Incidental Mutation 'R6572:Ripk4'
ID 526301
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 044696-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # R6572 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 97543133-97564979 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 97547105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 323 (R323*)
Ref Sequence ENSEMBL: ENSMUSP00000109372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019386] [ENSMUST00000113743]
AlphaFold Q9ERK0
Predicted Effect probably null
Transcript: ENSMUST00000019386
AA Change: R386*
SMART Domains Protein: ENSMUSP00000019386
Gene: ENSMUSG00000005251
AA Change: R386*

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 null
Transcript: ENSMUST00000113743
AA Change: R323*
SMART Domains Protein: ENSMUSP00000109372
Gene: ENSMUSG00000005251
AA Change: R323*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (62/64)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C T 15: 37,425,961 (GRCm39) Q34* probably null Het
Adamts3 T A 5: 90,009,468 (GRCm39) H65L possibly damaging Het
Ago2 A G 15: 72,998,826 (GRCm39) V257A probably benign Het
Ahnak A G 19: 8,985,340 (GRCm39) K2208R probably damaging Het
Apc2 C T 10: 80,147,613 (GRCm39) S860L probably damaging Het
Arhgap18 A G 10: 26,722,412 (GRCm39) probably null Het
Arhgap33 T C 7: 30,226,635 (GRCm39) E524G probably damaging Het
Ascc3 C T 10: 50,566,343 (GRCm39) Q763* probably null Het
Atg2a T C 19: 6,304,695 (GRCm39) L1184P probably damaging Het
Baiap2l1 A G 5: 144,223,112 (GRCm39) L75P probably damaging Het
Btbd17 A T 11: 114,683,046 (GRCm39) L222Q probably damaging Het
Chst13 G T 6: 90,286,588 (GRCm39) R125S probably benign Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Cracr2a T C 6: 127,585,715 (GRCm39) probably null Het
Dchs1 T A 7: 105,408,013 (GRCm39) T1940S possibly damaging Het
Ddit4l G T 3: 137,332,111 (GRCm39) R159L probably benign Het
Dock3 A G 9: 106,866,674 (GRCm39) Y679H probably damaging Het
Dyrk4 T G 6: 126,874,201 (GRCm39) I130L probably benign Het
Eml2 T C 7: 18,930,539 (GRCm39) V373A possibly damaging Het
Entrep1 A T 19: 23,962,082 (GRCm39) M307K possibly damaging Het
Ephb1 A G 9: 101,944,097 (GRCm39) F312L probably benign Het
Fndc9 A T 11: 46,128,708 (GRCm39) I76F probably damaging Het
Frk G A 10: 34,459,963 (GRCm39) R186K probably benign Het
Gpatch3 G T 4: 133,302,191 (GRCm39) G41C probably damaging Het
Greb1l T A 18: 10,522,131 (GRCm39) H633Q probably benign Het
Gstt4 T A 10: 75,650,954 (GRCm39) T223S probably damaging Het
Hpd C T 5: 123,318,739 (GRCm39) E60K probably benign Het
Inpp5d C T 1: 87,623,118 (GRCm39) P403S probably damaging Het
Klk1b9 T A 7: 43,629,159 (GRCm39) I189K probably benign Het
Kmt2e A T 5: 23,702,579 (GRCm39) H239L possibly damaging Het
Lrriq3 A G 3: 154,887,312 (GRCm39) D344G probably benign Het
Neb A G 2: 52,168,859 (GRCm39) I1892T probably damaging Het
Neto2 A T 8: 86,397,033 (GRCm39) I73N possibly damaging Het
Nipal3 A T 4: 135,174,564 (GRCm39) S396T probably benign Het
Or1e35 A G 11: 73,797,629 (GRCm39) S230P possibly damaging Het
Or51q1c T A 7: 103,648,391 (GRCm39) probably null Het
Phf20l1 T A 15: 66,481,396 (GRCm39) V264D probably damaging Het
Pigs A G 11: 78,230,190 (GRCm39) Y319C probably damaging Het
Pkd2l2 T C 18: 34,571,824 (GRCm39) Y608H probably damaging Het
Ppard G T 17: 28,516,093 (GRCm39) E106* probably null Het
Pramel11 C T 4: 143,621,943 (GRCm39) V471I possibly damaging Het
Pramel16 A G 4: 143,676,262 (GRCm39) S281P probably benign Het
Psenen T C 7: 30,261,773 (GRCm39) T48A probably benign Het
Ralgps2 A T 1: 156,651,620 (GRCm39) probably null Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Scgb2b24 T A 7: 33,437,902 (GRCm39) E68D probably damaging Het
Setx A G 2: 29,063,706 (GRCm39) D2334G possibly damaging Het
Sh3bp4 A G 1: 89,072,643 (GRCm39) D497G possibly damaging Het
Smarca2 A T 19: 26,656,573 (GRCm39) I850F possibly damaging Het
Smyd1 A G 6: 71,202,396 (GRCm39) Y270H probably damaging Het
Spidr T A 16: 15,730,380 (GRCm39) probably null Het
Srms T C 2: 180,854,450 (GRCm39) D39G probably benign Het
Trpc2 T A 7: 101,739,213 (GRCm39) I528N probably damaging Het
Tshr A G 12: 91,505,134 (GRCm39) I691V probably benign Het
Urb1 A C 16: 90,584,302 (GRCm39) V560G probably benign Het
Usp37 A G 1: 74,534,941 (GRCm39) S2P possibly damaging Het
Vmn1r60 G A 7: 5,547,599 (GRCm39) S167F probably benign Het
Vmn2r89 G A 14: 51,693,450 (GRCm39) V267I probably damaging Het
Washc3 T A 10: 88,049,568 (GRCm39) D63E probably benign Het
Wdr89 A G 12: 75,680,159 (GRCm39) S32P probably damaging Het
Zfp157 T C 5: 138,455,313 (GRCm39) S504P possibly damaging 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
R0112:Ripk4 UTSW 16 97,544,761 (GRCm39) missense probably benign 0.00
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
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'- AGAACCACACCACTGATGTG -3'
(R):5'- CGATAACGACTGCAGTCTCTC -3'

Sequencing Primer
(F):5'- ATCTGTGGTCTGAGCACAAGC -3'
(R):5'- GACTGCAGTCTCTCCGAGTTG -3'
Posted On 2018-06-22