Incidental Mutation 'IGL01290:Ripk2'
| ID |
72893 |
| 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 # |
IGL01290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
16122733-16163647 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 16139198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037035]
[ENSMUST00000183871]
|
| AlphaFold |
P58801 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037035
|
| SMART Domains |
Protein: ENSMUSP00000038833
Gene: ENSMUSG00000041135
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139381
Gene: ENSMUSG00000041135
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,331,621 (GRCm39) |
H148R |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,206,232 (GRCm39) |
H177Q |
probably damaging |
Het |
| Adamts18 |
T |
A |
8: 114,501,575 (GRCm39) |
E349D |
probably damaging |
Het |
| Cers5 |
G |
A |
15: 99,637,536 (GRCm39) |
R190* |
probably null |
Het |
| Cntnap2 |
C |
T |
6: 45,992,399 (GRCm39) |
T442I |
probably benign |
Het |
| Col14a1 |
C |
T |
15: 55,286,903 (GRCm39) |
A908V |
unknown |
Het |
| Ctnna2 |
T |
C |
6: 76,859,543 (GRCm39) |
D951G |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,835,599 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,782,998 (GRCm39) |
T106A |
possibly damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,505 (GRCm39) |
V225A |
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,185 (GRCm39) |
N167S |
probably damaging |
Het |
| Gnal |
A |
G |
18: 67,344,169 (GRCm39) |
D181G |
probably damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,727,408 (GRCm39) |
Y174C |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,809,844 (GRCm39) |
D445N |
probably damaging |
Het |
| Hoxb8 |
A |
G |
11: 96,175,093 (GRCm39) |
I176V |
possibly damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,204,137 (GRCm39) |
E285D |
probably benign |
Het |
| Megf8 |
C |
T |
7: 25,049,083 (GRCm39) |
R1727* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,350,180 (GRCm39) |
D611G |
probably damaging |
Het |
| Nudt19 |
A |
G |
7: 35,247,501 (GRCm39) |
S303P |
probably damaging |
Het |
| Rhcg |
A |
G |
7: 79,248,342 (GRCm39) |
F421L |
probably benign |
Het |
| Rnf139 |
A |
G |
15: 58,770,175 (GRCm39) |
I67V |
probably benign |
Het |
| Smarca5 |
A |
G |
8: 81,454,277 (GRCm39) |
S256P |
probably benign |
Het |
| Sun3 |
C |
T |
11: 8,973,341 (GRCm39) |
G119S |
possibly damaging |
Het |
| Tlr12 |
A |
C |
4: 128,511,630 (GRCm39) |
S207A |
probably damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,016,701 (GRCm39) |
|
probably benign |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,487 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ripk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02151:Ripk2
|
APN |
4 |
16,139,240 (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 |
2013-10-07 |
Incidental Mutation