Incidental Mutation 'R5696:Nlrp9b'
ID |
450667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp9b
|
Ensembl Gene |
ENSMUSG00000060508 |
Gene Name |
NLR family, pyrin domain containing 9B |
Synonyms |
Nalp9b, Nalp-delta |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5696 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
19725318-19796867 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 19758417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 551
(R551S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073151]
[ENSMUST00000117909]
[ENSMUST00000137183]
|
AlphaFold |
Q66X22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073151
AA Change: R551S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000072895 Gene: ENSMUSG00000060508 AA Change: R551S
Domain | Start | End | E-Value | Type |
PYRIN
|
5 |
87 |
2.08e-23 |
SMART |
Pfam:NACHT
|
143 |
311 |
4.3e-34 |
PFAM |
low complexity region
|
580 |
595 |
N/A |
INTRINSIC |
LRR
|
630 |
657 |
2.16e2 |
SMART |
LRR
|
691 |
718 |
2.23e2 |
SMART |
LRR
|
747 |
774 |
6.67e-2 |
SMART |
LRR
|
776 |
803 |
3.65e0 |
SMART |
LRR
|
804 |
831 |
5.59e-4 |
SMART |
LRR
|
833 |
860 |
2.81e0 |
SMART |
LRR
|
861 |
888 |
8.87e-7 |
SMART |
LRR
|
890 |
917 |
9.24e1 |
SMART |
Blast:LRR
|
918 |
945 |
2e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117909
|
SMART Domains |
Protein: ENSMUSP00000113762 Gene: ENSMUSG00000060508
Domain | Start | End | E-Value | Type |
PYRIN
|
5 |
87 |
2.08e-23 |
SMART |
Pfam:NACHT
|
143 |
179 |
2.8e-6 |
PFAM |
LRR
|
190 |
217 |
2.16e2 |
SMART |
LRR
|
251 |
278 |
2.23e2 |
SMART |
LRR
|
307 |
334 |
6.67e-2 |
SMART |
LRR
|
336 |
363 |
3.65e0 |
SMART |
LRR
|
364 |
391 |
5.59e-4 |
SMART |
LRR
|
393 |
420 |
2.81e0 |
SMART |
Pfam:Chromo_shadow
|
450 |
501 |
2.9e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137183
|
SMART Domains |
Protein: ENSMUSP00000115158 Gene: ENSMUSG00000060508
Domain | Start | End | E-Value | Type |
PYRIN
|
5 |
87 |
2.08e-23 |
SMART |
Pfam:NACHT
|
143 |
240 |
1.7e-24 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
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] PHENOTYPE: The protein protects against rotavirus infection. Homozygous KO leads to increased susceptibility to infection and greater severity of pathology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam8 |
G |
A |
7: 139,569,159 (GRCm39) |
R186W |
probably benign |
Het |
Afg3l2 |
A |
G |
18: 67,540,529 (GRCm39) |
I660T |
probably damaging |
Het |
Amtn |
T |
A |
5: 88,532,944 (GRCm39) |
Y186* |
probably null |
Het |
Atosa |
A |
G |
9: 74,917,399 (GRCm39) |
E666G |
probably benign |
Het |
Atrip |
A |
G |
9: 108,894,569 (GRCm39) |
S453P |
possibly damaging |
Het |
Bahcc1 |
T |
C |
11: 120,164,813 (GRCm39) |
L840P |
probably damaging |
Het |
Capn2 |
T |
C |
1: 182,306,165 (GRCm39) |
E527G |
possibly damaging |
Het |
Caprin2 |
A |
T |
6: 148,779,316 (GRCm39) |
Y164N |
possibly damaging |
Het |
Ccnh |
T |
A |
13: 85,344,446 (GRCm39) |
|
probably null |
Het |
Cdon |
G |
T |
9: 35,403,162 (GRCm39) |
V1091F |
possibly damaging |
Het |
Ceacam14 |
A |
G |
7: 17,548,267 (GRCm39) |
Y119C |
probably damaging |
Het |
Ces2h |
A |
G |
8: 105,745,611 (GRCm39) |
K445E |
possibly damaging |
Het |
Cfap46 |
A |
G |
7: 139,191,947 (GRCm39) |
S2357P |
probably damaging |
Het |
Commd4 |
A |
T |
9: 57,063,499 (GRCm39) |
S86R |
possibly damaging |
Het |
Cpsf6 |
A |
T |
10: 117,196,934 (GRCm39) |
|
probably benign |
Het |
Dag1 |
A |
T |
9: 108,086,646 (GRCm39) |
V165E |
probably benign |
Het |
Dmxl1 |
A |
T |
18: 50,065,008 (GRCm39) |
K2618* |
probably null |
Het |
Dnah17 |
A |
G |
11: 117,991,882 (GRCm39) |
Y1229H |
probably benign |
Het |
Endov |
T |
A |
11: 119,382,625 (GRCm39) |
L24Q |
probably damaging |
Het |
Fap |
C |
T |
2: 62,332,803 (GRCm39) |
V717M |
probably damaging |
Het |
Fbxl2 |
A |
G |
9: 113,815,546 (GRCm39) |
L239P |
probably damaging |
Het |
Fbxl5 |
A |
T |
5: 43,916,182 (GRCm39) |
V367D |
possibly damaging |
Het |
Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
Gbp8 |
C |
T |
5: 105,166,682 (GRCm39) |
V216I |
possibly damaging |
Het |
Gclm |
G |
A |
3: 122,059,936 (GRCm39) |
A239T |
probably benign |
Het |
Gm11569 |
C |
T |
11: 99,689,556 (GRCm39) |
|
probably benign |
Het |
Gnas |
C |
A |
2: 174,141,468 (GRCm39) |
|
probably benign |
Het |
Grb10 |
T |
A |
11: 11,883,566 (GRCm39) |
N508I |
probably benign |
Het |
Gykl1 |
T |
G |
18: 52,827,267 (GRCm39) |
I158M |
probably benign |
Het |
Ide |
G |
A |
19: 37,295,420 (GRCm39) |
T214M |
unknown |
Het |
Il12rb2 |
T |
A |
6: 67,272,262 (GRCm39) |
Q341H |
possibly damaging |
Het |
Ints1 |
T |
C |
5: 139,740,744 (GRCm39) |
E1946G |
probably benign |
Het |
Kdelr3 |
T |
C |
15: 79,410,100 (GRCm39) |
|
probably null |
Het |
Kif1b |
A |
C |
4: 149,358,306 (GRCm39) |
|
probably null |
Het |
Kri1 |
A |
G |
9: 21,191,533 (GRCm39) |
I320T |
probably damaging |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lin9 |
T |
C |
1: 180,486,646 (GRCm39) |
S111P |
probably benign |
Het |
Lpcat2b |
C |
A |
5: 107,580,773 (GRCm39) |
P34Q |
probably damaging |
Het |
Ltk |
T |
A |
2: 119,590,080 (GRCm39) |
T49S |
probably benign |
Het |
Map3k9 |
A |
T |
12: 81,780,896 (GRCm39) |
H421Q |
probably benign |
Het |
Mapkbp1 |
T |
A |
2: 119,852,201 (GRCm39) |
|
probably null |
Het |
Mcm4 |
A |
G |
16: 15,443,434 (GRCm39) |
S830P |
probably damaging |
Het |
Nek10 |
T |
A |
14: 14,860,736 (GRCm38) |
|
probably null |
Het |
Nol4l |
T |
C |
2: 153,260,026 (GRCm39) |
T143A |
probably damaging |
Het |
Or1r1 |
T |
C |
11: 73,875,362 (GRCm39) |
H24R |
possibly damaging |
Het |
Or51g1 |
T |
A |
7: 102,633,748 (GRCm39) |
T208S |
probably benign |
Het |
Or6z5 |
T |
C |
7: 6,477,742 (GRCm39) |
|
probably null |
Het |
Or7a39 |
A |
T |
10: 78,715,919 (GRCm39) |
R304S |
probably benign |
Het |
Pde4dip |
G |
T |
3: 97,616,806 (GRCm39) |
A1812D |
probably damaging |
Het |
Plekhb1 |
C |
A |
7: 100,305,960 (GRCm39) |
G26C |
probably damaging |
Het |
Polr1a |
T |
A |
6: 71,906,410 (GRCm39) |
F409I |
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,702,625 (GRCm39) |
M1197K |
probably benign |
Het |
Qrich2 |
T |
C |
11: 116,335,828 (GRCm39) |
I2114V |
probably damaging |
Het |
Rbm27 |
T |
C |
18: 42,450,731 (GRCm39) |
Y449H |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,267,195 (GRCm39) |
D927G |
probably damaging |
Het |
Secisbp2 |
C |
A |
13: 51,833,857 (GRCm39) |
Q666K |
probably damaging |
Het |
Slc45a2 |
T |
C |
15: 11,001,219 (GRCm39) |
I106T |
probably damaging |
Het |
Slx4 |
G |
T |
16: 3,797,831 (GRCm39) |
Q1518K |
probably damaging |
Het |
Smim10l1 |
T |
C |
6: 133,082,489 (GRCm39) |
F12S |
probably damaging |
Het |
Son |
T |
C |
16: 91,468,301 (GRCm39) |
V306A |
possibly damaging |
Het |
Stab1 |
A |
G |
14: 30,882,178 (GRCm39) |
S506P |
probably benign |
Het |
Syne2 |
A |
C |
12: 76,040,919 (GRCm39) |
D3859A |
probably benign |
Het |
Tab1 |
T |
A |
15: 80,032,930 (GRCm39) |
Y71* |
probably null |
Het |
Tarbp1 |
A |
C |
8: 127,174,079 (GRCm39) |
M909R |
probably damaging |
Het |
Tex15 |
T |
G |
8: 34,063,220 (GRCm39) |
S1157R |
probably benign |
Het |
Tnni3 |
G |
A |
7: 4,523,453 (GRCm39) |
T120I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,747,888 (GRCm39) |
E4387G |
probably benign |
Het |
Ugt3a1 |
G |
A |
15: 9,361,534 (GRCm39) |
|
silent |
Het |
Unc5d |
T |
C |
8: 29,156,870 (GRCm39) |
I783V |
probably benign |
Het |
Usp40 |
T |
C |
1: 87,923,474 (GRCm39) |
T266A |
probably benign |
Het |
Vmn2r59 |
C |
T |
7: 41,695,468 (GRCm39) |
V315I |
probably benign |
Het |
Zbtb48 |
G |
T |
4: 152,105,067 (GRCm39) |
H532N |
probably damaging |
Het |
Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
Het |
|
Other mutations in Nlrp9b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00235:Nlrp9b
|
APN |
7 |
19,757,203 (GRCm39) |
missense |
probably benign |
0.43 |
IGL00675:Nlrp9b
|
APN |
7 |
19,757,111 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL00755:Nlrp9b
|
APN |
7 |
19,757,447 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01131:Nlrp9b
|
APN |
7 |
19,757,462 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01134:Nlrp9b
|
APN |
7 |
19,757,112 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01464:Nlrp9b
|
APN |
7 |
19,796,580 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01514:Nlrp9b
|
APN |
7 |
19,779,859 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01731:Nlrp9b
|
APN |
7 |
19,757,342 (GRCm39) |
nonsense |
probably null |
|
IGL02427:Nlrp9b
|
APN |
7 |
19,776,426 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03013:Nlrp9b
|
APN |
7 |
19,782,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R0037:Nlrp9b
|
UTSW |
7 |
19,757,647 (GRCm39) |
missense |
probably damaging |
0.99 |
R0114:Nlrp9b
|
UTSW |
7 |
19,757,981 (GRCm39) |
missense |
probably benign |
0.00 |
R0276:Nlrp9b
|
UTSW |
7 |
19,762,423 (GRCm39) |
missense |
probably benign |
0.21 |
R0346:Nlrp9b
|
UTSW |
7 |
19,758,440 (GRCm39) |
missense |
probably damaging |
0.99 |
R0736:Nlrp9b
|
UTSW |
7 |
19,783,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R1449:Nlrp9b
|
UTSW |
7 |
19,757,089 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1540:Nlrp9b
|
UTSW |
7 |
19,782,772 (GRCm39) |
nonsense |
probably null |
|
R1648:Nlrp9b
|
UTSW |
7 |
19,760,469 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1878:Nlrp9b
|
UTSW |
7 |
19,762,489 (GRCm39) |
missense |
probably benign |
0.01 |
R1903:Nlrp9b
|
UTSW |
7 |
19,757,182 (GRCm39) |
missense |
probably benign |
0.44 |
R2191:Nlrp9b
|
UTSW |
7 |
19,757,587 (GRCm39) |
missense |
probably benign |
|
R4572:Nlrp9b
|
UTSW |
7 |
19,760,606 (GRCm39) |
critical splice donor site |
probably null |
|
R4863:Nlrp9b
|
UTSW |
7 |
19,783,521 (GRCm39) |
critical splice donor site |
probably null |
|
R4939:Nlrp9b
|
UTSW |
7 |
19,758,421 (GRCm39) |
missense |
probably damaging |
0.99 |
R5211:Nlrp9b
|
UTSW |
7 |
19,783,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R5329:Nlrp9b
|
UTSW |
7 |
19,757,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R5580:Nlrp9b
|
UTSW |
7 |
19,757,089 (GRCm39) |
missense |
probably damaging |
0.98 |
R6265:Nlrp9b
|
UTSW |
7 |
19,796,608 (GRCm39) |
missense |
probably benign |
|
R6456:Nlrp9b
|
UTSW |
7 |
19,782,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R6672:Nlrp9b
|
UTSW |
7 |
19,753,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R6750:Nlrp9b
|
UTSW |
7 |
19,757,159 (GRCm39) |
nonsense |
probably null |
|
R6896:Nlrp9b
|
UTSW |
7 |
19,757,170 (GRCm39) |
missense |
probably damaging |
0.96 |
R6968:Nlrp9b
|
UTSW |
7 |
19,783,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R7108:Nlrp9b
|
UTSW |
7 |
19,779,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R7287:Nlrp9b
|
UTSW |
7 |
19,762,381 (GRCm39) |
missense |
probably damaging |
0.97 |
R7297:Nlrp9b
|
UTSW |
7 |
19,783,438 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7485:Nlrp9b
|
UTSW |
7 |
19,757,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R7552:Nlrp9b
|
UTSW |
7 |
19,779,691 (GRCm39) |
missense |
probably benign |
0.04 |
R7573:Nlrp9b
|
UTSW |
7 |
19,753,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R7690:Nlrp9b
|
UTSW |
7 |
19,758,295 (GRCm39) |
missense |
probably benign |
0.00 |
R7839:Nlrp9b
|
UTSW |
7 |
19,758,398 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7913:Nlrp9b
|
UTSW |
7 |
19,779,725 (GRCm39) |
missense |
probably benign |
0.07 |
R7968:Nlrp9b
|
UTSW |
7 |
19,762,493 (GRCm39) |
missense |
probably benign |
0.01 |
R8113:Nlrp9b
|
UTSW |
7 |
19,753,260 (GRCm39) |
missense |
probably benign |
0.02 |
R8273:Nlrp9b
|
UTSW |
7 |
19,757,986 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8400:Nlrp9b
|
UTSW |
7 |
19,757,937 (GRCm39) |
nonsense |
probably null |
|
R9047:Nlrp9b
|
UTSW |
7 |
19,757,401 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9224:Nlrp9b
|
UTSW |
7 |
19,757,476 (GRCm39) |
missense |
probably benign |
0.44 |
R9224:Nlrp9b
|
UTSW |
7 |
19,753,217 (GRCm39) |
missense |
probably benign |
0.00 |
R9291:Nlrp9b
|
UTSW |
7 |
19,758,511 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9348:Nlrp9b
|
UTSW |
7 |
19,757,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R9398:Nlrp9b
|
UTSW |
7 |
19,783,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R9442:Nlrp9b
|
UTSW |
7 |
19,779,707 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9495:Nlrp9b
|
UTSW |
7 |
19,760,462 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9598:Nlrp9b
|
UTSW |
7 |
19,753,302 (GRCm39) |
missense |
probably benign |
0.17 |
R9757:Nlrp9b
|
UTSW |
7 |
19,782,617 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Nlrp9b
|
UTSW |
7 |
19,782,683 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Nlrp9b
|
UTSW |
7 |
19,757,668 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Nlrp9b
|
UTSW |
7 |
19,760,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAACATGTATGCTCGTGGC -3'
(R):5'- TTTACAATGGTCTGGGCAGTAG -3'
Sequencing Primer
(F):5'- ACATGTATGCTCGTGGCCAGAC -3'
(R):5'- ACAATGGTCTGGGCAGTAGATTTC -3'
|
Posted On |
2017-01-03 |