Incidental Mutation 'R0122:Nlrc3'
| ID |
21124 |
| 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 |
038407-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R0122 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
16 |
| Chromosomal Location |
3762871-3794496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3776822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 756
(K756E)
|
| 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 damaging
Transcript: ENSMUST00000177551
AA Change: K756E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: K756E
| 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 |
possibly damaging
Transcript: ENSMUST00000180200
AA Change: K51E
PolyPhen 2
Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871
AA Change: K51E
| 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: K740E
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.2412 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| Validation Efficiency |
99% (78/79) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| Adam12 |
T |
A |
7: 133,614,077 (GRCm39) |
I60F |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,747,454 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
C |
T |
15: 11,215,710 (GRCm39) |
R244C |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,061,474 (GRCm39) |
E360G |
probably damaging |
Het |
| Atn1 |
A |
T |
6: 124,720,197 (GRCm39) |
|
probably benign |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| Baz2b |
G |
T |
2: 59,743,963 (GRCm39) |
|
probably null |
Het |
| Bloc1s6 |
G |
C |
2: 122,587,963 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| C1qa |
T |
A |
4: 136,625,142 (GRCm39) |
T3S |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,319,647 (GRCm39) |
F1351Y |
probably damaging |
Het |
| Car9 |
C |
T |
4: 43,512,206 (GRCm39) |
A356V |
probably benign |
Het |
| Ccdc116 |
T |
A |
16: 16,960,598 (GRCm39) |
D73V |
probably damaging |
Het |
| Ces2g |
T |
C |
8: 105,694,932 (GRCm39) |
Y518H |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,261,431 (GRCm39) |
|
probably benign |
Het |
| Cmc1 |
A |
T |
9: 117,894,388 (GRCm39) |
C29S |
probably damaging |
Het |
| Coil |
T |
A |
11: 88,875,833 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,380,057 (GRCm39) |
|
probably benign |
Het |
| Cox15 |
A |
G |
19: 43,737,229 (GRCm39) |
I135T |
possibly damaging |
Het |
| Cyld |
T |
C |
8: 89,468,920 (GRCm39) |
S564P |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,378,509 (GRCm39) |
N2948K |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,436,301 (GRCm39) |
R4014W |
probably damaging |
Het |
| Dnmt3b |
T |
C |
2: 153,518,618 (GRCm39) |
Y594H |
probably damaging |
Het |
| Dntt |
A |
G |
19: 41,041,477 (GRCm39) |
K387R |
possibly damaging |
Het |
| Efcab7 |
G |
A |
4: 99,749,560 (GRCm39) |
|
probably benign |
Het |
| Flvcr1 |
G |
T |
1: 190,753,423 (GRCm39) |
P250T |
possibly damaging |
Het |
| Gga2 |
C |
A |
7: 121,590,797 (GRCm39) |
V504L |
probably damaging |
Het |
| Gm12239 |
T |
A |
11: 55,906,738 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6327 |
T |
C |
16: 12,578,890 (GRCm39) |
|
noncoding transcript |
Het |
| Krt26 |
G |
T |
11: 99,224,545 (GRCm39) |
Y324* |
probably null |
Het |
| Lamb2 |
A |
T |
9: 108,363,713 (GRCm39) |
H939L |
probably benign |
Het |
| Lipo3 |
C |
T |
19: 33,600,086 (GRCm39) |
|
probably benign |
Het |
| Mmp1b |
G |
A |
9: 7,386,689 (GRCm39) |
T145M |
probably damaging |
Het |
| Mrps27 |
G |
T |
13: 99,501,736 (GRCm39) |
V76L |
probably benign |
Het |
| Mup6 |
T |
A |
4: 60,003,995 (GRCm39) |
Y29* |
probably null |
Het |
| Nnt |
T |
C |
13: 119,505,133 (GRCm39) |
H527R |
probably damaging |
Het |
| Nudt8 |
T |
C |
19: 4,051,306 (GRCm39) |
V59A |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,434,032 (GRCm39) |
|
probably null |
Het |
| Or10d1 |
A |
T |
9: 39,484,020 (GRCm39) |
D178E |
probably damaging |
Het |
| Or2a25 |
T |
C |
6: 42,888,889 (GRCm39) |
V144A |
probably benign |
Het |
| Or51q1c |
T |
C |
7: 103,652,565 (GRCm39) |
W28R |
probably damaging |
Het |
| Pdgfd |
T |
C |
9: 6,293,851 (GRCm39) |
S142P |
probably damaging |
Het |
| Pias4 |
G |
T |
10: 80,992,921 (GRCm39) |
Q22K |
probably damaging |
Het |
| Pin1 |
T |
C |
9: 20,573,600 (GRCm39) |
I95T |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,424,974 (GRCm39) |
D156E |
probably benign |
Het |
| Prickle2 |
G |
A |
6: 92,388,326 (GRCm39) |
Q359* |
probably null |
Het |
| Qrich2 |
G |
T |
11: 116,337,639 (GRCm39) |
Q1950K |
possibly damaging |
Het |
| Rab10 |
C |
A |
12: 3,359,357 (GRCm39) |
G21V |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,447,033 (GRCm39) |
|
probably benign |
Het |
| Samd4 |
C |
A |
14: 47,254,017 (GRCm39) |
S160R |
probably benign |
Het |
| Scube3 |
A |
C |
17: 28,385,502 (GRCm39) |
|
probably benign |
Het |
| Serpinf2 |
A |
G |
11: 75,327,372 (GRCm39) |
L185P |
probably damaging |
Het |
| Slc16a12 |
A |
G |
19: 34,652,264 (GRCm39) |
I294T |
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,905,478 (GRCm39) |
M167K |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,450,910 (GRCm39) |
L2673Q |
possibly damaging |
Het |
| Supt3 |
A |
G |
17: 45,314,028 (GRCm39) |
D139G |
probably damaging |
Het |
| Tas1r3 |
T |
C |
4: 155,945,290 (GRCm39) |
M644V |
probably benign |
Het |
| Tgfbi |
A |
G |
13: 56,775,781 (GRCm39) |
T276A |
probably damaging |
Het |
| Tmem177 |
T |
C |
1: 119,838,308 (GRCm39) |
I124V |
probably benign |
Het |
| Tmprss11f |
G |
T |
5: 86,681,484 (GRCm39) |
|
probably benign |
Het |
| Tmprss3 |
G |
A |
17: 31,412,876 (GRCm39) |
|
probably benign |
Het |
| Twf1 |
A |
G |
15: 94,484,430 (GRCm39) |
|
probably benign |
Het |
| Uba52 |
T |
A |
8: 70,961,951 (GRCm39) |
Q166L |
probably damaging |
Het |
| Ubr3 |
G |
T |
2: 69,809,756 (GRCm39) |
G1242V |
probably damaging |
Het |
| Unc13d |
C |
T |
11: 115,956,308 (GRCm39) |
S835N |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,680,652 (GRCm39) |
K4877E |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,662 (GRCm39) |
I387V |
probably benign |
Het |
| Vps11 |
A |
T |
9: 44,265,809 (GRCm39) |
I490N |
probably damaging |
Het |
| Vstm4 |
T |
A |
14: 32,585,768 (GRCm39) |
|
probably null |
Het |
| Zfp110 |
C |
A |
7: 12,582,524 (GRCm39) |
H391N |
possibly damaging |
Het |
| Zfp212 |
C |
T |
6: 47,907,957 (GRCm39) |
P312L |
possibly damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,914 (GRCm39) |
H203Q |
probably damaging |
Het |
| Zscan12 |
G |
A |
13: 21,553,139 (GRCm39) |
G321E |
probably damaging |
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 |
|
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 |
|
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'- AGGCTTTTCACTGTCCTGAGAAACC -3'
(R):5'- GACCCTGACCTGGAACTGTCTTTG -3'
Sequencing Primer
(F):5'- CTTGGGGACTTAGAGCAGCAC -3'
(R):5'- GGAACTGTCTTTGTCATCACCAC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation