Incidental Mutation 'R4463:Ripk2'
| ID |
330215 |
| 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 |
041721-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.301)
|
| Stock # |
R4463 (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 16151968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 197
(N197S)
|
| 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: N197S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000038833
Gene: ENSMUSG00000041135
AA Change: N197S
| 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: N197S
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000139381
Gene: ENSMUSG00000041135
AA Change: N197S
| 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 |
0.0657 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (57/57) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,769,981 (GRCm39) |
|
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,756,005 (GRCm39) |
|
probably null |
Het |
| Alox12e |
A |
G |
11: 70,209,082 (GRCm39) |
L388P |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,382,748 (GRCm39) |
S27T |
possibly damaging |
Het |
| Capn2 |
G |
A |
1: 182,307,329 (GRCm39) |
|
probably benign |
Het |
| Catspere1 |
G |
A |
1: 177,765,279 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc158 |
T |
C |
5: 92,782,159 (GRCm39) |
D820G |
probably null |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,705,627 (GRCm39) |
D761E |
probably benign |
Het |
| Chst8 |
T |
C |
7: 34,374,645 (GRCm39) |
D398G |
probably damaging |
Het |
| Clns1a |
T |
C |
7: 97,370,156 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,318,084 (GRCm39) |
Y355F |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,846,710 (GRCm39) |
|
probably null |
Het |
| Eif1ad11 |
A |
G |
12: 87,994,129 (GRCm39) |
D119G |
probably benign |
Het |
| Eipr1 |
G |
A |
12: 28,909,338 (GRCm39) |
A202T |
probably damaging |
Het |
| Fam83a |
T |
C |
15: 57,858,655 (GRCm39) |
S232P |
probably damaging |
Het |
| Fastkd2 |
C |
T |
1: 63,774,968 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,850,144 (GRCm39) |
M1197V |
probably benign |
Het |
| Fgfr4 |
G |
A |
13: 55,304,280 (GRCm39) |
V107I |
probably benign |
Het |
| Gatad1 |
G |
T |
5: 3,697,404 (GRCm39) |
S72R |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,763,738 (GRCm39) |
D1471G |
probably damaging |
Het |
| Gm1330 |
A |
T |
2: 148,845,064 (GRCm39) |
Y36* |
probably null |
Het |
| Gm29125 |
T |
C |
1: 80,360,903 (GRCm39) |
|
noncoding transcript |
Het |
| Idi1 |
G |
A |
13: 8,937,508 (GRCm39) |
|
probably benign |
Het |
| Itgbl1 |
C |
T |
14: 124,078,080 (GRCm39) |
T190I |
probably damaging |
Het |
| Kbtbd3 |
G |
A |
9: 4,331,257 (GRCm39) |
G544R |
probably damaging |
Het |
| Kifc3 |
T |
C |
8: 95,828,744 (GRCm39) |
T638A |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,068,695 (GRCm39) |
C798Y |
probably damaging |
Het |
| Larp6 |
C |
A |
9: 60,644,279 (GRCm39) |
H140N |
probably damaging |
Het |
| Mctp1 |
A |
T |
13: 76,860,206 (GRCm39) |
D108V |
probably damaging |
Het |
| Myzap |
G |
T |
9: 71,462,933 (GRCm39) |
D204E |
probably benign |
Het |
| Neb |
GCC |
GC |
2: 52,169,734 (GRCm39) |
|
probably null |
Het |
| Or13p8 |
T |
C |
4: 118,583,855 (GRCm39) |
V137A |
probably benign |
Het |
| Or1j20 |
T |
C |
2: 36,760,205 (GRCm39) |
I209T |
probably benign |
Het |
| Or4c102 |
T |
C |
2: 88,422,976 (GRCm39) |
V276A |
possibly damaging |
Het |
| Phka1 |
A |
G |
X: 101,588,990 (GRCm39) |
V818A |
probably benign |
Het |
| Plek |
T |
C |
11: 16,931,873 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Pp2d1 |
A |
G |
17: 53,822,886 (GRCm39) |
I60T |
probably benign |
Het |
| Prmt3 |
T |
C |
7: 49,467,837 (GRCm39) |
Y348H |
probably damaging |
Het |
| Psg27 |
G |
T |
7: 18,291,010 (GRCm39) |
Q398K |
possibly damaging |
Het |
| Raver1 |
T |
C |
9: 21,003,123 (GRCm39) |
T51A |
probably benign |
Het |
| Sectm1a |
T |
A |
11: 120,960,477 (GRCm39) |
I113L |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Snph |
A |
T |
2: 151,436,035 (GRCm39) |
S229T |
probably damaging |
Het |
| Stpg4 |
A |
G |
17: 87,697,101 (GRCm39) |
F183L |
probably benign |
Het |
| Tango6 |
A |
T |
8: 107,415,706 (GRCm39) |
T176S |
probably benign |
Het |
| Vmn1r196 |
A |
G |
13: 22,477,853 (GRCm39) |
Q164R |
probably benign |
Het |
| Vstm4 |
T |
A |
14: 32,639,833 (GRCm39) |
L236Q |
probably damaging |
Het |
| Xylb |
A |
G |
9: 119,215,433 (GRCm39) |
D462G |
probably benign |
Het |
| Zc2hc1c |
A |
G |
12: 85,337,071 (GRCm39) |
R243G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACCTTTGGCCTTGTTACATG -3'
(R):5'- AACAGCAGTTGGTTCTTGAAC -3'
Sequencing Primer
(F):5'- CCTTGTTACATGTTCCTAGGACAAAC -3'
(R):5'- GTCACTCTCTCAATCACGA -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation