Incidental Mutation 'R0077:Nlrc4'
ID |
19516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrc4
|
Ensembl Gene |
ENSMUSG00000039193 |
Gene Name |
NLR family, CARD domain containing 4 |
Synonyms |
9530011P19Rik, Card12, Ipaf |
MMRRC Submission |
038364-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R0077 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
74733254-74766140 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74753826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 186
(W186R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052124]
|
AlphaFold |
Q3UP24 |
PDB Structure |
Crystal structure of NLRC4 reveals its autoinhibition mechanism [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052124
AA Change: W186R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059637 Gene: ENSMUSG00000039193 AA Change: W186R
Domain | Start | End | E-Value | Type |
Pfam:CARD
|
1 |
87 |
1.4e-20 |
PFAM |
Pfam:NACHT
|
163 |
314 |
1.3e-28 |
PFAM |
SCOP:d1yrga_
|
734 |
1015 |
3e-20 |
SMART |
|
Meta Mutation Damage Score |
0.7872 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.4%
- 20x: 90.5%
|
Validation Efficiency |
83% (159/192) |
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. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] PHENOTYPE: Homozygotes for a null allele show lack of caspase-1 activation in macrophages infected with Legionella and Salmonella, and enhanced permissivity to Legionella replication. Homozygotes for another null allele fail to show caspase dependent cell death andIL-1beta secretion upon Salmonella infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
T |
C |
5: 81,919,532 (GRCm39) |
|
probably benign |
Het |
Adgrl4 |
A |
G |
3: 151,223,418 (GRCm39) |
I624V |
probably damaging |
Het |
AI661453 |
A |
G |
17: 47,780,287 (GRCm39) |
|
probably benign |
Het |
Alg12 |
C |
T |
15: 88,700,181 (GRCm39) |
E60K |
probably damaging |
Het |
Angel2 |
A |
T |
1: 190,665,284 (GRCm39) |
N72Y |
possibly damaging |
Het |
Ank1 |
C |
A |
8: 23,630,183 (GRCm39) |
P81Q |
probably damaging |
Het |
Atp6v1c2 |
A |
T |
12: 17,371,613 (GRCm39) |
D61E |
probably damaging |
Het |
Bpi |
T |
A |
2: 158,103,254 (GRCm39) |
M83K |
probably damaging |
Het |
Capn7 |
A |
G |
14: 31,090,072 (GRCm39) |
I642V |
probably benign |
Het |
Ccdc134 |
T |
C |
15: 82,015,938 (GRCm39) |
|
probably benign |
Het |
Ccr3 |
C |
T |
9: 123,829,061 (GRCm39) |
T132I |
probably damaging |
Het |
Cfap65 |
C |
A |
1: 74,971,077 (GRCm39) |
W80C |
probably damaging |
Het |
Chaf1a |
T |
A |
17: 56,354,384 (GRCm39) |
I218K |
unknown |
Het |
Ddx23 |
A |
G |
15: 98,554,481 (GRCm39) |
|
probably null |
Het |
Dmkn |
A |
G |
7: 30,464,719 (GRCm39) |
S231G |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,525,514 (GRCm39) |
I1446T |
unknown |
Het |
Fmnl1 |
T |
C |
11: 103,080,795 (GRCm39) |
F318S |
probably damaging |
Het |
Grik5 |
A |
T |
7: 24,722,805 (GRCm39) |
V497E |
probably damaging |
Het |
Gtf2ird2 |
T |
C |
5: 134,242,925 (GRCm39) |
Y380H |
probably damaging |
Het |
Hecw2 |
C |
T |
1: 53,907,990 (GRCm39) |
|
probably benign |
Het |
Hspb7 |
A |
G |
4: 141,151,358 (GRCm39) |
I167V |
probably damaging |
Het |
Kcnh2 |
T |
A |
5: 24,527,700 (GRCm39) |
N884I |
probably benign |
Het |
Krba1 |
T |
C |
6: 48,382,159 (GRCm39) |
|
probably benign |
Het |
Krt18 |
G |
T |
15: 101,939,409 (GRCm39) |
R294L |
probably benign |
Het |
Lctl |
T |
A |
9: 64,029,389 (GRCm39) |
M1K |
probably null |
Het |
Lingo2 |
G |
A |
4: 35,708,375 (GRCm39) |
S535F |
possibly damaging |
Het |
Lrba |
A |
C |
3: 86,449,995 (GRCm39) |
N2105H |
probably damaging |
Het |
Lrrc10 |
A |
G |
10: 116,881,419 (GRCm39) |
D31G |
probably damaging |
Het |
Lrrtm1 |
T |
A |
6: 77,220,855 (GRCm39) |
V104E |
probably damaging |
Het |
Mgat3 |
C |
T |
15: 80,096,778 (GRCm39) |
T535I |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,552,503 (GRCm39) |
I1780V |
possibly damaging |
Het |
Nr2c1 |
T |
A |
10: 94,024,117 (GRCm39) |
F441I |
probably benign |
Het |
Obscn |
A |
G |
11: 58,942,347 (GRCm39) |
|
probably benign |
Het |
Or1p1 |
T |
C |
11: 74,179,501 (GRCm39) |
F10L |
probably benign |
Het |
Or2a56 |
T |
C |
6: 42,932,707 (GRCm39) |
S92P |
probably benign |
Het |
Or56b34 |
T |
C |
7: 104,937,726 (GRCm39) |
V142A |
probably damaging |
Het |
Or5au1 |
T |
C |
14: 52,273,442 (GRCm39) |
N42S |
possibly damaging |
Het |
Osr1 |
A |
T |
12: 9,629,691 (GRCm39) |
Y188F |
probably damaging |
Het |
Pak2 |
A |
T |
16: 31,852,661 (GRCm39) |
N293K |
possibly damaging |
Het |
Pappa |
A |
T |
4: 65,226,049 (GRCm39) |
T1301S |
probably damaging |
Het |
Pde4dip |
G |
A |
3: 97,660,442 (GRCm39) |
Q679* |
probably null |
Het |
Pik3r5 |
T |
A |
11: 68,377,448 (GRCm39) |
|
probably null |
Het |
Plbd2 |
C |
T |
5: 120,624,104 (GRCm39) |
|
probably null |
Het |
Ppp1r3a |
G |
T |
6: 14,754,516 (GRCm39) |
P244T |
possibly damaging |
Het |
Pum1 |
C |
A |
4: 130,499,985 (GRCm39) |
R960S |
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,315,169 (GRCm39) |
Y845H |
probably damaging |
Het |
Rbms1 |
A |
T |
2: 60,589,179 (GRCm39) |
M287K |
possibly damaging |
Het |
Rdh1 |
A |
T |
10: 127,595,906 (GRCm39) |
I34F |
probably damaging |
Het |
Rgl3 |
T |
A |
9: 21,885,398 (GRCm39) |
Q644L |
probably benign |
Het |
Rpap2 |
T |
C |
5: 107,768,340 (GRCm39) |
S393P |
probably damaging |
Het |
Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
S100a11 |
A |
C |
3: 93,431,509 (GRCm39) |
|
probably null |
Het |
Septin4 |
T |
C |
11: 87,472,022 (GRCm39) |
S11P |
probably benign |
Het |
Serpina1c |
T |
C |
12: 103,862,350 (GRCm39) |
S322G |
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,248,762 (GRCm39) |
C385S |
probably damaging |
Het |
Shank2 |
A |
T |
7: 143,746,204 (GRCm39) |
I193F |
possibly damaging |
Het |
Slc4a11 |
G |
T |
2: 130,528,221 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Tbcd |
C |
A |
11: 121,485,100 (GRCm39) |
Q761K |
probably benign |
Het |
Tmed6 |
C |
T |
8: 107,792,198 (GRCm39) |
V16M |
probably damaging |
Het |
Tmem229a |
T |
C |
6: 24,955,701 (GRCm39) |
T18A |
probably benign |
Het |
Tsc1 |
T |
A |
2: 28,568,955 (GRCm39) |
|
probably benign |
Het |
Ube2m |
T |
C |
7: 12,769,657 (GRCm39) |
N49D |
probably damaging |
Het |
Ubqlnl |
T |
C |
7: 103,799,254 (GRCm39) |
D81G |
probably damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,449,332 (GRCm39) |
V302A |
probably benign |
Het |
Vmn2r73 |
T |
A |
7: 85,525,075 (GRCm39) |
R24S |
probably benign |
Het |
Wfs1 |
C |
A |
5: 37,130,538 (GRCm39) |
S236I |
probably damaging |
Het |
Xpot |
A |
T |
10: 121,441,544 (GRCm39) |
N560K |
probably benign |
Het |
Yipf3 |
A |
G |
17: 46,562,503 (GRCm39) |
T303A |
probably benign |
Het |
Zfp790 |
T |
C |
7: 29,524,300 (GRCm39) |
W19R |
probably damaging |
Het |
Zfp846 |
T |
C |
9: 20,505,303 (GRCm39) |
C388R |
probably benign |
Het |
Zpr1 |
T |
A |
9: 46,184,634 (GRCm39) |
I47N |
probably damaging |
Het |
|
Other mutations in Nlrc4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00392:Nlrc4
|
APN |
17 |
74,753,529 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00427:Nlrc4
|
APN |
17 |
74,754,087 (GRCm39) |
missense |
probably benign |
|
IGL00823:Nlrc4
|
APN |
17 |
74,754,985 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01404:Nlrc4
|
APN |
17 |
74,752,706 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02178:Nlrc4
|
APN |
17 |
74,753,838 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02266:Nlrc4
|
APN |
17 |
74,753,162 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL03342:Nlrc4
|
APN |
17 |
74,752,313 (GRCm39) |
missense |
probably damaging |
1.00 |
Inwood
|
UTSW |
17 |
74,752,625 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4305001:Nlrc4
|
UTSW |
17 |
74,753,304 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4466001:Nlrc4
|
UTSW |
17 |
74,734,114 (GRCm39) |
missense |
probably benign |
0.01 |
R0398:Nlrc4
|
UTSW |
17 |
74,752,915 (GRCm39) |
missense |
probably damaging |
0.99 |
R0639:Nlrc4
|
UTSW |
17 |
74,733,958 (GRCm39) |
missense |
probably benign |
0.16 |
R1498:Nlrc4
|
UTSW |
17 |
74,753,408 (GRCm39) |
missense |
probably benign |
0.43 |
R1565:Nlrc4
|
UTSW |
17 |
74,748,926 (GRCm39) |
missense |
probably benign |
0.00 |
R1624:Nlrc4
|
UTSW |
17 |
74,752,184 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1666:Nlrc4
|
UTSW |
17 |
74,752,901 (GRCm39) |
missense |
probably damaging |
0.97 |
R1668:Nlrc4
|
UTSW |
17 |
74,752,901 (GRCm39) |
missense |
probably damaging |
0.97 |
R1690:Nlrc4
|
UTSW |
17 |
74,744,518 (GRCm39) |
nonsense |
probably null |
|
R1723:Nlrc4
|
UTSW |
17 |
74,748,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R1988:Nlrc4
|
UTSW |
17 |
74,733,938 (GRCm39) |
missense |
probably benign |
0.09 |
R1992:Nlrc4
|
UTSW |
17 |
74,752,628 (GRCm39) |
missense |
probably benign |
0.04 |
R2141:Nlrc4
|
UTSW |
17 |
74,754,946 (GRCm39) |
splice site |
probably benign |
|
R2256:Nlrc4
|
UTSW |
17 |
74,752,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R2897:Nlrc4
|
UTSW |
17 |
74,755,040 (GRCm39) |
missense |
probably benign |
|
R3117:Nlrc4
|
UTSW |
17 |
74,743,063 (GRCm39) |
missense |
probably benign |
0.00 |
R3861:Nlrc4
|
UTSW |
17 |
74,752,616 (GRCm39) |
missense |
probably benign |
0.00 |
R4093:Nlrc4
|
UTSW |
17 |
74,752,953 (GRCm39) |
missense |
probably benign |
0.20 |
R4212:Nlrc4
|
UTSW |
17 |
74,754,110 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4627:Nlrc4
|
UTSW |
17 |
74,753,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R4859:Nlrc4
|
UTSW |
17 |
74,743,032 (GRCm39) |
missense |
probably damaging |
0.97 |
R4968:Nlrc4
|
UTSW |
17 |
74,753,936 (GRCm39) |
missense |
probably benign |
0.20 |
R5133:Nlrc4
|
UTSW |
17 |
74,753,712 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5379:Nlrc4
|
UTSW |
17 |
74,755,078 (GRCm39) |
nonsense |
probably null |
|
R6045:Nlrc4
|
UTSW |
17 |
74,753,954 (GRCm39) |
missense |
probably damaging |
0.98 |
R6654:Nlrc4
|
UTSW |
17 |
74,752,523 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6712:Nlrc4
|
UTSW |
17 |
74,753,831 (GRCm39) |
missense |
probably damaging |
0.96 |
R6976:Nlrc4
|
UTSW |
17 |
74,752,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R7030:Nlrc4
|
UTSW |
17 |
74,753,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R7153:Nlrc4
|
UTSW |
17 |
74,754,098 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7190:Nlrc4
|
UTSW |
17 |
74,752,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R7398:Nlrc4
|
UTSW |
17 |
74,753,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R7417:Nlrc4
|
UTSW |
17 |
74,753,483 (GRCm39) |
missense |
probably benign |
0.18 |
R7468:Nlrc4
|
UTSW |
17 |
74,752,507 (GRCm39) |
missense |
probably benign |
0.00 |
R7639:Nlrc4
|
UTSW |
17 |
74,754,952 (GRCm39) |
critical splice donor site |
probably null |
|
R7716:Nlrc4
|
UTSW |
17 |
74,753,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R7757:Nlrc4
|
UTSW |
17 |
74,755,191 (GRCm39) |
missense |
probably benign |
0.00 |
R7868:Nlrc4
|
UTSW |
17 |
74,755,047 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7890:Nlrc4
|
UTSW |
17 |
74,744,503 (GRCm39) |
missense |
probably benign |
0.00 |
R7920:Nlrc4
|
UTSW |
17 |
74,734,114 (GRCm39) |
missense |
probably benign |
0.01 |
R7950:Nlrc4
|
UTSW |
17 |
74,752,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R8154:Nlrc4
|
UTSW |
17 |
74,752,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R8168:Nlrc4
|
UTSW |
17 |
74,752,206 (GRCm39) |
missense |
probably benign |
0.01 |
R8311:Nlrc4
|
UTSW |
17 |
74,753,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R8716:Nlrc4
|
UTSW |
17 |
74,752,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R9502:Nlrc4
|
UTSW |
17 |
74,752,580 (GRCm39) |
missense |
probably benign |
0.37 |
R9514:Nlrc4
|
UTSW |
17 |
74,753,736 (GRCm39) |
missense |
probably benign |
0.03 |
X0026:Nlrc4
|
UTSW |
17 |
74,753,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGTGTAGCTTCAGCAGCAGAGCC -3'
(R):5'- GAGCTTTGAGATGCAAATCATGCCG -3'
Sequencing Primer
(F):5'- CAGCAGAGCCTTGAAGGTC -3'
(R):5'- AAGACCTGAATGTTTTGGCCC -3'
|
Posted On |
2013-04-11 |