Incidental Mutation 'R6968:Nlrp9b'
| ID |
542105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp9b
|
| Ensembl Gene |
ENSMUSG00000060508 |
| Gene Name |
NLR family, pyrin domain containing 9B |
| Synonyms |
Nalp9b, Nalp-delta |
| MMRRC Submission |
045078-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6968 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19725318-19796867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19783433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 925
(N925K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073151]
[ENSMUST00000117909]
|
| AlphaFold |
Q66X22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073151
AA Change: N925K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: N925K
| 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
AA Change: N428K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508
AA Change: N428K
| 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: 99.2%
- 20x: 97.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apip |
C |
T |
2: 102,919,798 (GRCm39) |
L125F |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,276 (GRCm39) |
V1009A |
probably benign |
Het |
| Asah2 |
A |
T |
19: 31,989,913 (GRCm39) |
I489K |
probably benign |
Het |
| Bace1 |
A |
G |
9: 45,766,263 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ccdc162 |
T |
C |
10: 41,549,840 (GRCm39) |
T348A |
possibly damaging |
Het |
| Cdkn2aip |
C |
A |
8: 48,166,922 (GRCm39) |
|
probably benign |
Het |
| Cep78 |
A |
C |
19: 15,959,102 (GRCm39) |
F111V |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,085,281 (GRCm39) |
L784Q |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,683 (GRCm39) |
C398Y |
probably benign |
Het |
| Cmip |
T |
C |
8: 118,103,895 (GRCm39) |
Y128H |
probably damaging |
Het |
| Cpne2 |
C |
T |
8: 95,275,130 (GRCm39) |
P46L |
probably damaging |
Het |
| Cyp2w1 |
A |
G |
5: 139,339,746 (GRCm39) |
Q112R |
probably damaging |
Het |
| Entpd3 |
A |
T |
9: 120,389,722 (GRCm39) |
E336V |
probably benign |
Het |
| Fbxw28 |
A |
C |
9: 109,159,856 (GRCm39) |
S197A |
probably benign |
Het |
| Foxk2 |
T |
C |
11: 121,151,308 (GRCm39) |
F118L |
possibly damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Hinfp |
A |
C |
9: 44,209,282 (GRCm39) |
S306A |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,262,467 (GRCm39) |
V1663E |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,571,086 (GRCm39) |
I125T |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,877,878 (GRCm39) |
E592K |
probably benign |
Het |
| Krt23 |
T |
A |
11: 99,371,900 (GRCm39) |
E317V |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,835,857 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
T |
13: 102,934,586 (GRCm39) |
N152K |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mier2 |
G |
A |
10: 79,376,476 (GRCm39) |
|
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,794,860 (GRCm39) |
T584A |
probably benign |
Het |
| Necab1 |
T |
C |
4: 14,957,852 (GRCm39) |
E335G |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 56,998,758 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,329,499 (GRCm39) |
I239V |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,779,409 (GRCm39) |
D562G |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,273,155 (GRCm39) |
|
probably null |
Het |
| Or1e31 |
A |
G |
11: 73,690,205 (GRCm39) |
I126T |
possibly damaging |
Het |
| Ormdl3 |
T |
A |
11: 98,474,941 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdh10 |
T |
A |
3: 45,333,977 (GRCm39) |
V97D |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,433,658 (GRCm39) |
F847L |
probably damaging |
Het |
| Ppp1r13b |
C |
A |
12: 111,799,612 (GRCm39) |
V722F |
possibly damaging |
Het |
| Rhoh |
A |
G |
5: 66,049,862 (GRCm39) |
D44G |
possibly damaging |
Het |
| Riox1 |
C |
T |
12: 83,998,147 (GRCm39) |
R228C |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
| Saxo2 |
T |
C |
7: 82,292,969 (GRCm39) |
T43A |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Sema3f |
C |
T |
9: 107,568,648 (GRCm39) |
|
probably null |
Het |
| Snap25 |
T |
C |
2: 136,611,690 (GRCm39) |
M64T |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,597,426 (GRCm39) |
N1410S |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,774 (GRCm39) |
I231T |
probably damaging |
Het |
| Stam |
A |
T |
2: 14,120,829 (GRCm39) |
H78L |
probably damaging |
Het |
| Suox |
C |
T |
10: 128,507,702 (GRCm39) |
V109I |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,067,041 (GRCm39) |
R7075G |
probably benign |
Het |
| Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,550,217 (GRCm39) |
R482Q |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,781,650 (GRCm39) |
V1440A |
probably benign |
Het |
| Togaram2 |
A |
G |
17: 72,016,608 (GRCm39) |
D655G |
probably damaging |
Het |
| Trgv2 |
A |
T |
13: 19,520,896 (GRCm39) |
I66K |
probably damaging |
Het |
| Vmn1r113 |
A |
T |
7: 20,521,876 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,437,866 (GRCm39) |
H206L |
probably benign |
Het |
| Zan |
T |
A |
5: 137,460,075 (GRCm39) |
Y1272F |
unknown |
Het |
| Zfp39 |
T |
C |
11: 58,782,306 (GRCm39) |
H152R |
probably benign |
Het |
| Zfp41 |
T |
A |
15: 75,490,310 (GRCm39) |
Y87* |
probably null |
Het |
| Zfp933 |
A |
T |
4: 147,910,654 (GRCm39) |
L314H |
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 |
|
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'- AACATCTTGGGGTCACAAATCC -3'
(R):5'- CAGTGGGTTTGACCTTGAGC -3'
Sequencing Primer
(F):5'- GCTCTGAAACAAGGATTTGCTCAGTG -3'
(R):5'- GGTTTGACCTTGAGCAAACTGACAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation