Incidental Mutation 'R5925:Nlrp14'
| ID |
461788 |
| 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 |
044120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R5925 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
106766197-106797309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106785860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 645
(N645K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084763]
[ENSMUST00000142623]
|
| AlphaFold |
Q6B966 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084763
AA Change: N645K
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: N645K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000145427
Gene: ENSMUSG00000016626
| 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: 99.8%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
C |
T |
5: 66,147,735 (GRCm39) |
W16* |
probably null |
Het |
| Abca8a |
T |
C |
11: 109,948,049 (GRCm39) |
D985G |
probably damaging |
Het |
| Afp |
T |
A |
5: 90,645,147 (GRCm39) |
C188S |
probably damaging |
Het |
| Ank2 |
A |
C |
3: 126,726,612 (GRCm39) |
L894R |
probably benign |
Het |
| Antxr1 |
A |
G |
6: 87,289,344 (GRCm39) |
I60T |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,175,064 (GRCm39) |
V1733A |
probably benign |
Het |
| Ccdc187 |
A |
G |
2: 26,183,593 (GRCm39) |
S136P |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,703,227 (GRCm39) |
S393P |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,098,263 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,024,988 (GRCm39) |
V491A |
unknown |
Het |
| Dync2i1 |
A |
T |
12: 116,197,014 (GRCm39) |
F448I |
possibly damaging |
Het |
| Ehf |
T |
C |
2: 103,097,338 (GRCm39) |
|
probably null |
Het |
| Eif2b5 |
C |
T |
16: 20,326,874 (GRCm39) |
H99Y |
probably benign |
Het |
| Exosc10 |
C |
A |
4: 148,657,819 (GRCm39) |
T655K |
probably benign |
Het |
| Flg |
A |
T |
3: 93,186,706 (GRCm39) |
I53F |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,920,462 (GRCm39) |
D628V |
possibly damaging |
Het |
| Lmo4 |
A |
T |
3: 143,900,252 (GRCm39) |
N83K |
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,342,029 (GRCm39) |
T1881S |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,564,439 (GRCm39) |
L66Q |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,040,376 (GRCm39) |
S314P |
probably benign |
Het |
| Mpzl3 |
G |
T |
9: 44,973,412 (GRCm39) |
K50N |
probably damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,948 (GRCm39) |
Q1992K |
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,106,482 (GRCm39) |
I49T |
probably benign |
Het |
| Or6c76b |
A |
G |
10: 129,692,744 (GRCm39) |
D119G |
probably damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,063,724 (GRCm39) |
D129E |
probably damaging |
Het |
| Prb1a |
A |
G |
6: 132,187,475 (GRCm39) |
L2P |
unknown |
Het |
| Rhbdf1 |
A |
G |
11: 32,162,906 (GRCm39) |
Y454H |
probably benign |
Het |
| Satb2 |
C |
T |
1: 56,836,097 (GRCm39) |
A565T |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,051 (GRCm39) |
L889Q |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,713 (GRCm39) |
|
probably null |
Het |
| Slc35e2 |
T |
C |
4: 155,696,084 (GRCm39) |
V157A |
probably damaging |
Het |
| Slc35f3 |
T |
C |
8: 127,115,946 (GRCm39) |
V291A |
probably benign |
Het |
| Snph |
T |
C |
2: 151,436,151 (GRCm39) |
D190G |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,208,943 (GRCm39) |
H170R |
probably benign |
Het |
| Trav18 |
A |
G |
14: 54,069,152 (GRCm39) |
T65A |
probably benign |
Het |
| Trip12 |
G |
A |
1: 84,726,974 (GRCm39) |
Q9* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,632,592 (GRCm39) |
C12408Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,639,355 (GRCm39) |
D13806G |
probably damaging |
Het |
| Unc79 |
G |
C |
12: 103,091,989 (GRCm39) |
|
probably null |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,637 (GRCm39) |
S4P |
probably damaging |
Het |
| Zfp37 |
G |
A |
4: 62,109,450 (GRCm39) |
T576I |
possibly damaging |
Het |
| Zfp39 |
A |
T |
11: 58,782,099 (GRCm39) |
L221Q |
possibly damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,366,853 (GRCm39) |
H744R |
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 |
|
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 |
|
R6799:Nlrp14
|
UTSW |
7 |
106,795,346 (GRCm39) |
missense |
probably benign |
0.37 |
|
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'- ACCCTGGAGTATGAGAAACCC -3'
(R):5'- ATGAGAGGAGTGAGTAGTCTTCC -3'
Sequencing Primer
(F):5'- CCTGGAGTATGAGAAACCCAAGAGTC -3'
(R):5'- CCTGGGGTTGGGGATGAACTAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation