Incidental Mutation 'R0622:Nlrc3'
| ID |
58754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc3
|
| Ensembl Gene |
ENSMUSG00000049871 |
| Gene Name |
NLR family, CARD domain containing 3 |
| Synonyms |
CLR16.2, D230007K08Rik, Caterpiller 16.2 |
| MMRRC Submission |
038811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R0622 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
3762871-3794496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3771832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 849
(R849Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177551]
[ENSMUST00000180200]
[ENSMUST00000229884]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000096308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163478
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177551
AA Change: R865Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: R865Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NACHT
|
176 |
342 |
2e-34 |
PFAM |
|
LRR
|
702 |
729 |
3.11e-2 |
SMART |
|
LRR
|
730 |
757 |
2.27e-4 |
SMART |
|
LRR
|
758 |
785 |
8.15e-1 |
SMART |
|
LRR
|
786 |
813 |
2.17e-1 |
SMART |
|
LRR
|
814 |
841 |
2.12e-4 |
SMART |
|
LRR
|
842 |
869 |
3.42e0 |
SMART |
|
LRR
|
870 |
897 |
7.67e-2 |
SMART |
|
LRR
|
898 |
925 |
3.21e0 |
SMART |
|
LRR
|
926 |
953 |
1.67e0 |
SMART |
|
LRR
|
954 |
981 |
4.87e-4 |
SMART |
|
LRR
|
982 |
1009 |
4.3e0 |
SMART |
|
LRR
|
1010 |
1037 |
3.8e-6 |
SMART |
|
LRR
|
1038 |
1065 |
4.47e-3 |
SMART |
|
LRR
|
1066 |
1093 |
1.08e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180200
AA Change: R160Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871
AA Change: R160Q
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
4 |
24 |
8.65e1 |
SMART |
|
LRR
|
25 |
52 |
2.27e-4 |
SMART |
|
LRR
|
53 |
80 |
8.15e-1 |
SMART |
|
LRR
|
81 |
108 |
2.17e-1 |
SMART |
|
LRR
|
109 |
136 |
2.12e-4 |
SMART |
|
LRR
|
137 |
164 |
3.42e0 |
SMART |
|
LRR
|
165 |
192 |
7.67e-2 |
SMART |
|
LRR
|
193 |
220 |
3.21e0 |
SMART |
|
LRR
|
221 |
248 |
1.67e0 |
SMART |
|
LRR
|
249 |
276 |
4.87e-4 |
SMART |
|
LRR
|
277 |
304 |
4.3e0 |
SMART |
|
LRR
|
305 |
332 |
3.8e-6 |
SMART |
|
LRR
|
333 |
360 |
4.47e-3 |
SMART |
|
LRR
|
361 |
388 |
1.08e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229884
AA Change: R849Q
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced susceptibility to LPS-induced toxic shock. [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 |
|---|
| Agtr1a |
T |
A |
13: 30,565,664 (GRCm39) |
M243K |
probably benign |
Het |
| Ap1b1 |
A |
G |
11: 4,987,707 (GRCm39) |
M744V |
probably damaging |
Het |
| Ccdc152 |
T |
C |
15: 3,327,660 (GRCm39) |
N39S |
probably damaging |
Het |
| Cd163 |
G |
A |
6: 124,294,311 (GRCm39) |
V490M |
probably damaging |
Het |
| Col6a5 |
G |
T |
9: 105,803,051 (GRCm39) |
H1305N |
unknown |
Het |
| Cpb1 |
C |
A |
3: 20,303,982 (GRCm39) |
D361Y |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,412,656 (GRCm39) |
Y1248F |
probably damaging |
Het |
| Dhdds |
G |
C |
4: 133,721,547 (GRCm39) |
F83L |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,582,845 (GRCm39) |
V161E |
possibly damaging |
Het |
| Exosc4 |
A |
G |
15: 76,211,736 (GRCm39) |
D15G |
probably damaging |
Het |
| F3 |
A |
T |
3: 121,518,668 (GRCm39) |
D44V |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,173,954 (GRCm39) |
F2253Y |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,220,944 (GRCm39) |
D650G |
possibly damaging |
Het |
| Gramd4 |
T |
A |
15: 85,975,590 (GRCm39) |
F36I |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,457 (GRCm39) |
A623T |
probably damaging |
Het |
| Gys1 |
A |
T |
7: 45,089,419 (GRCm39) |
T193S |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,486,688 (GRCm39) |
T3228A |
possibly damaging |
Het |
| Itpk1 |
G |
T |
12: 102,540,239 (GRCm39) |
D281E |
probably damaging |
Het |
| Kcnh7 |
A |
C |
2: 62,667,633 (GRCm39) |
|
probably null |
Het |
| Klhl29 |
A |
G |
12: 5,131,224 (GRCm39) |
L852P |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,033,491 (GRCm39) |
Y509C |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,618,563 (GRCm39) |
|
probably null |
Het |
| Mcpt4 |
C |
A |
14: 56,298,119 (GRCm39) |
R144L |
probably benign |
Het |
| Mia2 |
C |
T |
12: 59,178,364 (GRCm39) |
R12W |
probably damaging |
Het |
| Mrps5 |
A |
G |
2: 127,436,451 (GRCm39) |
K116R |
probably benign |
Het |
| Myrf |
G |
A |
19: 10,200,816 (GRCm39) |
P286S |
probably damaging |
Het |
| Nanp |
A |
G |
2: 150,881,164 (GRCm39) |
M28T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,102,963 (GRCm39) |
I4472V |
probably benign |
Het |
| Nfix |
A |
C |
8: 85,453,111 (GRCm39) |
N314K |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,075,047 (GRCm39) |
V786M |
probably damaging |
Het |
| Or2t44 |
T |
C |
11: 58,677,167 (GRCm39) |
S36P |
probably damaging |
Het |
| Or52ad1 |
A |
G |
7: 102,996,064 (GRCm39) |
S24P |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,598 (GRCm39) |
I163T |
possibly damaging |
Het |
| Or8c20 |
A |
G |
9: 38,260,667 (GRCm39) |
N96S |
possibly damaging |
Het |
| Pdia4 |
A |
T |
6: 47,783,452 (GRCm39) |
F197Y |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,627,149 (GRCm39) |
D432G |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,490,701 (GRCm39) |
E116G |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,881,355 (GRCm39) |
V1173A |
probably benign |
Het |
| Pou2f3 |
C |
T |
9: 43,036,414 (GRCm39) |
R423H |
probably damaging |
Het |
| Pramel29 |
T |
C |
4: 143,939,583 (GRCm39) |
|
probably benign |
Het |
| Prkag2 |
T |
C |
5: 25,074,247 (GRCm39) |
N246S |
probably damaging |
Het |
| Proser1 |
A |
G |
3: 53,385,281 (GRCm39) |
S388G |
probably benign |
Het |
| Ralgps1 |
G |
A |
2: 33,064,459 (GRCm39) |
R238* |
probably null |
Het |
| Rfx2 |
T |
C |
17: 57,084,071 (GRCm39) |
D657G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,492,900 (GRCm39) |
F3724S |
probably damaging |
Het |
| Sh2d5 |
T |
C |
4: 137,986,539 (GRCm39) |
S421P |
probably damaging |
Het |
| Slc34a1 |
C |
A |
13: 23,996,594 (GRCm39) |
T33K |
probably damaging |
Het |
| St8sia5 |
A |
G |
18: 77,333,809 (GRCm39) |
T156A |
probably damaging |
Het |
| Stk32c |
T |
C |
7: 138,768,026 (GRCm39) |
D85G |
probably benign |
Het |
| Tnks |
A |
G |
8: 35,407,976 (GRCm39) |
S251P |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,937,703 (GRCm39) |
L3864Q |
probably damaging |
Het |
| Trim9 |
A |
G |
12: 70,393,378 (GRCm39) |
Y189H |
probably damaging |
Het |
| Vmn1r77 |
T |
G |
7: 11,775,315 (GRCm39) |
F30L |
probably benign |
Het |
| Wasf3 |
A |
G |
5: 146,403,602 (GRCm39) |
|
probably null |
Het |
| Wdr90 |
C |
T |
17: 26,074,632 (GRCm39) |
C603Y |
probably damaging |
Het |
| Zdhhc25 |
T |
C |
15: 88,485,310 (GRCm39) |
L215P |
probably damaging |
Het |
| Zeb1 |
C |
T |
18: 5,759,123 (GRCm39) |
Q140* |
probably null |
Het |
| Zfp677 |
C |
T |
17: 21,617,962 (GRCm39) |
L340F |
probably benign |
Het |
|
| Other mutations in Nlrc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Nlrc3
|
APN |
16 |
3,773,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00943:Nlrc3
|
APN |
16 |
3,782,981 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01481:Nlrc3
|
APN |
16 |
3,781,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01517:Nlrc3
|
APN |
16 |
3,765,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01988:Nlrc3
|
APN |
16 |
3,771,803 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02306:Nlrc3
|
APN |
16 |
3,782,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02515:Nlrc3
|
APN |
16 |
3,767,323 (GRCm39) |
splice site |
probably benign |
|
|
IGL02795:Nlrc3
|
APN |
16 |
3,783,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02897:Nlrc3
|
APN |
16 |
3,781,938 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02992:Nlrc3
|
APN |
16 |
3,771,887 (GRCm39) |
splice site |
probably benign |
|
|
IGL03003:Nlrc3
|
APN |
16 |
3,782,726 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03381:Nlrc3
|
APN |
16 |
3,782,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0064:Nlrc3
|
UTSW |
16 |
3,781,951 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0064:Nlrc3
|
UTSW |
16 |
3,781,951 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0122:Nlrc3
|
UTSW |
16 |
3,776,822 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0482:Nlrc3
|
UTSW |
16 |
3,783,056 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0601:Nlrc3
|
UTSW |
16 |
3,766,113 (GRCm39) |
splice site |
probably benign |
|
|
R0675:Nlrc3
|
UTSW |
16 |
3,766,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1595:Nlrc3
|
UTSW |
16 |
3,783,166 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1597:Nlrc3
|
UTSW |
16 |
3,781,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Nlrc3
|
UTSW |
16 |
3,782,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2077:Nlrc3
|
UTSW |
16 |
3,781,856 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2327:Nlrc3
|
UTSW |
16 |
3,771,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Nlrc3
|
UTSW |
16 |
3,775,190 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2872:Nlrc3
|
UTSW |
16 |
3,775,190 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3037:Nlrc3
|
UTSW |
16 |
3,770,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3794:Nlrc3
|
UTSW |
16 |
3,765,739 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3843:Nlrc3
|
UTSW |
16 |
3,782,828 (GRCm39) |
missense |
probably benign |
|
|
R4761:Nlrc3
|
UTSW |
16 |
3,781,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5303:Nlrc3
|
UTSW |
16 |
3,781,478 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5375:Nlrc3
|
UTSW |
16 |
3,782,617 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5468:Nlrc3
|
UTSW |
16 |
3,781,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Nlrc3
|
UTSW |
16 |
3,781,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5838:Nlrc3
|
UTSW |
16 |
3,771,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5879:Nlrc3
|
UTSW |
16 |
3,781,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Nlrc3
|
UTSW |
16 |
3,767,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6500:Nlrc3
|
UTSW |
16 |
3,770,308 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6600:Nlrc3
|
UTSW |
16 |
3,782,938 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6704:Nlrc3
|
UTSW |
16 |
3,782,945 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7172:Nlrc3
|
UTSW |
16 |
3,781,617 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7283:Nlrc3
|
UTSW |
16 |
3,765,741 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7296:Nlrc3
|
UTSW |
16 |
3,781,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7477:Nlrc3
|
UTSW |
16 |
3,782,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7817:Nlrc3
|
UTSW |
16 |
3,783,327 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8118:Nlrc3
|
UTSW |
16 |
3,783,495 (GRCm39) |
missense |
probably benign |
|
|
R8559:Nlrc3
|
UTSW |
16 |
3,783,146 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8871:Nlrc3
|
UTSW |
16 |
3,781,968 (GRCm39) |
intron |
probably benign |
|
|
R9008:Nlrc3
|
UTSW |
16 |
3,776,807 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9237:Nlrc3
|
UTSW |
16 |
3,783,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9385:Nlrc3
|
UTSW |
16 |
3,781,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9430:Nlrc3
|
UTSW |
16 |
3,783,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9509:Nlrc3
|
UTSW |
16 |
3,782,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Nlrc3
|
UTSW |
16 |
3,771,841 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCACTGCCGACAGTCTAGAAC -3'
(R):5'- CTGCAAACCTCAGGGCTTATCTCC -3'
Sequencing Primer
(F):5'- TGGCACCTGAAGGACTTATAC -3'
(R):5'- TAGGACAGGCTAAGTCTCCTGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation