Incidental Mutation 'R0112:Ripk4'
ID 20550
Institutional Source Beutler Lab
Gene Symbol Ripk4
Ensembl Gene ENSMUSG00000005251
Gene Name receptor-interacting serine-threonine kinase 4
Synonyms RIP4, ANKK2, Ankrd3, PKK, DIk
MMRRC Submission 038398-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # R0112 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 16
Chromosomal Location 97543133-97564979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97544761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 629 (C629R)
Ref Sequence ENSEMBL: ENSMUSP00000019386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019386] [ENSMUST00000113743]
AlphaFold Q9ERK0
Predicted Effect probably benign
Transcript: ENSMUST00000019386
AA Change: C629R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000019386
Gene: ENSMUSG00000005251
AA Change: C629R

DomainStartEndE-ValueType
Pfam:Pkinase 22 283 1.8e-47 PFAM
Pfam:Pkinase_Tyr 23 283 6e-45 PFAM
low complexity region 356 396 N/A INTRINSIC
ANK 439 468 2.58e-3 SMART
ANK 472 501 3.41e-3 SMART
ANK 505 534 7.42e-4 SMART
ANK 538 567 3.57e-6 SMART
ANK 571 601 3.85e-2 SMART
ANK 605 634 3.15e-7 SMART
ANK 638 667 5.16e-3 SMART
ANK 671 700 2.2e-6 SMART
ANK 704 734 1.68e-2 SMART
ANK 736 765 3.46e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113743
AA Change: C566R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109372
Gene: ENSMUSG00000005251
AA Change: C566R

DomainStartEndE-ValueType
Pfam:Pkinase 1 220 1e-39 PFAM
Pfam:Pkinase_Tyr 1 220 7.4e-39 PFAM
low complexity region 293 333 N/A INTRINSIC
ANK 376 405 2.58e-3 SMART
ANK 409 438 3.41e-3 SMART
ANK 442 471 7.42e-4 SMART
ANK 475 504 3.57e-6 SMART
ANK 508 538 3.85e-2 SMART
ANK 542 571 3.15e-7 SMART
ANK 575 604 5.16e-3 SMART
ANK 608 637 2.2e-6 SMART
ANK 641 671 1.68e-2 SMART
ANK 673 702 3.46e-4 SMART
Meta Mutation Damage Score 0.1655 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (86/86)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in perinatal lethality and epithelial developmental defects. Homozygous mutant lack oral, anal, and nasal openings and display shorter hindlimbs and tail that are partially fused to the body. The skin is significantly thicker with areas of orthokeratosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,244,815 (GRCm39) Y179F probably benign Het
Abcd4 A G 12: 84,659,673 (GRCm39) probably benign Het
Abhd12b C T 12: 70,227,791 (GRCm39) T191M probably benign Het
Adcy5 A G 16: 34,976,548 (GRCm39) E27G possibly damaging Het
Adgb G A 10: 10,282,902 (GRCm39) probably benign Het
Afdn T C 17: 14,104,899 (GRCm39) S1186P probably damaging Het
Atf6b G T 17: 34,870,600 (GRCm39) R351L probably damaging Het
Axin2 T C 11: 108,830,223 (GRCm39) S348P possibly damaging Het
Bfsp1 A C 2: 143,669,563 (GRCm39) probably null Het
Brd1 A G 15: 88,614,586 (GRCm39) V103A probably benign Het
Ccdc13 C A 9: 121,642,547 (GRCm39) K392N probably damaging Het
Ccdc18 A G 5: 108,321,627 (GRCm39) K577R probably damaging Het
Csmd2 G T 4: 128,389,822 (GRCm39) G2186C probably damaging Het
Cyp2j5 A T 4: 96,517,760 (GRCm39) M484K probably benign Het
Defb3 T A 8: 19,343,423 (GRCm39) L12Q probably null Het
Defb7 G T 8: 19,545,186 (GRCm39) probably null Het
Dhx35 T A 2: 158,682,540 (GRCm39) M491K probably damaging Het
Dnah17 T C 11: 117,965,260 (GRCm39) S2261G possibly damaging Het
Dnah5 A C 15: 28,263,825 (GRCm39) E853D probably benign Het
Dner C A 1: 84,560,774 (GRCm39) A23S probably benign Het
Dock5 A C 14: 68,057,090 (GRCm39) S539A probably benign Het
Dsg2 T A 18: 20,716,099 (GRCm39) F317I probably benign Het
Enox1 A T 14: 77,936,638 (GRCm39) I539F possibly damaging Het
Eogt G A 6: 97,112,245 (GRCm39) probably benign Het
Fbxo22 A G 9: 55,130,630 (GRCm39) T300A probably benign Het
Fes T C 7: 80,033,753 (GRCm39) D166G probably damaging Het
Fn1 A G 1: 71,648,812 (GRCm39) S1366P probably damaging Het
Fndc3a A T 14: 72,777,935 (GRCm39) probably benign Het
Foxh1 T C 15: 76,553,210 (GRCm39) H168R probably benign Het
Galnt14 T G 17: 73,881,979 (GRCm39) probably benign Het
Gdf6 A G 4: 9,844,482 (GRCm39) D2G probably damaging Het
Gp6 C A 7: 4,373,183 (GRCm39) A247S probably benign Het
Gp6 G C 7: 4,374,626 (GRCm39) P232A probably benign Het
Grin2c A G 11: 115,141,960 (GRCm39) Y820H probably damaging Het
Gtf2h4 T C 17: 35,981,340 (GRCm39) T198A possibly damaging Het
Helz T C 11: 107,563,774 (GRCm39) probably benign Het
Htr1d A G 4: 136,170,311 (GRCm39) E180G probably benign Het
Igsf10 A G 3: 59,233,429 (GRCm39) V1768A probably benign Het
Ints10 A T 8: 69,279,954 (GRCm39) T694S probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lipc T A 9: 70,727,709 (GRCm39) Y131F probably damaging Het
Litaf G T 16: 10,784,375 (GRCm39) T45K probably damaging Het
Lmo7 A T 14: 102,124,629 (GRCm39) R363* probably null Het
Lrrc37a A T 11: 103,391,739 (GRCm39) Y1229N probably benign Het
Man2a2 C T 7: 80,008,024 (GRCm39) A943T probably damaging Het
Mtor A G 4: 148,565,380 (GRCm39) Y1030C probably damaging Het
Naalad2 G T 9: 18,262,743 (GRCm39) Y384* probably null Het
Nat2 C T 8: 67,954,378 (GRCm39) Q163* probably null Het
Nell2 A G 15: 95,329,562 (GRCm39) probably benign Het
Nphp3 C T 9: 103,914,547 (GRCm39) H102Y possibly damaging Het
Olr1 T C 6: 129,465,869 (GRCm39) S46G possibly damaging Het
Or2y13 A T 11: 49,414,961 (GRCm39) H137L possibly damaging Het
Or52x1 A T 7: 104,852,866 (GRCm39) M228K probably benign Het
Or5b94 C T 19: 12,652,121 (GRCm39) T184I probably benign Het
Parg C A 14: 31,924,390 (GRCm39) A63E probably damaging Het
Pik3cg A G 12: 32,245,714 (GRCm39) probably benign Het
Rnf145 A G 11: 44,454,978 (GRCm39) T620A probably benign Het
Rskr T C 11: 78,182,507 (GRCm39) probably benign Het
Samd9l T G 6: 3,376,031 (GRCm39) D410A possibly damaging Het
Serpinb9f A T 13: 33,511,934 (GRCm39) probably benign Het
Slc19a1 T C 10: 76,877,999 (GRCm39) I178T probably benign Het
Slco1b2 A T 6: 141,616,837 (GRCm39) Y390F probably benign Het
Speg A G 1: 75,361,676 (GRCm39) E230G possibly damaging Het
Tbc1d9 C A 8: 83,991,466 (GRCm39) probably benign Het
Tmem131l G A 3: 83,847,894 (GRCm39) Q324* probably null Het
Trf A G 9: 103,104,155 (GRCm39) probably benign Het
Trp53 T G 11: 69,479,505 (GRCm39) Y202D probably damaging Het
Trpv1 T A 11: 73,144,098 (GRCm39) M618K probably damaging Het
Trrap C A 5: 144,759,571 (GRCm39) Y2250* probably null Het
Ttc3 A G 16: 94,186,181 (GRCm39) probably benign Het
Ubtfl1 T G 9: 18,321,083 (GRCm39) S204A probably benign Het
Uck2 A T 1: 167,055,340 (GRCm39) Y203N probably damaging Het
Utrn A T 10: 12,562,209 (GRCm39) L1280* probably null Het
Vmn1r178 A T 7: 23,593,609 (GRCm39) H146L possibly damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r108 T C 17: 20,691,897 (GRCm39) M209V probably benign Het
Vmn2r9 G A 5: 108,990,991 (GRCm39) T790I probably damaging Het
Vmn2r94 C A 17: 18,463,866 (GRCm39) R808L probably benign Het
Zbtb7c A T 18: 76,269,962 (GRCm39) S17C probably damaging Het
Zfp811 C T 17: 33,016,738 (GRCm39) R434Q probably damaging Het
Zkscan6 A T 11: 65,705,689 (GRCm39) probably benign Het
Other mutations in Ripk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Ripk4 APN 16 97,552,696 (GRCm39) nonsense probably null
IGL01823:Ripk4 APN 16 97,556,483 (GRCm39) missense possibly damaging 0.89
IGL01921:Ripk4 APN 16 97,544,565 (GRCm39) missense possibly damaging 0.62
IGL02023:Ripk4 APN 16 97,556,431 (GRCm39) missense probably damaging 1.00
IGL02201:Ripk4 APN 16 97,556,377 (GRCm39) missense possibly damaging 0.91
IGL02709:Ripk4 APN 16 97,544,766 (GRCm39) missense probably damaging 1.00
G1citation:Ripk4 UTSW 16 97,547,236 (GRCm39) missense probably damaging 1.00
I2288:Ripk4 UTSW 16 97,549,345 (GRCm39) missense probably benign 0.16
PIT4495001:Ripk4 UTSW 16 97,544,370 (GRCm39) missense probably damaging 0.99
R0060:Ripk4 UTSW 16 97,564,718 (GRCm39) splice site probably benign
R0383:Ripk4 UTSW 16 97,549,312 (GRCm39) missense probably damaging 1.00
R0524:Ripk4 UTSW 16 97,556,487 (GRCm39) nonsense probably null
R0540:Ripk4 UTSW 16 97,545,375 (GRCm39) missense probably damaging 1.00
R0967:Ripk4 UTSW 16 97,545,372 (GRCm39) missense probably damaging 1.00
R1646:Ripk4 UTSW 16 97,545,097 (GRCm39) missense probably damaging 1.00
R1785:Ripk4 UTSW 16 97,551,331 (GRCm39) missense probably damaging 1.00
R2058:Ripk4 UTSW 16 97,545,342 (GRCm39) nonsense probably null
R2134:Ripk4 UTSW 16 97,544,933 (GRCm39) missense probably damaging 1.00
R2135:Ripk4 UTSW 16 97,544,933 (GRCm39) missense probably damaging 1.00
R3410:Ripk4 UTSW 16 97,545,157 (GRCm39) missense probably benign 0.00
R3411:Ripk4 UTSW 16 97,545,157 (GRCm39) missense probably benign 0.00
R4538:Ripk4 UTSW 16 97,544,352 (GRCm39) nonsense probably null
R4627:Ripk4 UTSW 16 97,545,226 (GRCm39) missense probably damaging 0.99
R4665:Ripk4 UTSW 16 97,556,273 (GRCm39) missense probably damaging 0.98
R4704:Ripk4 UTSW 16 97,547,204 (GRCm39) nonsense probably null
R4769:Ripk4 UTSW 16 97,545,262 (GRCm39) missense probably damaging 1.00
R4860:Ripk4 UTSW 16 97,552,736 (GRCm39) missense probably damaging 0.97
R4860:Ripk4 UTSW 16 97,552,736 (GRCm39) missense probably damaging 0.97
R5240:Ripk4 UTSW 16 97,544,967 (GRCm39) missense probably damaging 1.00
R5864:Ripk4 UTSW 16 97,564,782 (GRCm39) missense probably damaging 0.98
R6027:Ripk4 UTSW 16 97,545,274 (GRCm39) missense probably damaging 1.00
R6035:Ripk4 UTSW 16 97,545,387 (GRCm39) missense probably damaging 1.00
R6035:Ripk4 UTSW 16 97,545,387 (GRCm39) missense probably damaging 1.00
R6291:Ripk4 UTSW 16 97,556,323 (GRCm39) missense probably damaging 1.00
R6343:Ripk4 UTSW 16 97,564,726 (GRCm39) critical splice donor site probably benign
R6572:Ripk4 UTSW 16 97,547,105 (GRCm39) nonsense probably null
R6783:Ripk4 UTSW 16 97,549,237 (GRCm39) missense probably damaging 1.00
R6822:Ripk4 UTSW 16 97,547,236 (GRCm39) missense probably damaging 1.00
R7215:Ripk4 UTSW 16 97,548,523 (GRCm39) splice site probably null
R7251:Ripk4 UTSW 16 97,544,449 (GRCm39) missense probably benign
R7275:Ripk4 UTSW 16 97,545,157 (GRCm39) missense probably benign 0.00
R7356:Ripk4 UTSW 16 97,544,349 (GRCm39) missense probably damaging 0.98
R7621:Ripk4 UTSW 16 97,547,125 (GRCm39) missense probably damaging 1.00
R8065:Ripk4 UTSW 16 97,564,737 (GRCm39) missense probably damaging 0.97
R8067:Ripk4 UTSW 16 97,564,737 (GRCm39) missense probably damaging 0.97
R8191:Ripk4 UTSW 16 97,564,726 (GRCm39) critical splice donor site probably benign
R8742:Ripk4 UTSW 16 97,556,272 (GRCm39) missense probably damaging 1.00
R8968:Ripk4 UTSW 16 97,547,203 (GRCm39) missense probably benign 0.38
R9209:Ripk4 UTSW 16 97,551,311 (GRCm39) missense possibly damaging 0.74
R9513:Ripk4 UTSW 16 97,547,098 (GRCm39) nonsense probably null
R9784:Ripk4 UTSW 16 97,549,306 (GRCm39) missense possibly damaging 0.46
Z1176:Ripk4 UTSW 16 97,551,302 (GRCm39) missense probably damaging 1.00
Z1177:Ripk4 UTSW 16 97,556,378 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CAGACAGGTCAATGAGGTCAGCAC -3'
(R):5'- ATGCCTGGTTGCCTCTGCACTATG -3'

Sequencing Primer
(F):5'- CCTCTATGAGCAGCTTGACAGTAG -3'
(R):5'- TGCACTATGCTGCCTGG -3'
Posted On 2013-04-11