Incidental Mutation 'PIT4495001:Ripk4'
ID 555980
Institutional Source Beutler Lab
Gene Symbol Ripk4
Ensembl Gene ENSMUSG00000005251
Gene Name receptor-interacting serine-threonine kinase 4
Synonyms RIP4, ANKK2, Ankrd3, PKK, DIk
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # PIT4495001 (G1)
Quality Score 161.009
Status Not validated
Chromosome 16
Chromosomal Location 97543133-97564979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97544370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 759 (H759R)
Ref Sequence ENSEMBL: ENSMUSP00000019386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019386]
AlphaFold Q9ERK0
Predicted Effect probably damaging
Transcript: ENSMUST00000019386
AA Change: H759R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019386
Gene: ENSMUSG00000005251
AA Change: H759R

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
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.6%
  • 10x: 84.0%
  • 20x: 69.8%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T A 1: 156,460,755 (GRCm39) V384D probably damaging Het
Adamts7 A G 9: 90,056,675 (GRCm39) E248G probably damaging Het
Aff1 A G 5: 103,997,391 (GRCm39) T1162A probably benign Het
Ank3 C A 10: 69,828,902 (GRCm39) H2524N Het
Aoc1l3 A T 6: 48,964,710 (GRCm39) E239D possibly damaging Het
Cct7 T A 6: 85,436,943 (GRCm39) N60K probably damaging Het
Cfap43 A C 19: 47,885,741 (GRCm39) C291W probably damaging Het
Cobl G A 11: 12,204,596 (GRCm39) T702I probably benign Het
Col5a1 C A 2: 27,914,788 (GRCm39) Q1624K unknown Het
Cubn T A 2: 13,496,561 (GRCm39) T22S probably benign Het
Def8 A C 8: 124,186,292 (GRCm39) M344L probably benign Het
Fzd7 A G 1: 59,523,466 (GRCm39) T450A probably benign Het
Gm11214 G A 4: 63,580,922 (GRCm39) L76F probably benign Het
Gm5797 T C 14: 7,329,530 (GRCm38) T153A probably benign Het
Gsk3a A C 7: 24,935,064 (GRCm39) S129A probably damaging Het
Intu A G 3: 40,652,033 (GRCm39) Q830R probably benign Het
Kcnma1 C T 14: 23,475,665 (GRCm39) V750I probably benign Het
Mlh1 T A 9: 111,076,328 (GRCm39) Y343F probably benign Het
Myb C T 10: 21,028,521 (GRCm39) R114H probably damaging Het
Neb A T 2: 52,102,748 (GRCm39) D4508E probably benign Het
Nell2 T C 15: 95,281,608 (GRCm39) D366G probably benign Het
Or1o3 A C 17: 37,573,721 (GRCm39) V278G possibly damaging Het
Or4d6 A G 19: 12,086,076 (GRCm39) I52T possibly damaging Het
Or5ac25 A C 16: 59,181,871 (GRCm39) F237V probably damaging Het
Or5h26 G T 16: 58,988,337 (GRCm39) H56Q possibly damaging Het
Or7a38 T C 10: 78,752,821 (GRCm39) V49A probably benign Het
Pcdhgc5 C T 18: 37,954,030 (GRCm39) H435Y possibly damaging Het
Pira12 A T 7: 3,900,457 (GRCm39) C98S probably damaging Het
Pnpla7 T A 2: 24,932,151 (GRCm39) D935E probably damaging Het
Pole A G 5: 110,451,780 (GRCm39) E874G probably damaging Het
Psd3 A C 8: 68,416,565 (GRCm39) I158R probably benign Het
Pzp C A 6: 128,479,192 (GRCm39) V654L probably benign Het
Rabep1 A G 11: 70,808,405 (GRCm39) T454A probably damaging Het
Rad54l2 C A 9: 106,593,343 (GRCm39) S419I probably benign Het
Rin3 A G 12: 102,335,295 (GRCm39) D402G probably benign Het
Rlig1 A T 10: 100,419,812 (GRCm39) F90I probably damaging Het
Sbsn GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA 7: 30,452,391 (GRCm39) probably benign Het
Sf3a3 C T 4: 124,622,113 (GRCm39) P391L probably damaging Het
Snx9 T A 17: 5,970,401 (GRCm39) I379K possibly damaging Het
Syt5 A C 7: 4,544,077 (GRCm39) probably null Het
Tex47 A G 5: 7,355,011 (GRCm39) D64G probably benign Het
Zbbx C A 3: 74,968,944 (GRCm39) W509L probably damaging Het
Zer1 T C 2: 29,993,555 (GRCm39) K551R 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
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
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'- AGTGTCCCAGGACCATTCTG -3'
(R):5'- AATGGACACCTGGCTACTGTC -3'

Sequencing Primer
(F):5'- TTCTGTCCCCATGAGGAAACAAGG -3'
(R):5'- CTACTGTCAAGCTGCTCATAGAGG -3'
Posted On 2019-06-07