Incidental Mutation 'R5527:Nlrc5'
| ID |
431932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc5
|
| Ensembl Gene |
ENSMUSG00000074151 |
| Gene Name |
NLR family, CARD domain containing 5 |
| Synonyms |
AI451557 |
| MMRRC Submission |
043085-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5527 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95160984-95253900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95217044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1011
(H1011R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053085]
[ENSMUST00000182409]
[ENSMUST00000211816]
|
| AlphaFold |
C3VPR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053085
AA Change: H1011R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: H1011R
| 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 damaging
Transcript: ENSMUST00000182409
AA Change: H1011R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183132
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211816
AA Change: H1011R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.7%
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,278,842 (GRCm39) |
Y1051N |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,516,433 (GRCm39) |
S325P |
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,960,786 (GRCm39) |
S1529P |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,396,134 (GRCm39) |
L168P |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,303,318 (GRCm39) |
F153S |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,730,401 (GRCm39) |
M426T |
probably benign |
Het |
| Cdk7 |
C |
T |
13: 100,866,980 (GRCm39) |
V38I |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,764,440 (GRCm39) |
Y1324C |
probably damaging |
Het |
| Cplane2 |
C |
A |
4: 140,947,303 (GRCm39) |
A228D |
probably damaging |
Het |
| Ddx47 |
C |
A |
6: 134,988,657 (GRCm39) |
A18E |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,328,014 (GRCm39) |
Q3370* |
probably null |
Het |
| Dnah6 |
C |
T |
6: 73,136,212 (GRCm39) |
V976I |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,842,105 (GRCm39) |
|
probably benign |
Het |
| Dpy19l3 |
A |
T |
7: 35,413,555 (GRCm39) |
I362N |
possibly damaging |
Het |
| Fam118a |
A |
T |
15: 84,942,999 (GRCm39) |
T343S |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,793,060 (GRCm39) |
D1021E |
probably benign |
Het |
| Fkbp1b |
T |
C |
12: 4,883,746 (GRCm39) |
Y83C |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,525,581 (GRCm39) |
I709T |
probably damaging |
Het |
| Gga3 |
G |
T |
11: 115,478,262 (GRCm39) |
A510D |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,417,641 (GRCm39) |
I264T |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,419,829 (GRCm39) |
I384T |
probably benign |
Het |
| Hes2 |
T |
C |
4: 152,244,849 (GRCm39) |
V106A |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,857,569 (GRCm39) |
M1083K |
probably damaging |
Het |
| Il7r |
A |
T |
15: 9,513,010 (GRCm39) |
D166E |
probably benign |
Het |
| Ipo4 |
G |
A |
14: 55,869,507 (GRCm39) |
|
probably null |
Het |
| Klk1b26 |
T |
C |
7: 43,662,187 (GRCm39) |
I15T |
probably benign |
Het |
| Krt42 |
T |
C |
11: 100,154,121 (GRCm39) |
|
probably benign |
Het |
| Lag3 |
T |
C |
6: 124,885,592 (GRCm39) |
T263A |
probably damaging |
Het |
| Lilra6 |
T |
A |
7: 3,917,586 (GRCm39) |
|
probably benign |
Het |
| Lrrc31 |
T |
A |
3: 30,745,377 (GRCm39) |
H90L |
probably damaging |
Het |
| Lvrn |
G |
A |
18: 47,006,870 (GRCm39) |
D331N |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,924,187 (GRCm39) |
W342R |
probably damaging |
Het |
| Mob2 |
A |
G |
7: 141,563,147 (GRCm39) |
F220S |
probably damaging |
Het |
| Mroh4 |
A |
G |
15: 74,486,865 (GRCm39) |
I342T |
probably damaging |
Het |
| Naa15 |
T |
C |
3: 51,349,368 (GRCm39) |
Y46H |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,224,465 (GRCm39) |
V10A |
unknown |
Het |
| Nr1i3 |
A |
G |
1: 171,041,921 (GRCm39) |
T2A |
possibly damaging |
Het |
| Nrros |
T |
C |
16: 31,963,288 (GRCm39) |
N207S |
probably damaging |
Het |
| Or52m2 |
A |
T |
7: 102,263,768 (GRCm39) |
S143T |
probably benign |
Het |
| Or7c70 |
C |
T |
10: 78,683,609 (GRCm39) |
V47M |
probably benign |
Het |
| Pcare |
A |
T |
17: 72,059,635 (GRCm39) |
V14D |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,000,052 (GRCm39) |
T714I |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,416,616 (GRCm39) |
T1499A |
possibly damaging |
Het |
| Rubcn |
T |
C |
16: 32,647,081 (GRCm39) |
K771E |
probably damaging |
Het |
| Sbds |
T |
C |
5: 130,275,247 (GRCm39) |
E227G |
possibly damaging |
Het |
| Setd1a |
C |
T |
7: 127,384,801 (GRCm39) |
P8S |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,144,932 (GRCm39) |
I1129V |
probably benign |
Het |
| Spef1 |
T |
A |
2: 131,014,661 (GRCm39) |
D87V |
probably damaging |
Het |
| Supv3l1 |
C |
T |
10: 62,265,608 (GRCm39) |
R644Q |
probably damaging |
Het |
| Thoc6 |
A |
G |
17: 23,889,769 (GRCm39) |
F51S |
probably damaging |
Het |
| Tm4sf19 |
T |
C |
16: 32,226,739 (GRCm39) |
L176P |
probably damaging |
Het |
| Tma16 |
A |
G |
8: 66,936,776 (GRCm39) |
I17T |
possibly damaging |
Het |
| Tpd52l2 |
G |
A |
2: 181,143,847 (GRCm39) |
|
probably null |
Het |
| Ube2j1 |
C |
T |
4: 33,045,164 (GRCm39) |
P146S |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,208,099 (GRCm39) |
I4960N |
possibly damaging |
Het |
| Usp13 |
A |
G |
3: 32,919,987 (GRCm39) |
D224G |
probably damaging |
Het |
| Uxs1 |
T |
C |
1: 43,819,240 (GRCm39) |
T188A |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,234,483 (GRCm39) |
Y576* |
probably null |
Het |
| Vmn2r73 |
T |
C |
7: 85,507,575 (GRCm39) |
D579G |
possibly damaging |
Het |
| Xpr1 |
T |
C |
1: 155,165,981 (GRCm39) |
N524D |
probably benign |
Het |
| Xrn2 |
A |
T |
2: 146,871,675 (GRCm39) |
I366L |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,676,159 (GRCm39) |
V386E |
possibly damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,261 (GRCm39) |
L2261Q |
probably damaging |
Het |
| Zpld1 |
C |
G |
16: 55,046,725 (GRCm39) |
E415Q |
probably benign |
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 |
|
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'- ATGCTGTGTGTTAGTCCTCC -3'
(R):5'- AGAAAGTCACTGTCCCTCCC -3'
Sequencing Primer
(F):5'- TTCTCAATGCCATGTACCACAATC -3'
(R):5'- AACAGGACACCTGCATTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation