Incidental Mutation 'R7910:Nlrc5'
ID |
610444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrc5
|
Ensembl Gene |
ENSMUSG00000074151 |
Gene Name |
NLR family, CARD domain containing 5 |
Synonyms |
AI451557 |
MMRRC Submission |
045959-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7910 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 95219720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 1103
(S1103R)
|
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: S1103R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138322 Gene: ENSMUSG00000074151 AA Change: S1103R
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: S1103R
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: S1103R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544G11Rik |
A |
T |
6: 65,930,289 (GRCm39) |
T175S |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,531,590 (GRCm39) |
I4606V |
probably damaging |
Het |
Abca3 |
G |
A |
17: 24,604,827 (GRCm39) |
V645I |
probably benign |
Het |
Abi3bp |
A |
T |
16: 56,498,105 (GRCm39) |
R980* |
probably null |
Het |
Acsl6 |
G |
T |
11: 54,236,797 (GRCm39) |
G564* |
probably null |
Het |
Alppl2 |
T |
C |
1: 87,015,159 (GRCm39) |
E430G |
probably benign |
Het |
Anks1b |
A |
G |
10: 90,516,654 (GRCm39) |
Y883C |
probably damaging |
Het |
Atp11b |
T |
C |
3: 35,885,652 (GRCm39) |
F882L |
possibly damaging |
Het |
Atrn |
T |
A |
2: 130,806,807 (GRCm39) |
H609Q |
probably benign |
Het |
Bcl2l13 |
A |
T |
6: 120,842,646 (GRCm39) |
K113M |
possibly damaging |
Het |
Brinp2 |
T |
A |
1: 158,074,450 (GRCm39) |
N557I |
probably damaging |
Het |
C4b |
A |
G |
17: 34,959,326 (GRCm39) |
L416P |
probably benign |
Het |
Ccdc125 |
T |
A |
13: 100,819,327 (GRCm39) |
I163K |
possibly damaging |
Het |
Ccdc136 |
T |
G |
6: 29,420,033 (GRCm39) |
D1075E |
probably benign |
Het |
Cdc45 |
T |
A |
16: 18,629,203 (GRCm39) |
Y47F |
probably damaging |
Het |
Cdk10 |
T |
C |
8: 123,953,105 (GRCm39) |
V36A |
probably damaging |
Het |
Ciz1 |
T |
A |
2: 32,260,139 (GRCm39) |
|
probably null |
Het |
Clasp1 |
T |
G |
1: 118,530,144 (GRCm39) |
L1502* |
probably null |
Het |
Crtc1 |
G |
T |
8: 70,840,251 (GRCm39) |
Q541K |
probably benign |
Het |
Ddx5 |
G |
T |
11: 106,675,261 (GRCm39) |
T358N |
probably damaging |
Het |
Ehbp1l1 |
A |
T |
19: 5,766,452 (GRCm39) |
V1297E |
probably benign |
Het |
Eif2d |
C |
A |
1: 131,082,950 (GRCm39) |
T98K |
probably damaging |
Het |
Ezh2 |
T |
C |
6: 47,533,077 (GRCm39) |
D124G |
probably damaging |
Het |
Gamt |
T |
G |
10: 80,094,243 (GRCm39) |
I223L |
possibly damaging |
Het |
Gbp7 |
T |
C |
3: 142,240,402 (GRCm39) |
V40A |
probably damaging |
Het |
Gm11992 |
A |
G |
11: 8,999,165 (GRCm39) |
E7G |
probably damaging |
Het |
Gml2 |
A |
G |
15: 74,692,379 (GRCm39) |
|
probably null |
Het |
Grem2 |
A |
G |
1: 174,664,813 (GRCm39) |
V12A |
probably benign |
Het |
Gsta1 |
T |
A |
9: 78,139,577 (GRCm39) |
I19N |
probably damaging |
Het |
Gstt2 |
T |
C |
10: 75,667,736 (GRCm39) |
I240V |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,392,291 (GRCm39) |
L185S |
possibly damaging |
Het |
Hsd3b7 |
G |
A |
7: 127,400,419 (GRCm39) |
|
probably null |
Het |
Ift22 |
T |
A |
5: 136,940,638 (GRCm39) |
M101K |
probably benign |
Het |
Irs1 |
A |
G |
1: 82,267,802 (GRCm39) |
V138A |
probably benign |
Het |
Ky |
A |
G |
9: 102,419,141 (GRCm39) |
M383V |
possibly damaging |
Het |
Lama4 |
A |
G |
10: 38,946,005 (GRCm39) |
E796G |
probably damaging |
Het |
Lcp2 |
A |
G |
11: 34,038,061 (GRCm39) |
Y426C |
probably damaging |
Het |
Lig3 |
A |
G |
11: 82,688,601 (GRCm39) |
D755G |
probably damaging |
Het |
Lrrc43 |
A |
G |
5: 123,639,084 (GRCm39) |
D371G |
probably benign |
Het |
Lrrc43 |
T |
A |
5: 123,630,470 (GRCm39) |
I111N |
probably damaging |
Het |
Lrrc74b |
C |
A |
16: 17,376,213 (GRCm39) |
G146* |
probably null |
Het |
Lrrfip1 |
A |
G |
1: 91,047,874 (GRCm39) |
K479E |
possibly damaging |
Het |
Lrriq1 |
C |
A |
10: 103,051,055 (GRCm39) |
E566* |
probably null |
Het |
Mlxipl |
C |
T |
5: 135,161,263 (GRCm39) |
A394V |
possibly damaging |
Het |
Myh14 |
T |
C |
7: 44,281,819 (GRCm39) |
Y813C |
probably damaging |
Het |
Nat10 |
T |
A |
2: 103,555,490 (GRCm39) |
E943D |
probably benign |
Het |
Nectin2 |
T |
A |
7: 19,466,912 (GRCm39) |
K226* |
probably null |
Het |
Nr4a1 |
T |
A |
15: 101,169,641 (GRCm39) |
Y304N |
probably damaging |
Het |
Ntpcr |
T |
C |
8: 126,474,483 (GRCm39) |
V184A |
probably benign |
Het |
Or1j13 |
T |
A |
2: 36,369,345 (GRCm39) |
N266Y |
probably damaging |
Het |
Or5p73 |
T |
C |
7: 108,064,978 (GRCm39) |
V149A |
probably benign |
Het |
Or5t18 |
A |
G |
2: 86,637,191 (GRCm39) |
S51P |
probably benign |
Het |
Oxr1 |
A |
C |
15: 41,517,030 (GRCm39) |
S65R |
possibly damaging |
Het |
Pcdhb19 |
A |
T |
18: 37,630,720 (GRCm39) |
I172L |
probably benign |
Het |
Pds5a |
A |
T |
5: 65,795,925 (GRCm39) |
I655N |
possibly damaging |
Het |
Pik3cg |
T |
C |
12: 32,250,516 (GRCm39) |
Y757C |
probably benign |
Het |
Plekha5 |
C |
A |
6: 140,472,184 (GRCm39) |
T37N |
possibly damaging |
Het |
Ppp4r1 |
T |
A |
17: 66,118,298 (GRCm39) |
F167I |
probably benign |
Het |
Ppp4r1 |
C |
T |
17: 66,136,394 (GRCm39) |
A534V |
probably damaging |
Het |
Ppt2 |
T |
A |
17: 34,846,300 (GRCm39) |
|
probably null |
Het |
Prrt2 |
A |
T |
7: 126,619,219 (GRCm39) |
V82D |
possibly damaging |
Het |
Rassf5 |
T |
A |
1: 131,108,366 (GRCm39) |
Y338F |
probably benign |
Het |
Rbbp6 |
G |
A |
7: 122,596,251 (GRCm39) |
V560I |
possibly damaging |
Het |
Rcbtb1 |
T |
C |
14: 59,474,127 (GRCm39) |
M90T |
unknown |
Het |
Rif1 |
T |
A |
2: 51,968,399 (GRCm39) |
L194* |
probably null |
Het |
Rybp |
A |
T |
6: 100,209,879 (GRCm39) |
I128K |
possibly damaging |
Het |
Samm50 |
T |
G |
15: 84,098,346 (GRCm39) |
F462V |
possibly damaging |
Het |
Slain1 |
T |
C |
14: 103,923,200 (GRCm39) |
Y264H |
probably damaging |
Het |
Slc29a4 |
C |
T |
5: 142,691,156 (GRCm39) |
P12L |
probably benign |
Het |
Slc6a2 |
T |
C |
8: 93,720,766 (GRCm39) |
I461T |
possibly damaging |
Het |
Soat2 |
A |
G |
15: 102,069,106 (GRCm39) |
D377G |
probably damaging |
Het |
Spocd1 |
A |
G |
4: 129,823,893 (GRCm39) |
E230G |
|
Het |
Tbc1d30 |
T |
A |
10: 121,183,061 (GRCm39) |
K126* |
probably null |
Het |
Tgfbi |
T |
A |
13: 56,779,997 (GRCm39) |
F515L |
probably damaging |
Het |
Utf1 |
A |
G |
7: 139,524,704 (GRCm39) |
|
probably benign |
Het |
Vmn1r206 |
G |
T |
13: 22,804,471 (GRCm39) |
Y245* |
probably null |
Het |
Vmn1r87 |
T |
A |
7: 12,865,832 (GRCm39) |
S152C |
probably damaging |
Het |
Zfc3h1 |
C |
A |
10: 115,256,588 (GRCm39) |
Y1519* |
probably null |
Het |
Zfp248 |
A |
T |
6: 118,407,103 (GRCm39) |
L162H |
possibly damaging |
Het |
Zfp804a |
T |
A |
2: 82,086,917 (GRCm39) |
F249I |
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 |
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'- TTTGACAAAGTGGTGGCAGG -3'
(R):5'- ACTGAGGTGATCCAAAGGGC -3'
Sequencing Primer
(F):5'- GTTCCTCCACCTGAACAATGAGG -3'
(R):5'- TGATCCAAAGGGCCCAGC -3'
|
Posted On |
2019-12-20 |