Incidental Mutation 'R1449:Nlrp9b'
| ID |
159124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp9b
|
| Ensembl Gene |
ENSMUSG00000060508 |
| Gene Name |
NLR family, pyrin domain containing 9B |
| Synonyms |
Nalp9b, Nalp-delta |
| MMRRC Submission |
039504-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1449 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
19725318-19796867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19757089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 109
(T109S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073151]
[ENSMUST00000117909]
[ENSMUST00000137183]
[ENSMUST00000207805]
|
| AlphaFold |
Q66X22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073151
AA Change: T109S
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: T109S
| 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: T109S
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508
AA Change: T109S
| 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 |
possibly damaging
Transcript: ENSMUST00000137183
AA Change: T109S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115158
Gene: ENSMUSG00000060508
AA Change: T109S
| 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: 98.8%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.4%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
G |
4: 137,182,666 (GRCm39) |
N274D |
possibly damaging |
Het |
| 6430571L13Rik |
T |
A |
9: 107,219,689 (GRCm39) |
N47K |
probably damaging |
Het |
| Aasdh |
C |
T |
5: 77,034,136 (GRCm39) |
A472T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,248,580 (GRCm39) |
T2776A |
probably damaging |
Het |
| Adamts10 |
T |
A |
17: 33,764,613 (GRCm39) |
V711D |
probably damaging |
Het |
| Adrb3 |
G |
A |
8: 27,717,415 (GRCm39) |
R345C |
probably damaging |
Het |
| Ak7 |
T |
C |
12: 105,708,520 (GRCm39) |
V325A |
possibly damaging |
Het |
| Armc6 |
G |
A |
8: 70,677,943 (GRCm39) |
L129F |
probably benign |
Het |
| Bend6 |
T |
C |
1: 33,917,424 (GRCm39) |
N10S |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,577,134 (GRCm39) |
E59G |
possibly damaging |
Het |
| Brd3 |
A |
G |
2: 27,340,263 (GRCm39) |
|
probably null |
Het |
| Brd3 |
A |
G |
2: 27,347,028 (GRCm39) |
Y369H |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,361,408 (GRCm39) |
|
probably null |
Het |
| Camk4 |
A |
G |
18: 33,072,528 (GRCm39) |
D27G |
probably damaging |
Het |
| Camkk1 |
T |
G |
11: 72,924,710 (GRCm39) |
S308A |
probably damaging |
Het |
| Catsperb |
A |
G |
12: 101,554,456 (GRCm39) |
T717A |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,212,730 (GRCm39) |
S1563R |
probably damaging |
Het |
| Cep44 |
A |
T |
8: 56,993,985 (GRCm39) |
S197R |
probably benign |
Het |
| Col3a1 |
T |
A |
1: 45,360,771 (GRCm39) |
I67N |
unknown |
Het |
| Dcaf12l1 |
T |
C |
X: 43,878,304 (GRCm39) |
T165A |
probably benign |
Het |
| Dicer1 |
T |
C |
12: 104,695,502 (GRCm39) |
Y143C |
possibly damaging |
Het |
| Dlg5 |
A |
G |
14: 24,185,711 (GRCm39) |
I1898T |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 30,985,908 (GRCm39) |
N3762D |
probably damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,653,521 (GRCm39) |
T1382S |
possibly damaging |
Het |
| Entpd3 |
A |
T |
9: 120,395,555 (GRCm39) |
R513W |
probably damaging |
Het |
| Foxred1 |
A |
G |
9: 35,120,738 (GRCm39) |
S132P |
probably damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,143,826 (GRCm39) |
I273V |
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,787,251 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
A |
13: 49,887,186 (GRCm39) |
V1253D |
probably damaging |
Het |
| Iqsec1 |
T |
A |
6: 90,667,790 (GRCm39) |
K216* |
probably null |
Het |
| Itga7 |
A |
G |
10: 128,789,370 (GRCm39) |
D971G |
probably benign |
Het |
| Kcnk2 |
G |
A |
1: 189,072,223 (GRCm39) |
S35L |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,966,212 (GRCm39) |
Y402C |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,126,241 (GRCm39) |
S484P |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,666,861 (GRCm39) |
|
probably null |
Het |
| Lhx8 |
G |
T |
3: 154,033,742 (GRCm39) |
S46* |
probably null |
Het |
| Lin7a |
T |
C |
10: 107,159,813 (GRCm39) |
S42P |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,261,585 (GRCm39) |
R1513Q |
probably damaging |
Het |
| Maml2 |
C |
A |
9: 13,531,980 (GRCm39) |
P398Q |
possibly damaging |
Het |
| Mast2 |
T |
C |
4: 116,166,210 (GRCm39) |
I1201V |
probably damaging |
Het |
| Mmp20 |
A |
T |
9: 7,642,769 (GRCm39) |
D201V |
probably damaging |
Het |
| Morn5 |
T |
A |
2: 35,947,092 (GRCm39) |
C123* |
probably null |
Het |
| Mrpl4 |
A |
G |
9: 20,918,807 (GRCm39) |
K175E |
possibly damaging |
Het |
| Nav3 |
A |
T |
10: 109,689,372 (GRCm39) |
S302T |
probably benign |
Het |
| Ndrg2 |
T |
C |
14: 52,145,591 (GRCm39) |
Y217C |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,976,803 (GRCm39) |
D159G |
probably damaging |
Het |
| Npepps |
A |
G |
11: 97,097,980 (GRCm39) |
Y909H |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,648,024 (GRCm39) |
C102R |
probably damaging |
Het |
| Or11g7 |
A |
G |
14: 50,691,378 (GRCm39) |
N290D |
probably damaging |
Het |
| Or51a25 |
A |
T |
7: 102,373,397 (GRCm39) |
F100Y |
probably damaging |
Het |
| Or6c211 |
T |
A |
10: 129,506,238 (GRCm39) |
D50V |
probably damaging |
Het |
| Or6c69b |
A |
C |
10: 129,626,723 (GRCm39) |
V245G |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,322,929 (GRCm39) |
H968R |
probably damaging |
Het |
| Pde1b |
T |
A |
15: 103,433,470 (GRCm39) |
I296N |
probably damaging |
Het |
| Phldb1 |
T |
A |
9: 44,627,930 (GRCm39) |
T172S |
probably benign |
Het |
| Plxdc2 |
T |
C |
2: 16,665,592 (GRCm39) |
V215A |
possibly damaging |
Het |
| Poln |
A |
G |
5: 34,171,682 (GRCm39) |
I695T |
probably damaging |
Het |
| Pou6f2 |
G |
T |
13: 18,347,000 (GRCm39) |
Q31K |
probably damaging |
Het |
| Psd |
T |
A |
19: 46,313,250 (GRCm39) |
Y40F |
probably damaging |
Het |
| Rnf126 |
T |
C |
10: 79,597,448 (GRCm39) |
N155D |
probably benign |
Het |
| Rpl36-ps3 |
C |
A |
12: 12,962,032 (GRCm39) |
|
noncoding transcript |
Het |
| Rrp15 |
C |
A |
1: 186,468,465 (GRCm39) |
V184F |
possibly damaging |
Het |
| Rslcan18 |
G |
T |
13: 67,250,164 (GRCm39) |
L24M |
possibly damaging |
Het |
| Sall1 |
A |
G |
8: 89,759,111 (GRCm39) |
I331T |
probably benign |
Het |
| Slamf7 |
A |
T |
1: 171,468,606 (GRCm39) |
N95K |
possibly damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,635,951 (GRCm39) |
Y339H |
probably damaging |
Het |
| Slc39a8 |
A |
G |
3: 135,532,446 (GRCm39) |
N72D |
probably benign |
Het |
| Slf1 |
A |
G |
13: 77,231,568 (GRCm39) |
S604P |
probably damaging |
Het |
| Slfn4 |
C |
T |
11: 83,079,819 (GRCm39) |
T110M |
probably benign |
Het |
| Tnpo1 |
T |
C |
13: 99,015,220 (GRCm39) |
T116A |
probably damaging |
Het |
| Tor1b |
T |
C |
2: 30,845,893 (GRCm39) |
I190T |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,800,138 (GRCm39) |
E357* |
probably null |
Het |
| Tubg2 |
G |
T |
11: 101,047,699 (GRCm39) |
E95* |
probably null |
Het |
| Ubap2 |
A |
G |
4: 41,209,351 (GRCm39) |
|
probably null |
Het |
| Ube2i |
T |
C |
17: 25,487,538 (GRCm39) |
D67G |
possibly damaging |
Het |
| Ubxn11 |
A |
G |
4: 133,852,203 (GRCm39) |
E50G |
probably damaging |
Het |
| Wnk1 |
A |
G |
6: 119,929,779 (GRCm39) |
V1246A |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,929,124 (GRCm39) |
T38A |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,664,130 (GRCm39) |
S552P |
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 |
|
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 |
|
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'- TGGGACCCTAACCATGCTTTGTTTG -3'
(R):5'- TCCTGATGCCCAATCCAACATTGC -3'
Sequencing Primer
(F):5'- TCTCAGGAACAATGGCCTTGATG -3'
(R):5'- GCCCAATCCAACATTGCTTTTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation