Incidental Mutation 'R9161:Nlrc5'
| ID |
695705 |
| 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 # |
R9161 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 95213274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 883
(H883P)
|
| 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 damaging
Transcript: ENSMUST00000053085
AA Change: H883P
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: H883P
| 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: H883P
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183132
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211816
AA Change: H883P
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (58/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
A |
8: 13,272,270 (GRCm39) |
N1496I |
probably damaging |
Het |
| Arglu1 |
T |
C |
8: 8,733,941 (GRCm39) |
E125G |
possibly damaging |
Het |
| Atad2 |
A |
T |
15: 57,989,185 (GRCm39) |
I225N |
possibly damaging |
Het |
| Atrn |
T |
C |
2: 130,777,470 (GRCm39) |
F173S |
probably damaging |
Het |
| BC024063 |
T |
A |
10: 81,945,044 (GRCm39) |
H221Q |
probably benign |
Het |
| Bnip5 |
T |
A |
17: 29,128,387 (GRCm39) |
K175N |
probably damaging |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cdh24 |
A |
T |
14: 54,876,097 (GRCm39) |
Y182N |
probably damaging |
Het |
| Cdkl4 |
A |
G |
17: 80,851,120 (GRCm39) |
L194P |
probably damaging |
Het |
| Cep152 |
T |
A |
2: 125,408,574 (GRCm39) |
R1327* |
probably null |
Het |
| Ckap5 |
A |
T |
2: 91,445,653 (GRCm39) |
M1797L |
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,474,651 (GRCm39) |
N895I |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cotl1 |
G |
T |
8: 120,549,456 (GRCm39) |
D85E |
probably benign |
Het |
| Cryba4 |
A |
C |
5: 112,396,039 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
A |
G |
12: 110,625,023 (GRCm39) |
K3817E |
probably benign |
Het |
| Ehd3 |
A |
T |
17: 74,134,480 (GRCm39) |
R280* |
probably null |
Het |
| Erp29 |
T |
C |
5: 121,583,146 (GRCm39) |
E260G |
possibly damaging |
Het |
| Fam135b |
T |
A |
15: 71,334,417 (GRCm39) |
R926W |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,192,270 (GRCm39) |
N1413S |
probably damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,251,727 (GRCm39) |
V262A |
probably damaging |
Het |
| Gabrb1 |
A |
G |
5: 72,187,199 (GRCm39) |
D164G |
probably damaging |
Het |
| Galnt15 |
T |
A |
14: 31,780,116 (GRCm39) |
I471N |
probably damaging |
Het |
| Get1 |
A |
T |
16: 95,953,139 (GRCm39) |
R77W |
probably damaging |
Het |
| Gon4l |
A |
G |
3: 88,808,955 (GRCm39) |
N1733S |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,242,758 (GRCm39) |
T562A |
probably benign |
Het |
| Inha |
A |
G |
1: 75,484,144 (GRCm39) |
I85V |
probably damaging |
Het |
| Kif28 |
A |
C |
1: 179,526,244 (GRCm39) |
V897G |
probably benign |
Het |
| Map1s |
G |
A |
8: 71,366,250 (GRCm39) |
R385H |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,477,503 (GRCm39) |
V1750A |
possibly damaging |
Het |
| Mbd1 |
C |
T |
18: 74,407,792 (GRCm39) |
P273L |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,352,172 (GRCm39) |
T1226A |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,353,026 (GRCm39) |
C791S |
possibly damaging |
Het |
| Nrip3 |
C |
T |
7: 109,365,777 (GRCm39) |
R91H |
probably damaging |
Het |
| Or10w1 |
G |
A |
19: 13,632,038 (GRCm39) |
V82M |
probably damaging |
Het |
| Or12j3 |
C |
T |
7: 139,952,989 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or51a10 |
C |
A |
7: 103,699,725 (GRCm39) |
|
probably benign |
Het |
| Or8g21 |
A |
T |
9: 38,905,816 (GRCm39) |
I305K |
possibly damaging |
Het |
| Or8k16 |
A |
G |
2: 85,520,231 (GRCm39) |
T153A |
probably benign |
Het |
| Pdgfrb |
T |
G |
18: 61,197,053 (GRCm39) |
L163R |
probably damaging |
Het |
| Pik3ip1 |
G |
T |
11: 3,281,945 (GRCm39) |
R34L |
possibly damaging |
Het |
| Pip4k2b |
A |
G |
11: 97,615,245 (GRCm39) |
F205S |
possibly damaging |
Het |
| Pttg1ip |
A |
C |
10: 77,425,487 (GRCm39) |
N60T |
probably benign |
Het |
| Rab3ip |
C |
T |
10: 116,750,066 (GRCm39) |
E356K |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,076,682 (GRCm39) |
N249D |
probably benign |
Het |
| Rd3l |
T |
C |
12: 111,946,753 (GRCm39) |
K8E |
probably damaging |
Het |
| Rnf32 |
A |
G |
5: 29,408,058 (GRCm39) |
K96E |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACCGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
A |
G |
5: 31,685,474 (GRCm39) |
K251E |
|
Het |
| Spink5 |
T |
A |
18: 44,147,986 (GRCm39) |
N875K |
probably damaging |
Het |
| Taf6 |
G |
T |
5: 138,178,160 (GRCm39) |
A447D |
probably benign |
Het |
| Tbxas1 |
A |
T |
6: 38,999,989 (GRCm39) |
I259F |
probably damaging |
Het |
| Tcap |
G |
T |
11: 98,275,256 (GRCm39) |
R130L |
probably damaging |
Het |
| Tyms |
T |
C |
5: 30,266,040 (GRCm39) |
E293G |
|
Het |
| Vmn1r20 |
C |
A |
6: 57,408,759 (GRCm39) |
F28L |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,864 (GRCm39) |
D308E |
|
Het |
| Vmn2r69 |
T |
A |
7: 85,056,177 (GRCm39) |
I654F |
possibly damaging |
Het |
| Zfp990 |
G |
T |
4: 145,261,509 (GRCm39) |
V52L |
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 |
|
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 |
|
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'- TGCCACAAGTGTGTAAGTACC -3'
(R):5'- GTATAATCAACACCCAAACTTAGCTGG -3'
Sequencing Primer
(F):5'- TGTGTAAGTACCAAGGCCATTGC -3'
(R):5'- GATAGATGCTGCTACTATTGCTGACC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation