Incidental Mutation 'R8506:Nlrp4c'
| ID |
655570 |
| 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 |
067842-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8506 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
6048160-6108148 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 6103775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 903
(G903V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037728]
[ENSMUST00000121583]
[ENSMUST00000208360]
|
| AlphaFold |
Q3TKR3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037728
AA Change: G903V
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: G903V
| 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 |
possibly damaging
Transcript: ENSMUST00000121583
AA Change: G903V
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: G903V
| 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 |
possibly damaging
Transcript: ENSMUST00000208360
AA Change: G903V
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
T |
9: 101,820,171 (GRCm39) |
E197V |
possibly damaging |
Het |
| Alkbh8 |
C |
T |
9: 3,335,616 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,586,851 (GRCm39) |
A498T |
probably damaging |
Het |
| Antxr1 |
T |
A |
6: 87,165,155 (GRCm39) |
E427D |
possibly damaging |
Het |
| App |
A |
C |
16: 84,879,704 (GRCm39) |
V143G |
unknown |
Het |
| Bod1l |
C |
A |
5: 41,976,398 (GRCm39) |
E1639* |
probably null |
Het |
| C2cd2 |
T |
C |
16: 97,676,621 (GRCm39) |
D122G |
|
Het |
| Ccdc88b |
G |
T |
19: 6,824,690 (GRCm39) |
P1357T |
probably damaging |
Het |
| Ccnyl1 |
A |
G |
1: 64,753,821 (GRCm39) |
T211A |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,720,820 (GRCm39) |
Y434H |
probably damaging |
Het |
| Ceacam16 |
C |
A |
7: 19,586,195 (GRCm39) |
A106S |
unknown |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chpf2 |
T |
C |
5: 24,793,295 (GRCm39) |
L87P |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,481,944 (GRCm39) |
I60N |
unknown |
Het |
| Cux1 |
T |
A |
5: 136,337,358 (GRCm39) |
E718V |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,208,481 (GRCm39) |
I1845L |
probably benign |
Het |
| Disp3 |
C |
T |
4: 148,326,027 (GRCm39) |
V1244I |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,940,108 (GRCm39) |
S1685P |
probably benign |
Het |
| Etnppl |
G |
A |
3: 130,423,122 (GRCm39) |
V274I |
possibly damaging |
Het |
| Evc2 |
T |
C |
5: 37,540,486 (GRCm39) |
S561P |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,940,623 (GRCm39) |
E759G |
probably damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,103,157 (GRCm39) |
F372S |
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,173,806 (GRCm39) |
T868A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,380,863 (GRCm39) |
D3580G |
possibly damaging |
Het |
| Hmbs |
A |
G |
9: 44,252,921 (GRCm39) |
|
probably null |
Het |
| Ibsp |
A |
T |
5: 104,457,947 (GRCm39) |
E161D |
probably damaging |
Het |
| Ighv8-4 |
A |
G |
12: 114,987,728 (GRCm39) |
V90A |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,319,914 (GRCm39) |
|
probably null |
Het |
| Kcnc2 |
T |
A |
10: 112,291,537 (GRCm39) |
F242I |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,628 (GRCm39) |
I229T |
probably damaging |
Het |
| Lamb1 |
A |
T |
12: 31,379,360 (GRCm39) |
L1791F |
probably damaging |
Het |
| Med6 |
A |
T |
12: 81,641,734 (GRCm39) |
M1K |
probably null |
Het |
| Mei4 |
A |
G |
9: 81,861,291 (GRCm39) |
D294G |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,562,582 (GRCm39) |
I585V |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,650,759 (GRCm39) |
V432A |
probably damaging |
Het |
| Nrf1 |
G |
A |
6: 30,126,256 (GRCm39) |
A416T |
probably benign |
Het |
| Nsl1 |
G |
C |
1: 190,808,832 (GRCm39) |
C173S |
unknown |
Het |
| Obsl1 |
G |
A |
1: 75,482,300 (GRCm39) |
A190V |
probably benign |
Het |
| Or13a22 |
G |
A |
7: 140,073,336 (GRCm39) |
V262I |
probably benign |
Het |
| Or51f1d |
T |
A |
7: 102,700,709 (GRCm39) |
M68K |
probably damaging |
Het |
| Or5b3 |
A |
G |
19: 13,388,604 (GRCm39) |
T224A |
possibly damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,181 (GRCm39) |
I221F |
probably damaging |
Het |
| Or8k3 |
A |
G |
2: 86,058,922 (GRCm39) |
L131P |
possibly damaging |
Het |
| Or8k38 |
T |
C |
2: 86,488,745 (GRCm39) |
D19G |
probably benign |
Het |
| Osbpl1a |
G |
A |
18: 12,901,643 (GRCm39) |
T621I |
probably benign |
Het |
| Pabpc4l |
G |
A |
3: 46,400,832 (GRCm39) |
R271* |
probably null |
Het |
| Paics |
A |
T |
5: 77,112,437 (GRCm39) |
D307V |
possibly damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,871,737 (GRCm39) |
D522G |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,590,759 (GRCm39) |
C1020S |
unknown |
Het |
| Pfkfb4 |
T |
G |
9: 108,834,667 (GRCm39) |
D113E |
possibly damaging |
Het |
| Plod3 |
A |
G |
5: 137,017,830 (GRCm39) |
Y202C |
probably damaging |
Het |
| Pmp22 |
T |
A |
11: 63,049,090 (GRCm39) |
M111K |
probably damaging |
Het |
| Pole2 |
A |
C |
12: 69,255,734 (GRCm39) |
S344A |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,789 (GRCm39) |
T687A |
probably benign |
Het |
| Psmd6 |
A |
G |
14: 14,114,181 (GRCm38) |
S313P |
probably damaging |
Het |
| Rd3 |
T |
G |
1: 191,715,228 (GRCm39) |
M1R |
probably null |
Het |
| Rtn4ip1 |
G |
A |
10: 43,804,352 (GRCm39) |
V235I |
probably benign |
Het |
| Senp5 |
T |
C |
16: 31,787,719 (GRCm39) |
I635V |
probably damaging |
Het |
| Stox2 |
T |
C |
8: 47,645,108 (GRCm39) |
E784G |
possibly damaging |
Het |
| Syce2 |
A |
T |
8: 85,613,795 (GRCm39) |
D168V |
probably benign |
Het |
| Taar6 |
A |
G |
10: 23,861,529 (GRCm39) |
S6P |
probably benign |
Het |
| Tbc1d16 |
A |
C |
11: 119,039,784 (GRCm39) |
H675Q |
probably damaging |
Het |
| Tmem151b |
A |
T |
17: 45,856,327 (GRCm39) |
I371N |
probably damaging |
Het |
| Trim31 |
A |
T |
17: 37,218,150 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
G |
4: 137,338,029 (GRCm39) |
Y268C |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,270 (GRCm39) |
S17P |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,804,627 (GRCm39) |
N98Y |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,446,891 (GRCm39) |
D515E |
probably benign |
Het |
| Yeats2 |
T |
G |
16: 19,971,684 (GRCm39) |
I42M |
probably damaging |
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 |
|
R3710:Nlrp4c
|
UTSW |
7 |
6,068,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CAGCAGGCCATTTGTGGAAC -3'
(R):5'- TACGGACTTTTCCCACCAAAGAG -3'
Sequencing Primer
(F):5'- CAGCAGGCCATTTGTGGAACTATTAG -3'
(R):5'- TTTTCCCACCAAAGAGAATAGAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation