Incidental Mutation 'R4483:Nlrp6'
| ID |
331496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp6
|
| Ensembl Gene |
ENSMUSG00000038745 |
| Gene Name |
NLR family, pyrin domain containing 6 |
| Synonyms |
Nalp6 |
| MMRRC Submission |
041739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4483 (G1)
|
| Quality Score |
142 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140500815-140509105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140501694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 87
(D87G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106045]
[ENSMUST00000183845]
[ENSMUST00000184560]
|
| AlphaFold |
Q91WS2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106045
AA Change: D57G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: D57G
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
15 |
96 |
5.44e-27 |
SMART |
|
low complexity region
|
158 |
169 |
N/A |
INTRINSIC |
|
Pfam:NACHT
|
194 |
363 |
8.6e-44 |
PFAM |
|
coiled coil region
|
590 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
697 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
715 |
763 |
9.43e-6 |
PROSPERO |
|
internal_repeat_1
|
828 |
876 |
9.43e-6 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183761
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183845
AA Change: D57G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: D57G
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
15 |
96 |
5.44e-27 |
SMART |
|
low complexity region
|
158 |
169 |
N/A |
INTRINSIC |
|
Pfam:NACHT
|
194 |
363 |
5.5e-43 |
PFAM |
|
coiled coil region
|
590 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
694 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
702 |
750 |
1.26e-5 |
PROSPERO |
|
internal_repeat_1
|
815 |
863 |
1.26e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184560
AA Change: D87G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: D87G
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
45 |
126 |
5.44e-27 |
SMART |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
Pfam:NACHT
|
224 |
393 |
8.2e-43 |
PFAM |
|
coiled coil region
|
620 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
724 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
732 |
780 |
1.55e-5 |
PROSPERO |
|
internal_repeat_1
|
845 |
893 |
1.55e-5 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.2937 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. [provided by RefSeq, Feb 2013]
PHENOTYPE: Nullizygous mutations lead to altered colonic microbiota, increased susceptibility to induced colitis and/or inflammation-associated colon tumorigenesis. Homozygotes for a null allele show lower blood pressure and sex-specific changes in urine concentrating ability, cognition, and anxiety behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,567,349 (GRCm39) |
G5275S |
probably benign |
Het |
| Akap11 |
A |
G |
14: 78,747,699 (GRCm39) |
S1563P |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,511,680 (GRCm39) |
V229A |
probably damaging |
Het |
| AW112010 |
A |
G |
19: 11,027,757 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc158 |
A |
G |
5: 92,781,187 (GRCm39) |
S873P |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,802,214 (GRCm39) |
V1104A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,121,678 (GRCm39) |
A57V |
probably damaging |
Het |
| Cpa5 |
A |
G |
6: 30,624,625 (GRCm39) |
E155G |
probably damaging |
Het |
| Ctsq |
T |
C |
13: 61,186,726 (GRCm39) |
I93V |
probably benign |
Het |
| Dbi |
A |
T |
1: 120,048,535 (GRCm39) |
I37K |
probably benign |
Het |
| Defa35 |
T |
C |
8: 21,555,208 (GRCm39) |
S43P |
probably damaging |
Het |
| Fance |
T |
A |
17: 28,534,781 (GRCm39) |
|
probably benign |
Het |
| Fbxl6 |
A |
G |
15: 76,422,129 (GRCm39) |
L180P |
probably damaging |
Het |
| Fkbpl |
T |
C |
17: 34,865,269 (GRCm39) |
F346L |
probably damaging |
Het |
| Gm11735 |
C |
A |
11: 116,632,101 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28042 |
T |
C |
2: 119,866,321 (GRCm39) |
I373T |
possibly damaging |
Het |
| Golga4 |
T |
C |
9: 118,343,254 (GRCm39) |
S27P |
probably damaging |
Het |
| Gstm1 |
C |
T |
3: 107,923,834 (GRCm39) |
|
probably null |
Het |
| Lama3 |
T |
A |
18: 12,682,310 (GRCm39) |
I1092K |
probably benign |
Het |
| Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
| Parp11 |
A |
G |
6: 127,448,568 (GRCm39) |
T62A |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,237,317 (GRCm39) |
L1323S |
probably damaging |
Het |
| Ppp2r1a |
C |
T |
17: 21,176,072 (GRCm39) |
T98I |
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,622,410 (GRCm39) |
Y315F |
probably damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,844,930 (GRCm39) |
H152L |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,455,104 (GRCm39) |
S662P |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Tnfaip3 |
A |
T |
10: 18,887,375 (GRCm39) |
M50K |
probably damaging |
Het |
| Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
| Usp9x |
A |
G |
X: 12,987,687 (GRCm39) |
D638G |
possibly damaging |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,487,141 (GRCm39) |
|
probably null |
Het |
| Zfp532 |
G |
T |
18: 65,789,636 (GRCm39) |
W1025L |
probably benign |
Het |
|
| Other mutations in Nlrp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00561:Nlrp6
|
APN |
7 |
140,503,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01066:Nlrp6
|
APN |
7 |
140,501,709 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01966:Nlrp6
|
APN |
7 |
140,505,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02625:Nlrp6
|
APN |
7 |
140,503,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02792:Nlrp6
|
APN |
7 |
140,502,348 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02813:Nlrp6
|
APN |
7 |
140,503,333 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03140:Nlrp6
|
APN |
7 |
140,507,400 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0608:Nlrp6
|
UTSW |
7 |
140,503,399 (GRCm39) |
nonsense |
probably null |
|
|
R1404:Nlrp6
|
UTSW |
7 |
140,504,026 (GRCm39) |
small deletion |
probably benign |
|
|
R1404:Nlrp6
|
UTSW |
7 |
140,504,026 (GRCm39) |
small deletion |
probably benign |
|
|
R1472:Nlrp6
|
UTSW |
7 |
140,503,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Nlrp6
|
UTSW |
7 |
140,502,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Nlrp6
|
UTSW |
7 |
140,503,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Nlrp6
|
UTSW |
7 |
140,504,026 (GRCm39) |
small deletion |
probably benign |
|
|
R2097:Nlrp6
|
UTSW |
7 |
140,503,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Nlrp6
|
UTSW |
7 |
140,506,357 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2119:Nlrp6
|
UTSW |
7 |
140,506,357 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2120:Nlrp6
|
UTSW |
7 |
140,506,357 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2121:Nlrp6
|
UTSW |
7 |
140,506,357 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2290:Nlrp6
|
UTSW |
7 |
140,502,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3546:Nlrp6
|
UTSW |
7 |
140,506,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3547:Nlrp6
|
UTSW |
7 |
140,506,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3970:Nlrp6
|
UTSW |
7 |
140,501,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4484:Nlrp6
|
UTSW |
7 |
140,501,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Nlrp6
|
UTSW |
7 |
140,504,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Nlrp6
|
UTSW |
7 |
140,503,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5436:Nlrp6
|
UTSW |
7 |
140,502,630 (GRCm39) |
nonsense |
probably null |
|
|
R5442:Nlrp6
|
UTSW |
7 |
140,502,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5924:Nlrp6
|
UTSW |
7 |
140,503,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Nlrp6
|
UTSW |
7 |
140,502,725 (GRCm39) |
nonsense |
probably null |
|
|
R6124:Nlrp6
|
UTSW |
7 |
140,503,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6455:Nlrp6
|
UTSW |
7 |
140,507,422 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6480:Nlrp6
|
UTSW |
7 |
140,507,356 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6873:Nlrp6
|
UTSW |
7 |
140,503,433 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7061:Nlrp6
|
UTSW |
7 |
140,502,780 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7350:Nlrp6
|
UTSW |
7 |
140,501,191 (GRCm39) |
start gained |
probably benign |
|
|
R7532:Nlrp6
|
UTSW |
7 |
140,505,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7752:Nlrp6
|
UTSW |
7 |
140,507,353 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7901:Nlrp6
|
UTSW |
7 |
140,507,353 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8098:Nlrp6
|
UTSW |
7 |
140,503,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8381:Nlrp6
|
UTSW |
7 |
140,503,754 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8513:Nlrp6
|
UTSW |
7 |
140,502,743 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9114:Nlrp6
|
UTSW |
7 |
140,506,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7732:Nlrp6
|
UTSW |
7 |
140,506,561 (GRCm39) |
splice site |
probably benign |
|
|
Z1176:Nlrp6
|
UTSW |
7 |
140,502,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGTCCTATTCAGGTCGC -3'
(R):5'- GTTGATCTTCCCAAGGAGAGCAG -3'
Sequencing Primer
(F):5'- TCAGGTCGCATCAGTGATGATAACC -3'
(R):5'- ATCAAGGGCGAGCCACC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation