Incidental Mutation 'R7204:Nlrc5'
ID |
560451 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrc5
|
Ensembl Gene |
ENSMUSG00000074151 |
Gene Name |
NLR family, CARD domain containing 5 |
Synonyms |
AI451557 |
MMRRC Submission |
045282-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7204 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 95218153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 1056
(V1056D)
|
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 |
possibly damaging
Transcript: ENSMUST00000053085
AA Change: V1056D
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138322 Gene: ENSMUSG00000074151 AA Change: V1056D
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: V1056D
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183132
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211816
AA Change: V1056D
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.6841 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
99% (75/76) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067K01Rik |
T |
C |
8: 84,730,636 (GRCm39) |
S227P |
probably damaging |
Het |
Acot6 |
A |
G |
12: 84,153,301 (GRCm39) |
H181R |
probably benign |
Het |
Adam15 |
A |
T |
3: 89,254,244 (GRCm39) |
H184Q |
probably benign |
Het |
Agl |
A |
G |
3: 116,587,469 (GRCm39) |
F29L |
probably benign |
Het |
Ak7 |
A |
G |
12: 105,708,502 (GRCm39) |
Y319C |
probably benign |
Het |
Ano8 |
C |
A |
8: 71,931,669 (GRCm39) |
V813L |
probably benign |
Het |
Apbb2 |
T |
G |
5: 66,608,946 (GRCm39) |
K234Q |
probably damaging |
Het |
Arfgef3 |
A |
T |
10: 18,522,210 (GRCm39) |
D605E |
probably damaging |
Het |
Bfsp2 |
C |
A |
9: 103,309,865 (GRCm39) |
R340L |
probably damaging |
Het |
Birc6 |
C |
A |
17: 74,947,103 (GRCm39) |
P2956T |
probably damaging |
Het |
C1rb |
T |
C |
6: 124,554,386 (GRCm39) |
I389T |
probably benign |
Het |
Ccdc146 |
A |
G |
5: 21,513,624 (GRCm39) |
F498S |
probably benign |
Het |
Cdc14b |
A |
C |
13: 64,358,012 (GRCm39) |
V361G |
possibly damaging |
Het |
Cdc25b |
A |
T |
2: 131,033,552 (GRCm39) |
I164F |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 76,921,110 (GRCm39) |
S297P |
unknown |
Het |
Col3a1 |
A |
T |
1: 45,361,578 (GRCm39) |
I117F |
unknown |
Het |
Cox4i2 |
AG |
A |
2: 152,602,618 (GRCm39) |
|
probably null |
Het |
Crybg3 |
C |
A |
16: 59,379,253 (GRCm39) |
G667V |
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,920,567 (GRCm39) |
D623G |
probably damaging |
Het |
Dennd1a |
A |
T |
2: 37,929,215 (GRCm39) |
H152Q |
probably damaging |
Het |
Dgke |
G |
A |
11: 88,932,306 (GRCm39) |
P495S |
probably damaging |
Het |
Dll3 |
A |
T |
7: 27,998,330 (GRCm39) |
C212S |
possibly damaging |
Het |
Dll4 |
A |
T |
2: 119,159,054 (GRCm39) |
S235C |
probably damaging |
Het |
Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
T |
14: 26,503,442 (GRCm39) |
T1599S |
probably damaging |
Het |
Elavl1 |
G |
A |
8: 4,361,712 (GRCm39) |
T20M |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,472,695 (GRCm39) |
T397A |
probably benign |
Het |
Fanca |
A |
T |
8: 124,013,216 (GRCm39) |
I859N |
probably damaging |
Het |
Fzd1 |
A |
T |
5: 4,805,980 (GRCm39) |
V534D |
probably damaging |
Het |
Glmp |
A |
G |
3: 88,233,917 (GRCm39) |
Y258C |
probably damaging |
Het |
Gm9195 |
G |
A |
14: 72,711,626 (GRCm39) |
P329S |
probably damaging |
Het |
Gpt |
A |
G |
15: 76,583,199 (GRCm39) |
R379G |
probably benign |
Het |
Gsdmc2 |
T |
C |
15: 63,696,903 (GRCm39) |
T423A |
probably damaging |
Het |
Hemgn |
T |
C |
4: 46,397,054 (GRCm39) |
K61E |
possibly damaging |
Het |
Ikzf4 |
A |
T |
10: 128,479,759 (GRCm39) |
S56T |
possibly damaging |
Het |
Jak1 |
T |
C |
4: 101,032,332 (GRCm39) |
T425A |
probably benign |
Het |
Jsrp1 |
T |
C |
10: 80,646,319 (GRCm39) |
T80A |
probably benign |
Het |
Klra9 |
T |
A |
6: 130,165,643 (GRCm39) |
D124V |
possibly damaging |
Het |
Lama5 |
A |
T |
2: 179,843,970 (GRCm39) |
V397D |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,302,877 (GRCm39) |
S2951P |
probably benign |
Het |
Map7d1 |
A |
G |
4: 126,149,808 (GRCm39) |
|
probably null |
Het |
Mcm6 |
A |
T |
1: 128,265,864 (GRCm39) |
C636S |
probably damaging |
Het |
Mia |
T |
C |
7: 26,880,358 (GRCm39) |
E39G |
possibly damaging |
Het |
Mpeg1 |
T |
A |
19: 12,440,258 (GRCm39) |
I572N |
probably damaging |
Het |
Muc21 |
AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC |
AGCTGGATACAGTGGTGGTC |
17: 35,932,105 (GRCm39) |
|
probably benign |
Het |
Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
Mup5 |
A |
G |
4: 61,751,992 (GRCm39) |
Y86H |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,954,104 (GRCm39) |
V816D |
probably benign |
Het |
Nfib |
T |
C |
4: 82,215,052 (GRCm39) |
|
probably null |
Het |
Nynrin |
G |
C |
14: 56,110,190 (GRCm39) |
E1766Q |
probably damaging |
Het |
Or7d9 |
A |
T |
9: 20,197,100 (GRCm39) |
Y43F |
probably benign |
Het |
Oxct1 |
T |
A |
15: 4,123,524 (GRCm39) |
L328Q |
probably damaging |
Het |
Pax5 |
T |
A |
4: 44,679,485 (GRCm39) |
I187F |
possibly damaging |
Het |
Pcdhb4 |
A |
T |
18: 37,442,292 (GRCm39) |
D534V |
probably damaging |
Het |
Pebp4 |
C |
T |
14: 70,085,046 (GRCm39) |
P35S |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,386,949 (GRCm39) |
V1274E |
possibly damaging |
Het |
Plcz1 |
A |
T |
6: 139,956,150 (GRCm39) |
V373D |
probably benign |
Het |
Plxnb1 |
C |
T |
9: 108,929,243 (GRCm39) |
T33I |
probably damaging |
Het |
Prag1 |
T |
C |
8: 36,613,915 (GRCm39) |
C1156R |
probably benign |
Het |
Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
Rbp4 |
G |
A |
19: 38,112,551 (GRCm39) |
T138I |
possibly damaging |
Het |
Semp2l2b |
A |
G |
10: 21,943,785 (GRCm39) |
L65P |
probably damaging |
Het |
Slc12a1 |
A |
T |
2: 125,042,542 (GRCm39) |
N733Y |
possibly damaging |
Het |
Slc27a3 |
A |
G |
3: 90,297,033 (GRCm39) |
V22A |
probably benign |
Het |
Tcaf1 |
T |
C |
6: 42,651,973 (GRCm39) |
|
probably null |
Het |
Tnc |
T |
C |
4: 63,889,392 (GRCm39) |
|
probably null |
Het |
Tspan31 |
A |
T |
10: 126,903,987 (GRCm39) |
*211R |
probably null |
Het |
Ttc17 |
A |
T |
2: 94,192,773 (GRCm39) |
V86D |
possibly damaging |
Het |
Ubr1 |
T |
A |
2: 120,734,558 (GRCm39) |
N1114I |
possibly damaging |
Het |
Ulk2 |
C |
T |
11: 61,674,457 (GRCm39) |
G850R |
probably benign |
Het |
Vmn1r13 |
T |
A |
6: 57,187,141 (GRCm39) |
I100N |
probably benign |
Het |
Zan |
T |
C |
5: 137,426,240 (GRCm39) |
D2512G |
unknown |
Het |
Zc3h14 |
A |
T |
12: 98,737,615 (GRCm39) |
N34I |
probably damaging |
Het |
Zcwpw1 |
T |
G |
5: 137,810,346 (GRCm39) |
L374R |
probably damaging |
Het |
Zfp747l1 |
A |
T |
7: 126,983,518 (GRCm39) |
I528K |
possibly 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 |
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'- ACAGCTGTGCAGTGAAGTTG -3'
(R):5'- TGGTACCATGGAGCCACAAAC -3'
Sequencing Primer
(F):5'- GGGGAGGGTTGTGATGGTC -3'
(R):5'- GGAGCCACAAACTTTACTGATTC -3'
|
Posted On |
2019-06-26 |