Incidental Mutation 'R5770:Nlrp4b'
| ID |
446486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4b
|
| Ensembl Gene |
ENSMUSG00000034087 |
| Gene Name |
NLR family, pyrin domain containing 4B |
| Synonyms |
Nalp4b, Nalp-gamma |
| MMRRC Submission |
043370-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5770 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
10421720-10464095 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10449414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 172
(V172E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047809]
[ENSMUST00000117413]
[ENSMUST00000132990]
[ENSMUST00000211069]
|
| AlphaFold |
Q8C6J9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047809
AA Change: V539E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: V539E
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
1.4e-20 |
SMART |
|
Pfam:NACHT
|
143 |
312 |
7.9e-40 |
PFAM |
|
low complexity region
|
520 |
535 |
N/A |
INTRINSIC |
|
LRR
|
683 |
710 |
4.9e0 |
SMART |
|
LRR
|
712 |
739 |
1.97e0 |
SMART |
|
LRR
|
740 |
767 |
1.13e-4 |
SMART |
|
LRR
|
769 |
796 |
1.93e1 |
SMART |
|
LRR
|
797 |
824 |
1.73e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117413
AA Change: V539E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: V539E
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
1.4e-20 |
SMART |
|
Pfam:NACHT
|
143 |
312 |
3.3e-39 |
PFAM |
|
low complexity region
|
520 |
535 |
N/A |
INTRINSIC |
|
LRR
|
683 |
710 |
4.9e0 |
SMART |
|
LRR
|
712 |
739 |
1.97e0 |
SMART |
|
LRR
|
740 |
767 |
1.13e-4 |
SMART |
|
LRR
|
769 |
796 |
1.93e1 |
SMART |
|
LRR
|
797 |
824 |
1.73e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132990
AA Change: V172E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087
AA Change: V172E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
LRR
|
316 |
343 |
4.9e0 |
SMART |
|
LRR
|
345 |
372 |
1.97e0 |
SMART |
|
LRR
|
373 |
400 |
1.13e-4 |
SMART |
|
LRR
|
402 |
429 |
1.93e1 |
SMART |
|
LRR
|
430 |
457 |
1.73e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211069
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211772
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
93% (64/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030C10Rik |
T |
C |
12: 20,865,460 (GRCm39) |
|
noncoding transcript |
Het |
| Abhd8 |
A |
G |
8: 71,909,972 (GRCm39) |
V392A |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,728,310 (GRCm39) |
E480G |
probably benign |
Het |
| Ankfy1 |
C |
G |
11: 72,651,082 (GRCm39) |
H1011D |
probably damaging |
Het |
| Aoc3 |
T |
G |
11: 101,222,578 (GRCm39) |
Y271* |
probably null |
Het |
| Bcl9 |
T |
C |
3: 97,122,491 (GRCm39) |
I103V |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,552,769 (GRCm39) |
|
probably null |
Het |
| Cyp2c23 |
T |
A |
19: 44,010,018 (GRCm39) |
D109V |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,965,669 (GRCm39) |
W13R |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,037,500 (GRCm39) |
|
probably benign |
Het |
| Desi2 |
A |
T |
1: 178,084,061 (GRCm39) |
|
probably benign |
Het |
| Dll3 |
T |
C |
7: 27,998,434 (GRCm39) |
E177G |
possibly damaging |
Het |
| Ern2 |
C |
T |
7: 121,779,130 (GRCm39) |
G238D |
possibly damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm6133 |
A |
G |
18: 78,393,464 (GRCm39) |
K153E |
probably benign |
Het |
| Gpr68 |
A |
T |
12: 100,845,080 (GRCm39) |
Y155N |
probably benign |
Het |
| Hcrtr2 |
T |
A |
9: 76,166,948 (GRCm39) |
I130F |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,122,228 (GRCm39) |
K489R |
probably benign |
Het |
| Ints13 |
T |
C |
6: 146,456,571 (GRCm39) |
N425S |
probably damaging |
Het |
| Itpkc |
T |
C |
7: 26,912,413 (GRCm39) |
D578G |
probably damaging |
Het |
| Kcns3 |
A |
G |
12: 11,142,250 (GRCm39) |
S150P |
probably benign |
Het |
| Khdrbs3 |
T |
A |
15: 68,921,312 (GRCm39) |
|
probably null |
Het |
| Kif11 |
A |
G |
19: 37,379,313 (GRCm39) |
I335V |
probably benign |
Het |
| Lrrn4 |
C |
G |
2: 132,714,076 (GRCm39) |
C290S |
probably damaging |
Het |
| Macrod2 |
T |
C |
2: 141,074,102 (GRCm39) |
|
probably benign |
Het |
| Mgam |
A |
G |
6: 40,646,738 (GRCm39) |
N688S |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,188,026 (GRCm39) |
E933K |
probably damaging |
Het |
| Nat8f5 |
T |
C |
6: 85,794,657 (GRCm39) |
Y101C |
probably damaging |
Het |
| Nhlrc1 |
A |
G |
13: 47,168,188 (GRCm39) |
V23A |
probably benign |
Het |
| Nkx2-3 |
T |
A |
19: 43,602,972 (GRCm39) |
F193I |
probably damaging |
Het |
| Nmrk1 |
G |
T |
19: 18,622,438 (GRCm39) |
R172S |
probably benign |
Het |
| Nudcd3 |
T |
C |
11: 6,063,286 (GRCm39) |
D201G |
probably damaging |
Het |
| Oprm1 |
G |
A |
10: 6,739,026 (GRCm39) |
G51D |
probably damaging |
Het |
| Or10g9b |
C |
T |
9: 39,917,634 (GRCm39) |
V204I |
probably benign |
Het |
| Or13a18 |
A |
G |
7: 140,190,856 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or2t44 |
G |
A |
11: 58,677,420 (GRCm39) |
R120H |
probably benign |
Het |
| Or2y14 |
A |
G |
11: 49,405,419 (GRCm39) |
E318G |
unknown |
Het |
| Or4c12b |
T |
A |
2: 89,646,893 (GRCm39) |
D68E |
probably damaging |
Het |
| Or56a3 |
A |
T |
7: 104,740,102 (GRCm39) |
I248N |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,514 (GRCm39) |
Y119* |
probably null |
Het |
| Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
| Pcdh9 |
G |
A |
14: 94,124,379 (GRCm39) |
T597I |
probably damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,090 (GRCm39) |
N295S |
possibly damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,731,607 (GRCm39) |
|
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,186,146 (GRCm39) |
I1215N |
probably damaging |
Het |
| Phf21a |
C |
T |
2: 92,182,199 (GRCm39) |
T405I |
possibly damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,781,757 (GRCm39) |
G763W |
probably damaging |
Het |
| Prox2 |
A |
G |
12: 85,134,154 (GRCm39) |
F591L |
probably benign |
Het |
| Robo3 |
T |
A |
9: 37,330,497 (GRCm39) |
H1033L |
possibly damaging |
Het |
| Sdha |
A |
T |
13: 74,471,239 (GRCm39) |
C222* |
probably null |
Het |
| Sec16a |
T |
C |
2: 26,304,402 (GRCm39) |
D2303G |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,092,466 (GRCm39) |
I238M |
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,363,604 (GRCm39) |
K422E |
possibly damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,363,891 (GRCm39) |
M232K |
probably damaging |
Het |
| Slc35b3 |
A |
T |
13: 39,121,734 (GRCm39) |
F300I |
probably damaging |
Het |
| Spata2l |
A |
G |
8: 123,962,459 (GRCm39) |
V34A |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,256,885 (GRCm39) |
Q1597L |
possibly damaging |
Het |
| Tgfb1i1 |
A |
T |
7: 127,847,719 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,807 (GRCm39) |
T234A |
probably benign |
Het |
| Usp20 |
A |
G |
2: 30,907,520 (GRCm39) |
Y684C |
probably damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,163,536 (GRCm39) |
M585K |
unknown |
Het |
| Zfp292 |
A |
G |
4: 34,806,747 (GRCm39) |
I2099T |
probably damaging |
Het |
|
| Other mutations in Nlrp4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Nlrp4b
|
APN |
7 |
10,448,882 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01456:Nlrp4b
|
APN |
7 |
10,448,150 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01537:Nlrp4b
|
APN |
7 |
10,448,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02539:Nlrp4b
|
APN |
7 |
10,448,355 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02730:Nlrp4b
|
APN |
7 |
10,448,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02871:Nlrp4b
|
APN |
7 |
10,449,192 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03008:Nlrp4b
|
APN |
7 |
10,448,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03109:Nlrp4b
|
APN |
7 |
10,448,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03251:Nlrp4b
|
APN |
7 |
10,448,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03354:Nlrp4b
|
APN |
7 |
10,448,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0052:Nlrp4b
|
UTSW |
7 |
10,459,889 (GRCm39) |
nonsense |
probably null |
|
|
R0348:Nlrp4b
|
UTSW |
7 |
10,449,108 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0564:Nlrp4b
|
UTSW |
7 |
10,448,585 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0573:Nlrp4b
|
UTSW |
7 |
10,448,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0581:Nlrp4b
|
UTSW |
7 |
10,448,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1201:Nlrp4b
|
UTSW |
7 |
10,449,363 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1541:Nlrp4b
|
UTSW |
7 |
10,458,979 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1771:Nlrp4b
|
UTSW |
7 |
10,452,520 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1781:Nlrp4b
|
UTSW |
7 |
10,449,266 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1833:Nlrp4b
|
UTSW |
7 |
10,459,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2405:Nlrp4b
|
UTSW |
7 |
10,448,655 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2871:Nlrp4b
|
UTSW |
7 |
10,444,170 (GRCm39) |
nonsense |
probably null |
|
|
R2871:Nlrp4b
|
UTSW |
7 |
10,444,170 (GRCm39) |
nonsense |
probably null |
|
|
R2873:Nlrp4b
|
UTSW |
7 |
10,444,170 (GRCm39) |
nonsense |
probably null |
|
|
R2904:Nlrp4b
|
UTSW |
7 |
10,448,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Nlrp4b
|
UTSW |
7 |
10,449,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3714:Nlrp4b
|
UTSW |
7 |
10,448,808 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3982:Nlrp4b
|
UTSW |
7 |
10,448,358 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4668:Nlrp4b
|
UTSW |
7 |
10,448,660 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4690:Nlrp4b
|
UTSW |
7 |
10,453,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4857:Nlrp4b
|
UTSW |
7 |
10,449,225 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5247:Nlrp4b
|
UTSW |
7 |
10,448,145 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5381:Nlrp4b
|
UTSW |
7 |
10,449,172 (GRCm39) |
nonsense |
probably null |
|
|
R5529:Nlrp4b
|
UTSW |
7 |
10,448,873 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5589:Nlrp4b
|
UTSW |
7 |
10,449,512 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5990:Nlrp4b
|
UTSW |
7 |
10,448,418 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6049:Nlrp4b
|
UTSW |
7 |
10,448,640 (GRCm39) |
nonsense |
probably null |
|
|
R6329:Nlrp4b
|
UTSW |
7 |
10,458,847 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6377:Nlrp4b
|
UTSW |
7 |
10,449,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7107:Nlrp4b
|
UTSW |
7 |
10,449,144 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7209:Nlrp4b
|
UTSW |
7 |
10,444,297 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7237:Nlrp4b
|
UTSW |
7 |
10,449,143 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7537:Nlrp4b
|
UTSW |
7 |
10,448,816 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7793:Nlrp4b
|
UTSW |
7 |
10,459,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8138:Nlrp4b
|
UTSW |
7 |
10,449,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8190:Nlrp4b
|
UTSW |
7 |
10,448,319 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8326:Nlrp4b
|
UTSW |
7 |
10,452,471 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8353:Nlrp4b
|
UTSW |
7 |
10,449,528 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8417:Nlrp4b
|
UTSW |
7 |
10,459,880 (GRCm39) |
nonsense |
probably null |
|
|
R8453:Nlrp4b
|
UTSW |
7 |
10,449,528 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8998:Nlrp4b
|
UTSW |
7 |
10,449,629 (GRCm39) |
missense |
probably null |
0.00 |
|
R9002:Nlrp4b
|
UTSW |
7 |
10,448,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Nlrp4b
|
UTSW |
7 |
10,459,870 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9073:Nlrp4b
|
UTSW |
7 |
10,459,870 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9258:Nlrp4b
|
UTSW |
7 |
10,444,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9373:Nlrp4b
|
UTSW |
7 |
10,449,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9525:Nlrp4b
|
UTSW |
7 |
10,448,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9604:Nlrp4b
|
UTSW |
7 |
10,444,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9670:Nlrp4b
|
UTSW |
7 |
10,448,651 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9679:Nlrp4b
|
UTSW |
7 |
10,449,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0063:Nlrp4b
|
UTSW |
7 |
10,463,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGGATCACTCTTGTCAGGG -3'
(R):5'- AGAAGTCTGTCAGTGCAGAGC -3'
Sequencing Primer
(F):5'- TGTCAGGGTGTTTACTTTATAGAAAC -3'
(R):5'- CCATGGCTTAAGCAGTAGGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation