Incidental Mutation 'R9442:Nlrp9b'
| ID |
713682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp9b
|
| Ensembl Gene |
ENSMUSG00000060508 |
| Gene Name |
NLR family, pyrin domain containing 9B |
| Synonyms |
Nalp9b, Nalp-delta |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9442 (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 T
at 19779707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 790
(T790I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073151]
[ENSMUST00000117909]
|
| AlphaFold |
Q66X22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073151
AA Change: T790I
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: T790I
| 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 |
possibly damaging
Transcript: ENSMUST00000117909
AA Change: T350I
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508
AA Change: T350I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
A |
17: 48,347,580 (GRCm39) |
K241N |
possibly damaging |
Het |
| Adam5 |
A |
T |
8: 25,296,510 (GRCm39) |
S312R |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,163,086 (GRCm39) |
C338Y |
possibly damaging |
Het |
| Cage1 |
T |
C |
13: 38,196,447 (GRCm39) |
E749G |
possibly damaging |
Het |
| Catspere2 |
C |
A |
1: 177,931,275 (GRCm39) |
T398K |
unknown |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Ccndbp1 |
T |
C |
2: 120,839,013 (GRCm39) |
V8A |
probably benign |
Het |
| Cenpt |
T |
C |
8: 106,575,418 (GRCm39) |
D228G |
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
T |
A |
4: 115,468,422 (GRCm39) |
N301K |
probably benign |
Het |
| Epha6 |
T |
C |
16: 60,025,850 (GRCm39) |
T531A |
probably benign |
Het |
| Gmeb1 |
A |
T |
4: 131,962,156 (GRCm39) |
C168S |
probably damaging |
Het |
| H2-DMa |
G |
A |
17: 34,357,132 (GRCm39) |
R210H |
possibly damaging |
Het |
| Ighv1-7 |
T |
G |
12: 114,502,198 (GRCm39) |
T90P |
probably damaging |
Het |
| Kalrn |
A |
C |
16: 33,916,249 (GRCm39) |
M1R |
probably null |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Krtap14 |
T |
C |
16: 88,622,865 (GRCm39) |
D38G |
possibly damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,283,964 (GRCm39) |
N63S |
probably benign |
Het |
| Map4k2 |
T |
A |
19: 6,392,814 (GRCm39) |
L152Q |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,023,048 (GRCm39) |
D78G |
possibly damaging |
Het |
| Ms4a6c |
T |
C |
19: 11,449,851 (GRCm39) |
V81A |
probably benign |
Het |
| Mtnr1b |
T |
C |
9: 15,785,660 (GRCm39) |
T33A |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,566,624 (GRCm39) |
Q1965L |
unknown |
Het |
| Nfatc2 |
A |
C |
2: 168,328,898 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,902,899 (GRCm39) |
C371S |
probably damaging |
Het |
| Ntn1 |
A |
C |
11: 68,148,485 (GRCm39) |
|
probably benign |
Het |
| Or14j3 |
A |
G |
17: 37,900,633 (GRCm39) |
S204P |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,469,357 (GRCm39) |
V727A |
probably benign |
Het |
| Phf20l1 |
C |
T |
15: 66,484,888 (GRCm39) |
Q318* |
probably null |
Het |
| Psg18 |
A |
T |
7: 18,083,185 (GRCm39) |
Y323* |
probably null |
Het |
| Ptk2b |
T |
C |
14: 66,409,189 (GRCm39) |
Y529C |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,108,598 (GRCm39) |
Y374C |
probably damaging |
Het |
| Selp |
T |
A |
1: 163,964,765 (GRCm39) |
F476I |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,478,957 (GRCm39) |
|
probably null |
Het |
| Setdb2 |
T |
G |
14: 59,639,849 (GRCm39) |
T665P |
probably damaging |
Het |
| Sorbs3 |
T |
C |
14: 70,424,387 (GRCm39) |
Y515C |
probably damaging |
Het |
| St13 |
G |
A |
15: 81,272,575 (GRCm39) |
P90S |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,836,306 (GRCm39) |
I1197N |
probably damaging |
Het |
| Svs3a |
A |
G |
2: 164,132,179 (GRCm39) |
Y250C |
probably damaging |
Het |
| Ticam1 |
T |
C |
17: 56,577,428 (GRCm39) |
I556V |
probably benign |
Het |
| Vmn1r180 |
A |
G |
7: 23,651,620 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,235 (GRCm39) |
L1492* |
probably null |
Het |
| Zfp438 |
A |
G |
18: 5,214,379 (GRCm39) |
V193A |
probably benign |
Het |
| Zfp729b |
A |
G |
13: 67,739,337 (GRCm39) |
V976A |
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 |
|
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 |
|
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'- TCTGAAAGCCATCTAGTCCTGG -3'
(R):5'- TGCCAGCAATAGGTGAAAACAC -3'
Sequencing Primer
(F):5'- GACTGCTAGCTTATAGGTCCTCAGAC -3'
(R):5'- CAGCCCTACCATAACTCCTTGAGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation