Incidental Mutation 'R4572:Nlrp9b'
| ID |
343402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp9b
|
| Ensembl Gene |
ENSMUSG00000060508 |
| Gene Name |
NLR family, pyrin domain containing 9B |
| Synonyms |
Nalp9b, Nalp-delta |
| MMRRC Submission |
041796-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4572 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19725318-19796867 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 19760606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073151]
[ENSMUST00000117909]
[ENSMUST00000137183]
|
| AlphaFold |
Q66X22 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073151
|
| SMART Domains |
Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
| 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 null
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 |
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 |
|
| Meta Mutation Damage Score |
0.9480 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,107,374 (GRCm39) |
I747N |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,973,268 (GRCm39) |
Y97C |
probably damaging |
Het |
| Alox12e |
A |
G |
11: 70,212,007 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,414,075 (GRCm39) |
S2014T |
probably damaging |
Het |
| Ankrd36 |
A |
T |
11: 5,639,340 (GRCm39) |
|
probably null |
Het |
| Apobec1 |
T |
C |
6: 122,558,356 (GRCm39) |
D133G |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,283,366 (GRCm39) |
I181N |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,335,060 (GRCm39) |
V646A |
probably damaging |
Het |
| Clasrp |
A |
G |
7: 19,318,389 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,330,751 (GRCm39) |
T423A |
probably benign |
Het |
| Crtap |
T |
C |
9: 114,213,874 (GRCm39) |
D227G |
probably benign |
Het |
| Cyp17a1 |
A |
G |
19: 46,658,990 (GRCm39) |
F217S |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,440,455 (GRCm39) |
M1036V |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,973,860 (GRCm39) |
I2818N |
probably benign |
Het |
| Dok6 |
T |
A |
18: 89,492,071 (GRCm39) |
I169F |
possibly damaging |
Het |
| Duox2 |
T |
A |
2: 122,112,207 (GRCm39) |
R1326S |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,796,361 (GRCm39) |
T357A |
unknown |
Het |
| Ephb2 |
A |
C |
4: 136,383,251 (GRCm39) |
F942C |
probably damaging |
Het |
| Fscn3 |
T |
A |
6: 28,430,634 (GRCm39) |
|
probably null |
Het |
| Gabrb2 |
A |
G |
11: 42,484,744 (GRCm39) |
N267S |
possibly damaging |
Het |
| Gabrr3 |
A |
T |
16: 59,282,001 (GRCm39) |
Y452F |
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,292,419 (GRCm39) |
S457P |
probably damaging |
Het |
| Gm1993 |
C |
T |
X: 25,515,656 (GRCm39) |
R77H |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,865,583 (GRCm39) |
|
probably benign |
Het |
| Hmbox1 |
A |
G |
14: 65,140,682 (GRCm39) |
|
probably null |
Het |
| Hus1 |
A |
T |
11: 8,957,617 (GRCm39) |
|
probably null |
Het |
| Ino80 |
G |
A |
2: 119,232,839 (GRCm39) |
R1160W |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,212,412 (GRCm39) |
F27L |
probably damaging |
Het |
| Kri1 |
A |
T |
9: 21,191,680 (GRCm39) |
F187L |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,691,336 (GRCm39) |
|
noncoding transcript |
Het |
| Mapk15 |
T |
C |
15: 75,870,599 (GRCm39) |
|
probably benign |
Het |
| Mrgpre |
G |
A |
7: 143,334,841 (GRCm39) |
L221F |
probably damaging |
Het |
| Mrpl50 |
A |
T |
4: 49,514,399 (GRCm39) |
S91T |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Mup15 |
A |
G |
4: 61,356,454 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
A |
G |
9: 27,005,911 (GRCm39) |
D1469G |
probably damaging |
Het |
| Npy6r |
A |
T |
18: 44,408,984 (GRCm39) |
Y135F |
probably benign |
Het |
| Or7e170 |
A |
C |
9: 19,795,275 (GRCm39) |
C109G |
probably benign |
Het |
| Phf14 |
G |
A |
6: 12,006,823 (GRCm39) |
R825Q |
probably damaging |
Het |
| Pigg |
A |
G |
5: 108,480,751 (GRCm39) |
M379V |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,701,897 (GRCm39) |
Q315L |
probably benign |
Het |
| Plxnd1 |
C |
A |
6: 115,932,717 (GRCm39) |
C1921F |
probably damaging |
Het |
| Ptger4 |
A |
C |
15: 5,272,614 (GRCm39) |
S2A |
probably benign |
Het |
| Qrfprl |
A |
T |
6: 65,431,975 (GRCm39) |
M293L |
probably benign |
Het |
| Rab4a |
A |
T |
8: 124,560,799 (GRCm39) |
D196V |
probably benign |
Het |
| Rbck1 |
G |
A |
2: 152,160,653 (GRCm39) |
Q428* |
probably null |
Het |
| Rgs14 |
A |
T |
13: 55,527,875 (GRCm39) |
N266I |
probably damaging |
Het |
| Serpina1c |
A |
T |
12: 103,864,967 (GRCm39) |
|
probably benign |
Het |
| Sesn3 |
G |
A |
9: 14,232,516 (GRCm39) |
R263H |
probably benign |
Het |
| Slfn1 |
A |
T |
11: 83,012,289 (GRCm39) |
D135V |
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,926,193 (GRCm39) |
K46E |
possibly damaging |
Het |
| Srcin1 |
A |
C |
11: 97,425,760 (GRCm39) |
D432E |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,713,888 (GRCm39) |
E217G |
probably damaging |
Het |
| Terf2ip |
A |
G |
8: 112,738,649 (GRCm39) |
D179G |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,509,343 (GRCm39) |
F556L |
possibly damaging |
Het |
| Tmed4 |
CTCTTTCT |
CTCT |
11: 6,224,461 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
G |
T |
15: 72,808,916 (GRCm39) |
Q537K |
possibly damaging |
Het |
| Trim30a |
G |
T |
7: 104,060,395 (GRCm39) |
C460* |
probably null |
Het |
| Trim35 |
T |
C |
14: 66,545,322 (GRCm39) |
Y298H |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,306,479 (GRCm39) |
H209Q |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 121,021,830 (GRCm39) |
K627R |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,928,872 (GRCm39) |
T1319A |
possibly damaging |
Het |
| Wnt9b |
G |
A |
11: 103,622,981 (GRCm39) |
R141C |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,580,611 (GRCm39) |
M37V |
probably benign |
Het |
| Zmym1 |
A |
T |
4: 126,944,628 (GRCm39) |
N186K |
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 |
|
|
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'- TGCAGAAATACAGCCGAATATTGG -3'
(R):5'- TTCCAGGCTATGTTTCCTCATGATAAC -3'
Sequencing Primer
(F):5'- CCGAATATTGGAAAACATTATGTGGC -3'
(R):5'- TCGGCAGGAAGCTCACAACTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation