Incidental Mutation 'IGL01346:Ripk2'
| ID |
75071 |
| 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: 0.306)
|
| Stock # |
IGL01346
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
16122733-16163647 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 16132775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037035]
[ENSMUST00000183871]
|
| AlphaFold |
P58801 |
| Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000175054
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3300002I08Rik |
A |
G |
2: 150,152,980 (GRCm39) |
V135A |
unknown |
Het |
| Cnot4 |
A |
T |
6: 35,047,183 (GRCm39) |
I143N |
probably damaging |
Het |
| Cnot6l |
A |
T |
5: 96,234,105 (GRCm39) |
M302K |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,322,759 (GRCm39) |
T1542A |
probably damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,633,766 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,363,116 (GRCm39) |
S3893P |
probably benign |
Het |
| Duox2 |
A |
T |
2: 122,117,683 (GRCm39) |
|
probably benign |
Het |
| Dusp1 |
T |
C |
17: 26,725,295 (GRCm39) |
N355D |
probably benign |
Het |
| Fam76b |
T |
C |
9: 13,741,046 (GRCm39) |
C60R |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,272,041 (GRCm39) |
V944I |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,091,961 (GRCm39) |
Y249C |
probably damaging |
Het |
| Ift88 |
A |
T |
14: 57,681,862 (GRCm39) |
E215D |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,424,551 (GRCm39) |
|
probably benign |
Het |
| Lmln |
C |
A |
16: 32,937,490 (GRCm39) |
N618K |
probably benign |
Het |
| Lrrc75a |
T |
C |
11: 62,496,813 (GRCm39) |
T250A |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,164,719 (GRCm39) |
S435P |
probably damaging |
Het |
| Myo1c |
T |
A |
11: 75,563,076 (GRCm39) |
V1036E |
probably damaging |
Het |
| Nlrp12 |
T |
G |
7: 3,289,316 (GRCm39) |
T399P |
probably damaging |
Het |
| Or2y16 |
A |
G |
11: 49,335,595 (GRCm39) |
R306G |
probably benign |
Het |
| Or4c118 |
A |
G |
2: 88,974,575 (GRCm39) |
F264S |
possibly damaging |
Het |
| Parp8 |
A |
T |
13: 117,031,600 (GRCm39) |
C332S |
possibly damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,098,053 (GRCm39) |
V780I |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,480,292 (GRCm39) |
|
probably benign |
Het |
| Ppt1 |
T |
A |
4: 122,737,848 (GRCm39) |
I62K |
probably damaging |
Het |
| Proser3 |
T |
C |
7: 30,249,071 (GRCm39) |
N7S |
probably benign |
Het |
| Ptk2b |
A |
G |
14: 66,414,567 (GRCm39) |
L311P |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 156,988,786 (GRCm39) |
N706S |
probably benign |
Het |
| Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
| Smurf2 |
T |
A |
11: 106,721,741 (GRCm39) |
|
probably benign |
Het |
| Snx32 |
A |
G |
19: 5,547,764 (GRCm39) |
L182P |
possibly damaging |
Het |
| Stpg2 |
A |
G |
3: 139,125,635 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
A |
G |
10: 23,816,997 (GRCm39) |
Y179C |
probably damaging |
Het |
| Tenm2 |
G |
A |
11: 35,918,232 (GRCm39) |
R1843* |
probably null |
Het |
| Tmco4 |
T |
C |
4: 138,748,260 (GRCm39) |
I280T |
probably damaging |
Het |
| Tuba4a |
C |
A |
1: 75,193,921 (GRCm39) |
C46F |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,703,603 (GRCm39) |
|
probably null |
Het |
| Vldlr |
A |
T |
19: 27,217,081 (GRCm39) |
I45L |
possibly damaging |
Het |
| Vmn2r120 |
C |
A |
17: 57,852,232 (GRCm39) |
G28V |
probably benign |
Het |
| Vmn2r37 |
C |
A |
7: 9,209,680 (GRCm39) |
V611L |
probably benign |
Het |
| Vmn2r67 |
A |
G |
7: 84,786,127 (GRCm39) |
L626P |
probably damaging |
Het |
| Wdr19 |
C |
T |
5: 65,379,082 (GRCm39) |
|
probably benign |
Het |
| Zfp595 |
T |
A |
13: 67,464,749 (GRCm39) |
K505* |
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 |
|
|
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