Incidental Mutation 'R4843:Ripk2'
ID |
371978 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ripk2
|
Ensembl Gene |
ENSMUSG00000041135 |
Gene Name |
receptor (TNFRSF)-interacting serine-threonine kinase 2 |
Synonyms |
2210420D18Rik, D4Bwg0615e, CARDIAK, RICK, CCK, CARD3, RIP2 |
MMRRC Submission |
042456-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.301)
|
Stock # |
R4843 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
16122733-16163647 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 16155073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 149
(T149A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037035]
[ENSMUST00000183871]
|
AlphaFold |
P58801 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037035
AA Change: T149A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000038833 Gene: ENSMUSG00000041135 AA Change: T149A
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 |
possibly damaging
Transcript: ENSMUST00000183871
AA Change: T149A
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000139381 Gene: ENSMUSG00000041135 AA Change: T149A
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
18 |
290 |
5.6e-46 |
PFAM |
Pfam:Pkinase_Tyr
|
18 |
290 |
1.2e-44 |
PFAM |
|
Meta Mutation Damage Score |
0.4951 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
95% (58/61) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp1 |
T |
A |
12: 30,946,144 (GRCm39) |
K124* |
probably null |
Het |
Actl11 |
G |
T |
9: 107,806,691 (GRCm39) |
C338F |
possibly damaging |
Het |
Adam5 |
G |
A |
8: 25,303,552 (GRCm39) |
S125F |
probably damaging |
Het |
Ap2s1 |
C |
A |
7: 16,477,271 (GRCm39) |
A44D |
possibly damaging |
Het |
AW554918 |
T |
C |
18: 25,473,057 (GRCm39) |
V84A |
probably benign |
Het |
Bsn |
G |
A |
9: 107,984,388 (GRCm39) |
T3222M |
unknown |
Het |
Car15 |
A |
G |
16: 17,654,472 (GRCm39) |
Y155H |
possibly damaging |
Het |
Cdca2 |
G |
T |
14: 67,914,425 (GRCm39) |
P945T |
probably damaging |
Het |
Cdh16 |
A |
G |
8: 105,348,172 (GRCm39) |
F182L |
probably damaging |
Het |
Cers6 |
G |
A |
2: 68,899,003 (GRCm39) |
A214T |
probably benign |
Het |
Ces1g |
A |
T |
8: 94,057,893 (GRCm39) |
M136K |
probably damaging |
Het |
Cnppd1 |
A |
G |
1: 75,113,086 (GRCm39) |
V394A |
probably benign |
Het |
Cyp3a59 |
A |
T |
5: 146,033,071 (GRCm39) |
I148F |
possibly damaging |
Het |
Dnah1 |
G |
A |
14: 30,986,920 (GRCm39) |
A3624V |
probably damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,394,487 (GRCm39) |
|
probably benign |
Het |
Fap |
G |
T |
2: 62,374,718 (GRCm39) |
P227Q |
probably damaging |
Het |
Fbxw10 |
G |
A |
11: 62,738,151 (GRCm39) |
R15H |
possibly damaging |
Het |
Gm11011 |
T |
C |
2: 169,429,240 (GRCm39) |
|
probably benign |
Het |
Gm11146 |
A |
C |
16: 77,392,144 (GRCm39) |
|
probably benign |
Het |
Grip1 |
G |
A |
10: 119,765,920 (GRCm39) |
R84Q |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,796,192 (GRCm39) |
C19R |
possibly damaging |
Het |
Hmgcll1 |
A |
G |
9: 75,979,916 (GRCm39) |
D102G |
possibly damaging |
Het |
Ighv16-1 |
A |
T |
12: 114,032,504 (GRCm39) |
Y99* |
probably null |
Het |
Kank1 |
T |
G |
19: 25,408,371 (GRCm39) |
S1283R |
probably damaging |
Het |
Kcnip1 |
T |
A |
11: 33,594,504 (GRCm39) |
H95L |
probably benign |
Het |
L3mbtl3 |
A |
T |
10: 26,207,777 (GRCm39) |
L314Q |
unknown |
Het |
Marveld3 |
C |
A |
8: 110,688,702 (GRCm39) |
R13L |
possibly damaging |
Het |
Mtrf1l |
G |
T |
10: 5,773,696 (GRCm39) |
P23Q |
possibly damaging |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Or5p69 |
G |
A |
7: 107,967,350 (GRCm39) |
A218T |
probably benign |
Het |
Or6c1b |
G |
T |
10: 129,273,316 (GRCm39) |
V212L |
probably benign |
Het |
Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
Plod3 |
G |
A |
5: 137,019,854 (GRCm39) |
W428* |
probably null |
Het |
Pnisr |
T |
A |
4: 21,857,400 (GRCm39) |
|
probably benign |
Het |
Ppip5k1 |
C |
A |
2: 121,157,368 (GRCm39) |
R1046L |
probably damaging |
Het |
Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
Prmt5 |
A |
T |
14: 54,753,582 (GRCm39) |
I99N |
probably benign |
Het |
Rpf2 |
C |
A |
10: 40,122,998 (GRCm39) |
|
probably benign |
Het |
Rtf1 |
T |
A |
2: 119,536,017 (GRCm39) |
D190E |
possibly damaging |
Het |
Shank2 |
T |
A |
7: 143,585,146 (GRCm39) |
M49K |
probably benign |
Het |
Snd1 |
T |
G |
6: 28,668,642 (GRCm39) |
V443G |
probably damaging |
Het |
Spag9 |
T |
C |
11: 93,988,644 (GRCm39) |
F555L |
probably damaging |
Het |
Srfbp1 |
A |
G |
18: 52,621,749 (GRCm39) |
K270R |
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,914,847 (GRCm39) |
N2230I |
probably damaging |
Het |
Tmem106a |
T |
C |
11: 101,477,021 (GRCm39) |
|
probably benign |
Het |
Tpsg1 |
A |
T |
17: 25,589,591 (GRCm39) |
|
probably benign |
Het |
Trank1 |
A |
G |
9: 111,195,146 (GRCm39) |
S1057G |
probably benign |
Het |
Unc13d |
G |
A |
11: 115,965,085 (GRCm39) |
T220M |
probably damaging |
Het |
Vmn1r68 |
T |
C |
7: 10,261,904 (GRCm39) |
T65A |
probably benign |
Het |
Vps50 |
T |
C |
6: 3,536,974 (GRCm39) |
|
probably null |
Het |
Washc5 |
A |
G |
15: 59,222,220 (GRCm39) |
I85T |
possibly damaging |
Het |
Zfp677 |
C |
T |
17: 21,612,788 (GRCm39) |
T2I |
probably benign |
Het |
Zxdc |
A |
G |
6: 90,359,254 (GRCm39) |
T629A |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTCCTTCACATACCCAGTCAGGT -3'
(R):5'- CATCTTAGTTTGTAATCTGTTTCCTGG -3'
Sequencing Primer
(F):5'- GGTTTCCTACCGCAAGCCAC -3'
(R):5'- GTAATCTGTTTCCTGGTGGATTTC -3'
|
Posted On |
2016-03-01 |