Incidental Mutation 'R6799:Nlrp14'
| ID |
533204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp14
|
| Ensembl Gene |
ENSMUSG00000016626 |
| Gene Name |
NLR family, pyrin domain containing 14 |
| Synonyms |
GC-LRR, 4921520L01Rik, Nalp14, Nalp-iota |
| MMRRC Submission |
044912-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R6799 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
106766197-106797309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106795346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 210
(I210V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084763]
[ENSMUST00000142623]
|
| AlphaFold |
Q6B966 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084763
AA Change: I869V
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: I869V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NACHT
|
81 |
249 |
1.6e-38 |
PFAM |
|
Blast:LRR
|
574 |
601 |
4e-6 |
BLAST |
|
LRR
|
629 |
656 |
1.67e0 |
SMART |
|
LRR
|
658 |
685 |
1.56e0 |
SMART |
|
LRR
|
686 |
713 |
2.05e-2 |
SMART |
|
LRR
|
715 |
742 |
7.9e-4 |
SMART |
|
LRR
|
743 |
770 |
1.25e-1 |
SMART |
|
LRR
|
772 |
799 |
4.68e-1 |
SMART |
|
LRR
|
800 |
827 |
9.08e-4 |
SMART |
|
LRR
|
829 |
856 |
1.59e1 |
SMART |
|
LRR
|
857 |
884 |
7.15e-1 |
SMART |
|
LRR
|
886 |
913 |
6.57e0 |
SMART |
|
LRR
|
914 |
941 |
3.36e1 |
SMART |
|
low complexity region
|
953 |
963 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142623
AA Change: I210V
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145427
Gene: ENSMUSG00000016626
AA Change: I210V
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
27 |
54 |
9.1e-5 |
SMART |
|
LRR
|
56 |
83 |
3.4e-6 |
SMART |
|
LRR
|
84 |
111 |
5.4e-4 |
SMART |
|
LRR
|
113 |
140 |
2e-3 |
SMART |
|
LRR
|
141 |
168 |
4e-6 |
SMART |
|
LRR
|
170 |
197 |
6.7e-2 |
SMART |
|
LRR
|
198 |
225 |
3.1e-3 |
SMART |
|
LRR
|
227 |
254 |
2.8e-2 |
SMART |
|
LRR
|
255 |
282 |
1.4e-1 |
SMART |
|
low complexity region
|
294 |
304 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
T |
5: 144,981,624 (GRCm39) |
Y153F |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
| Albfm1 |
A |
G |
5: 90,727,474 (GRCm39) |
H364R |
probably damaging |
Het |
| Anapc1 |
C |
G |
2: 128,501,657 (GRCm39) |
R795T |
probably null |
Het |
| Arhgap18 |
T |
A |
10: 26,725,917 (GRCm39) |
N47K |
possibly damaging |
Het |
| Arhgap26 |
A |
G |
18: 39,232,660 (GRCm39) |
N96D |
probably damaging |
Het |
| Asxl3 |
G |
T |
18: 22,598,457 (GRCm39) |
E191* |
probably null |
Het |
| Cc2d2b |
A |
G |
19: 40,779,652 (GRCm39) |
E697G |
possibly damaging |
Het |
| Chaf1a |
A |
T |
17: 56,354,059 (GRCm39) |
I110F |
unknown |
Het |
| Clca4b |
A |
T |
3: 144,621,388 (GRCm39) |
|
probably null |
Het |
| Dagla |
C |
A |
19: 10,234,214 (GRCm39) |
V366L |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,900,049 (GRCm39) |
N878S |
probably benign |
Het |
| Dapk3 |
A |
G |
10: 81,026,096 (GRCm39) |
Y129C |
probably damaging |
Het |
| Dhx38 |
A |
G |
8: 110,279,834 (GRCm39) |
L952P |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Dscaml1 |
G |
A |
9: 45,361,881 (GRCm39) |
V214I |
probably benign |
Het |
| Dtymk |
A |
G |
1: 93,726,214 (GRCm39) |
L15P |
probably benign |
Het |
| E330034G19Rik |
A |
G |
14: 24,346,178 (GRCm39) |
M30V |
probably benign |
Het |
| Egfr |
G |
A |
11: 16,846,952 (GRCm39) |
C783Y |
probably damaging |
Het |
| Epha8 |
C |
T |
4: 136,672,980 (GRCm39) |
R268Q |
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,453,998 (GRCm39) |
R49S |
probably damaging |
Het |
| Fcsk |
T |
C |
8: 111,620,050 (GRCm39) |
M276V |
probably benign |
Het |
| Gm8797 |
A |
T |
3: 5,816,027 (GRCm39) |
T22S |
probably benign |
Het |
| Hao1 |
T |
C |
2: 134,372,685 (GRCm39) |
S108G |
probably damaging |
Het |
| Hdac4 |
C |
A |
1: 91,929,935 (GRCm39) |
A184S |
probably damaging |
Het |
| Hikeshi |
T |
A |
7: 89,579,553 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,004,757 (GRCm39) |
R452C |
probably benign |
Het |
| Hsdl1 |
T |
C |
8: 120,293,169 (GRCm39) |
S68G |
probably benign |
Het |
| Kctd20 |
T |
C |
17: 29,182,351 (GRCm39) |
|
probably null |
Het |
| Klf11 |
T |
C |
12: 24,705,638 (GRCm39) |
V364A |
possibly damaging |
Het |
| Kpna6 |
A |
G |
4: 129,551,247 (GRCm39) |
L86P |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lpin1 |
T |
A |
12: 16,611,045 (GRCm39) |
N516Y |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,314,248 (GRCm39) |
Y2161C |
probably damaging |
Het |
| Lrrtm3 |
A |
T |
10: 63,923,630 (GRCm39) |
C512* |
probably null |
Het |
| Mfsd1 |
T |
C |
3: 67,507,314 (GRCm39) |
I405T |
probably damaging |
Het |
| Msc |
T |
G |
1: 14,825,491 (GRCm39) |
D161A |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,800,841 (GRCm39) |
I755V |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,419,911 (GRCm39) |
T803A |
probably damaging |
Het |
| Npat |
A |
T |
9: 53,462,930 (GRCm39) |
H108L |
probably benign |
Het |
| Nt5dc1 |
A |
G |
10: 34,189,703 (GRCm39) |
I329T |
possibly damaging |
Het |
| Or10v5 |
T |
A |
19: 11,806,178 (GRCm39) |
I71F |
possibly damaging |
Het |
| Or51q1c |
T |
A |
7: 103,648,006 (GRCm39) |
|
probably null |
Het |
| Or8b35 |
T |
C |
9: 37,904,478 (GRCm39) |
L230P |
possibly damaging |
Het |
| Parm1 |
C |
T |
5: 91,742,070 (GRCm39) |
T146I |
possibly damaging |
Het |
| Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
| Pias1 |
G |
T |
9: 62,789,334 (GRCm39) |
S624R |
probably benign |
Het |
| Ppif |
A |
G |
14: 25,696,488 (GRCm39) |
H95R |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Psg20 |
A |
G |
7: 18,418,345 (GRCm39) |
Y141H |
probably benign |
Het |
| Pygm |
A |
T |
19: 6,448,157 (GRCm39) |
Y733F |
probably damaging |
Het |
| Rcc1l |
A |
T |
5: 134,205,552 (GRCm39) |
M1K |
probably null |
Het |
| Rfpl4b |
T |
C |
10: 38,697,341 (GRCm39) |
K87E |
possibly damaging |
Het |
| Rnf113a1 |
A |
C |
X: 36,455,840 (GRCm39) |
T266P |
probably benign |
Het |
| Scn5a |
A |
C |
9: 119,324,688 (GRCm39) |
I1380S |
possibly damaging |
Het |
| Sel1l |
A |
G |
12: 91,781,742 (GRCm39) |
|
probably null |
Het |
| Slc18a1 |
T |
A |
8: 69,493,633 (GRCm39) |
I400L |
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,246,958 (GRCm39) |
S73P |
probably damaging |
Het |
| Slc9a5 |
A |
T |
8: 106,090,600 (GRCm39) |
N685I |
possibly damaging |
Het |
| Tnc |
C |
T |
4: 63,883,841 (GRCm39) |
R1868H |
probably benign |
Het |
| Trdmt1 |
A |
G |
2: 13,520,824 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
G |
T |
7: 4,136,221 (GRCm39) |
|
probably null |
Het |
| Tyms |
A |
T |
5: 30,266,069 (GRCm39) |
D283E |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,798 (GRCm39) |
Y259F |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r88 |
C |
A |
14: 51,651,426 (GRCm39) |
Q255K |
probably benign |
Het |
| Vmn2r95 |
C |
T |
17: 18,659,555 (GRCm39) |
P100S |
probably damaging |
Het |
| Zfp128 |
A |
T |
7: 12,624,826 (GRCm39) |
H398L |
possibly damaging |
Het |
|
| Other mutations in Nlrp14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Nlrp14
|
APN |
7 |
106,791,709 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL00337:Nlrp14
|
APN |
7 |
106,781,308 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00587:Nlrp14
|
APN |
7 |
106,780,974 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00654:Nlrp14
|
APN |
7 |
106,795,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00712:Nlrp14
|
APN |
7 |
106,796,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00765:Nlrp14
|
APN |
7 |
106,789,346 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01392:Nlrp14
|
APN |
7 |
106,797,120 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02325:Nlrp14
|
APN |
7 |
106,781,523 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02572:Nlrp14
|
APN |
7 |
106,781,929 (GRCm39) |
nonsense |
probably null |
|
|
IGL03180:Nlrp14
|
APN |
7 |
106,781,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03186:Nlrp14
|
APN |
7 |
106,785,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4403001:Nlrp14
|
UTSW |
7 |
106,784,099 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0025:Nlrp14
|
UTSW |
7 |
106,780,465 (GRCm39) |
splice site |
probably benign |
|
|
R0025:Nlrp14
|
UTSW |
7 |
106,780,465 (GRCm39) |
splice site |
probably benign |
|
|
R0148:Nlrp14
|
UTSW |
7 |
106,781,928 (GRCm39) |
missense |
probably benign |
|
|
R0720:Nlrp14
|
UTSW |
7 |
106,781,220 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0842:Nlrp14
|
UTSW |
7 |
106,782,342 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1367:Nlrp14
|
UTSW |
7 |
106,782,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1472:Nlrp14
|
UTSW |
7 |
106,781,910 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1483:Nlrp14
|
UTSW |
7 |
106,789,329 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1615:Nlrp14
|
UTSW |
7 |
106,795,370 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1991:Nlrp14
|
UTSW |
7 |
106,795,407 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2171:Nlrp14
|
UTSW |
7 |
106,781,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2287:Nlrp14
|
UTSW |
7 |
106,781,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2394:Nlrp14
|
UTSW |
7 |
106,797,031 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3151:Nlrp14
|
UTSW |
7 |
106,781,759 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3732:Nlrp14
|
UTSW |
7 |
106,781,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3793:Nlrp14
|
UTSW |
7 |
106,781,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4368:Nlrp14
|
UTSW |
7 |
106,797,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4652:Nlrp14
|
UTSW |
7 |
106,781,024 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4772:Nlrp14
|
UTSW |
7 |
106,780,393 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4886:Nlrp14
|
UTSW |
7 |
106,781,862 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4896:Nlrp14
|
UTSW |
7 |
106,796,386 (GRCm39) |
frame shift |
probably null |
|
|
R4910:Nlrp14
|
UTSW |
7 |
106,785,790 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5925:Nlrp14
|
UTSW |
7 |
106,785,860 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5997:Nlrp14
|
UTSW |
7 |
106,781,703 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6192:Nlrp14
|
UTSW |
7 |
106,781,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6230:Nlrp14
|
UTSW |
7 |
106,781,024 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7116:Nlrp14
|
UTSW |
7 |
106,782,255 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7131:Nlrp14
|
UTSW |
7 |
106,784,021 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7387:Nlrp14
|
UTSW |
7 |
106,782,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7472:Nlrp14
|
UTSW |
7 |
106,789,251 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7565:Nlrp14
|
UTSW |
7 |
106,781,094 (GRCm39) |
nonsense |
probably null |
|
|
R7810:Nlrp14
|
UTSW |
7 |
106,791,782 (GRCm39) |
nonsense |
probably null |
|
|
R8113:Nlrp14
|
UTSW |
7 |
106,791,715 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8551:Nlrp14
|
UTSW |
7 |
106,782,359 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8985:Nlrp14
|
UTSW |
7 |
106,796,436 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9278:Nlrp14
|
UTSW |
7 |
106,797,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9436:Nlrp14
|
UTSW |
7 |
106,781,106 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9625:Nlrp14
|
UTSW |
7 |
106,782,169 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9715:Nlrp14
|
UTSW |
7 |
106,781,626 (GRCm39) |
missense |
probably benign |
|
|
R9744:Nlrp14
|
UTSW |
7 |
106,796,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0019:Nlrp14
|
UTSW |
7 |
106,782,134 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0050:Nlrp14
|
UTSW |
7 |
106,795,370 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1088:Nlrp14
|
UTSW |
7 |
106,785,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Nlrp14
|
UTSW |
7 |
106,781,921 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCAGTTATGTCCTGGGTTGTAC -3'
(R):5'- GCAAAAGGCATATAATATACAGGCC -3'
Sequencing Primer
(F):5'- AAAGGTTTAACTGCCTGGGC -3'
(R):5'- GGCCCATATATTTGAAATTCTGATCC -3'
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| Posted On |
2018-09-12 |
Incidental Mutation