Incidental Mutation 'R5942:Nlrc3'
| ID |
460369 |
| 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 |
044134-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R5942 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
3762871-3794496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3767293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 969
(D969E)
|
| 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: D969E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: D969E
| 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 damaging
Transcript: ENSMUST00000180200
AA Change: D264E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871
AA Change: D264E
| 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: D869E
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 96.7%
- 20x: 89.5%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
T |
17: 46,623,333 (GRCm39) |
V860M |
probably benign |
Het |
| Accs |
A |
T |
2: 93,666,392 (GRCm39) |
L432M |
probably damaging |
Het |
| Actrt3 |
T |
A |
3: 30,652,813 (GRCm39) |
N94Y |
possibly damaging |
Het |
| Adamts18 |
T |
C |
8: 114,504,380 (GRCm39) |
Q80R |
probably benign |
Het |
| Ccr8 |
G |
T |
9: 119,923,772 (GRCm39) |
V296F |
probably damaging |
Het |
| Cep170 |
T |
A |
1: 176,583,985 (GRCm39) |
E798V |
probably damaging |
Het |
| Cttnbp2 |
T |
A |
6: 18,448,439 (GRCm39) |
E73D |
probably damaging |
Het |
| Cyp2a4 |
A |
T |
7: 26,010,129 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,117,466 (GRCm39) |
Y41* |
probably null |
Het |
| Enc1 |
G |
A |
13: 97,382,887 (GRCm39) |
D466N |
probably benign |
Het |
| Enpp1 |
C |
A |
10: 24,551,966 (GRCm39) |
E138* |
probably null |
Het |
| Entrep1 |
A |
G |
19: 23,963,834 (GRCm39) |
V245A |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,554,516 (GRCm39) |
R27G |
possibly damaging |
Het |
| Fut10 |
A |
G |
8: 31,691,485 (GRCm39) |
N110S |
possibly damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,721,534 (GRCm39) |
|
probably null |
Het |
| Gm14393 |
G |
A |
2: 174,903,689 (GRCm39) |
Q73* |
probably null |
Het |
| Gpr156 |
C |
T |
16: 37,825,264 (GRCm39) |
P494S |
probably benign |
Het |
| Has2 |
T |
A |
15: 56,531,192 (GRCm39) |
K508* |
probably null |
Het |
| Hc |
A |
T |
2: 34,918,137 (GRCm39) |
C715* |
probably null |
Het |
| Hook2 |
C |
T |
8: 85,721,409 (GRCm39) |
|
probably null |
Het |
| Klhdc7b |
A |
C |
15: 89,271,634 (GRCm39) |
I839L |
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,516,792 (GRCm39) |
L1584P |
probably damaging |
Het |
| Lamp1 |
T |
C |
8: 13,223,941 (GRCm39) |
F358L |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
| Mga |
A |
G |
2: 119,777,440 (GRCm39) |
I1871V |
probably benign |
Het |
| Mgmt |
T |
A |
7: 136,723,219 (GRCm39) |
D96E |
probably benign |
Het |
| Morc2a |
C |
A |
11: 3,629,936 (GRCm39) |
T424K |
probably damaging |
Het |
| Myo1g |
A |
G |
11: 6,464,888 (GRCm39) |
L462P |
probably damaging |
Het |
| Ncaph |
C |
A |
2: 126,958,608 (GRCm39) |
|
probably null |
Het |
| Nt5c3 |
A |
T |
6: 56,874,839 (GRCm39) |
|
probably null |
Het |
| Or4c12b |
G |
T |
2: 89,646,684 (GRCm39) |
E5* |
probably null |
Het |
| Or5ac15 |
A |
T |
16: 58,940,039 (GRCm39) |
Y131* |
probably null |
Het |
| Or5d41 |
A |
C |
2: 88,054,916 (GRCm39) |
I153M |
probably benign |
Het |
| Or8h8 |
T |
C |
2: 86,753,750 (GRCm39) |
N42S |
probably damaging |
Het |
| Parp14 |
C |
A |
16: 35,659,737 (GRCm39) |
M1628I |
probably damaging |
Het |
| Parp8 |
G |
T |
13: 117,005,969 (GRCm39) |
P693Q |
probably benign |
Het |
| Parp9 |
A |
G |
16: 35,792,259 (GRCm39) |
D485G |
possibly damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,063,444 (GRCm39) |
V36D |
probably damaging |
Het |
| Pcdhb5 |
C |
T |
18: 37,453,838 (GRCm39) |
Q73* |
probably null |
Het |
| Pecam1 |
G |
T |
11: 106,552,809 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,660,277 (GRCm39) |
I527V |
probably benign |
Het |
| Phf11 |
G |
A |
14: 59,497,593 (GRCm39) |
P13S |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,553,706 (GRCm39) |
V388D |
possibly damaging |
Het |
| Psmc4 |
C |
T |
7: 27,746,480 (GRCm39) |
V202I |
probably damaging |
Het |
| Ptx3 |
T |
G |
3: 66,127,484 (GRCm39) |
M1R |
probably null |
Het |
| Rimbp3 |
A |
G |
16: 17,029,752 (GRCm39) |
T1059A |
probably benign |
Het |
| Rmdn3 |
G |
A |
2: 118,978,058 (GRCm39) |
A181V |
probably damaging |
Het |
| Rnase10 |
A |
T |
14: 51,246,735 (GRCm39) |
M38L |
probably benign |
Het |
| Sec16b |
T |
A |
1: 157,358,920 (GRCm39) |
Y118N |
probably damaging |
Het |
| Sigmar1 |
T |
C |
4: 41,741,159 (GRCm39) |
T32A |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,137,180 (GRCm39) |
D954G |
probably damaging |
Het |
| Tfrc |
A |
G |
16: 32,445,533 (GRCm39) |
N618S |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,785,888 (GRCm39) |
D1028G |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,385,860 (GRCm39) |
D1379E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,580,505 (GRCm39) |
C23463S |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,250,619 (GRCm39) |
T745A |
probably benign |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,417 (GRCm39) |
Y166F |
possibly damaging |
Het |
| Wbp1l |
C |
A |
19: 46,642,869 (GRCm39) |
T290K |
probably damaging |
Het |
| Wdr25 |
A |
G |
12: 108,864,392 (GRCm39) |
N179S |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,942,504 (GRCm39) |
Q1035* |
probably null |
Het |
| Yif1a |
C |
T |
19: 5,141,669 (GRCm39) |
R196C |
probably damaging |
Het |
| Zfp352 |
A |
T |
4: 90,113,307 (GRCm39) |
K482N |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
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 |
|
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 |
|
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'- ATGCTGTCTATACCTGCAATCC -3'
(R):5'- AATGCTTATGAGGCCAAGGG -3'
Sequencing Primer
(F):5'- ATACCTGCAATCCTTCCTACATG -3'
(R):5'- CAAGGGCACAATGGCTGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation