Incidental Mutation 'IGL02151:Ripk2'
| ID |
281998 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ripk2
|
| Ensembl Gene |
ENSMUSG00000041135 |
| Gene Name |
receptor (TNFRSF)-interacting serine-threonine kinase 2 |
| Synonyms |
2210420D18Rik, D4Bwg0615e, CARDIAK, RICK, CCK, CARD3, RIP2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.301)
|
| Stock # |
IGL02151
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
16122733-16163647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16139240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 219
(M219K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037035]
[ENSMUST00000183871]
|
| AlphaFold |
P58801 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037035
AA Change: M219K
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038833
Gene: ENSMUSG00000041135
AA Change: M219K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
18 |
289 |
2.1e-43 |
PFAM |
|
Pfam:Pkinase_Tyr
|
18 |
290 |
1.1e-45 |
PFAM |
|
CARD
|
434 |
522 |
2.34e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183871
AA Change: M219K
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000139381
Gene: ENSMUSG00000041135
AA Change: M219K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
18 |
290 |
5.6e-46 |
PFAM |
|
Pfam:Pkinase_Tyr
|
18 |
290 |
1.2e-44 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the receptor-interacting protein family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain, and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of nuclear factor kappa B and inducer of apoptosis in response to various stimuli. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to impaired cytokine production in response to LPS treatment, and may result in resistance to LPS-induced septic shock and defects in Toll-like receptor and T-cell receptor signaling. Macrophages homozygous for a knock-in allele show normal LPS signaling. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted(5) Gene trapped(2)
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
G |
T |
5: 50,136,484 (GRCm39) |
T667N |
probably benign |
Het |
| Aff4 |
T |
C |
11: 53,290,633 (GRCm39) |
I531T |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,082,728 (GRCm39) |
Q1951* |
probably null |
Het |
| Arhgef10 |
C |
T |
8: 14,978,889 (GRCm39) |
T52M |
possibly damaging |
Het |
| Atg2a |
A |
G |
19: 6,305,787 (GRCm39) |
E1132G |
possibly damaging |
Het |
| AW551984 |
A |
C |
9: 39,504,241 (GRCm39) |
I575S |
probably benign |
Het |
| Cfap299 |
C |
T |
5: 98,477,301 (GRCm39) |
T24M |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,543,031 (GRCm39) |
E460G |
probably damaging |
Het |
| Ctse |
A |
G |
1: 131,600,273 (GRCm39) |
I341V |
probably benign |
Het |
| Dcpp1 |
A |
T |
17: 24,101,568 (GRCm39) |
I106L |
possibly damaging |
Het |
| Dcxr |
T |
A |
11: 120,616,809 (GRCm39) |
M158L |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,023,623 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,512,023 (GRCm39) |
I3013F |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,867,391 (GRCm39) |
D281G |
possibly damaging |
Het |
| Dpysl3 |
G |
A |
18: 43,491,365 (GRCm39) |
H136Y |
probably damaging |
Het |
| Eaf1 |
C |
T |
14: 31,219,744 (GRCm39) |
T61M |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,083,598 (GRCm39) |
T441A |
probably benign |
Het |
| Hmgcll1 |
C |
T |
9: 75,988,720 (GRCm39) |
P197L |
probably benign |
Het |
| Kdm4b |
T |
C |
17: 56,703,234 (GRCm39) |
V643A |
probably benign |
Het |
| Lrch2 |
A |
G |
X: 146,336,716 (GRCm39) |
F111L |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,265,559 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b2 |
T |
C |
10: 39,797,687 (GRCm39) |
N223D |
probably damaging |
Het |
| Mug1 |
G |
A |
6: 121,861,649 (GRCm39) |
|
probably null |
Het |
| Nek7 |
A |
T |
1: 138,414,838 (GRCm39) |
L270Q |
probably damaging |
Het |
| Nexn |
T |
A |
3: 151,953,881 (GRCm39) |
D127V |
probably damaging |
Het |
| Nxf3 |
A |
G |
X: 134,980,322 (GRCm39) |
F130S |
probably damaging |
Het |
| Or11a4 |
T |
A |
17: 37,536,057 (GRCm39) |
F14I |
probably damaging |
Het |
| Or52ac1 |
A |
G |
7: 104,245,741 (GRCm39) |
S216P |
probably damaging |
Het |
| Pcdhb16 |
G |
A |
18: 37,611,411 (GRCm39) |
V124I |
possibly damaging |
Het |
| Podxl |
T |
C |
6: 31,501,394 (GRCm39) |
D387G |
possibly damaging |
Het |
| Prp2rt |
T |
A |
13: 97,235,682 (GRCm39) |
T22S |
probably null |
Het |
| Rab3d |
C |
A |
9: 21,827,020 (GRCm39) |
R70M |
probably damaging |
Het |
| Rnf146 |
A |
G |
10: 29,223,349 (GRCm39) |
V179A |
probably damaging |
Het |
| Robo1 |
G |
T |
16: 72,786,504 (GRCm39) |
V839L |
probably benign |
Het |
| Rttn |
T |
A |
18: 89,038,329 (GRCm39) |
N808K |
probably damaging |
Het |
| Slc12a3 |
T |
G |
8: 95,075,220 (GRCm39) |
V738G |
probably benign |
Het |
| Slc26a3 |
T |
C |
12: 31,497,830 (GRCm39) |
V78A |
probably damaging |
Het |
| Slc26a9 |
G |
A |
1: 131,691,781 (GRCm39) |
V675M |
probably damaging |
Het |
| Sncb |
T |
A |
13: 54,910,509 (GRCm39) |
I76F |
probably benign |
Het |
| Stat4 |
G |
A |
1: 52,053,029 (GRCm39) |
R70H |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,434,474 (GRCm39) |
M42V |
probably benign |
Het |
| Tmem67 |
T |
C |
4: 12,068,882 (GRCm39) |
T439A |
probably benign |
Het |
| Ugt2b35 |
C |
A |
5: 87,151,141 (GRCm39) |
T249K |
possibly damaging |
Het |
| Vmn1r231 |
C |
T |
17: 21,109,997 (GRCm39) |
R306K |
probably benign |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,023 (GRCm39) |
I182N |
possibly damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,520,515 (GRCm39) |
S546P |
probably damaging |
Het |
| Zic3 |
G |
T |
X: 57,076,899 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ripk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01290:Ripk2
|
APN |
4 |
16,139,198 (GRCm39) |
splice site |
probably benign |
|
|
IGL01346:Ripk2
|
APN |
4 |
16,132,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01631:Ripk2
|
APN |
4 |
16,163,342 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03093:Ripk2
|
APN |
4 |
16,152,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Ripk2
|
UTSW |
4 |
16,123,868 (GRCm39) |
nonsense |
probably null |
|
|
R0066:Ripk2
|
UTSW |
4 |
16,123,868 (GRCm39) |
nonsense |
probably null |
|
|
R0189:Ripk2
|
UTSW |
4 |
16,129,125 (GRCm39) |
splice site |
probably null |
|
|
R1454:Ripk2
|
UTSW |
4 |
16,163,239 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1715:Ripk2
|
UTSW |
4 |
16,155,192 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2153:Ripk2
|
UTSW |
4 |
16,132,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2266:Ripk2
|
UTSW |
4 |
16,152,011 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2394:Ripk2
|
UTSW |
4 |
16,132,774 (GRCm39) |
splice site |
probably benign |
|
|
R3693:Ripk2
|
UTSW |
4 |
16,127,695 (GRCm39) |
missense |
probably benign |
|
|
R4412:Ripk2
|
UTSW |
4 |
16,124,511 (GRCm39) |
missense |
probably benign |
|
|
R4463:Ripk2
|
UTSW |
4 |
16,151,968 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4843:Ripk2
|
UTSW |
4 |
16,155,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5085:Ripk2
|
UTSW |
4 |
16,127,663 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5453:Ripk2
|
UTSW |
4 |
16,151,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Ripk2
|
UTSW |
4 |
16,163,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6576:Ripk2
|
UTSW |
4 |
16,131,558 (GRCm39) |
splice site |
probably null |
|
|
R6967:Ripk2
|
UTSW |
4 |
16,158,275 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7351:Ripk2
|
UTSW |
4 |
16,155,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7479:Ripk2
|
UTSW |
4 |
16,155,154 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7718:Ripk2
|
UTSW |
4 |
16,151,968 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8188:Ripk2
|
UTSW |
4 |
16,139,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8242:Ripk2
|
UTSW |
4 |
16,124,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8509:Ripk2
|
UTSW |
4 |
16,124,436 (GRCm39) |
missense |
probably benign |
|
|
R8700:Ripk2
|
UTSW |
4 |
16,158,422 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8987:Ripk2
|
UTSW |
4 |
16,123,699 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9084:Ripk2
|
UTSW |
4 |
16,123,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9202:Ripk2
|
UTSW |
4 |
16,124,502 (GRCm39) |
missense |
probably benign |
|
|
R9369:Ripk2
|
UTSW |
4 |
16,127,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9469:Ripk2
|
UTSW |
4 |
16,138,181 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1176:Ripk2
|
UTSW |
4 |
16,151,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ripk2
|
UTSW |
4 |
16,163,331 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Posted On |
2015-04-16 |
Incidental Mutation