Incidental Mutation 'R9047:Nlrp9b'
| ID |
688115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp9b
|
| Ensembl Gene |
ENSMUSG00000060508 |
| Gene Name |
NLR family, pyrin domain containing 9B |
| Synonyms |
Nalp9b, Nalp-delta |
| MMRRC Submission |
068873-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19725318-19796867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19757401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 213
(I213V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073151]
[ENSMUST00000117909]
[ENSMUST00000137183]
[ENSMUST00000207805]
|
| AlphaFold |
Q66X22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073151
AA Change: I213V
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: I213V
| 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 |
possibly damaging
Transcript: ENSMUST00000137183
AA Change: I213V
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115158
Gene: ENSMUSG00000060508
AA Change: I213V
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
100% (76/76) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,644,848 (GRCm39) |
S156T |
probably damaging |
Het |
| 4930522L14Rik |
A |
G |
5: 109,885,420 (GRCm39) |
L146P |
|
Het |
| Adra1a |
T |
A |
14: 66,875,634 (GRCm39) |
M203K |
probably damaging |
Het |
| Adtrp |
G |
A |
13: 41,969,636 (GRCm39) |
T89I |
possibly damaging |
Het |
| Akt3 |
G |
T |
1: 176,886,955 (GRCm39) |
T298K |
probably damaging |
Het |
| Aldh4a1 |
G |
T |
4: 139,350,511 (GRCm39) |
|
probably benign |
Het |
| Aplf |
T |
C |
6: 87,640,779 (GRCm39) |
T77A |
possibly damaging |
Het |
| Arid4b |
T |
A |
13: 14,355,815 (GRCm39) |
W618R |
probably damaging |
Het |
| Asxl3 |
C |
A |
18: 22,585,465 (GRCm39) |
P130Q |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,585,471 (GRCm39) |
K132R |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,878,483 (GRCm39) |
M353T |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,861,038 (GRCm39) |
D375G |
probably damaging |
Het |
| Cage1 |
C |
T |
13: 38,201,338 (GRCm39) |
A656T |
possibly damaging |
Het |
| Casz1 |
C |
T |
4: 149,023,497 (GRCm39) |
P801S |
probably damaging |
Het |
| Cdc14b |
A |
T |
13: 64,368,758 (GRCm39) |
|
probably benign |
Het |
| Cdin1 |
A |
G |
2: 115,607,504 (GRCm39) |
T286A |
probably benign |
Het |
| Cox6b2 |
A |
G |
7: 4,755,086 (GRCm39) |
F63L |
probably benign |
Het |
| Cramp1 |
A |
C |
17: 25,198,603 (GRCm39) |
V773G |
possibly damaging |
Het |
| Cul7 |
A |
G |
17: 46,965,448 (GRCm39) |
E542G |
probably benign |
Het |
| Cyp2c55 |
T |
C |
19: 39,019,790 (GRCm39) |
Y243H |
possibly damaging |
Het |
| Dnah9 |
C |
A |
11: 65,962,925 (GRCm39) |
D1797Y |
possibly damaging |
Het |
| Dpep2 |
C |
A |
8: 106,715,944 (GRCm39) |
A298S |
|
Het |
| Dvl3 |
G |
A |
16: 20,342,826 (GRCm39) |
|
probably null |
Het |
| Dynlt2a3 |
A |
G |
17: 15,187,942 (GRCm39) |
Y111H |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,674,172 (GRCm39) |
D376G |
possibly damaging |
Het |
| Ffar4 |
T |
C |
19: 38,102,232 (GRCm39) |
I289T |
possibly damaging |
Het |
| Gm5565 |
T |
C |
5: 146,094,849 (GRCm39) |
Y299C |
probably damaging |
Het |
| Gm57858 |
A |
G |
3: 36,087,033 (GRCm39) |
I187T |
probably benign |
Het |
| Gpat3 |
A |
T |
5: 100,994,788 (GRCm39) |
M39L |
probably benign |
Het |
| Gpr153 |
T |
C |
4: 152,364,664 (GRCm39) |
L240P |
probably damaging |
Het |
| Gpr182 |
T |
C |
10: 127,586,517 (GRCm39) |
I145V |
probably benign |
Het |
| H2-Q4 |
A |
T |
17: 35,598,969 (GRCm39) |
T80S |
possibly damaging |
Het |
| Hnf1a |
T |
A |
5: 115,088,882 (GRCm39) |
T545S |
probably benign |
Het |
| Kif5b |
A |
C |
18: 6,208,261 (GRCm39) |
F946V |
probably benign |
Het |
| Krtap16-1 |
C |
T |
11: 99,877,167 (GRCm39) |
C79Y |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,882,697 (GRCm39) |
V2622A |
possibly damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,391,375 (GRCm39) |
Q1350L |
probably damaging |
Het |
| Map2k2 |
G |
A |
10: 80,955,498 (GRCm39) |
V294I |
probably benign |
Het |
| Meak7 |
T |
C |
8: 120,489,050 (GRCm39) |
N411S |
probably benign |
Het |
| Mtus1 |
G |
A |
8: 41,536,760 (GRCm39) |
H319Y |
possibly damaging |
Het |
| Ncdn |
T |
C |
4: 126,644,621 (GRCm39) |
D67G |
possibly damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nyap2 |
G |
A |
1: 81,275,803 (GRCm39) |
R649H |
possibly damaging |
Het |
| Or14a258 |
A |
G |
7: 86,035,248 (GRCm39) |
S207P |
probably benign |
Het |
| Or4a67 |
C |
A |
2: 88,598,299 (GRCm39) |
R120L |
probably damaging |
Het |
| Or5d20-ps1 |
T |
G |
2: 87,931,416 (GRCm39) |
D305A |
unknown |
Het |
| Pi4kb |
T |
A |
3: 94,900,428 (GRCm39) |
L354Q |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,898,190 (GRCm39) |
S944P |
probably damaging |
Het |
| Podn |
C |
T |
4: 107,878,743 (GRCm39) |
V375M |
probably damaging |
Het |
| Pramel12 |
C |
A |
4: 143,145,673 (GRCm39) |
Q381K |
possibly damaging |
Het |
| Psmb2 |
T |
A |
4: 126,599,895 (GRCm39) |
H110Q |
probably benign |
Het |
| Rasip1 |
A |
G |
7: 45,282,066 (GRCm39) |
E523G |
possibly damaging |
Het |
| Ripor1 |
T |
G |
8: 106,342,783 (GRCm39) |
C219G |
probably damaging |
Het |
| Rps6ka2 |
G |
C |
17: 7,567,678 (GRCm39) |
V714L |
probably damaging |
Het |
| Sass6 |
G |
T |
3: 116,407,647 (GRCm39) |
L254F |
probably damaging |
Het |
| Scarf2 |
G |
A |
16: 17,624,270 (GRCm39) |
G525E |
probably damaging |
Het |
| Sh3d21 |
T |
A |
4: 126,046,131 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
C |
A |
5: 35,863,827 (GRCm39) |
A787S |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,512,919 (GRCm39) |
N871I |
unknown |
Het |
| Slc48a1 |
T |
G |
15: 97,687,833 (GRCm39) |
D62E |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,936,398 (GRCm39) |
M157I |
|
Het |
| Slurp2 |
T |
C |
15: 74,614,961 (GRCm39) |
D60G |
probably benign |
Het |
| Sparcl1 |
G |
T |
5: 104,240,979 (GRCm39) |
N148K |
possibly damaging |
Het |
| Spata31e4 |
C |
T |
13: 50,856,128 (GRCm39) |
R589* |
probably null |
Het |
| Spsb2 |
T |
A |
6: 124,786,976 (GRCm39) |
N236K |
probably benign |
Het |
| Sptb |
G |
T |
12: 76,679,308 (GRCm39) |
|
probably benign |
Het |
| Ssc4d |
A |
T |
5: 135,990,030 (GRCm39) |
C41S |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,286,375 (GRCm39) |
D760E |
probably benign |
Het |
| Tesmin |
G |
T |
19: 3,439,431 (GRCm39) |
|
probably benign |
Het |
| Tiam1 |
A |
C |
16: 89,601,776 (GRCm39) |
|
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,778,946 (GRCm39) |
L1219S |
probably damaging |
Het |
| Tram1 |
T |
G |
1: 13,639,830 (GRCm39) |
I306L |
probably benign |
Het |
| Trank1 |
A |
C |
9: 111,191,500 (GRCm39) |
D503A |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,031,596 (GRCm39) |
H1044R |
|
Het |
| Ubac2 |
T |
C |
14: 122,145,626 (GRCm39) |
F95L |
probably benign |
Het |
| Vmn2r91 |
A |
T |
17: 18,326,296 (GRCm39) |
M194L |
probably benign |
Het |
| Yju2b |
C |
T |
8: 84,990,527 (GRCm39) |
R35Q |
probably damaging |
Het |
| Zdhhc1 |
G |
T |
8: 106,205,533 (GRCm39) |
H90Q |
probably damaging |
Het |
| Zfp169 |
C |
T |
13: 48,652,292 (GRCm39) |
V42I |
probably damaging |
Het |
| Zfp81 |
A |
G |
17: 33,553,387 (GRCm39) |
C476R |
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 |
|
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 |
|
|
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'- GCCAGTCACTGCAATTGTAGC -3'
(R):5'- TTGTCCCAATTCAAGAAGCAGAG -3'
Sequencing Primer
(F):5'- CAGTCACTGCAATTGTAGCAGGTAC -3'
(R):5'- GAGAACATCCCGGGAGCATTATTTTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation