Incidental Mutation 'R5253:Nlrp4a'
| ID |
399206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4a
|
| Ensembl Gene |
ENSMUSG00000040601 |
| Gene Name |
NLR family, pyrin domain containing 4A |
| Synonyms |
Nalp-eta, E330028A19Rik, Nalp4a |
| MMRRC Submission |
042824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5253 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26134538-26175100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26149917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 508
(S508L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
| AlphaFold |
Q8BU40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068767
AA Change: S508L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: S508L
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
6.48e-34 |
SMART |
|
Pfam:NACHT
|
148 |
317 |
4.9e-37 |
PFAM |
|
Blast:LRR
|
634 |
661 |
4e-6 |
BLAST |
|
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
|
LRR
|
689 |
716 |
5.96e0 |
SMART |
|
LRR
|
718 |
745 |
1.99e1 |
SMART |
|
LRR
|
746 |
772 |
1.02e0 |
SMART |
|
LRR
|
774 |
801 |
4.66e1 |
SMART |
|
LRR
|
802 |
829 |
1.18e-2 |
SMART |
|
LRR
|
831 |
858 |
2.2e-2 |
SMART |
|
LRR
|
859 |
886 |
5.59e-4 |
SMART |
|
LRR
|
888 |
915 |
9.41e0 |
SMART |
|
LRR
|
916 |
943 |
8.94e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119386
AA Change: S508L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: S508L
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
6.48e-34 |
SMART |
|
Pfam:NACHT
|
148 |
317 |
1.3e-37 |
PFAM |
|
Blast:LRR
|
634 |
661 |
4e-6 |
BLAST |
|
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
|
LRR
|
689 |
716 |
5.96e0 |
SMART |
|
LRR
|
718 |
745 |
1.99e1 |
SMART |
|
LRR
|
746 |
772 |
1.02e0 |
SMART |
|
LRR
|
774 |
801 |
4.66e1 |
SMART |
|
LRR
|
802 |
829 |
1.18e-2 |
SMART |
|
LRR
|
831 |
858 |
2.2e-2 |
SMART |
|
LRR
|
859 |
886 |
5.59e-4 |
SMART |
|
LRR
|
888 |
915 |
9.41e0 |
SMART |
|
LRR
|
916 |
943 |
8.94e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146534
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146907
AA Change: S508L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
T |
C |
9: 39,962,746 (GRCm39) |
|
noncoding transcript |
Het |
| Actrt2 |
A |
C |
4: 154,752,026 (GRCm39) |
S37A |
possibly damaging |
Het |
| Adcy7 |
T |
C |
8: 89,040,742 (GRCm39) |
I327T |
probably damaging |
Het |
| Ankrd13b |
A |
G |
11: 77,364,061 (GRCm39) |
|
probably benign |
Het |
| Arap1 |
A |
C |
7: 101,037,851 (GRCm39) |
I237L |
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,902,971 (GRCm39) |
Y359N |
probably benign |
Het |
| Atad1 |
A |
G |
19: 32,651,702 (GRCm39) |
M343T |
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,609,964 (GRCm39) |
I392N |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,574,930 (GRCm39) |
S1914P |
probably benign |
Het |
| Cd300a |
G |
T |
11: 114,785,577 (GRCm39) |
R174L |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,135,831 (GRCm39) |
P356L |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,405,436 (GRCm39) |
L283P |
probably damaging |
Het |
| Dusp1 |
T |
C |
17: 26,727,191 (GRCm39) |
N36S |
probably benign |
Het |
| Dync2i2 |
T |
A |
2: 29,922,375 (GRCm39) |
|
probably benign |
Het |
| Ercc3 |
C |
A |
18: 32,402,917 (GRCm39) |
P776Q |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,902,248 (GRCm39) |
R260G |
possibly damaging |
Het |
| Fa2h |
C |
G |
8: 112,075,869 (GRCm39) |
M251I |
probably benign |
Het |
| Fcsk |
T |
C |
8: 111,610,499 (GRCm39) |
E968G |
possibly damaging |
Het |
| Flg2 |
A |
G |
3: 93,108,119 (GRCm39) |
D49G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,888,884 (GRCm39) |
E2810G |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,366,805 (GRCm39) |
F343S |
possibly damaging |
Het |
| Gdf2 |
A |
G |
14: 33,667,264 (GRCm39) |
T329A |
probably benign |
Het |
| Hcn4 |
T |
A |
9: 58,731,558 (GRCm39) |
I255N |
unknown |
Het |
| Hk3 |
T |
G |
13: 55,158,824 (GRCm39) |
D485A |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,562,319 (GRCm39) |
T249A |
probably benign |
Het |
| Kcp |
C |
T |
6: 29,498,519 (GRCm39) |
|
probably benign |
Het |
| Kifc2 |
G |
T |
15: 76,550,481 (GRCm39) |
R515L |
possibly damaging |
Het |
| Kiss1r |
A |
G |
10: 79,756,584 (GRCm39) |
Y142C |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klrb1a |
T |
A |
6: 128,596,126 (GRCm39) |
I72L |
probably benign |
Het |
| Lep |
T |
A |
6: 29,070,862 (GRCm39) |
F62Y |
probably damaging |
Het |
| Lrtm1 |
A |
G |
14: 28,743,801 (GRCm39) |
T90A |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,865,872 (GRCm39) |
D1472V |
probably benign |
Het |
| Ncor2 |
G |
T |
5: 125,103,994 (GRCm39) |
P1988Q |
probably benign |
Het |
| Obp2b |
T |
A |
2: 25,627,155 (GRCm39) |
D29E |
probably benign |
Het |
| Or10ag2 |
G |
A |
2: 87,249,012 (GRCm39) |
V207M |
possibly damaging |
Het |
| Or4c109 |
A |
G |
2: 88,818,444 (GRCm39) |
L34P |
possibly damaging |
Het |
| Or4c119 |
A |
T |
2: 88,986,801 (GRCm39) |
C239* |
probably null |
Het |
| Or4k15b |
T |
C |
14: 50,272,745 (GRCm39) |
I38M |
possibly damaging |
Het |
| Or6c3b |
A |
G |
10: 129,527,601 (GRCm39) |
I103T |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,527,483 (GRCm39) |
S1985P |
probably damaging |
Het |
| Oxct2a |
A |
T |
4: 123,216,886 (GRCm39) |
V165E |
probably damaging |
Het |
| Pcdhgb7 |
T |
C |
18: 37,886,150 (GRCm39) |
V440A |
possibly damaging |
Het |
| Pelp1 |
C |
A |
11: 70,292,487 (GRCm39) |
G211C |
probably damaging |
Het |
| Phox2a |
A |
G |
7: 101,471,312 (GRCm39) |
H268R |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,841,983 (GRCm39) |
|
probably null |
Het |
| Pramel1 |
T |
A |
4: 143,125,156 (GRCm39) |
M360K |
probably benign |
Het |
| Rbm6 |
C |
T |
9: 107,729,856 (GRCm39) |
R132K |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc45a1 |
T |
C |
4: 150,722,727 (GRCm39) |
T386A |
probably damaging |
Het |
| Smad2 |
A |
G |
18: 76,421,124 (GRCm39) |
Y151C |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,800,110 (GRCm39) |
G2188D |
probably benign |
Het |
| Sugt1 |
G |
A |
14: 79,840,341 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
T |
C |
19: 40,595,685 (GRCm39) |
S367G |
probably benign |
Het |
| Tead1 |
G |
T |
7: 112,460,752 (GRCm39) |
D219Y |
probably damaging |
Het |
| Tenm2 |
G |
T |
11: 35,938,028 (GRCm39) |
Y1548* |
probably null |
Het |
| Tenm3 |
T |
A |
8: 48,682,233 (GRCm39) |
I2466F |
possibly damaging |
Het |
| Tent4b |
C |
A |
8: 88,926,651 (GRCm39) |
H20Q |
possibly damaging |
Het |
| Tgm2 |
G |
A |
2: 157,971,358 (GRCm39) |
P294S |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,019,888 (GRCm39) |
S585P |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,566,806 (GRCm39) |
K491E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,621,895 (GRCm39) |
T15549I |
probably damaging |
Het |
| Vmn1r157 |
T |
C |
7: 22,461,183 (GRCm39) |
L21P |
probably damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,083,820 (GRCm39) |
M65V |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,345,433 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nlrp4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Nlrp4a
|
APN |
7 |
26,149,410 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL00972:Nlrp4a
|
APN |
7 |
26,156,473 (GRCm39) |
missense |
probably benign |
|
|
IGL01081:Nlrp4a
|
APN |
7 |
26,149,254 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01788:Nlrp4a
|
APN |
7 |
26,153,492 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02001:Nlrp4a
|
APN |
7 |
26,149,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02070:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02175:Nlrp4a
|
APN |
7 |
26,174,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02193:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02193:Nlrp4a
|
APN |
7 |
26,159,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02197:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02200:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02202:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02207:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02237:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02240:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02658:Nlrp4a
|
APN |
7 |
26,149,138 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02743:Nlrp4a
|
APN |
7 |
26,159,240 (GRCm39) |
splice site |
probably benign |
|
|
IGL02960:Nlrp4a
|
APN |
7 |
26,149,155 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03064:Nlrp4a
|
APN |
7 |
26,148,934 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03276:Nlrp4a
|
APN |
7 |
26,163,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Nlrp4a
|
UTSW |
7 |
26,150,011 (GRCm39) |
missense |
probably benign |
0.10 |
|
BB012:Nlrp4a
|
UTSW |
7 |
26,150,011 (GRCm39) |
missense |
probably benign |
0.10 |
|
D3080:Nlrp4a
|
UTSW |
7 |
26,143,766 (GRCm39) |
missense |
probably benign |
0.22 |
|
P0019:Nlrp4a
|
UTSW |
7 |
26,149,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Nlrp4a
|
UTSW |
7 |
26,149,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Nlrp4a
|
UTSW |
7 |
26,161,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Nlrp4a
|
UTSW |
7 |
26,161,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0372:Nlrp4a
|
UTSW |
7 |
26,148,657 (GRCm39) |
splice site |
probably benign |
|
|
R0466:Nlrp4a
|
UTSW |
7 |
26,162,045 (GRCm39) |
splice site |
probably benign |
|
|
R0544:Nlrp4a
|
UTSW |
7 |
26,156,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1006:Nlrp4a
|
UTSW |
7 |
26,152,892 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1072:Nlrp4a
|
UTSW |
7 |
26,143,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1432:Nlrp4a
|
UTSW |
7 |
26,163,622 (GRCm39) |
frame shift |
probably null |
|
|
R1655:Nlrp4a
|
UTSW |
7 |
26,149,076 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1696:Nlrp4a
|
UTSW |
7 |
26,149,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Nlrp4a
|
UTSW |
7 |
26,149,611 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2091:Nlrp4a
|
UTSW |
7 |
26,149,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Nlrp4a
|
UTSW |
7 |
26,152,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2174:Nlrp4a
|
UTSW |
7 |
26,148,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2319:Nlrp4a
|
UTSW |
7 |
26,149,319 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2358:Nlrp4a
|
UTSW |
7 |
26,163,623 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2680:Nlrp4a
|
UTSW |
7 |
26,148,655 (GRCm39) |
splice site |
probably null |
|
|
R3812:Nlrp4a
|
UTSW |
7 |
26,149,118 (GRCm39) |
missense |
probably benign |
|
|
R4114:Nlrp4a
|
UTSW |
7 |
26,149,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Nlrp4a
|
UTSW |
7 |
26,148,943 (GRCm39) |
nonsense |
probably null |
|
|
R4676:Nlrp4a
|
UTSW |
7 |
26,149,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Nlrp4a
|
UTSW |
7 |
26,163,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4728:Nlrp4a
|
UTSW |
7 |
26,174,515 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4815:Nlrp4a
|
UTSW |
7 |
26,150,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4831:Nlrp4a
|
UTSW |
7 |
26,149,844 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5007:Nlrp4a
|
UTSW |
7 |
26,161,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5262:Nlrp4a
|
UTSW |
7 |
26,159,236 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5441:Nlrp4a
|
UTSW |
7 |
26,153,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Nlrp4a
|
UTSW |
7 |
26,156,455 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5641:Nlrp4a
|
UTSW |
7 |
26,149,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Nlrp4a
|
UTSW |
7 |
26,152,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6312:Nlrp4a
|
UTSW |
7 |
26,148,821 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7131:Nlrp4a
|
UTSW |
7 |
26,149,258 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7149:Nlrp4a
|
UTSW |
7 |
26,149,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7348:Nlrp4a
|
UTSW |
7 |
26,143,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Nlrp4a
|
UTSW |
7 |
26,148,963 (GRCm39) |
missense |
not run |
|
|
R7548:Nlrp4a
|
UTSW |
7 |
26,149,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7566:Nlrp4a
|
UTSW |
7 |
26,148,670 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7646:Nlrp4a
|
UTSW |
7 |
26,148,987 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7692:Nlrp4a
|
UTSW |
7 |
26,148,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7902:Nlrp4a
|
UTSW |
7 |
26,149,482 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7925:Nlrp4a
|
UTSW |
7 |
26,150,011 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7937:Nlrp4a
|
UTSW |
7 |
26,163,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7992:Nlrp4a
|
UTSW |
7 |
26,150,070 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8205:Nlrp4a
|
UTSW |
7 |
26,150,219 (GRCm39) |
missense |
probably benign |
|
|
R8477:Nlrp4a
|
UTSW |
7 |
26,159,219 (GRCm39) |
missense |
probably benign |
|
|
R8704:Nlrp4a
|
UTSW |
7 |
26,156,563 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8791:Nlrp4a
|
UTSW |
7 |
26,143,561 (GRCm39) |
splice site |
probably benign |
|
|
R9220:Nlrp4a
|
UTSW |
7 |
26,149,523 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9332:Nlrp4a
|
UTSW |
7 |
26,159,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
T0975:Nlrp4a
|
UTSW |
7 |
26,149,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Nlrp4a
|
UTSW |
7 |
26,143,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Nlrp4a
|
UTSW |
7 |
26,153,588 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCATACTACTGGACATTGG -3'
(R):5'- AAGAAGGTGTCATCGTCCATC -3'
Sequencing Primer
(F):5'- CCATACTACTGGACATTGGAATGC -3'
(R):5'- GGTGTCATCGTCCATCTCAAACAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation