Incidental Mutation 'R7287:Nlrp9b'
| ID |
566090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp9b
|
| Ensembl Gene |
ENSMUSG00000060508 |
| Gene Name |
NLR family, pyrin domain containing 9B |
| Synonyms |
Nalp9b, Nalp-delta |
| MMRRC Submission |
045321-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7287 (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 C
at 19762381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 673
(C673R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073151]
[ENSMUST00000117909]
[ENSMUST00000137183]
|
| AlphaFold |
Q66X22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073151
AA Change: C673R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: C673R
| 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: C233R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508
AA Change: C233R
| 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: 99.4%
|
| Validation Efficiency |
100% (71/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,604,861 (GRCm39) |
D656G |
possibly damaging |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,762,534 (GRCm39) |
H1209R |
probably damaging |
Het |
| Adam26a |
T |
C |
8: 44,023,380 (GRCm39) |
T37A |
possibly damaging |
Het |
| Adamts9 |
C |
T |
6: 92,866,984 (GRCm39) |
R685Q |
possibly damaging |
Het |
| Anapc7 |
T |
A |
5: 122,571,499 (GRCm39) |
N191K |
probably benign |
Het |
| Ankrd26 |
C |
T |
6: 118,526,598 (GRCm39) |
|
probably null |
Het |
| Ap5z1 |
T |
C |
5: 142,459,802 (GRCm39) |
L484P |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,063,993 (GRCm39) |
D77G |
|
Het |
| Atp10a |
T |
A |
7: 58,477,017 (GRCm39) |
D1213E |
probably damaging |
Het |
| B3gnt8 |
T |
C |
7: 25,328,395 (GRCm39) |
L275P |
probably damaging |
Het |
| Bltp2 |
G |
A |
11: 78,163,709 (GRCm39) |
R1059H |
possibly damaging |
Het |
| Cab39 |
A |
G |
1: 85,746,182 (GRCm39) |
E21G |
probably benign |
Het |
| Capn15 |
G |
T |
17: 26,179,429 (GRCm39) |
S948R |
probably damaging |
Het |
| Cbarp |
T |
C |
10: 79,973,154 (GRCm39) |
T15A |
unknown |
Het |
| Ccdc81 |
C |
T |
7: 89,542,331 (GRCm39) |
A182T |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,922,688 (GRCm39) |
H766R |
probably benign |
Het |
| Cfl1 |
T |
C |
19: 5,542,562 (GRCm39) |
V14A |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,850,312 (GRCm39) |
I875T |
probably benign |
Het |
| Cidec |
T |
A |
6: 113,405,359 (GRCm39) |
E121D |
probably benign |
Het |
| Clpx |
C |
A |
9: 65,207,295 (GRCm39) |
Y64* |
probably null |
Het |
| Cntn1 |
T |
A |
15: 92,143,833 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
A |
G |
2: 170,327,826 (GRCm39) |
L472P |
probably damaging |
Het |
| Dcdc2c |
G |
T |
12: 28,566,685 (GRCm39) |
D159E |
probably benign |
Het |
| Emp1 |
T |
C |
6: 135,357,167 (GRCm39) |
F82L |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,404 (GRCm39) |
T619A |
probably benign |
Het |
| Fgf15 |
A |
T |
7: 144,450,531 (GRCm39) |
D39V |
probably benign |
Het |
| Galnt12 |
T |
G |
4: 47,108,525 (GRCm39) |
F221V |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,628,965 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
G |
A |
4: 137,256,867 (GRCm39) |
V1537I |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,025,154 (GRCm39) |
|
probably null |
Het |
| Insr |
G |
A |
8: 3,219,717 (GRCm39) |
T935I |
probably benign |
Het |
| Itgax |
G |
A |
7: 127,747,677 (GRCm39) |
C1031Y |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Kmt5b |
T |
C |
19: 3,854,501 (GRCm39) |
Y255H |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,051,877 (GRCm39) |
Y292N |
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,917,717 (GRCm39) |
F318S |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,070,076 (GRCm39) |
N311D |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Npnt |
A |
G |
3: 132,612,563 (GRCm39) |
V74A |
probably benign |
Het |
| Or10ak12 |
T |
A |
4: 118,666,939 (GRCm39) |
T41S |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,669 (GRCm39) |
I47F |
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,690,347 (GRCm39) |
Q677L |
probably benign |
Het |
| Pmel |
C |
T |
10: 128,551,095 (GRCm39) |
Q113* |
probably null |
Het |
| Pom121l2 |
T |
A |
13: 22,168,502 (GRCm39) |
F924L |
probably benign |
Het |
| Poteg |
G |
A |
8: 27,943,372 (GRCm39) |
R214K |
probably null |
Het |
| Pprc1 |
G |
T |
19: 46,059,793 (GRCm39) |
S1480I |
unknown |
Het |
| Secisbp2l |
A |
G |
2: 125,582,289 (GRCm39) |
S1056P |
probably benign |
Het |
| Selenoo |
T |
C |
15: 88,982,903 (GRCm39) |
F477L |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,837,114 (GRCm39) |
D121G |
probably damaging |
Het |
| Slc25a11 |
T |
C |
11: 70,536,181 (GRCm39) |
D211G |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,253,752 (GRCm39) |
D131G |
probably benign |
Het |
| Tcf25 |
G |
A |
8: 124,100,711 (GRCm39) |
A34T |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,205,818 (GRCm39) |
Y530H |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
G |
T |
5: 128,061,415 (GRCm39) |
Q396K |
probably damaging |
Het |
| Tmem154 |
A |
G |
3: 84,597,870 (GRCm39) |
T136A |
possibly damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,763,742 (GRCm39) |
T415A |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,517,925 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
T |
C |
7: 4,128,657 (GRCm39) |
Y185H |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,254,852 (GRCm39) |
T535S |
probably benign |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,201 (GRCm39) |
L23P |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,829,040 (GRCm39) |
H78L |
possibly damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,460 (GRCm39) |
T608A |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,614,430 (GRCm39) |
I1104V |
|
Het |
| Zbtb2 |
C |
T |
10: 4,318,986 (GRCm39) |
D347N |
possibly damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,575,453 (GRCm39) |
S543T |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,692 (GRCm39) |
N518S |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,016,775 (GRCm39) |
V852A |
possibly 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 |
|
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'- ATGCTCTAGGTGTTATACAGATGTG -3'
(R):5'- TGACTTACAGCAGCTCCTCC -3'
Sequencing Primer
(F):5'- AGATCTGAGTAGCTTGAGACTTAG -3'
(R):5'- CCACTCTGCATGCTGAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation