (GRCm39) |
H204L |
probably benign |
Het |
| Mapk10 |
A |
C |
5: 103,114,473 (GRCm39) |
V305G |
probably damaging |
Het |
| Mgat1 |
T |
C |
11: 49,152,122 (GRCm39) |
F202L |
probably benign |
Het |
| Mical2 |
A |
T |
7: 111,980,403 (GRCm39) |
T126S |
probably benign |
Het |
| Mill1 |
G |
A |
7: 17,997,027 (GRCm39) |
R206H |
probably benign |
Het |
| Nlrp9a |
G |
T |
7: 26,250,469 (GRCm39) |
R78L |
probably damaging |
Het |
| Or10b1 |
G |
T |
10: 78,356,128 (GRCm39) |
A229S |
probably benign |
Het |
| Or52i2 |
A |
T |
7: 102,320,011 (GRCm39) |
I295F |
possibly damaging |
Het |
| Or8g50 |
A |
T |
9: 39,648,287 (GRCm39) |
M59L |
|
Het |
| Orc6 |
A |
T |
8: 86,026,430 (GRCm39) |
|
probably benign |
Het |
| Pate14 |
A |
G |
9: 36,548,498 (GRCm39) |
|
probably null |
Het |
| Pcdhgb5 |
C |
T |
18: 37,864,486 (GRCm39) |
Q94* |
probably null |
Het |
| Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,749,519 (GRCm39) |
H1135L |
|
Het |
| Prmt2 |
A |
T |
10: 76,061,213 (GRCm39) |
I91N |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,116,484 (GRCm39) |
Y932H |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,337,946 (GRCm39) |
K154R |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,036,051 (GRCm39) |
T515A |
probably benign |
Het |
| Rgmb |
G |
A |
17: 16,041,279 (GRCm39) |
R103* |
probably null |
Het |
| Ripk1 |
T |
G |
13: 34,210,806 (GRCm39) |
S334A |
possibly damaging |
Het |
| Rnf5 |
C |
T |
17: 34,820,721 (GRCm39) |
G147S |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,715,138 (GRCm39) |
Y4662C |
unknown |
Het |
| Secisbp2l |
A |
G |
2: 125,589,394 (GRCm39) |
M718T |
probably damaging |
Het |
| Slc16a6 |
T |
C |
11: 109,354,322 (GRCm39) |
T100A |
probably benign |
Het |
| Slc27a6 |
T |
A |
18: 58,742,887 (GRCm39) |
M525K |
probably damaging |
Het |
| Slco2a1 |
G |
C |
9: 102,962,065 (GRCm39) |
C579S |
probably damaging |
Het |
| Snx14 |
A |
G |
9: 88,263,794 (GRCm39) |
S864P |
probably damaging |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,800,535 (GRCm39) |
L2250P |
probably damaging |
Het |
| Tlr6 |
A |
T |
5: 65,112,146 (GRCm39) |
S254T |
possibly damaging |
Het |
| Trap1 |
A |
T |
16: 3,858,083 (GRCm39) |
Y675* |
probably null |
Het |
| Ttc9b |
C |
A |
7: 27,353,512 (GRCm39) |
A54E |
probably damaging |
Het |
| Unc45a |
A |
C |
7: 79,975,403 (GRCm39) |
Y934D |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 102,900,179 (GRCm39) |
L251P |
possibly damaging |
Het |
| Usp42 |
A |
G |
5: 143,703,154 (GRCm39) |
V489A |
probably damaging |
Het |
| Vars1 |
A |
G |
17: 35,235,001 (GRCm39) |
T1277A |
unknown |
Het |
| Vmn2r117 |
A |
G |
17: 23,697,450 (GRCm39) |
S81P |
probably damaging |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,504 (GRCm39) |
I157F |
probably benign |
Het |
| Zfp697 |
A |
G |
3: 98,335,182 (GRCm39) |
S316G |
probably damaging |
Het |
| Zfp729b |
T |
A |
13: 67,739,787 (GRCm39) |
H826L |
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 |
|
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 |
|
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'- TGAGGCTCTCCATGCTGATTC -3'
(R):5'- CTGCAGGTACAACTGGGTTATG -3'
Sequencing Primer
(F):5'- CTGTGGGTACTGACAATGCAG -3'
(R):5'- ACAACTGGGTTATGGTGGGCAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation