Incidental Mutation 'R6896:Nlrp9b'
| ID |
538330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp9b
|
| Ensembl Gene |
ENSMUSG00000060508 |
| Gene Name |
NLR family, pyrin domain containing 9B |
| Synonyms |
Nalp9b, Nalp-delta |
| MMRRC Submission |
044990-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6896 (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 G
at 19757170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 136
(F136V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073151]
[ENSMUST00000117909]
[ENSMUST00000137183]
[ENSMUST00000207805]
|
| AlphaFold |
Q66X22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073151
AA Change: F136V
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: F136V
| 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 damaging
Transcript: ENSMUST00000117909
AA Change: F136V
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508
AA Change: F136V
| 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 damaging
Transcript: ENSMUST00000137183
AA Change: F136V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115158
Gene: ENSMUSG00000060508
AA Change: F136V
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
98% (49/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
C |
6: 58,660,298 (GRCm39) |
L454P |
probably damaging |
Het |
| Acadm |
T |
C |
3: 153,641,957 (GRCm39) |
I192V |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,045,375 (GRCm39) |
Y436N |
probably benign |
Het |
| Ache |
G |
A |
5: 137,289,996 (GRCm39) |
V442M |
probably damaging |
Het |
| Adam39 |
A |
T |
8: 41,277,975 (GRCm39) |
N122I |
possibly damaging |
Het |
| Akap6 |
A |
T |
12: 52,934,277 (GRCm39) |
I590F |
probably benign |
Het |
| Akap8 |
T |
C |
17: 32,536,305 (GRCm39) |
N36S |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,315,526 (GRCm39) |
S933P |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,527,864 (GRCm39) |
|
probably null |
Het |
| Cdon |
T |
A |
9: 35,363,402 (GRCm39) |
M1K |
probably null |
Het |
| Cemip |
T |
A |
7: 83,647,784 (GRCm39) |
I99F |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,416,421 (GRCm39) |
T565A |
possibly damaging |
Het |
| Cfap58 |
T |
G |
19: 47,932,626 (GRCm39) |
L130R |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,514,462 (GRCm39) |
D415G |
probably damaging |
Het |
| Coch |
A |
G |
12: 51,649,652 (GRCm39) |
D321G |
possibly damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,193,291 (GRCm39) |
G554R |
possibly damaging |
Het |
| Efcab11 |
A |
G |
12: 99,849,674 (GRCm39) |
|
probably benign |
Het |
| Ermap |
G |
T |
4: 119,044,328 (GRCm39) |
S156* |
probably null |
Het |
| Fap |
G |
T |
2: 62,334,944 (GRCm39) |
Y620* |
probably null |
Het |
| Galntl5 |
T |
C |
5: 25,394,947 (GRCm39) |
|
probably null |
Het |
| Il21r |
C |
A |
7: 125,226,128 (GRCm39) |
H76N |
probably damaging |
Het |
| Itpr1 |
T |
G |
6: 108,458,355 (GRCm39) |
Y2041D |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,029,357 (GRCm39) |
N300K |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,306,432 (GRCm39) |
V285I |
possibly damaging |
Het |
| Myh15 |
A |
T |
16: 48,933,434 (GRCm39) |
Q623L |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,464,488 (GRCm39) |
|
probably null |
Het |
| Naaladl1 |
T |
A |
19: 6,159,335 (GRCm39) |
|
probably null |
Het |
| Oprd1 |
A |
T |
4: 131,844,612 (GRCm39) |
M132K |
probably damaging |
Het |
| Or10a3b |
T |
C |
7: 108,444,750 (GRCm39) |
T156A |
probably benign |
Het |
| Or4s2b |
A |
G |
2: 88,508,340 (GRCm39) |
N47S |
probably damaging |
Het |
| Or6c70 |
A |
T |
10: 129,710,623 (GRCm39) |
M1K |
probably null |
Het |
| Or9g4 |
A |
G |
2: 85,505,277 (GRCm39) |
Y73H |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,314,287 (GRCm39) |
V369D |
possibly damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,434,265 (GRCm39) |
L77P |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,298,759 (GRCm39) |
D1259G |
probably damaging |
Het |
| Pdcl |
A |
T |
2: 37,242,191 (GRCm39) |
H186Q |
probably damaging |
Het |
| Pdzd9 |
A |
T |
7: 120,262,095 (GRCm39) |
*77R |
probably null |
Het |
| Reln |
C |
T |
5: 22,104,177 (GRCm39) |
E3265K |
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,968,787 (GRCm39) |
T990A |
possibly damaging |
Het |
| Smok2a |
C |
T |
17: 13,444,758 (GRCm39) |
H112Y |
probably benign |
Het |
| Spatc1l |
G |
A |
10: 76,405,242 (GRCm39) |
R208H |
probably damaging |
Het |
| Taf7 |
T |
C |
18: 37,775,733 (GRCm39) |
D278G |
possibly damaging |
Het |
| Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
| Vmn2r78 |
C |
T |
7: 86,571,558 (GRCm39) |
T456I |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,543,157 (GRCm39) |
S148P |
probably damaging |
Het |
| Xpot |
A |
C |
10: 121,449,390 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
T |
1: 63,348,031 (GRCm39) |
R2137W |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,009,544 (GRCm39) |
N503K |
possibly damaging |
Het |
| Zfp641 |
T |
A |
15: 98,191,684 (GRCm39) |
M1L |
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 |
|
|
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'- AGATGTGTAGGTCATTCATTAGGC -3'
(R):5'- TCGGCTAAGCTTAACTCTGTGG -3'
Sequencing Primer
(F):5'- CTGCAATTCATTCTTGGGAGTATTC -3'
(R):5'- CGGCTAAGCTTAACTCTGTGGTATTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation