Incidental Mutation 'R4772:Nlrp14'
| ID |
367606 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R4772 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
106766197-106797309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106780393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 5
(D5G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084763]
|
| AlphaFold |
Q6B966 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084763
AA Change: D5G
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: D5G
| 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 |
|
| Meta Mutation Damage Score |
0.0769 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
95% (74/78) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,265,339 (GRCm39) |
|
probably null |
Het |
| Adamts19 |
A |
G |
18: 58,970,848 (GRCm39) |
Q144R |
possibly damaging |
Het |
| Adgrb3 |
C |
A |
1: 25,570,956 (GRCm39) |
C507F |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,590,237 (GRCm39) |
*923W |
probably null |
Het |
| Atp13a4 |
T |
C |
16: 29,239,653 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
G |
T |
2: 59,788,795 (GRCm39) |
R697S |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,799,537 (GRCm39) |
I184T |
probably benign |
Het |
| Bpifb4 |
C |
T |
2: 153,784,903 (GRCm39) |
L204F |
possibly damaging |
Het |
| Cep120 |
C |
T |
18: 53,851,561 (GRCm39) |
R577Q |
probably damaging |
Het |
| Cplx4 |
T |
C |
18: 66,103,048 (GRCm39) |
E24G |
possibly damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,923 (GRCm39) |
T147A |
probably benign |
Het |
| Dnajc10 |
C |
A |
2: 80,170,870 (GRCm39) |
H454N |
probably damaging |
Het |
| Dsp |
G |
T |
13: 38,351,504 (GRCm39) |
G108* |
probably null |
Het |
| Entpd6 |
T |
A |
2: 150,609,014 (GRCm39) |
I366K |
probably damaging |
Het |
| Fam111a |
A |
G |
19: 12,565,057 (GRCm39) |
K269E |
probably benign |
Het |
| Grid2ip |
T |
G |
5: 143,361,455 (GRCm39) |
V222G |
possibly damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,335,326 (GRCm39) |
V4421G |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,555,253 (GRCm39) |
T817A |
probably damaging |
Het |
| Irak2 |
A |
T |
6: 113,670,683 (GRCm39) |
E533V |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,464,523 (GRCm39) |
S1297G |
probably damaging |
Het |
| Kbtbd6 |
T |
C |
14: 79,689,596 (GRCm39) |
F97S |
probably damaging |
Het |
| Kctd14 |
A |
T |
7: 97,106,883 (GRCm39) |
E99V |
probably damaging |
Het |
| Klhl10 |
A |
T |
11: 100,338,557 (GRCm39) |
Y432F |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,592,335 (GRCm39) |
N53S |
possibly damaging |
Het |
| Mief2 |
T |
A |
11: 60,621,288 (GRCm39) |
|
probably benign |
Het |
| Mog |
A |
T |
17: 37,334,049 (GRCm39) |
S15T |
unknown |
Het |
| Mpi |
T |
C |
9: 57,452,181 (GRCm39) |
D365G |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,379,983 (GRCm39) |
|
probably null |
Het |
| Nes |
A |
G |
3: 87,883,486 (GRCm39) |
T582A |
probably benign |
Het |
| Nr1i3 |
C |
T |
1: 171,044,719 (GRCm39) |
T218I |
probably damaging |
Het |
| Nup43 |
C |
T |
10: 7,554,433 (GRCm39) |
R339* |
probably null |
Het |
| Nup58 |
T |
A |
14: 60,457,471 (GRCm39) |
R577S |
probably benign |
Het |
| Olfr908 |
C |
T |
9: 38,427,897 (GRCm39) |
|
probably benign |
Het |
| Or4l15 |
AAATTTGAA |
AAA |
14: 50,198,452 (GRCm39) |
|
probably benign |
Het |
| Or52n4b |
T |
A |
7: 108,144,092 (GRCm39) |
M120K |
probably damaging |
Het |
| Or5d35 |
T |
A |
2: 87,855,207 (GRCm39) |
I47K |
probably damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,537 (GRCm39) |
V102D |
possibly damaging |
Het |
| Or9g20 |
G |
A |
2: 85,630,338 (GRCm39) |
S92F |
probably damaging |
Het |
| Orc1 |
T |
C |
4: 108,436,765 (GRCm39) |
|
probably benign |
Het |
| Pax6 |
C |
A |
2: 105,526,847 (GRCm39) |
P251Q |
probably benign |
Het |
| Phactr3 |
C |
T |
2: 177,925,729 (GRCm39) |
R330W |
probably damaging |
Het |
| Phldb1 |
G |
A |
9: 44,622,324 (GRCm39) |
R81W |
probably damaging |
Het |
| Pip5k1c |
C |
T |
10: 81,151,774 (GRCm39) |
P656L |
probably benign |
Het |
| Pkn3 |
T |
G |
2: 29,974,692 (GRCm39) |
|
probably null |
Het |
| Plcb2 |
T |
A |
2: 118,543,615 (GRCm39) |
H752L |
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,660,746 (GRCm39) |
T291M |
probably damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,823,127 (GRCm39) |
M32L |
probably benign |
Het |
| Plekhg1 |
A |
T |
10: 3,823,130 (GRCm39) |
T33S |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,759,625 (GRCm39) |
T174A |
probably damaging |
Het |
| Ppip5k2 |
C |
A |
1: 97,648,792 (GRCm39) |
|
probably benign |
Het |
| Prl2a1 |
G |
A |
13: 27,988,961 (GRCm39) |
V29M |
probably benign |
Het |
| R3hcc1l |
T |
C |
19: 42,571,996 (GRCm39) |
|
probably benign |
Het |
| Rasa3 |
C |
T |
8: 13,648,289 (GRCm39) |
G125D |
probably damaging |
Het |
| Sema3f |
A |
T |
9: 107,566,919 (GRCm39) |
Y136* |
probably null |
Het |
| Slc13a5 |
T |
A |
11: 72,141,672 (GRCm39) |
|
probably null |
Het |
| Slc16a1 |
T |
C |
3: 104,560,880 (GRCm39) |
V395A |
possibly damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,236,356 (GRCm39) |
A466T |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,069,690 (GRCm39) |
|
probably benign |
Het |
| Styxl1 |
G |
A |
5: 135,797,755 (GRCm39) |
R50* |
probably null |
Het |
| Tex264 |
T |
A |
9: 106,550,901 (GRCm39) |
I99F |
possibly damaging |
Het |
| Tgtp2 |
T |
C |
11: 48,949,811 (GRCm39) |
T254A |
probably damaging |
Het |
| Tmem245 |
A |
C |
4: 56,937,989 (GRCm39) |
|
probably null |
Het |
| Tnik |
A |
T |
3: 28,661,359 (GRCm39) |
T587S |
probably benign |
Het |
| Tpr |
T |
G |
1: 150,288,864 (GRCm39) |
S648A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,596,313 (GRCm39) |
E18454G |
probably damaging |
Het |
| Utp20 |
A |
C |
10: 88,645,797 (GRCm39) |
H527Q |
probably benign |
Het |
| Vmn1r1 |
A |
T |
1: 181,985,111 (GRCm39) |
S185T |
probably benign |
Het |
| Vps54 |
C |
T |
11: 21,262,952 (GRCm39) |
H680Y |
probably damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,419,553 (GRCm39) |
|
probably null |
Het |
| Wscd1 |
T |
C |
11: 71,662,802 (GRCm39) |
|
probably null |
Het |
| Zbtb41 |
C |
T |
1: 139,375,152 (GRCm39) |
P871S |
probably damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,549 (GRCm39) |
L186P |
possibly damaging |
Het |
| Zdhhc13 |
A |
G |
7: 48,449,621 (GRCm39) |
Y73C |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,225,755 (GRCm39) |
E21G |
probably 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 |
|
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 |
|
|
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'- CTCTTGGCTCTAAACCCACA -3'
(R):5'- TCCAGTTCTATTGACTTTGAATGACTG -3'
Sequencing Primer
(F):5'- CATTCGTGAATCCAGAACACTTGGG -3'
(R):5'- CCTTAGAAACTAACCCTGC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation