Incidental Mutation 'R7297:Nlrp9b'
ID |
566736 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp9b
|
Ensembl Gene |
ENSMUSG00000060508 |
Gene Name |
NLR family, pyrin domain containing 9B |
Synonyms |
Nalp9b, Nalp-delta |
MMRRC Submission |
045401-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7297 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
19725318-19796867 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19783438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 927
(D927G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073151]
[ENSMUST00000117909]
|
AlphaFold |
Q66X22 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073151
AA Change: D927G
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000072895 Gene: ENSMUSG00000060508 AA Change: D927G
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
AA Change: D430G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000113762 Gene: ENSMUSG00000060508 AA Change: D430G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
A |
G |
2: 25,332,088 (GRCm39) |
D1400G |
probably benign |
Het |
Abca6 |
C |
T |
11: 110,073,852 (GRCm39) |
|
probably null |
Het |
Adh4 |
A |
G |
3: 138,134,901 (GRCm39) |
I358M |
possibly damaging |
Het |
Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
Arap3 |
G |
A |
18: 38,106,616 (GRCm39) |
A1409V |
possibly damaging |
Het |
Arhgap22 |
C |
T |
14: 32,993,890 (GRCm39) |
R68* |
probably null |
Het |
Arhgef4 |
A |
T |
1: 34,846,273 (GRCm39) |
D207V |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,566,462 (GRCm39) |
T472A |
probably damaging |
Het |
Ascl1 |
A |
T |
10: 87,328,326 (GRCm39) |
S209T |
probably damaging |
Het |
Asxl1 |
T |
C |
2: 153,239,355 (GRCm39) |
V382A |
probably benign |
Het |
Atp11a |
T |
C |
8: 12,856,774 (GRCm39) |
|
probably null |
Het |
Calu |
C |
T |
6: 29,356,554 (GRCm39) |
R27* |
probably null |
Het |
Cdh20 |
A |
G |
1: 104,898,598 (GRCm39) |
T442A |
probably benign |
Het |
Chrm3 |
T |
A |
13: 9,927,869 (GRCm39) |
Q389L |
probably benign |
Het |
Cntnap1 |
A |
G |
11: 101,079,460 (GRCm39) |
T1233A |
probably benign |
Het |
Cwc15 |
G |
A |
9: 14,421,525 (GRCm39) |
C197Y |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dennd3 |
C |
T |
15: 73,429,459 (GRCm39) |
T914I |
probably damaging |
Het |
Dlx3 |
C |
A |
11: 95,011,276 (GRCm39) |
Y43* |
probably null |
Het |
Dnah17 |
A |
T |
11: 117,946,556 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
G |
11: 117,994,182 (GRCm39) |
F1081S |
probably damaging |
Het |
Dpp10 |
G |
A |
1: 123,281,157 (GRCm39) |
Q631* |
probably null |
Het |
Dsel |
T |
A |
1: 111,789,506 (GRCm39) |
D343V |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,787,997 (GRCm39) |
D655G |
possibly damaging |
Het |
Epha8 |
T |
A |
4: 136,673,224 (GRCm39) |
I187L |
probably damaging |
Het |
Exosc10 |
A |
G |
4: 148,664,834 (GRCm39) |
K781E |
probably damaging |
Het |
Exosc5 |
T |
C |
7: 25,365,751 (GRCm39) |
L200P |
probably benign |
Het |
Faiml |
T |
C |
9: 99,111,666 (GRCm39) |
E131G |
probably damaging |
Het |
Gm5145 |
G |
A |
17: 20,790,993 (GRCm39) |
V124I |
probably benign |
Het |
Grm7 |
T |
C |
6: 110,622,974 (GRCm39) |
V49A |
probably benign |
Het |
Gtf2e1 |
T |
C |
16: 37,356,427 (GRCm39) |
D35G |
probably damaging |
Het |
Heatr1 |
C |
T |
13: 12,435,941 (GRCm39) |
Q1160* |
probably null |
Het |
Herc2 |
T |
A |
7: 55,786,406 (GRCm39) |
C1584S |
probably benign |
Het |
Hsd17b3 |
T |
C |
13: 64,224,165 (GRCm39) |
I88V |
probably damaging |
Het |
Hspa14 |
A |
C |
2: 3,499,179 (GRCm39) |
L205R |
possibly damaging |
Het |
Ifna11 |
A |
C |
4: 88,738,662 (GRCm39) |
E156A |
possibly damaging |
Het |
Krt87 |
T |
C |
15: 101,387,528 (GRCm39) |
D170G |
probably benign |
Het |
Mas1 |
T |
C |
17: 13,060,745 (GRCm39) |
Y226C |
probably damaging |
Het |
Micall1 |
T |
C |
15: 79,005,097 (GRCm39) |
F190L |
unknown |
Het |
Msi2 |
A |
T |
11: 88,370,864 (GRCm39) |
L141Q |
probably damaging |
Het |
Nfkbib |
T |
C |
7: 28,465,768 (GRCm39) |
D27G |
probably benign |
Het |
Nrg3 |
T |
C |
14: 38,092,896 (GRCm39) |
D579G |
probably benign |
Het |
Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
Or8d1 |
G |
A |
9: 38,767,245 (GRCm39) |
D296N |
probably damaging |
Het |
Or8h6 |
A |
T |
2: 86,703,980 (GRCm39) |
V29E |
probably damaging |
Het |
Parp4 |
C |
T |
14: 56,885,138 (GRCm39) |
P1406S |
not run |
Het |
Pkib |
A |
T |
10: 57,612,422 (GRCm39) |
Q101L |
possibly damaging |
Het |
Plat |
C |
T |
8: 23,265,713 (GRCm39) |
T252I |
probably benign |
Het |
Ppm1d |
A |
T |
11: 85,236,821 (GRCm39) |
E533D |
probably damaging |
Het |
Psd3 |
T |
C |
8: 68,573,686 (GRCm39) |
K165R |
probably damaging |
Het |
Psg29 |
T |
A |
7: 16,944,616 (GRCm39) |
Y375* |
probably null |
Het |
Pus7 |
A |
T |
5: 23,946,908 (GRCm39) |
I644N |
probably damaging |
Het |
Rbbp9 |
A |
T |
2: 144,385,722 (GRCm39) |
M181K |
probably benign |
Het |
Rell1 |
A |
T |
5: 64,093,418 (GRCm39) |
N112K |
possibly damaging |
Het |
Simc1 |
AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG |
AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG |
13: 54,673,048 (GRCm39) |
|
probably benign |
Het |
Skint5 |
G |
A |
4: 113,400,131 (GRCm39) |
T1184M |
unknown |
Het |
Slc27a2 |
T |
A |
2: 126,420,866 (GRCm39) |
D452E |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,146,888 (GRCm39) |
I489N |
probably damaging |
Het |
Slfn14 |
T |
A |
11: 83,169,821 (GRCm39) |
K608* |
probably null |
Het |
Snx15 |
T |
A |
19: 6,170,537 (GRCm39) |
I301F |
probably damaging |
Het |
Sost |
C |
T |
11: 101,854,929 (GRCm39) |
G127R |
probably damaging |
Het |
Stt3b |
A |
G |
9: 115,106,025 (GRCm39) |
I150T |
probably damaging |
Het |
Susd2 |
T |
C |
10: 75,478,402 (GRCm39) |
D58G |
probably benign |
Het |
Tex46 |
T |
G |
4: 136,340,212 (GRCm39) |
V99G |
probably damaging |
Het |
Tgfbi |
T |
A |
13: 56,779,926 (GRCm39) |
F492I |
possibly damaging |
Het |
Tmem132c |
G |
A |
5: 127,437,281 (GRCm39) |
A257T |
probably benign |
Het |
Trim2 |
A |
T |
3: 84,117,540 (GRCm39) |
I51K |
probably damaging |
Het |
Tsn |
A |
T |
1: 118,228,591 (GRCm39) |
Y210* |
probably null |
Het |
Umodl1 |
G |
A |
17: 31,227,639 (GRCm39) |
R1324H |
probably benign |
Het |
Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
Vmn1r5 |
A |
T |
6: 56,963,204 (GRCm39) |
N293I |
possibly damaging |
Het |
Vmn2r124 |
A |
T |
17: 18,293,835 (GRCm39) |
I641F |
probably damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,227,119 (GRCm39) |
N240D |
probably benign |
Het |
Wbp1l |
A |
G |
19: 46,642,839 (GRCm39) |
D264G |
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 |
R7287:Nlrp9b
|
UTSW |
7 |
19,762,381 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- ATCTTGGGGTCACAAATCCC -3'
(R):5'- CCTCAGTGGGTTTGACCTTG -3'
Sequencing Primer
(F):5'- GCTCTGAAACAAGGATTTGCTCAGTG -3'
(R):5'- GGTTTGACCTTGAGCAAACTGACAC -3'
|
Posted On |
2019-06-26 |