Incidental Mutation 'R9291:Nlrp9b'
| ID |
704279 |
| 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 # |
R9291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
19725318-19796867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19758511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 583
(S583T)
|
| 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: S583T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: S583T
| 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: 99.2%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,772,464 (GRCm39) |
N551S |
probably benign |
Het |
| Abcg5 |
C |
A |
17: 84,976,380 (GRCm39) |
V486L |
probably benign |
Het |
| Acoxl |
T |
A |
2: 127,814,493 (GRCm39) |
I303N |
probably damaging |
Het |
| Atp6v1h |
G |
T |
1: 5,220,284 (GRCm39) |
W464L |
probably null |
Het |
| Cdcp2 |
A |
G |
4: 106,964,053 (GRCm39) |
D301G |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,429,688 (GRCm39) |
D115G |
probably benign |
Het |
| Cnfn |
T |
C |
7: 25,067,476 (GRCm39) |
D67G |
possibly damaging |
Het |
| Col27a1 |
A |
C |
4: 63,142,539 (GRCm39) |
I76L |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,682,213 (GRCm39) |
V865I |
probably damaging |
Het |
| Ctf1 |
T |
A |
7: 127,316,204 (GRCm39) |
L58Q |
probably damaging |
Het |
| Dennd6b |
C |
T |
15: 89,071,590 (GRCm39) |
V276M |
possibly damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,901,215 (GRCm39) |
T483A |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,241,229 (GRCm39) |
T223A |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,944,099 (GRCm39) |
I1772T |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,359,251 (GRCm39) |
I170T |
probably damaging |
Het |
| Ehd4 |
G |
T |
2: 119,921,755 (GRCm39) |
D500E |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,883,142 (GRCm39) |
I388T |
probably damaging |
Het |
| Entpd6 |
G |
A |
2: 150,608,959 (GRCm39) |
V348M |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,056,065 (GRCm39) |
C1746* |
probably null |
Het |
| Exosc2 |
G |
T |
2: 31,560,871 (GRCm39) |
M40I |
probably benign |
Het |
| Fam193a |
T |
C |
5: 34,593,835 (GRCm39) |
Y27H |
probably damaging |
Het |
| Gm8005 |
A |
G |
14: 42,258,885 (GRCm39) |
F148L |
|
Het |
| Hectd4 |
T |
C |
5: 121,487,028 (GRCm39) |
V3341A |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,491,522 (GRCm39) |
V77A |
probably benign |
Het |
| Irf2bp1 |
T |
A |
7: 18,738,458 (GRCm39) |
C33S |
probably damaging |
Het |
| Kank4 |
A |
T |
4: 98,666,688 (GRCm39) |
H586Q |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,390,041 (GRCm39) |
N619S |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,475,140 (GRCm39) |
E13G |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,310,379 (GRCm39) |
D2731E |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,883,938 (GRCm39) |
N2942S |
probably benign |
Het |
| Maml3 |
G |
A |
3: 51,764,328 (GRCm39) |
T212M |
probably benign |
Het |
| Mill2 |
T |
C |
7: 18,575,416 (GRCm39) |
V41A |
probably benign |
Het |
| Moxd2 |
C |
A |
6: 40,857,362 (GRCm39) |
C466F |
probably damaging |
Het |
| Nefh |
A |
G |
11: 4,890,871 (GRCm39) |
S583P |
probably benign |
Het |
| Nup214 |
T |
G |
2: 31,867,806 (GRCm39) |
M91R |
probably benign |
Het |
| Or4c121 |
A |
C |
2: 89,024,138 (GRCm39) |
M80R |
possibly damaging |
Het |
| Or6c206 |
T |
C |
10: 129,097,202 (GRCm39) |
I124T |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,768 (GRCm39) |
I114N |
probably benign |
Het |
| Otud4 |
A |
G |
8: 80,372,952 (GRCm39) |
Y90C |
probably damaging |
Het |
| Papln |
C |
A |
12: 83,825,284 (GRCm39) |
T575N |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,433,372 (GRCm39) |
N3417K |
probably damaging |
Het |
| Pop7 |
A |
G |
5: 137,499,911 (GRCm39) |
*141Q |
probably null |
Het |
| Pramel26 |
A |
T |
4: 143,539,251 (GRCm39) |
Y81N |
probably benign |
Het |
| Rchy1 |
A |
G |
5: 92,099,765 (GRCm39) |
L191S |
possibly damaging |
Het |
| Rims1 |
T |
C |
1: 22,467,746 (GRCm39) |
D296G |
|
Het |
| Sftpb |
T |
A |
6: 72,286,880 (GRCm39) |
C261* |
probably null |
Het |
| Sgcd |
C |
T |
11: 46,870,166 (GRCm39) |
C265Y |
probably damaging |
Het |
| Slc44a5 |
G |
A |
3: 153,962,218 (GRCm39) |
V384M |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,716 (GRCm39) |
N132K |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,473,330 (GRCm39) |
T4861M |
probably damaging |
Het |
| Swt1 |
T |
A |
1: 151,286,694 (GRCm39) |
E266V |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,987,750 (GRCm39) |
D903G |
probably damaging |
Het |
| Tbx18 |
A |
T |
9: 87,611,535 (GRCm39) |
M165K |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,706,799 (GRCm39) |
N282S |
probably damaging |
Het |
| Tom1l2 |
T |
C |
11: 60,153,556 (GRCm39) |
I140M |
probably benign |
Het |
| Trak2 |
A |
G |
1: 58,943,058 (GRCm39) |
S783P |
probably damaging |
Het |
| Trpv4 |
G |
A |
5: 114,768,068 (GRCm39) |
T534M |
probably benign |
Het |
| Ttc6 |
G |
T |
12: 57,622,730 (GRCm39) |
R43M |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,428,875 (GRCm39) |
Y164C |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,023 (GRCm39) |
Y165C |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,847,059 (GRCm39) |
T2614K |
probably damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,698,237 (GRCm39) |
F102S |
probably benign |
Het |
| Zyg11b |
A |
G |
4: 108,108,014 (GRCm39) |
M464T |
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 |
|
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'- ATGAACAAGTCGCCGCCTTAC -3'
(R):5'- GGATACAGCACGGACACATC -3'
Sequencing Primer
(F):5'- ATGCTTTGGCTTTATACAACCC -3'
(R):5'- CACATCTATAAAATAATGCACTGGGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation