Incidental Mutation 'R6265:Nlrp9b'
ID |
506945 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp9b
|
Ensembl Gene |
ENSMUSG00000060508 |
Gene Name |
NLR family, pyrin domain containing 9B |
Synonyms |
Nalp9b, Nalp-delta |
MMRRC Submission |
044438-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6265 (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 19796608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 986
(F986I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073151]
[ENSMUST00000117909]
|
AlphaFold |
Q66X22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073151
AA Change: F986I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000072895 Gene: ENSMUSG00000060508 AA Change: F986I
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (65/65) |
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 |
1700013G24Rik |
C |
T |
4: 137,181,986 (GRCm39) |
P47L |
probably damaging |
Het |
Acot1 |
T |
C |
12: 84,063,687 (GRCm39) |
I265T |
probably benign |
Het |
Amotl1 |
T |
C |
9: 14,482,951 (GRCm39) |
D587G |
possibly damaging |
Het |
Anks1b |
T |
G |
10: 90,777,362 (GRCm39) |
D1117E |
probably damaging |
Het |
Art4 |
T |
G |
6: 136,831,886 (GRCm39) |
N85T |
probably damaging |
Het |
Asb3 |
C |
A |
11: 31,035,143 (GRCm39) |
Q462K |
probably benign |
Het |
Atcay |
C |
T |
10: 81,049,114 (GRCm39) |
E163K |
possibly damaging |
Het |
Atp6v0e |
T |
C |
17: 26,895,507 (GRCm39) |
V20A |
possibly damaging |
Het |
Atp7b |
G |
A |
8: 22,505,943 (GRCm39) |
Q520* |
probably null |
Het |
Baat |
A |
T |
4: 49,502,836 (GRCm39) |
D95E |
possibly damaging |
Het |
Cars2 |
TCCCC |
TCCC |
8: 11,579,599 (GRCm39) |
|
probably null |
Het |
Ccdc24 |
G |
A |
4: 117,728,374 (GRCm39) |
Q47* |
probably null |
Het |
Cep170b |
C |
A |
12: 112,710,993 (GRCm39) |
Q1488K |
probably damaging |
Het |
Cldn24 |
A |
C |
8: 48,275,374 (GRCm39) |
D66A |
probably benign |
Het |
Cln5 |
C |
A |
14: 103,310,663 (GRCm39) |
T110K |
probably damaging |
Het |
Clvs2 |
C |
A |
10: 33,404,511 (GRCm39) |
S235I |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,705,060 (GRCm39) |
G730R |
unknown |
Het |
Crim1 |
C |
T |
17: 78,677,514 (GRCm39) |
P905L |
probably benign |
Het |
Cxxc4 |
T |
C |
3: 133,963,824 (GRCm39) |
V356A |
probably benign |
Het |
Dctn6 |
G |
T |
8: 34,562,057 (GRCm39) |
N93K |
probably damaging |
Het |
Dnah9 |
G |
A |
11: 66,058,920 (GRCm39) |
A125V |
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,342,577 (GRCm39) |
I1307T |
probably benign |
Het |
Dpy19l1 |
T |
A |
9: 24,343,667 (GRCm39) |
I493F |
possibly damaging |
Het |
Ebf2 |
A |
G |
14: 67,661,509 (GRCm39) |
I546V |
probably benign |
Het |
Fbll1 |
T |
C |
11: 35,688,636 (GRCm39) |
E209G |
probably damaging |
Het |
Foxj2 |
G |
A |
6: 122,805,133 (GRCm39) |
A2T |
probably damaging |
Het |
Foxs1 |
A |
T |
2: 152,774,098 (GRCm39) |
C318* |
probably null |
Het |
Gorab |
T |
C |
1: 163,214,199 (GRCm39) |
T244A |
possibly damaging |
Het |
Gtsf1l |
C |
A |
2: 162,929,583 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
C |
9: 66,279,298 (GRCm39) |
S69P |
probably benign |
Het |
Hpca |
C |
T |
4: 129,012,445 (GRCm39) |
W30* |
probably null |
Het |
Ing3 |
C |
A |
6: 21,953,813 (GRCm39) |
Q85K |
probably damaging |
Het |
Klhdc8b |
T |
C |
9: 108,325,624 (GRCm39) |
E264G |
probably damaging |
Het |
Lair1 |
T |
A |
7: 4,058,826 (GRCm39) |
|
probably benign |
Het |
Lama1 |
T |
C |
17: 68,057,650 (GRCm39) |
Y575H |
probably damaging |
Het |
Lamtor2 |
C |
A |
3: 88,458,020 (GRCm39) |
G29* |
probably null |
Het |
Loxhd1 |
A |
T |
18: 77,449,426 (GRCm39) |
D341V |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,296,684 (GRCm39) |
D3290V |
probably damaging |
Het |
Matn2 |
A |
T |
15: 34,399,301 (GRCm39) |
D396V |
probably damaging |
Het |
Me3 |
T |
A |
7: 89,498,951 (GRCm39) |
D510E |
probably benign |
Het |
Melk |
A |
G |
4: 44,318,109 (GRCm39) |
Y170C |
probably damaging |
Het |
Mgat2 |
T |
C |
12: 69,231,567 (GRCm39) |
V47A |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,278,049 (GRCm39) |
I631T |
probably damaging |
Het |
Myo5b |
T |
A |
18: 74,710,511 (GRCm39) |
|
probably null |
Het |
Myo7b |
A |
T |
18: 32,131,203 (GRCm39) |
D521E |
probably damaging |
Het |
Or8k39 |
A |
G |
2: 86,563,299 (GRCm39) |
L219P |
probably damaging |
Het |
Patj |
A |
G |
4: 98,357,804 (GRCm39) |
D690G |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,184,954 (GRCm39) |
S5P |
probably damaging |
Het |
Reep4 |
A |
T |
14: 70,785,143 (GRCm39) |
S150C |
probably damaging |
Het |
Slc25a21 |
T |
C |
12: 57,243,685 (GRCm39) |
R14G |
probably benign |
Het |
Slc6a6 |
G |
C |
6: 91,731,896 (GRCm39) |
R575T |
probably damaging |
Het |
Speg |
T |
A |
1: 75,383,323 (GRCm39) |
Y886* |
probably null |
Het |
Tas2r103 |
A |
C |
6: 133,013,494 (GRCm39) |
F191V |
probably damaging |
Het |
Tbc1d19 |
A |
G |
5: 53,995,266 (GRCm39) |
D145G |
probably benign |
Het |
Tex47 |
T |
A |
5: 7,355,461 (GRCm39) |
I214N |
probably damaging |
Het |
Tnnt3 |
A |
T |
7: 142,055,382 (GRCm39) |
D3V |
probably damaging |
Het |
Trdv2-1 |
T |
G |
14: 54,183,842 (GRCm39) |
S24A |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,179,951 (GRCm39) |
D3377G |
possibly damaging |
Het |
Ugt3a1 |
A |
T |
15: 9,361,665 (GRCm39) |
D147V |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,446,843 (GRCm39) |
D103E |
probably benign |
Homo |
Vmn1r168 |
A |
G |
7: 23,240,961 (GRCm39) |
I273V |
probably benign |
Het |
Vmn2r61 |
T |
C |
7: 41,915,915 (GRCm39) |
I176T |
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,956,463 (GRCm39) |
D53V |
probably benign |
Het |
Zbtb8os |
A |
T |
4: 129,229,775 (GRCm39) |
|
probably benign |
Het |
Zfp551 |
C |
T |
7: 12,149,339 (GRCm39) |
R690Q |
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 |
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'- TGGGGACTGATGACAGAGTC -3'
(R):5'- AGCTGCTGAGAAAGACACCTAG -3'
Sequencing Primer
(F):5'- CTTAACATGTGTGCAGCAGC -3'
(R):5'- AGACACCTAGTGAAGACATGTTAC -3'
|
Posted On |
2018-03-15 |