Incidental Mutation 'R6197:Ripk2'
| ID |
502967 |
| 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 |
044337-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.306)
|
| Stock # |
R6197 (G1)
|
| Quality Score |
152.008 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
16122733-16163647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16163330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 23
(Y23H)
|
| 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: Y23H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000038833
Gene: ENSMUSG00000041135
AA Change: Y23H
| 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: ENSMUST00000151122
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183871
AA Change: Y23H
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139381
Gene: ENSMUSG00000041135
AA Change: Y23H
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
92% (49/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
T |
A |
5: 3,630,442 (GRCm39) |
Y119* |
probably null |
Het |
| Abcb9 |
C |
A |
5: 124,209,812 (GRCm39) |
E664* |
probably null |
Het |
| Adgrl2 |
T |
C |
3: 148,564,578 (GRCm39) |
D334G |
probably damaging |
Het |
| Ak9 |
T |
G |
10: 41,193,826 (GRCm39) |
C57G |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,724,952 (GRCm39) |
K809E |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,896,099 (GRCm39) |
I223V |
probably benign |
Het |
| Cacna2d3 |
A |
T |
14: 28,630,278 (GRCm39) |
V1022E |
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
| Cd37 |
A |
G |
7: 44,886,598 (GRCm39) |
C85R |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,063,764 (GRCm39) |
S7G |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,611,188 (GRCm39) |
N561S |
probably benign |
Het |
| Cnbd2 |
A |
G |
2: 156,217,494 (GRCm39) |
E661G |
possibly damaging |
Het |
| Col6a3 |
A |
T |
1: 90,750,063 (GRCm39) |
F257Y |
probably damaging |
Het |
| Cpt1b |
T |
C |
15: 89,309,037 (GRCm39) |
Y55C |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 15,976,611 (GRCm39) |
V2869A |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,143,482 (GRCm39) |
E387G |
probably benign |
Het |
| Eny2 |
T |
A |
15: 44,292,949 (GRCm39) |
|
probably null |
Het |
| Fbxo10 |
G |
T |
4: 45,043,857 (GRCm39) |
H655Q |
probably benign |
Het |
| Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
| Gpx2 |
C |
T |
12: 76,842,068 (GRCm39) |
G28S |
probably damaging |
Het |
| H2-Q5 |
G |
T |
17: 35,613,918 (GRCm39) |
A156S |
probably benign |
Het |
| Hoxd4 |
A |
G |
2: 74,558,807 (GRCm39) |
D210G |
possibly damaging |
Het |
| Hoxd9 |
A |
G |
2: 74,529,166 (GRCm39) |
Q256R |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,346,085 (GRCm39) |
V2571A |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,537,074 (GRCm39) |
V214A |
possibly damaging |
Het |
| Myh1 |
C |
T |
11: 67,111,793 (GRCm39) |
A1716V |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,261,287 (GRCm39) |
D249G |
probably damaging |
Het |
| Nup54 |
TCTGCTGCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTGCTGCTG |
5: 92,578,663 (GRCm39) |
|
probably benign |
Het |
| Or10v9 |
G |
T |
19: 11,833,148 (GRCm39) |
H56Q |
probably damaging |
Het |
| Or4c124 |
A |
T |
2: 89,155,677 (GRCm39) |
N282K |
probably damaging |
Het |
| Or5w17 |
C |
T |
2: 87,583,696 (GRCm39) |
V214I |
probably benign |
Het |
| Or7a37 |
T |
G |
10: 78,805,974 (GRCm39) |
L164V |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
C |
4: 143,423,886 (GRCm39) |
Y301C |
possibly damaging |
Het |
| Prss59 |
A |
G |
6: 40,897,939 (GRCm39) |
I248T |
probably benign |
Het |
| Pwwp2a |
A |
G |
11: 43,595,423 (GRCm39) |
D196G |
probably benign |
Het |
| Rarg |
A |
T |
15: 102,150,327 (GRCm39) |
C93S |
possibly damaging |
Het |
| Rcc1 |
T |
C |
4: 132,065,073 (GRCm39) |
D150G |
possibly damaging |
Het |
| Rragc |
A |
G |
4: 123,811,340 (GRCm39) |
Y5C |
possibly damaging |
Het |
| Rubcnl |
G |
A |
14: 75,269,369 (GRCm39) |
G9D |
probably damaging |
Het |
| Sephs2 |
A |
T |
7: 126,872,073 (GRCm39) |
V340E |
probably damaging |
Het |
| Slc22a3 |
C |
T |
17: 12,677,438 (GRCm39) |
M243I |
probably benign |
Het |
| Slco6c1 |
A |
G |
1: 97,000,518 (GRCm39) |
|
probably null |
Het |
| Sncaip |
T |
G |
18: 53,039,966 (GRCm39) |
I308R |
probably damaging |
Het |
| Supt16 |
G |
A |
14: 52,408,338 (GRCm39) |
T869M |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,674,366 (GRCm39) |
E1817K |
possibly damaging |
Het |
| Usp4 |
C |
A |
9: 108,248,154 (GRCm39) |
Q395K |
probably damaging |
Het |
| Usp49 |
T |
A |
17: 47,984,272 (GRCm39) |
S210T |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,505,498 (GRCm39) |
I124M |
probably damaging |
Het |
| Vmn1r234 |
G |
A |
17: 21,449,589 (GRCm39) |
V168I |
probably benign |
Het |
| Vnn3 |
T |
A |
10: 23,732,187 (GRCm39) |
C146S |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,088,953 (GRCm39) |
D1234G |
probably damaging |
Het |
| Zfp617 |
T |
A |
8: 72,687,098 (GRCm39) |
V476E |
probably benign |
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 |
|
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 |
|
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'- AGGACTTAAGGACTCGCCG -3'
(R):5'- TTGGTGAAGGTAGGAGCCCG -3'
Sequencing Primer
(F):5'- AGCAGCGGCGTGTGGATGT -3'
(R):5'- GCCGAGTCCAGGAGGAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation