Incidental Mutation 'R7190:Nlrc4'
| ID |
559564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc4
|
| Ensembl Gene |
ENSMUSG00000039193 |
| Gene Name |
NLR family, CARD domain containing 4 |
| Synonyms |
9530011P19Rik, Card12, Ipaf |
| MMRRC Submission |
045273-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R7190 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
74733254-74766140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 74752198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 728
(D728E)
|
| 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: D728E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: D728E
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Add3 |
C |
T |
19: 53,205,330 (GRCm39) |
R27* |
probably null |
Het |
| Armc3 |
T |
A |
2: 19,297,947 (GRCm39) |
Y573N |
probably damaging |
Het |
| Bod1l |
A |
C |
5: 41,977,281 (GRCm39) |
N1344K |
probably benign |
Het |
| Camta1 |
T |
G |
4: 151,232,980 (GRCm39) |
N231T |
possibly damaging |
Het |
| Capza2 |
T |
A |
6: 17,654,120 (GRCm39) |
Y57* |
probably null |
Het |
| Ccdc168 |
A |
C |
1: 44,100,775 (GRCm39) |
S108A |
probably benign |
Het |
| Ccdc186 |
T |
A |
19: 56,780,432 (GRCm39) |
I871F |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,359,574 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
T |
11: 69,439,923 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
T |
C |
18: 25,223,812 (GRCm39) |
F1053L |
probably damaging |
Het |
| Foxj1 |
A |
G |
11: 116,223,201 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Gatad2b |
T |
A |
3: 90,257,722 (GRCm39) |
I210N |
probably benign |
Het |
| Gba1 |
T |
A |
3: 89,111,669 (GRCm39) |
I112N |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,339,208 (GRCm39) |
V420A |
probably benign |
Het |
| Golga3 |
T |
A |
5: 110,357,721 (GRCm39) |
H1072Q |
probably damaging |
Het |
| Gpr150 |
C |
T |
13: 76,203,992 (GRCm39) |
A318T |
probably benign |
Het |
| Gpr6 |
T |
C |
10: 40,946,956 (GRCm39) |
N209D |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,709,946 (GRCm39) |
N1200S |
possibly damaging |
Het |
| Ifi207 |
G |
A |
1: 173,557,818 (GRCm39) |
H307Y |
unknown |
Het |
| Il20ra |
A |
T |
10: 19,618,689 (GRCm39) |
I46F |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,033,570 (GRCm39) |
D927G |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,598,040 (GRCm39) |
D630G |
probably benign |
Het |
| Or1e19 |
A |
T |
11: 73,315,990 (GRCm39) |
I273N |
probably benign |
Het |
| Or6c5c |
T |
C |
10: 129,298,626 (GRCm39) |
I27T |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,729,743 (GRCm39) |
A2867D |
unknown |
Het |
| Perm1 |
A |
G |
4: 156,304,272 (GRCm39) |
T754A |
possibly damaging |
Het |
| Plpbp |
G |
T |
8: 27,541,325 (GRCm39) |
V162L |
probably benign |
Het |
| Plscr4 |
A |
T |
9: 92,370,694 (GRCm39) |
E220D |
probably benign |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,726 (GRCm39) |
M199K |
probably benign |
Het |
| Pramel38 |
T |
G |
5: 94,366,096 (GRCm39) |
N71K |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,754,666 (GRCm39) |
E204G |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,252,945 (GRCm39) |
D667E |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,695,410 (GRCm39) |
I462V |
unknown |
Het |
| Rpain |
A |
G |
11: 70,862,735 (GRCm39) |
E76G |
possibly damaging |
Het |
| Strc |
T |
G |
2: 121,199,507 (GRCm39) |
I1311L |
probably benign |
Het |
| Svil |
A |
G |
18: 5,092,937 (GRCm39) |
M1385V |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,113,361 (GRCm39) |
D1083E |
probably benign |
Het |
| Szt2 |
T |
A |
4: 118,246,203 (GRCm39) |
H986L |
probably damaging |
Het |
| Tcl1b2 |
G |
T |
12: 105,113,493 (GRCm39) |
|
probably null |
Het |
| Thy1 |
T |
A |
9: 43,958,222 (GRCm39) |
S117T |
possibly damaging |
Het |
| Tmem183a |
A |
T |
1: 134,282,496 (GRCm39) |
I203N |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,644,491 (GRCm39) |
I118V |
probably benign |
Het |
| Tsen34 |
T |
C |
7: 3,697,806 (GRCm39) |
V69A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,717,143 (GRCm39) |
Q7506R |
unknown |
Het |
| Vmn1r184 |
T |
C |
7: 25,967,105 (GRCm39) |
S284P |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,398,205 (GRCm39) |
D810G |
probably benign |
Het |
| Zer1 |
T |
C |
2: 29,993,444 (GRCm39) |
D554G |
probably damaging |
Het |
| Zfp626 |
A |
T |
7: 27,517,768 (GRCm39) |
T250S |
probably benign |
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 |
|
R0077:Nlrc4
|
UTSW |
17 |
74,753,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ATAAGCCAGGCTCTGTGGTG -3'
(R):5'- GGTCACACTCCGAGATATTAACAAG -3'
Sequencing Primer
(F):5'- GTGCGCCCAGGACGTAAAAC -3'
(R):5'- ATCAAGAGATGTGCAGCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation