Incidental Mutation 'R0675:Nlrc3'
| ID |
218617 |
| 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 |
038860-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R0675 (G1)
|
| Quality Score |
29 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3762871-3794496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3766775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1015
(I1015V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137628
(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: I1015V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: I1015V
| 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: I310V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871
AA Change: I310V
| 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
|
| Meta Mutation Damage Score |
0.0596 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (88/91) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 36,024,124 (GRCm39) |
|
probably benign |
Het |
| Aire |
T |
C |
10: 77,870,327 (GRCm39) |
|
probably benign |
Het |
| Akap12 |
T |
C |
10: 4,303,315 (GRCm39) |
S42P |
probably benign |
Het |
| Amigo1 |
T |
C |
3: 108,098,985 (GRCm39) |
|
probably benign |
Het |
| Angptl3 |
A |
G |
4: 98,921,499 (GRCm39) |
T206A |
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,600,400 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
A |
T |
7: 51,224,558 (GRCm39) |
T472S |
probably damaging |
Het |
| Arid3c |
T |
C |
4: 41,725,958 (GRCm39) |
D215G |
probably damaging |
Het |
| Cd200 |
T |
C |
16: 45,217,473 (GRCm39) |
I73V |
probably benign |
Het |
| Cd47 |
T |
C |
16: 49,727,162 (GRCm39) |
I318T |
possibly damaging |
Het |
| Cep290 |
A |
G |
10: 100,404,675 (GRCm39) |
|
probably null |
Het |
| Cep350 |
A |
G |
1: 155,835,499 (GRCm39) |
S66P |
possibly damaging |
Het |
| Cfap46 |
C |
T |
7: 139,255,950 (GRCm39) |
C300Y |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 15,978,523 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
C |
A |
4: 152,470,407 (GRCm39) |
T1913K |
probably benign |
Het |
| Cimip3 |
T |
C |
17: 47,724,701 (GRCm39) |
E140G |
probably benign |
Het |
| Clec4b1 |
A |
G |
6: 123,048,405 (GRCm39) |
Y180C |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,341,990 (GRCm39) |
D227V |
probably damaging |
Het |
| Col19a1 |
C |
G |
1: 24,614,536 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,208,145 (GRCm39) |
M1270K |
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,175,060 (GRCm39) |
F487I |
possibly damaging |
Het |
| Dpp8 |
T |
C |
9: 64,973,784 (GRCm39) |
|
probably benign |
Het |
| Duoxa1 |
A |
T |
2: 122,136,861 (GRCm39) |
|
probably benign |
Het |
| Edil3 |
A |
G |
13: 89,325,399 (GRCm39) |
K263E |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,200,035 (GRCm39) |
L1013P |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,815,246 (GRCm39) |
|
probably benign |
Het |
| Gab1 |
A |
G |
8: 81,496,297 (GRCm39) |
S668P |
probably damaging |
Het |
| Galnt14 |
T |
C |
17: 73,852,030 (GRCm39) |
T130A |
probably damaging |
Het |
| Gm10192 |
G |
A |
4: 97,071,109 (GRCm39) |
H99Y |
unknown |
Het |
| Gm5592 |
A |
G |
7: 40,938,811 (GRCm39) |
T698A |
possibly damaging |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma3 |
A |
G |
11: 98,522,017 (GRCm39) |
K149R |
probably benign |
Het |
| Igkv4-71 |
A |
G |
6: 69,220,411 (GRCm39) |
S29P |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,236,015 (GRCm39) |
V1389I |
probably benign |
Het |
| Ik |
T |
C |
18: 36,880,386 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,213,962 (GRCm39) |
P1203S |
probably damaging |
Het |
| Iqsec2 |
G |
A |
X: 150,987,120 (GRCm39) |
E398K |
possibly damaging |
Het |
| Jmjd6 |
A |
G |
11: 116,731,353 (GRCm39) |
V232A |
probably damaging |
Het |
| Klhdc9 |
G |
A |
1: 171,187,895 (GRCm39) |
T112M |
possibly damaging |
Het |
| Marcks |
A |
G |
10: 37,017,181 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,732,918 (GRCm39) |
T829S |
probably damaging |
Het |
| Mroh2a |
C |
A |
1: 88,156,102 (GRCm39) |
A78E |
probably damaging |
Het |
| Mroh2a |
G |
A |
1: 88,178,064 (GRCm39) |
D1053N |
probably damaging |
Het |
| Mtmr14 |
A |
T |
6: 113,247,608 (GRCm39) |
H518L |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,185,571 (GRCm39) |
M978T |
probably benign |
Het |
| Nlrp5 |
C |
A |
7: 23,116,842 (GRCm39) |
Q189K |
possibly damaging |
Het |
| Or1e26 |
A |
C |
11: 73,480,078 (GRCm39) |
L162R |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,700,909 (GRCm39) |
I135V |
probably benign |
Het |
| Or8k35 |
T |
C |
2: 86,424,423 (GRCm39) |
I250V |
probably benign |
Het |
| Otof |
T |
A |
5: 30,539,705 (GRCm39) |
Y1051F |
probably benign |
Het |
| Pcdhb14 |
C |
A |
18: 37,581,392 (GRCm39) |
T166K |
possibly damaging |
Het |
| Pla2g4e |
A |
G |
2: 120,030,679 (GRCm39) |
|
probably benign |
Het |
| Polr3gl |
T |
C |
3: 96,489,471 (GRCm39) |
E20G |
probably damaging |
Het |
| Psmd1 |
A |
G |
1: 86,009,761 (GRCm39) |
D295G |
probably benign |
Het |
| Ptpn21 |
C |
A |
12: 98,654,475 (GRCm39) |
A831S |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,065,914 (GRCm39) |
V56E |
probably damaging |
Het |
| Rd3l |
T |
C |
12: 111,946,596 (GRCm39) |
D60G |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,332,660 (GRCm39) |
D2624G |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,541,066 (GRCm39) |
D347G |
probably damaging |
Het |
| Sema4g |
G |
A |
19: 44,986,026 (GRCm39) |
R289H |
probably damaging |
Het |
| Sema5b |
C |
T |
16: 35,480,703 (GRCm39) |
T761I |
probably benign |
Het |
| Septin1 |
A |
T |
7: 126,816,171 (GRCm39) |
F86L |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,415,591 (GRCm39) |
V627A |
possibly damaging |
Het |
| Slc25a46 |
C |
A |
18: 31,742,641 (GRCm39) |
G75V |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,025,864 (GRCm39) |
Y405N |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,855,498 (GRCm39) |
E339G |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,067,903 (GRCm39) |
H1770Q |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,628,140 (GRCm39) |
Y944C |
probably damaging |
Het |
| Supt20 |
C |
T |
3: 54,614,390 (GRCm39) |
T169I |
probably damaging |
Het |
| Tie1 |
G |
A |
4: 118,336,966 (GRCm39) |
Q587* |
probably null |
Het |
| Tmem214 |
A |
G |
5: 31,029,169 (GRCm39) |
T203A |
possibly damaging |
Het |
| Tmprss15 |
C |
A |
16: 78,782,838 (GRCm39) |
S742I |
probably damaging |
Het |
| Wdr87-ps |
T |
C |
7: 29,231,942 (GRCm39) |
|
noncoding transcript |
Het |
| Zfhx2 |
A |
G |
14: 55,300,620 (GRCm39) |
V2377A |
probably damaging |
Het |
| Zfp763 |
G |
A |
17: 33,238,774 (GRCm39) |
H124Y |
possibly damaging |
Het |
| Zfp846 |
T |
C |
9: 20,504,853 (GRCm39) |
S238P |
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 |
|
|
R0622:Nlrc3
|
UTSW |
16 |
3,771,832 (GRCm39) |
missense |
probably benign |
0.04 |
|
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'- TGCCATAGTGACTACAGGGGAAGAC -3'
(R):5'- AGACAGCATTTGCCCCAAGTCC -3'
Sequencing Primer
(F):5'- TGACTACAGGGGAAGACAAAGTG -3'
(R):5'- AGTGCCATTTCTCTACAGAACAGG -3'
|
| Posted On |
2014-08-18 |
Incidental Mutation