Incidental Mutation 'R8273:Nlrp9b'
| ID |
637844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp9b
|
| Ensembl Gene |
ENSMUSG00000060508 |
| Gene Name |
NLR family, pyrin domain containing 9B |
| Synonyms |
Nalp9b, Nalp-delta |
| MMRRC Submission |
067696-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8273 (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 19757986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 408
(E408K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073151]
[ENSMUST00000117909]
[ENSMUST00000137183]
[ENSMUST00000207805]
|
| AlphaFold |
Q66X22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073151
AA Change: E408K
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: E408K
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207805
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (62/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,211 (GRCm39) |
V467I |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,575,668 (GRCm39) |
G167E |
probably damaging |
Het |
| Ano2 |
G |
A |
6: 125,959,683 (GRCm39) |
V648M |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,112,990 (GRCm39) |
C954R |
unknown |
Het |
| Atp13a4 |
T |
G |
16: 29,290,720 (GRCm39) |
Y243S |
|
Het |
| Bend3 |
T |
G |
10: 43,386,899 (GRCm39) |
C431G |
probably damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,812,599 (GRCm39) |
R52C |
probably damaging |
Het |
| Ccl22 |
T |
C |
8: 95,473,619 (GRCm39) |
W55R |
probably damaging |
Het |
| Ccnk |
A |
G |
12: 108,152,758 (GRCm39) |
Y25C |
probably damaging |
Het |
| Cntnap5a |
C |
T |
1: 116,499,271 (GRCm39) |
P1174S |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,946,546 (GRCm39) |
|
probably null |
Het |
| Copg2 |
C |
T |
6: 30,793,061 (GRCm39) |
V425M |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,172,664 (GRCm39) |
T265S |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,053,582 (GRCm39) |
E2936G |
probably benign |
Het |
| Dync2i2 |
A |
T |
2: 29,921,903 (GRCm39) |
V486D |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,499,096 (GRCm39) |
D324G |
probably benign |
Het |
| F11 |
T |
A |
8: 45,701,644 (GRCm39) |
H363L |
possibly damaging |
Het |
| F7 |
T |
C |
8: 13,083,981 (GRCm39) |
V222A |
probably benign |
Het |
| Fars2 |
A |
G |
13: 36,594,093 (GRCm39) |
D366G |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Flot2 |
A |
G |
11: 77,950,021 (GRCm39) |
I417V |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,077,525 (GRCm39) |
F295S |
probably damaging |
Het |
| Gpr89 |
G |
A |
3: 96,812,505 (GRCm39) |
T12I |
probably benign |
Het |
| Gprc6a |
T |
C |
10: 51,507,370 (GRCm39) |
D53G |
probably benign |
Het |
| Gtf2e1 |
T |
A |
16: 37,343,213 (GRCm39) |
I184F |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,454,474 (GRCm39) |
R152H |
probably benign |
Het |
| Haus3 |
A |
G |
5: 34,311,435 (GRCm39) |
F532L |
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,407,520 (GRCm39) |
|
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,953,080 (GRCm39) |
L150Q |
possibly damaging |
Het |
| Lzts3 |
C |
T |
2: 130,476,801 (GRCm39) |
R549Q |
possibly damaging |
Het |
| Mbd5 |
T |
A |
2: 49,168,891 (GRCm39) |
L1354Q |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,043,815 (GRCm39) |
D801G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,795 (GRCm39) |
T1411S |
unknown |
Het |
| Nalcn |
C |
A |
14: 123,554,436 (GRCm39) |
G954C |
probably damaging |
Het |
| Oaz3 |
A |
G |
3: 94,342,434 (GRCm39) |
L119P |
probably damaging |
Het |
| Or2w6 |
A |
G |
13: 21,843,377 (GRCm39) |
F39L |
probably damaging |
Het |
| Pcdhgb5 |
T |
C |
18: 37,865,240 (GRCm39) |
V345A |
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,280,009 (GRCm39) |
Y758N |
probably benign |
Het |
| Pea15a |
T |
A |
1: 172,026,812 (GRCm39) |
H65L |
probably damaging |
Het |
| Pigm |
T |
A |
1: 172,205,524 (GRCm39) |
I420N |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,803 (GRCm39) |
F580L |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,607,644 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,649,105 (GRCm39) |
N1225D |
probably benign |
Het |
| Rbbp6 |
G |
A |
7: 122,589,547 (GRCm39) |
D412N |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rtl1 |
A |
G |
12: 109,559,149 (GRCm39) |
Y897H |
possibly damaging |
Het |
| Scube2 |
A |
T |
7: 109,408,383 (GRCm39) |
F688Y |
probably benign |
Het |
| Sgo2b |
C |
A |
8: 64,377,735 (GRCm39) |
R1166L |
unknown |
Het |
| Slc12a2 |
G |
T |
18: 58,047,338 (GRCm39) |
|
probably benign |
Het |
| Smpdl3b |
T |
A |
4: 132,465,712 (GRCm39) |
H236L |
probably damaging |
Het |
| Spata9 |
C |
A |
13: 76,125,666 (GRCm39) |
|
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,477,667 (GRCm39) |
|
probably benign |
Het |
| Stc2 |
T |
A |
11: 31,319,777 (GRCm39) |
N29I |
possibly damaging |
Het |
| Sun5 |
A |
T |
2: 153,707,243 (GRCm39) |
M145K |
possibly damaging |
Het |
| Tas2r106 |
T |
C |
6: 131,655,018 (GRCm39) |
I278V |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,727,975 (GRCm39) |
I565M |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,910,853 (GRCm39) |
K79R |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,737,721 (GRCm39) |
Y4319N |
unknown |
Het |
| Usp28 |
T |
C |
9: 48,938,182 (GRCm39) |
L584P |
probably damaging |
Het |
| Wdr27 |
A |
G |
17: 15,049,838 (GRCm39) |
S777P |
probably benign |
Het |
| Wee1 |
A |
G |
7: 109,723,691 (GRCm39) |
D202G |
probably benign |
Het |
| Wnt5a |
T |
C |
14: 28,244,562 (GRCm39) |
Y270H |
probably damaging |
Het |
| Zfp318 |
G |
A |
17: 46,723,301 (GRCm39) |
C1768Y |
probably 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 |
|
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 |
|
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 |
|
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'- GCAATCCTTATCTATGCTGGATGTTC -3'
(R):5'- GCTTCCAATGACTGGGACAC -3'
Sequencing Primer
(F):5'- TTAAAGTGGCAGTTTGACAGGG -3'
(R):5'- GCTTCCAATGACTGGGACACATATG -3'
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| Posted On |
2020-07-28 |
Incidental Mutation