Incidental Mutation 'R3710:Nlrp4c'
ID |
259541 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp4c
|
Ensembl Gene |
ENSMUSG00000034690 |
Gene Name |
NLR family, pyrin domain containing 4C |
Synonyms |
Nalp4c, Nalp-alpha, Rnh2 |
MMRRC Submission |
040703-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R3710 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
6048160-6108148 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6068627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 176
(V176E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037728]
[ENSMUST00000121583]
[ENSMUST00000208360]
|
AlphaFold |
Q3TKR3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037728
AA Change: V176E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000046503 Gene: ENSMUSG00000034690 AA Change: V176E
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
89 |
1.41e-34 |
SMART |
Pfam:NACHT
|
148 |
317 |
4.5e-40 |
PFAM |
LRR
|
689 |
716 |
2.91e0 |
SMART |
LRR
|
718 |
745 |
1.49e1 |
SMART |
LRR
|
746 |
772 |
2.5e1 |
SMART |
LRR
|
774 |
801 |
6.24e1 |
SMART |
LRR
|
802 |
829 |
3.07e-1 |
SMART |
LRR
|
831 |
858 |
4.11e-1 |
SMART |
LRR
|
859 |
886 |
3.31e-6 |
SMART |
LRR
|
888 |
915 |
6.16e0 |
SMART |
LRR
|
916 |
943 |
9.24e1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121583
AA Change: V176E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113824 Gene: ENSMUSG00000034690 AA Change: V176E
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
89 |
1.41e-34 |
SMART |
Pfam:NACHT
|
148 |
317 |
1.7e-39 |
PFAM |
LRR
|
689 |
716 |
2.91e0 |
SMART |
LRR
|
718 |
745 |
1.49e1 |
SMART |
LRR
|
746 |
772 |
2.5e1 |
SMART |
LRR
|
774 |
801 |
6.24e1 |
SMART |
LRR
|
802 |
829 |
3.07e-1 |
SMART |
LRR
|
831 |
858 |
4.11e-1 |
SMART |
LRR
|
859 |
886 |
3.31e-6 |
SMART |
LRR
|
888 |
915 |
6.16e0 |
SMART |
LRR
|
916 |
943 |
9.24e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207267
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208360
AA Change: V176E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
C |
15: 64,597,384 (GRCm39) |
|
probably benign |
Het |
Agbl2 |
G |
A |
2: 90,636,152 (GRCm39) |
D563N |
probably benign |
Het |
Aida |
C |
A |
1: 183,085,610 (GRCm39) |
|
probably null |
Het |
Ank1 |
A |
G |
8: 23,577,095 (GRCm39) |
D200G |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,470,808 (GRCm39) |
|
probably benign |
Het |
Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
Atrnl1 |
C |
A |
19: 57,645,546 (GRCm39) |
H469N |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bud23 |
A |
C |
5: 135,085,204 (GRCm39) |
S41A |
possibly damaging |
Het |
Car12 |
G |
T |
9: 66,658,260 (GRCm39) |
A21S |
probably damaging |
Het |
Cav3 |
T |
A |
6: 112,436,774 (GRCm39) |
M1K |
probably null |
Het |
Cdc42bpa |
A |
G |
1: 179,892,628 (GRCm39) |
D264G |
probably damaging |
Het |
Cic |
A |
G |
7: 24,986,406 (GRCm39) |
D1276G |
probably damaging |
Het |
Col2a1 |
A |
G |
15: 97,888,788 (GRCm39) |
|
probably benign |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Csn3 |
C |
A |
5: 88,077,882 (GRCm39) |
N129K |
possibly damaging |
Het |
Diaph1 |
C |
A |
18: 37,978,537 (GRCm39) |
G1209W |
probably damaging |
Het |
Dsg2 |
A |
G |
18: 20,735,174 (GRCm39) |
T1051A |
probably damaging |
Het |
Gm1965 |
A |
T |
6: 89,122,407 (GRCm39) |
|
noncoding transcript |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Gsto1 |
T |
C |
19: 47,847,971 (GRCm39) |
|
probably null |
Het |
Il15ra |
G |
T |
2: 11,735,458 (GRCm39) |
|
probably null |
Het |
Ipo8 |
A |
T |
6: 148,707,842 (GRCm39) |
|
probably null |
Het |
Lsm14a |
T |
A |
7: 34,053,204 (GRCm39) |
I283F |
probably damaging |
Het |
Mael |
T |
C |
1: 166,066,135 (GRCm39) |
D34G |
probably damaging |
Het |
Marchf6 |
A |
T |
15: 31,509,972 (GRCm39) |
|
probably benign |
Het |
Mtmr10 |
C |
A |
7: 63,976,433 (GRCm39) |
A410D |
possibly damaging |
Het |
Myh9 |
T |
C |
15: 77,657,547 (GRCm39) |
E1066G |
possibly damaging |
Het |
Nim1k |
A |
G |
13: 120,173,635 (GRCm39) |
S420P |
probably benign |
Het |
Ogfod1 |
A |
T |
8: 94,784,380 (GRCm39) |
K313* |
probably null |
Het |
Or5an1 |
T |
G |
19: 12,260,450 (GRCm39) |
F13V |
probably damaging |
Het |
Osbpl10 |
C |
A |
9: 115,036,655 (GRCm39) |
P253Q |
probably benign |
Het |
Otof |
A |
T |
5: 30,542,610 (GRCm39) |
M661K |
probably benign |
Het |
Rbms2 |
C |
T |
10: 127,979,312 (GRCm39) |
R139Q |
probably damaging |
Het |
Rimbp2 |
G |
A |
5: 128,866,795 (GRCm39) |
T508I |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,037,991 (GRCm39) |
C393* |
probably null |
Het |
Rps17 |
T |
A |
7: 80,994,672 (GRCm39) |
T30S |
probably benign |
Het |
Rps3 |
T |
C |
7: 99,128,626 (GRCm39) |
K197R |
probably benign |
Het |
Samd11 |
G |
A |
4: 156,334,952 (GRCm39) |
L109F |
probably damaging |
Het |
Smarca2 |
T |
G |
19: 26,646,290 (GRCm39) |
|
probably benign |
Het |
Sprr2g |
C |
A |
3: 92,282,036 (GRCm39) |
P30Q |
unknown |
Het |
Spz1 |
G |
A |
13: 92,711,631 (GRCm39) |
Q282* |
probably null |
Het |
Syne3 |
A |
G |
12: 104,909,697 (GRCm39) |
L713P |
possibly damaging |
Het |
Tgm1 |
C |
A |
14: 55,950,052 (GRCm39) |
|
probably benign |
Het |
Tomm22 |
T |
C |
15: 79,555,419 (GRCm39) |
F55L |
probably damaging |
Het |
Tph2 |
T |
A |
10: 115,009,963 (GRCm39) |
Y199F |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,682,932 (GRCm39) |
F757L |
probably benign |
Het |
Vmn2r69 |
T |
A |
7: 85,055,601 (GRCm39) |
T846S |
probably benign |
Het |
Was |
G |
T |
X: 7,952,927 (GRCm39) |
S271R |
probably benign |
Het |
Zc3hav1 |
A |
C |
6: 38,309,097 (GRCm39) |
M575R |
probably benign |
Het |
|
Other mutations in Nlrp4c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00727:Nlrp4c
|
APN |
7 |
6,069,701 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01458:Nlrp4c
|
APN |
7 |
6,103,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01464:Nlrp4c
|
APN |
7 |
6,103,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01470:Nlrp4c
|
APN |
7 |
6,103,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01481:Nlrp4c
|
APN |
7 |
6,103,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01531:Nlrp4c
|
APN |
7 |
6,063,655 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01595:Nlrp4c
|
APN |
7 |
6,069,111 (GRCm39) |
nonsense |
probably null |
|
IGL02087:Nlrp4c
|
APN |
7 |
6,095,582 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02226:Nlrp4c
|
APN |
7 |
6,069,828 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02588:Nlrp4c
|
APN |
7 |
6,087,647 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02822:Nlrp4c
|
APN |
7 |
6,068,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02884:Nlrp4c
|
APN |
7 |
6,101,951 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02943:Nlrp4c
|
APN |
7 |
6,068,974 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03017:Nlrp4c
|
APN |
7 |
6,087,679 (GRCm39) |
missense |
probably benign |
0.23 |
R0347:Nlrp4c
|
UTSW |
7 |
6,069,415 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0579:Nlrp4c
|
UTSW |
7 |
6,063,844 (GRCm39) |
missense |
probably benign |
0.05 |
R1051:Nlrp4c
|
UTSW |
7 |
6,068,942 (GRCm39) |
missense |
probably benign |
0.01 |
R1596:Nlrp4c
|
UTSW |
7 |
6,069,777 (GRCm39) |
missense |
probably benign |
|
R1636:Nlrp4c
|
UTSW |
7 |
6,069,737 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1739:Nlrp4c
|
UTSW |
7 |
6,076,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R1766:Nlrp4c
|
UTSW |
7 |
6,076,113 (GRCm39) |
missense |
probably benign |
0.00 |
R1824:Nlrp4c
|
UTSW |
7 |
6,069,955 (GRCm39) |
splice site |
probably null |
|
R1827:Nlrp4c
|
UTSW |
7 |
6,068,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R1858:Nlrp4c
|
UTSW |
7 |
6,087,655 (GRCm39) |
missense |
probably benign |
0.02 |
R1902:Nlrp4c
|
UTSW |
7 |
6,068,818 (GRCm39) |
missense |
probably damaging |
0.98 |
R2217:Nlrp4c
|
UTSW |
7 |
6,076,113 (GRCm39) |
missense |
probably benign |
|
R2415:Nlrp4c
|
UTSW |
7 |
6,069,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R3004:Nlrp4c
|
UTSW |
7 |
6,068,524 (GRCm39) |
missense |
probably benign |
0.28 |
R3005:Nlrp4c
|
UTSW |
7 |
6,068,524 (GRCm39) |
missense |
probably benign |
0.28 |
R3410:Nlrp4c
|
UTSW |
7 |
6,095,569 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3411:Nlrp4c
|
UTSW |
7 |
6,095,569 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4072:Nlrp4c
|
UTSW |
7 |
6,075,709 (GRCm39) |
missense |
probably benign |
0.00 |
R4073:Nlrp4c
|
UTSW |
7 |
6,075,709 (GRCm39) |
missense |
probably benign |
0.00 |
R4075:Nlrp4c
|
UTSW |
7 |
6,075,709 (GRCm39) |
missense |
probably benign |
0.00 |
R4076:Nlrp4c
|
UTSW |
7 |
6,075,709 (GRCm39) |
missense |
probably benign |
0.00 |
R4542:Nlrp4c
|
UTSW |
7 |
6,103,826 (GRCm39) |
nonsense |
probably null |
|
R4709:Nlrp4c
|
UTSW |
7 |
6,068,424 (GRCm39) |
missense |
probably benign |
0.31 |
R4776:Nlrp4c
|
UTSW |
7 |
6,069,125 (GRCm39) |
missense |
probably benign |
0.41 |
R5043:Nlrp4c
|
UTSW |
7 |
6,069,824 (GRCm39) |
missense |
probably benign |
0.01 |
R5258:Nlrp4c
|
UTSW |
7 |
6,069,622 (GRCm39) |
missense |
probably benign |
0.06 |
R6164:Nlrp4c
|
UTSW |
7 |
6,095,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R6383:Nlrp4c
|
UTSW |
7 |
6,069,052 (GRCm39) |
missense |
probably benign |
|
R6650:Nlrp4c
|
UTSW |
7 |
6,068,948 (GRCm39) |
missense |
probably damaging |
0.99 |
R6810:Nlrp4c
|
UTSW |
7 |
6,069,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R7095:Nlrp4c
|
UTSW |
7 |
6,063,792 (GRCm39) |
missense |
probably damaging |
0.97 |
R7102:Nlrp4c
|
UTSW |
7 |
6,068,708 (GRCm39) |
nonsense |
probably null |
|
R7104:Nlrp4c
|
UTSW |
7 |
6,068,708 (GRCm39) |
nonsense |
probably null |
|
R7232:Nlrp4c
|
UTSW |
7 |
6,068,708 (GRCm39) |
nonsense |
probably null |
|
R7444:Nlrp4c
|
UTSW |
7 |
6,095,595 (GRCm39) |
nonsense |
probably null |
|
R7705:Nlrp4c
|
UTSW |
7 |
6,075,635 (GRCm39) |
missense |
probably damaging |
0.97 |
R7966:Nlrp4c
|
UTSW |
7 |
6,069,322 (GRCm39) |
missense |
probably damaging |
0.99 |
R8506:Nlrp4c
|
UTSW |
7 |
6,103,775 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8677:Nlrp4c
|
UTSW |
7 |
6,075,644 (GRCm39) |
missense |
probably damaging |
0.99 |
R8708:Nlrp4c
|
UTSW |
7 |
6,068,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R8838:Nlrp4c
|
UTSW |
7 |
6,069,337 (GRCm39) |
missense |
|
|
R9031:Nlrp4c
|
UTSW |
7 |
6,107,608 (GRCm39) |
makesense |
probably null |
|
R9193:Nlrp4c
|
UTSW |
7 |
6,095,621 (GRCm39) |
missense |
probably benign |
|
R9329:Nlrp4c
|
UTSW |
7 |
6,068,498 (GRCm39) |
missense |
probably benign |
|
R9388:Nlrp4c
|
UTSW |
7 |
6,069,874 (GRCm39) |
nonsense |
probably null |
|
R9474:Nlrp4c
|
UTSW |
7 |
6,068,626 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9567:Nlrp4c
|
UTSW |
7 |
6,063,624 (GRCm39) |
missense |
probably benign |
0.17 |
R9702:Nlrp4c
|
UTSW |
7 |
6,068,801 (GRCm39) |
missense |
probably benign |
0.00 |
X0060:Nlrp4c
|
UTSW |
7 |
6,068,917 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Nlrp4c
|
UTSW |
7 |
6,069,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGAAGAAGAAGCTGACCCATG -3'
(R):5'- CCATCACTTCCAAGTTGTCGATG -3'
Sequencing Primer
(F):5'- GCTGACCCATGATTATGCCAG -3'
(R):5'- CGATGACAAATAAGAGTTTCTCCGG -3'
|
Posted On |
2015-01-23 |