Incidental Mutation 'R7839:Nlrp9b'
| ID |
606162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp9b
|
| Ensembl Gene |
ENSMUSG00000060508 |
| Gene Name |
NLR family, pyrin domain containing 9B |
| Synonyms |
Nalp9b, Nalp-delta |
| MMRRC Submission |
045893-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7839 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19725318-19796867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 19758398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 545
(R545H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073151]
[ENSMUST00000117909]
[ENSMUST00000137183]
|
| AlphaFold |
Q66X22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073151
AA Change: R545H
PolyPhen 2
Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: R545H
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,025,085 (GRCm39) |
M986K |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,413 (GRCm39) |
K129R |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,526,528 (GRCm39) |
D90G |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,411,213 (GRCm39) |
H1361Y |
probably damaging |
Het |
| Aqp4 |
T |
A |
18: 15,532,737 (GRCm39) |
I119F |
possibly damaging |
Het |
| Bfsp1 |
T |
A |
2: 143,673,770 (GRCm39) |
I313F |
possibly damaging |
Het |
| Cxcl9 |
A |
G |
5: 92,475,869 (GRCm39) |
V5A |
probably benign |
Het |
| Cyfip1 |
G |
A |
7: 55,536,483 (GRCm39) |
V304M |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,772 (GRCm39) |
V334A |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 95,987,893 (GRCm39) |
V499A |
possibly damaging |
Het |
| Cyth3 |
A |
G |
5: 143,683,509 (GRCm39) |
E136G |
probably benign |
Het |
| Degs2 |
CTTAGTGAAT |
CT |
12: 108,658,460 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,606,334 (GRCm39) |
S1229P |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,424,818 (GRCm39) |
C2087* |
probably null |
Het |
| Dop1b |
A |
T |
16: 93,560,829 (GRCm39) |
H889L |
probably damaging |
Het |
| Elf1 |
A |
G |
14: 79,773,855 (GRCm39) |
E22G |
probably benign |
Het |
| Gbgt1 |
T |
C |
2: 28,393,182 (GRCm39) |
V90A |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,294,773 (GRCm39) |
D675G |
possibly damaging |
Het |
| Glt8d1 |
G |
T |
14: 30,723,788 (GRCm39) |
|
probably benign |
Het |
| Gzf1 |
T |
A |
2: 148,525,815 (GRCm39) |
Y95* |
probably null |
Het |
| Insig2 |
T |
C |
1: 121,240,049 (GRCm39) |
I84V |
probably benign |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,256 (GRCm39) |
S3P |
unknown |
Het |
| Nell2 |
T |
C |
15: 95,196,819 (GRCm39) |
N499S |
probably benign |
Het |
| Obox7 |
T |
A |
7: 14,399,350 (GRCm39) |
I192N |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,106,026 (GRCm39) |
I80V |
probably damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,899 (GRCm39) |
I171F |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,060,583 (GRCm39) |
V3118E |
probably damaging |
Het |
| Plk3 |
T |
C |
4: 116,986,527 (GRCm39) |
T571A |
probably damaging |
Het |
| Ppa2 |
T |
C |
3: 133,082,351 (GRCm39) |
|
probably null |
Het |
| Rabl6 |
A |
T |
2: 25,482,829 (GRCm39) |
H183Q |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,238 (GRCm39) |
S387T |
possibly damaging |
Het |
| Rbm33 |
A |
G |
5: 28,573,397 (GRCm39) |
|
probably null |
Het |
| Robo4 |
T |
C |
9: 37,322,055 (GRCm39) |
S724P |
probably damaging |
Het |
| Rtf2 |
T |
C |
2: 172,308,253 (GRCm39) |
|
probably null |
Het |
| Sft2d1rt |
T |
C |
11: 45,942,887 (GRCm39) |
T79A |
possibly damaging |
Het |
| Slc45a2 |
A |
T |
15: 11,027,835 (GRCm39) |
Q468L |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,240,660 (GRCm39) |
I428V |
probably benign |
Het |
| Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
| Taar7f |
C |
A |
10: 23,925,967 (GRCm39) |
A187E |
possibly damaging |
Het |
| Tmt1a |
T |
C |
15: 100,202,957 (GRCm39) |
V77A |
possibly damaging |
Het |
| Tob1 |
T |
A |
11: 94,104,598 (GRCm39) |
Y45N |
probably damaging |
Het |
| Trappc10 |
A |
G |
10: 78,024,646 (GRCm39) |
V1161A |
possibly damaging |
Het |
| Trbv13-2 |
T |
C |
6: 41,098,521 (GRCm39) |
V32A |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,254,176 (GRCm39) |
L133Q |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,538,512 (GRCm39) |
T34729A |
probably benign |
Het |
| Uba6 |
G |
T |
5: 86,270,271 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,840,596 (GRCm39) |
D85G |
possibly damaging |
Het |
| Vmn1r176 |
T |
C |
7: 23,534,394 (GRCm39) |
D253G |
possibly damaging |
Het |
| Vmn2r34 |
T |
A |
7: 7,687,173 (GRCm39) |
I175F |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,032 (GRCm39) |
I215N |
probably damaging |
Het |
| Vwa5a |
C |
A |
9: 38,634,799 (GRCm39) |
S202R |
probably damaging |
Het |
| Zfp383 |
G |
A |
7: 29,614,483 (GRCm39) |
C246Y |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,395,963 (GRCm39) |
D208G |
probably damaging |
Het |
| Zfp992 |
C |
A |
4: 146,550,875 (GRCm39) |
L199I |
probably benign |
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 |
|
R5696:Nlrp9b
|
UTSW |
7 |
19,758,417 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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'- GAAACATGTATGCTCGTGGCC -3'
(R):5'- AATGGTCTGGGCAGTAGATTTC -3'
Sequencing Primer
(F):5'- AGACCCAGTGGCTCCAGTTAG -3'
(R):5'- GCAGAGCATATGCAGTCA -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation