Incidental Mutation 'R5224:Nlrc5'
| ID |
402502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc5
|
| Ensembl Gene |
ENSMUSG00000074151 |
| Gene Name |
NLR family, CARD domain containing 5 |
| Synonyms |
AI451557 |
| MMRRC Submission |
042797-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5224 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 95220944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 1128
(A1128S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053085]
[ENSMUST00000182409]
[ENSMUST00000211816]
|
| AlphaFold |
C3VPR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053085
AA Change: A1128S
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: A1128S
| 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: A1128S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183132
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211816
AA Change: A1128S
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1342 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
CGTGACCTTTCTGGT |
CGT |
10: 85,481,386 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,862,921 (GRCm39) |
S699G |
probably damaging |
Het |
| Atp10d |
C |
T |
5: 72,426,669 (GRCm39) |
A959V |
probably benign |
Het |
| Axl |
T |
C |
7: 25,486,369 (GRCm39) |
M112V |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,696,450 (GRCm39) |
S1014R |
possibly damaging |
Het |
| Camk1g |
A |
T |
1: 193,037,342 (GRCm39) |
D119E |
probably damaging |
Het |
| Capn8 |
A |
C |
1: 182,424,554 (GRCm39) |
N117T |
probably damaging |
Het |
| Cct3 |
G |
A |
3: 88,204,532 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,752,080 (GRCm39) |
T1293A |
possibly damaging |
Het |
| Depdc1b |
A |
G |
13: 108,521,354 (GRCm39) |
D387G |
probably damaging |
Het |
| Dtx3l |
A |
G |
16: 35,759,163 (GRCm39) |
Y29H |
possibly damaging |
Het |
| Erp44 |
A |
T |
4: 48,279,435 (GRCm39) |
N2K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,195,470 (GRCm39) |
E390G |
unknown |
Het |
| Ganab |
T |
A |
19: 8,887,955 (GRCm39) |
D396E |
probably benign |
Het |
| Gatd3a |
A |
G |
10: 77,999,367 (GRCm39) |
V148A |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,121,982 (GRCm39) |
S1140T |
probably damaging |
Het |
| Gm7008 |
T |
C |
12: 40,273,342 (GRCm39) |
|
probably benign |
Het |
| Gphn |
T |
A |
12: 78,637,361 (GRCm39) |
F354I |
probably damaging |
Het |
| H2-T7 |
G |
A |
17: 36,454,231 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpul1 |
G |
A |
7: 25,444,600 (GRCm39) |
T236M |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,068,149 (GRCm39) |
M2410L |
probably benign |
Het |
| Jaml |
T |
A |
9: 45,015,564 (GRCm39) |
M356K |
probably damaging |
Het |
| Kbtbd12 |
T |
A |
6: 88,594,681 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
G |
T |
2: 101,943,954 (GRCm39) |
N39K |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 41,000,852 (GRCm39) |
T2238I |
possibly damaging |
Het |
| Lypd8 |
T |
A |
11: 58,277,634 (GRCm39) |
C139S |
possibly damaging |
Het |
| Masp1 |
G |
T |
16: 23,313,445 (GRCm39) |
H163Q |
probably damaging |
Het |
| Mpo |
T |
C |
11: 87,687,283 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
A |
T |
15: 91,825,910 (GRCm39) |
|
noncoding transcript |
Het |
| Muc5ac |
T |
A |
7: 141,347,708 (GRCm39) |
S438T |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,201,473 (GRCm39) |
V160A |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,117,401 (GRCm39) |
L375Q |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,256,717 (GRCm39) |
T112A |
probably benign |
Het |
| Nppa |
T |
C |
4: 148,085,773 (GRCm39) |
S127P |
probably damaging |
Het |
| Or8k24 |
A |
G |
2: 86,216,193 (GRCm39) |
S190P |
possibly damaging |
Het |
| Osbpl1a |
T |
C |
18: 13,066,753 (GRCm39) |
N2S |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,739,016 (GRCm39) |
T742A |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,347,249 (GRCm39) |
R1015G |
probably damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Plpp1 |
T |
A |
13: 112,988,046 (GRCm39) |
Y56* |
probably null |
Het |
| Ppp1r12a |
A |
G |
10: 108,096,886 (GRCm39) |
T236A |
probably benign |
Het |
| Rhag |
T |
C |
17: 41,139,395 (GRCm39) |
L110P |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,583,858 (GRCm39) |
N1586Y |
probably damaging |
Het |
| Sgms2 |
T |
A |
3: 131,135,766 (GRCm39) |
K36I |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,805,719 (GRCm39) |
N157D |
probably damaging |
Het |
| Stx19 |
T |
G |
16: 62,642,937 (GRCm39) |
M251R |
probably benign |
Het |
| Suco |
A |
G |
1: 161,662,274 (GRCm39) |
I719T |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,750,885 (GRCm39) |
D1282G |
probably damaging |
Het |
| Tram1 |
T |
C |
1: 13,648,349 (GRCm39) |
R154G |
probably benign |
Het |
| Ubtfl1 |
G |
T |
9: 18,321,326 (GRCm39) |
V285L |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,601 (GRCm39) |
S144P |
probably benign |
Het |
| Washc2 |
T |
G |
6: 116,185,965 (GRCm39) |
*58G |
probably null |
Het |
| Zfp354a |
T |
A |
11: 50,960,876 (GRCm39) |
S362R |
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 |
|
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 |
|
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'- GGAGCAGCTTTGATGTAGATATCG -3'
(R):5'- ACTGATGGGTCTCATAACTGGC -3'
Sequencing Primer
(F):5'- AGATATCGTGATGGCTGGTCACAG -3'
(R):5'- TCTCATAACTGGCAGAGTAGGGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation