Incidental Mutation 'R7479:Ripk2'
ID 579647
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 045553-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.301) question?
Stock # R7479 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 16122733-16163647 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16155154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 122 (F122L)
Ref Sequence ENSEMBL: ENSMUSP00000038833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037035] [ENSMUST00000183871]
AlphaFold P58801
Predicted Effect probably benign
Transcript: ENSMUST00000037035
AA Change: F122L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000038833
Gene: ENSMUSG00000041135
AA Change: F122L

DomainStartEndE-ValueType
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: F122L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139381
Gene: ENSMUSG00000041135
AA Change: F122L

DomainStartEndE-ValueType
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: 99.5%
  • 20x: 98.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,372,142 (GRCm39) M81L probably benign Het
Ano9 T C 7: 140,682,348 (GRCm39) T667A probably damaging Het
Anpep T A 7: 79,485,118 (GRCm39) I623F probably benign Het
Apba2 T C 7: 64,389,607 (GRCm39) I501T possibly damaging Het
Ascc3 T A 10: 50,525,895 (GRCm39) Y536N probably damaging Het
B4galt1 T C 4: 40,823,587 (GRCm39) Y168C probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C2 A G 17: 35,082,441 (GRCm39) C647R probably damaging Het
Cnot4 G A 6: 35,001,083 (GRCm39) T604I probably benign Het
Col11a1 C T 3: 113,896,218 (GRCm39) T506I unknown Het
Cr2 A C 1: 194,840,718 (GRCm39) probably null Het
Ctsm A T 13: 61,685,569 (GRCm39) V281D probably damaging Het
Cyp2c69 T C 19: 39,870,001 (GRCm39) I74V probably benign Het
Dennd4c T A 4: 86,717,590 (GRCm39) V529D probably damaging Het
Dlgap3 C A 4: 127,088,418 (GRCm39) H5N possibly damaging Het
Dusp10 C A 1: 183,769,617 (GRCm39) H194Q probably damaging Het
Eln C G 5: 134,736,429 (GRCm39) G753A unknown Het
Emb T A 13: 117,385,962 (GRCm39) N118K possibly damaging Het
Fam184a C T 10: 53,531,110 (GRCm39) V755I probably benign Het
Fryl A G 5: 73,254,904 (GRCm39) I846T possibly damaging Het
Gabbr2 T A 4: 46,681,166 (GRCm39) I722F probably damaging Het
Gabrb3 T A 7: 57,474,171 (GRCm39) D362E possibly damaging Het
Galnt2 G A 8: 125,061,077 (GRCm39) G357D probably damaging Het
Gbx2 A T 1: 89,858,373 (GRCm39) S35R probably benign Het
Glg1 A G 8: 111,924,367 (GRCm39) I207T possibly damaging Het
Gm10192 A T 4: 97,071,272 (GRCm39) N44K unknown Het
Gpd1 A G 15: 99,617,984 (GRCm39) D123G probably benign Het
Grm2 A T 9: 106,531,050 (GRCm39) D146E possibly damaging Het
Gsg1l2 A G 11: 67,676,032 (GRCm39) D132G probably benign Het
Hecw1 C T 13: 14,515,425 (GRCm39) G236R probably damaging Het
Hif3a G A 7: 16,776,560 (GRCm39) T462I possibly damaging Het
Hspg2 C T 4: 137,266,714 (GRCm39) A1934V probably benign Het
Il7r C T 15: 9,513,117 (GRCm39) A131T probably damaging Het
Itga6 C T 2: 71,668,680 (GRCm39) R540* probably null Het
Kcnh2 A G 5: 24,530,490 (GRCm39) probably null Het
Kcnq4 C T 4: 120,573,022 (GRCm39) A260T probably damaging Het
Lrp1b T C 2: 40,691,517 (GRCm39) N3434S Het
Lrrc41 C T 4: 115,946,238 (GRCm39) P318S probably damaging Het
Map4 G A 9: 109,897,892 (GRCm39) G873R possibly damaging Het
Med24 A G 11: 98,595,787 (GRCm39) I968T possibly damaging Het
Mfap5 T C 6: 122,503,821 (GRCm39) probably null Het
Mtcl1 A G 17: 66,686,485 (GRCm39) V807A probably benign Het
Mug1 T A 6: 121,855,467 (GRCm39) S934T possibly damaging Het
Nckap5l C A 15: 99,321,127 (GRCm39) V1218F probably damaging Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Nkx2-4 T C 2: 146,926,088 (GRCm39) E258G probably benign Het
Polr1a T A 6: 71,913,281 (GRCm39) V545E probably damaging Het
Ppp1r9b A G 11: 94,882,858 (GRCm39) D162G possibly damaging Het
Rhot2 A G 17: 26,059,723 (GRCm39) L367P probably damaging Het
Scn11a T C 9: 119,588,941 (GRCm39) T1322A probably benign Het
Scn8a T A 15: 100,853,358 (GRCm39) L115Q probably damaging Het
Sel1l3 G T 5: 53,274,462 (GRCm39) P1006Q probably damaging Het
Septin11 A T 5: 93,304,804 (GRCm39) N207I probably damaging Het
Sez6l2 C T 7: 126,562,831 (GRCm39) T669I probably damaging Het
Sfxn4 T A 19: 60,847,112 (GRCm39) D57V possibly damaging Het
Smarca2 T A 19: 26,617,887 (GRCm39) V306D probably benign Het
Srgap3 C T 6: 112,712,794 (GRCm39) probably null Het
Tas2r134 T C 2: 51,517,541 (GRCm39) F7L not run Het
Tbcd T C 11: 121,383,431 (GRCm39) probably null Het
Tcn2 G A 11: 3,867,703 (GRCm39) A413V probably damaging Het
Tdp1 T C 12: 99,857,654 (GRCm39) V71A probably benign Het
Tjp1 T C 7: 64,950,928 (GRCm39) T1649A probably damaging Het
Tnc T C 4: 63,935,865 (GRCm39) E357G possibly damaging Het
Tnrc6b A G 15: 80,773,327 (GRCm39) T1158A probably benign Het
Ttn C A 2: 76,568,952 (GRCm39) E27314* probably null Het
Vps35 G T 8: 85,997,434 (GRCm39) T512K probably benign Het
Zfp40 A T 17: 23,396,292 (GRCm39) S98R probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp945 A T 17: 23,070,340 (GRCm39) C541S possibly damaging Het
Zfp976 T A 7: 42,262,603 (GRCm39) E412D probably benign Het
Other mutations in Ripk2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CTACCGCAAGCCACAGGG -3'
(R):5'- GGGGAAGAATATTAAACAGTATCAACT -3'

Sequencing Primer
(F):5'- CACAGGGAGGTGGTACTAAAGAC -3'
(R):5'- AATCTGTTTCCTGGTGGATT -3'
Posted On 2019-10-07