Incidental Mutation 'R4207:Nlrp10'
| ID |
318970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp10
|
| Ensembl Gene |
ENSMUSG00000049709 |
| Gene Name |
NLR family, pyrin domain containing 10 |
| Synonyms |
Nalp10, 6430548I20Rik, Pynod |
| MMRRC Submission |
041036-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4207 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
108521060-108529365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108523548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 644
(D644V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055745]
|
| AlphaFold |
Q8CCN1 |
| PDB Structure |
Solution structure of the Pyrin/PAAD-DAPIN domain in mouse NALP10 (NACHT, leucine rich repeat and PYD containing 10) [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055745
AA Change: D644V
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000050252
Gene: ENSMUSG00000049709
AA Change: D644V
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
9 |
88 |
4.13e-18 |
SMART |
|
low complexity region
|
126 |
137 |
N/A |
INTRINSIC |
|
AAA
|
161 |
302 |
1.07e-2 |
SMART |
|
low complexity region
|
576 |
597 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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). The protein encoded by this gene belongs to the NALP protein family despite lacking the LRR region. This protein likely plays a regulatory role in the innate immune system. The protein belongs to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. Other experiments indicate that this gene acts as a multifunctional negative regulator of inflammation and apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display a global defect in adaptive immune responses with impaired dendritic cell migration to lymph nodes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
| Acap2 |
T |
A |
16: 30,938,245 (GRCm39) |
N293I |
probably damaging |
Het |
| Adgrg4 |
G |
A |
X: 55,964,109 (GRCm39) |
V1893I |
possibly damaging |
Het |
| Aff1 |
T |
C |
5: 103,966,854 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
A |
G |
11: 4,981,637 (GRCm39) |
D515G |
probably damaging |
Het |
| Brk1 |
T |
C |
6: 113,592,805 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Cand1 |
T |
C |
10: 119,047,750 (GRCm39) |
D580G |
probably damaging |
Het |
| Casp4 |
A |
G |
9: 5,328,451 (GRCm39) |
D311G |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ctnnd2 |
G |
T |
15: 30,972,973 (GRCm39) |
V1033F |
probably damaging |
Het |
| Dhx29 |
G |
T |
13: 113,064,483 (GRCm39) |
A53S |
probably benign |
Het |
| Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
| Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
| Efl1 |
T |
C |
7: 82,400,024 (GRCm39) |
V592A |
probably damaging |
Het |
| Elovl7 |
A |
T |
13: 108,419,040 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Fcgr3 |
T |
A |
1: 170,881,644 (GRCm39) |
K160N |
probably benign |
Het |
| Flg |
A |
G |
3: 93,187,169 (GRCm39) |
Y207C |
probably benign |
Het |
| Fmn2 |
A |
G |
1: 174,409,521 (GRCm39) |
T585A |
unknown |
Het |
| Gm7135 |
T |
C |
1: 97,397,620 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8104 |
G |
T |
14: 42,959,091 (GRCm39) |
D94Y |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
| Kbtbd4 |
T |
C |
2: 90,740,099 (GRCm39) |
F495L |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,810 (GRCm39) |
I57V |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
| Mthfsd |
A |
G |
8: 121,832,365 (GRCm39) |
V133A |
probably damaging |
Het |
| Nav2 |
T |
A |
7: 49,246,979 (GRCm39) |
I2168N |
probably damaging |
Het |
| Nav2 |
T |
A |
7: 49,222,046 (GRCm39) |
|
probably null |
Het |
| Oplah |
C |
T |
15: 76,186,910 (GRCm39) |
R635H |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,525,253 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Or2c1 |
T |
C |
16: 3,657,434 (GRCm39) |
L199P |
probably damaging |
Het |
| Or5b117 |
T |
C |
19: 13,431,835 (GRCm39) |
I15M |
probably benign |
Het |
| Peli1 |
A |
G |
11: 21,097,115 (GRCm39) |
|
probably null |
Het |
| Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
| Pld5 |
T |
G |
1: 175,821,441 (GRCm39) |
T242P |
probably damaging |
Het |
| Rbm5 |
A |
G |
9: 107,627,682 (GRCm39) |
S420P |
probably benign |
Het |
| Rhag |
A |
T |
17: 41,142,544 (GRCm39) |
I250F |
probably damaging |
Het |
| Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
| Scaf4 |
C |
T |
16: 90,057,103 (GRCm39) |
V83I |
unknown |
Het |
| Slc24a2 |
A |
G |
4: 87,145,442 (GRCm39) |
V204A |
probably damaging |
Het |
| Slc5a8 |
G |
T |
10: 88,747,275 (GRCm39) |
L409F |
probably damaging |
Het |
| Spns3 |
A |
T |
11: 72,429,187 (GRCm39) |
V199E |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,455,227 (GRCm39) |
T3030A |
probably benign |
Het |
| Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
| Stk39 |
G |
T |
2: 68,051,264 (GRCm39) |
T527K |
probably benign |
Het |
| Sult2a1 |
T |
A |
7: 13,535,472 (GRCm39) |
T194S |
probably benign |
Het |
| Tamm41 |
AGGG |
AGG |
6: 114,989,320 (GRCm39) |
|
probably benign |
Het |
| Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
| Umodl1 |
G |
A |
17: 31,178,341 (GRCm39) |
V106I |
probably damaging |
Het |
| Vmn2r85 |
A |
C |
10: 130,254,574 (GRCm39) |
C703W |
probably damaging |
Het |
| Vmn2r92 |
G |
A |
17: 18,404,523 (GRCm39) |
V556M |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,079 (GRCm39) |
I2322V |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,766,142 (GRCm39) |
E93G |
probably damaging |
Het |
| Zfp81 |
C |
T |
17: 33,553,890 (GRCm39) |
C308Y |
probably damaging |
Het |
|
| Other mutations in Nlrp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01374:Nlrp10
|
APN |
7 |
108,523,788 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01482:Nlrp10
|
APN |
7 |
108,526,159 (GRCm39) |
missense |
probably benign |
|
|
IGL02043:Nlrp10
|
APN |
7 |
108,524,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03129:Nlrp10
|
APN |
7 |
108,524,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02835:Nlrp10
|
UTSW |
7 |
108,523,869 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0106:Nlrp10
|
UTSW |
7 |
108,524,529 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0106:Nlrp10
|
UTSW |
7 |
108,524,529 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0540:Nlrp10
|
UTSW |
7 |
108,523,492 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0607:Nlrp10
|
UTSW |
7 |
108,523,492 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1166:Nlrp10
|
UTSW |
7 |
108,524,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1248:Nlrp10
|
UTSW |
7 |
108,525,088 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1450:Nlrp10
|
UTSW |
7 |
108,524,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1459:Nlrp10
|
UTSW |
7 |
108,523,555 (GRCm39) |
missense |
probably benign |
|
|
R1567:Nlrp10
|
UTSW |
7 |
108,526,257 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1635:Nlrp10
|
UTSW |
7 |
108,523,737 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1845:Nlrp10
|
UTSW |
7 |
108,526,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Nlrp10
|
UTSW |
7 |
108,524,602 (GRCm39) |
nonsense |
probably null |
|
|
R1952:Nlrp10
|
UTSW |
7 |
108,523,770 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1953:Nlrp10
|
UTSW |
7 |
108,524,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2079:Nlrp10
|
UTSW |
7 |
108,524,835 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3615:Nlrp10
|
UTSW |
7 |
108,523,683 (GRCm39) |
missense |
probably benign |
|
|
R3616:Nlrp10
|
UTSW |
7 |
108,523,683 (GRCm39) |
missense |
probably benign |
|
|
R4786:Nlrp10
|
UTSW |
7 |
108,524,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:Nlrp10
|
UTSW |
7 |
108,523,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5568:Nlrp10
|
UTSW |
7 |
108,523,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5993:Nlrp10
|
UTSW |
7 |
108,526,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6033:Nlrp10
|
UTSW |
7 |
108,523,784 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6033:Nlrp10
|
UTSW |
7 |
108,523,784 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6170:Nlrp10
|
UTSW |
7 |
108,523,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6320:Nlrp10
|
UTSW |
7 |
108,524,953 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6935:Nlrp10
|
UTSW |
7 |
108,526,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7024:Nlrp10
|
UTSW |
7 |
108,524,405 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7081:Nlrp10
|
UTSW |
7 |
108,523,855 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7397:Nlrp10
|
UTSW |
7 |
108,523,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7720:Nlrp10
|
UTSW |
7 |
108,523,695 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7763:Nlrp10
|
UTSW |
7 |
108,525,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7776:Nlrp10
|
UTSW |
7 |
108,524,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Nlrp10
|
UTSW |
7 |
108,523,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7852:Nlrp10
|
UTSW |
7 |
108,524,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Nlrp10
|
UTSW |
7 |
108,525,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9181:Nlrp10
|
UTSW |
7 |
108,524,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9712:Nlrp10
|
UTSW |
7 |
108,524,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nlrp10
|
UTSW |
7 |
108,525,058 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAATATCTGTGGTAAGGGCTGG -3'
(R):5'- TCAGTGACAAGCAGCTTTAGTAG -3'
Sequencing Primer
(F):5'- ATTGCACATGCTAAGACTCCTGG -3'
(R):5'- TAGCGGGAAGGTACAAAGTCCATTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation