Incidental Mutation 'R9744:Nlrp14'
| ID |
731981 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R9744 (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 T
at 106796987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 951
(L951F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084763]
[ENSMUST00000142623]
|
| AlphaFold |
Q6B966 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084763
AA Change: L951F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: L951F
| 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 damaging
Transcript: ENSMUST00000142623
AA Change: L292F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145427
Gene: ENSMUSG00000016626
AA Change: L292F
| 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: 99.8%
- 10x: 99.3%
- 20x: 98.5%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
T |
A |
14: 68,742,583 (GRCm39) |
M677L |
probably benign |
Het |
| Ankrd24 |
T |
G |
10: 81,482,951 (GRCm39) |
D966E |
possibly damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,094,261 (GRCm39) |
L961P |
probably damaging |
Het |
| Atxn1 |
G |
A |
13: 45,721,299 (GRCm39) |
Q199* |
probably null |
Het |
| Bcl2a1c |
G |
A |
9: 114,159,341 (GRCm39) |
V40I |
probably benign |
Het |
| Cep41 |
A |
G |
6: 30,656,603 (GRCm39) |
V283A |
probably benign |
Het |
| Cerk |
A |
G |
15: 86,033,491 (GRCm39) |
Y311H |
probably damaging |
Het |
| Ciz1 |
A |
T |
2: 32,253,859 (GRCm39) |
Q13L |
unknown |
Het |
| Cpeb2 |
T |
C |
5: 43,391,268 (GRCm39) |
S155P |
|
Het |
| Dmbx1 |
T |
A |
4: 115,777,262 (GRCm39) |
E200D |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Erc1 |
T |
C |
6: 119,720,360 (GRCm39) |
Y747C |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,637,124 (GRCm39) |
E1114G |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,777,693 (GRCm39) |
E1171* |
probably null |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gys2 |
A |
C |
6: 142,394,187 (GRCm39) |
D450E |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,623,941 (GRCm39) |
I1120N |
probably damaging |
Het |
| Ints3 |
G |
T |
3: 90,318,605 (GRCm39) |
T210K |
probably damaging |
Het |
| Itih5 |
T |
C |
2: 10,256,221 (GRCm39) |
Y896H |
probably damaging |
Het |
| Kcna7 |
A |
G |
7: 45,056,402 (GRCm39) |
D206G |
probably benign |
Het |
| Klhl10 |
T |
A |
11: 100,336,396 (GRCm39) |
C128S |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,320,255 (GRCm39) |
V603A |
probably damaging |
Het |
| Mapk15 |
T |
A |
15: 75,869,912 (GRCm39) |
I344N |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,715,711 (GRCm39) |
F1993L |
possibly damaging |
Het |
| Myo1c |
T |
C |
11: 75,562,797 (GRCm39) |
L959P |
probably damaging |
Het |
| Nectin1 |
A |
G |
9: 43,715,240 (GRCm39) |
Q492R |
probably damaging |
Het |
| Nlrp5 |
T |
G |
7: 23,120,902 (GRCm39) |
S705R |
possibly damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,267,266 (GRCm39) |
Y787C |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,201,182 (GRCm39) |
T189A |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,209,510 (GRCm39) |
Y1606H |
probably damaging |
Het |
| Or2w4 |
A |
G |
13: 21,795,827 (GRCm39) |
F104S |
possibly damaging |
Het |
| Or4k48 |
C |
A |
2: 111,475,664 (GRCm39) |
R226L |
probably benign |
Het |
| Or6z5 |
A |
T |
7: 6,477,210 (GRCm39) |
I34L |
probably benign |
Het |
| Pitx2 |
A |
T |
3: 129,009,467 (GRCm39) |
T129S |
probably damaging |
Het |
| Pla2g2c |
T |
C |
4: 138,470,972 (GRCm39) |
S118P |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,906,372 (GRCm39) |
N396S |
probably benign |
Het |
| Prl |
A |
T |
13: 27,248,338 (GRCm39) |
Q135L |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,505,733 (GRCm39) |
L2555P |
possibly damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,495 (GRCm39) |
D335V |
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,765,294 (GRCm39) |
|
probably null |
Het |
| Ramp2 |
T |
A |
11: 101,137,913 (GRCm39) |
S52T |
unknown |
Het |
| Skint6 |
C |
T |
4: 112,666,360 (GRCm39) |
G1155D |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,215,275 (GRCm39) |
R655C |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,274,184 (GRCm39) |
C1867R |
probably benign |
Het |
| Tcf21 |
T |
C |
10: 22,695,726 (GRCm39) |
D26G |
probably benign |
Het |
| Tmem132a |
G |
A |
19: 10,840,678 (GRCm39) |
P418L |
probably damaging |
Het |
| Tob1 |
C |
T |
11: 94,105,054 (GRCm39) |
R197C |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,794,848 (GRCm39) |
V607A |
probably damaging |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,284 (GRCm39) |
S850P |
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 |
|
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 |
|
|
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'- TTGAGGTTGACACAGTGCC -3'
(R):5'- GACTTTGCCACTTGGAAGTTAGG -3'
Sequencing Primer
(F):5'- CAAGAATGTATTGGTTGCTTCCC -3'
(R):5'- CTGGCCCAATGACCAAAT -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation