Incidental Mutation 'R7690:Nlrp9b'
ID |
593334 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp9b
|
Ensembl Gene |
ENSMUSG00000060508 |
Gene Name |
NLR family, pyrin domain containing 9B |
Synonyms |
Nalp9b, Nalp-delta |
MMRRC Submission |
045754-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7690 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
19725318-19796867 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 19758295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 511
(P511T)
|
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: P511T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000072895 Gene: ENSMUSG00000060508 AA Change: P511T
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
97% (57/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,353,313 (GRCm39) |
T710S |
probably benign |
Het |
Adgrl2 |
A |
G |
3: 148,522,934 (GRCm39) |
L430P |
|
Het |
Agap1 |
T |
C |
1: 89,770,793 (GRCm39) |
S648P |
probably benign |
Het |
Alox5 |
T |
C |
6: 116,392,417 (GRCm39) |
H368R |
probably damaging |
Het |
Ano2 |
T |
C |
6: 125,990,161 (GRCm39) |
F761L |
probably damaging |
Het |
Aox4 |
T |
C |
1: 58,303,076 (GRCm39) |
V1169A |
probably damaging |
Het |
Apbb1ip |
T |
A |
2: 22,706,996 (GRCm39) |
M11K |
unknown |
Het |
Arl5a |
G |
T |
2: 52,302,077 (GRCm39) |
H112Q |
possibly damaging |
Het |
Ccdc18 |
C |
T |
5: 108,376,528 (GRCm39) |
T1323I |
probably benign |
Het |
Cmtm5 |
G |
A |
14: 55,173,938 (GRCm39) |
|
probably benign |
Het |
Cul2 |
T |
C |
18: 3,419,420 (GRCm39) |
Y194H |
probably benign |
Het |
Daglb |
T |
C |
5: 143,479,938 (GRCm39) |
I415T |
possibly damaging |
Het |
Ddx28 |
A |
G |
8: 106,736,963 (GRCm39) |
V365A |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,146,063 (GRCm39) |
|
probably null |
Het |
Eppk1 |
T |
A |
15: 75,995,946 (GRCm39) |
T312S |
probably benign |
Het |
Erich4 |
C |
A |
7: 25,314,710 (GRCm39) |
V68L |
possibly damaging |
Het |
Fam171a2 |
G |
A |
11: 102,328,660 (GRCm39) |
P700S |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,909,477 (GRCm39) |
N2175S |
probably damaging |
Het |
Fcrl6 |
T |
G |
1: 172,426,223 (GRCm39) |
R191S |
probably damaging |
Het |
Fpgt |
A |
G |
3: 154,793,467 (GRCm39) |
S187P |
probably damaging |
Het |
Gapvd1 |
T |
G |
2: 34,619,134 (GRCm39) |
T80P |
possibly damaging |
Het |
Gclm |
A |
G |
3: 122,039,705 (GRCm39) |
N24S |
probably damaging |
Het |
Gdf15 |
A |
G |
8: 71,083,997 (GRCm39) |
I89T |
possibly damaging |
Het |
Gpn2 |
A |
G |
4: 133,318,693 (GRCm39) |
E306G |
probably damaging |
Het |
Iars2 |
A |
T |
1: 185,053,194 (GRCm39) |
L359Q |
probably damaging |
Het |
Kbtbd4 |
T |
G |
2: 90,736,240 (GRCm39) |
C84G |
possibly damaging |
Het |
Manea |
A |
G |
4: 26,327,910 (GRCm39) |
V377A |
probably benign |
Het |
Map4 |
C |
T |
9: 109,828,861 (GRCm39) |
T82I |
probably damaging |
Het |
Mocos |
C |
T |
18: 24,797,082 (GRCm39) |
H81Y |
probably damaging |
Het |
Mtx1 |
T |
A |
3: 89,120,088 (GRCm39) |
T87S |
|
Het |
Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
Myom2 |
A |
T |
8: 15,161,717 (GRCm39) |
|
probably null |
Het |
Mzt1 |
C |
T |
14: 99,278,024 (GRCm39) |
C48Y |
probably damaging |
Het |
Noc2l |
A |
G |
4: 156,322,088 (GRCm39) |
E135G |
probably benign |
Het |
Nova1 |
G |
A |
12: 46,767,549 (GRCm39) |
P124L |
unknown |
Het |
Pax8 |
T |
A |
2: 24,331,682 (GRCm39) |
T134S |
probably benign |
Het |
Pde4a |
T |
A |
9: 21,077,300 (GRCm39) |
L26Q |
probably damaging |
Het |
Pde6b |
G |
A |
5: 108,567,384 (GRCm39) |
E254K |
probably damaging |
Het |
Pdlim7 |
A |
G |
13: 55,656,744 (GRCm39) |
I70T |
probably damaging |
Het |
Pinx1 |
T |
A |
14: 64,101,660 (GRCm39) |
|
probably null |
Het |
Pomt2 |
C |
A |
12: 87,177,141 (GRCm39) |
R352L |
probably damaging |
Het |
Rapgef5 |
G |
A |
12: 117,685,105 (GRCm39) |
V519I |
possibly damaging |
Het |
Rnps1 |
A |
G |
17: 24,637,168 (GRCm39) |
E16G |
unknown |
Het |
Slc4a5 |
T |
C |
6: 83,262,854 (GRCm39) |
F782S |
probably damaging |
Het |
Snap91 |
A |
G |
9: 86,707,031 (GRCm39) |
V253A |
possibly damaging |
Het |
Syce3 |
T |
C |
15: 89,281,544 (GRCm39) |
M32V |
possibly damaging |
Het |
Tcaf3 |
C |
A |
6: 42,574,069 (GRCm39) |
V48L |
probably damaging |
Het |
Tenm4 |
T |
C |
7: 96,512,740 (GRCm39) |
V1366A |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,908,494 (GRCm39) |
M1382I |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,908,501 (GRCm39) |
G1385R |
probably damaging |
Het |
Top3a |
G |
T |
11: 60,647,206 (GRCm39) |
L238I |
probably damaging |
Het |
Trim9 |
A |
T |
12: 70,295,117 (GRCm39) |
N742K |
probably benign |
Het |
Trp63 |
T |
A |
16: 25,695,483 (GRCm39) |
Y482N |
unknown |
Het |
Ttc23 |
T |
G |
7: 67,319,918 (GRCm39) |
F192V |
possibly damaging |
Het |
Uck1 |
A |
G |
2: 32,148,184 (GRCm39) |
V180A |
probably benign |
Het |
Vwa5b1 |
G |
A |
4: 138,318,244 (GRCm39) |
T541I |
probably damaging |
Het |
Zfp456 |
G |
T |
13: 67,514,913 (GRCm39) |
H264Q |
probably damaging |
Het |
Zfpm2 |
T |
G |
15: 40,818,162 (GRCm39) |
V165G |
possibly damaging |
Het |
Zup1 |
C |
T |
10: 33,806,151 (GRCm39) |
|
probably null |
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 |
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'- GCCATGTTCTATTTCCTCAAACAAG -3'
(R):5'- AGGATTTCTGCAGAGCATATGC -3'
Sequencing Primer
(F):5'- GTTCTATTTCCTCAAACAAGACAAAG -3'
(R):5'- GCAGAGCATATGCAGTCACTG -3'
|
Posted On |
2019-11-12 |