Incidental Mutation 'R0281:Trp63'
ID 37573
Institutional Source Beutler Lab
Gene Symbol Trp63
Ensembl Gene ENSMUSG00000022510
Gene Name transformation related protein 63
Synonyms p73L, deltaNp63, TAp63, p63, Trp53rp1, KET protein, p51/p63
MMRRC Submission 038503-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R0281 (G1)
Quality Score 121
Status Validated
Chromosome 16
Chromosomal Location 25502513-25710838 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 25583052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065523] [ENSMUST00000115307] [ENSMUST00000115308] [ENSMUST00000115310]
AlphaFold O88898
Predicted Effect probably benign
Transcript: ENSMUST00000065523
SMART Domains Protein: ENSMUSP00000067005
Gene: ENSMUSG00000022510

DomainStartEndE-ValueType
Pfam:P53 163 359 4.9e-110 PFAM
Pfam:P53_tetramer 391 432 2.2e-20 PFAM
low complexity region 437 450 N/A INTRINSIC
low complexity region 452 463 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115307
SMART Domains Protein: ENSMUSP00000110962
Gene: ENSMUSG00000022510

DomainStartEndE-ValueType
Pfam:P53 163 200 1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115308
SMART Domains Protein: ENSMUSP00000110963
Gene: ENSMUSG00000022510

DomainStartEndE-ValueType
Pfam:P53 163 359 3.6e-110 PFAM
Pfam:P53_tetramer 387 428 1.8e-20 PFAM
low complexity region 433 448 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115310
SMART Domains Protein: ENSMUSP00000110965
Gene: ENSMUSG00000022510

DomainStartEndE-ValueType
Pfam:P53 163 359 1.3e-112 PFAM
Pfam:P53_tetramer 391 431 7e-21 PFAM
low complexity region 437 450 N/A INTRINSIC
low complexity region 452 463 N/A INTRINSIC
SAM 541 607 1.4e-7 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (104/106)
MGI Phenotype FUNCTION: This gene encodes tumor protein p63, a member of the p53 family of transcription factors involved in cellular responses to stress and development. The family members include tumor proteins p53, p63, and p73, which have high sequence similarity to one another. This similarity allows p63 and p73 to transactivate p53-responsive genes causing cell cycle arrest and apoptosis. The family members can interact with each other in many ways, including direct and indirect protein interactions. This results in mutual regulation of target gene promoters. Tumor protein p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Both alternative splicing and the use of alternative promoters result in multiple transcript variants encoding different protein isoforms.[provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygotes for null mutations lack hair follicles, teeth, eyelids, and all squamous epithelia and derivatives including mammary, lacrymal, salivary, and prostate glands. Mutants have craniofacial anomalies, missing or truncated limbs, and small genitalia, and they die perinatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,464,304 (GRCm39) R374* probably null Het
5930422O12Rik A T 8: 33,919,407 (GRCm39) R76* probably null Het
A1cf G A 19: 31,923,214 (GRCm39) A505T probably benign Het
Abcc5 T A 16: 20,241,150 (GRCm39) I12F probably damaging Het
Abcf2 T C 5: 24,771,562 (GRCm39) E555G probably damaging Het
Acan A T 7: 78,750,033 (GRCm39) E1601D probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam2 T A 14: 66,275,055 (GRCm39) K559N probably benign Het
Akap11 A C 14: 78,747,529 (GRCm39) D1619E possibly damaging Het
Ankrd11 T C 8: 123,622,307 (GRCm39) D515G probably benign Het
Ankrd27 T A 7: 35,318,796 (GRCm39) N562K probably damaging Het
Atp10b T C 11: 43,044,131 (GRCm39) I119T probably benign Het
Atr T C 9: 95,819,619 (GRCm39) I2202T probably benign Het
Bltp2 C T 11: 78,162,750 (GRCm39) L871F possibly damaging Het
Brd4 T A 17: 32,432,514 (GRCm39) probably benign Het
Catsperg2 C T 7: 29,405,996 (GRCm39) C634Y possibly damaging Het
Cep192 A G 18: 67,961,553 (GRCm39) probably benign Het
Cfap65 T A 1: 74,966,230 (GRCm39) I366F probably damaging Het
Cnga4 G T 7: 105,056,875 (GRCm39) R326L probably damaging Het
Cntnap5b T A 1: 99,999,878 (GRCm39) M212K probably benign Het
Col6a6 T A 9: 105,661,315 (GRCm39) M265L probably benign Het
Cspg4b A T 13: 113,505,677 (GRCm39) I727F probably damaging Het
Cyp26b1 A T 6: 84,551,538 (GRCm39) F417Y probably damaging Het
Dhx15 A T 5: 52,308,088 (GRCm39) M768K probably benign Het
Drc7 G A 8: 95,797,881 (GRCm39) R433H possibly damaging Het
Duox2 C T 2: 122,122,785 (GRCm39) V550M probably benign Het
Elmo2 A G 2: 165,138,810 (GRCm39) L456P probably damaging Het
Fbxo39 T C 11: 72,208,356 (GRCm39) I236T probably benign Het
Fezf2 A G 14: 12,343,977 (GRCm38) C305R probably damaging Het
Fndc3b C A 3: 27,511,155 (GRCm39) C785F probably benign Het
Gm12253 T C 11: 58,330,838 (GRCm39) probably benign Het
Gnat2 T A 3: 108,002,878 (GRCm39) Y95* probably null Het
Gopc T C 10: 52,226,774 (GRCm39) K220E probably damaging Het
Hectd4 G A 5: 121,392,314 (GRCm39) D193N possibly damaging Het
Hexa G A 9: 59,461,509 (GRCm39) probably null Het
Hspa4l T C 3: 40,739,840 (GRCm39) probably benign Het
Hspa5 T C 2: 34,664,332 (GRCm39) S301P probably damaging Het
Ice1 A T 13: 70,752,166 (GRCm39) S1307T possibly damaging Het
Igtp T C 11: 58,096,880 (GRCm39) L17P probably damaging Het
Itk T C 11: 46,244,743 (GRCm39) Y225C probably damaging Het
Kifc3 A G 8: 95,830,088 (GRCm39) V560A probably damaging Het
Lama1 A G 17: 68,124,564 (GRCm39) N2875D probably damaging Het
Lasp1 C A 11: 97,697,677 (GRCm39) C32* probably null Het
Lcp2 T A 11: 34,019,854 (GRCm39) probably benign Het
Lhx9 C T 1: 138,760,642 (GRCm39) G236D probably benign Het
Lrrc38 A T 4: 143,076,979 (GRCm39) I81F probably damaging Het
Ly6a C T 15: 74,867,236 (GRCm39) V94M probably benign Het
Map3k13 A G 16: 21,732,907 (GRCm39) E503G probably damaging Het
Mertk T C 2: 128,624,541 (GRCm39) probably benign Het
Mrtfb T A 16: 13,230,027 (GRCm39) I915N probably damaging Het
Msantd2 G A 9: 37,434,515 (GRCm39) D252N possibly damaging Het
Mtmr12 T A 15: 12,257,792 (GRCm39) L290* probably null Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Naglu T A 11: 100,964,853 (GRCm39) N313K probably damaging Het
Nceh1 T C 3: 27,276,953 (GRCm39) V92A possibly damaging Het
Ncf4 A G 15: 78,135,083 (GRCm39) T47A probably damaging Het
Nrp1 T A 8: 129,187,164 (GRCm39) F403L probably damaging Het
Nxph3 T C 11: 95,402,082 (GRCm39) T111A possibly damaging Het
Obscn T A 11: 58,929,441 (GRCm39) E6061V probably damaging Het
Obsl1 C A 1: 75,469,571 (GRCm39) G1149W probably damaging Het
Or14c39 A G 7: 86,344,068 (GRCm39) T135A probably benign Het
Or2k2 A T 4: 58,784,981 (GRCm39) V247E probably damaging Het
Or2p2 T A 13: 21,256,544 (GRCm39) Y309F probably benign Het
Or5b123 A G 19: 13,596,849 (GRCm39) T65A probably benign Het
Or5d14 C T 2: 87,880,756 (GRCm39) V71I possibly damaging Het
Or5p68 A C 7: 107,946,121 (GRCm39) D22E probably benign Het
Or6c70 T A 10: 129,710,415 (GRCm39) L70F possibly damaging Het
Pde9a T C 17: 31,674,080 (GRCm39) V55A probably damaging Het
Pip4k2c A T 10: 127,041,690 (GRCm39) probably null Het
Plvap T C 8: 71,964,026 (GRCm39) N112S probably damaging Het
Pop1 T A 15: 34,530,004 (GRCm39) probably null Het
Ppip5k2 T C 1: 97,644,278 (GRCm39) H1113R possibly damaging Het
Ptprk A T 10: 28,449,388 (GRCm39) I962F probably damaging Het
Rad51ap2 T C 12: 11,507,043 (GRCm39) S322P possibly damaging Het
Rasal1 A G 5: 120,812,670 (GRCm39) T565A probably benign Het
Rbm15 C A 3: 107,238,471 (GRCm39) R642S probably damaging Het
Rpsa G A 9: 119,960,069 (GRCm39) E211K possibly damaging Het
Ryr3 A G 2: 112,517,155 (GRCm39) S3303P probably damaging Het
Scg2 T A 1: 79,413,229 (GRCm39) N458I possibly damaging Het
Setx A G 2: 29,069,655 (GRCm39) T2487A probably benign Het
Slc4a5 G A 6: 83,244,549 (GRCm39) probably benign Het
Slc8a2 T A 7: 15,874,914 (GRCm39) D387E probably benign Het
Smarcc2 A G 10: 128,310,591 (GRCm39) T407A probably benign Het
Snap25 A G 2: 136,619,384 (GRCm39) D179G probably damaging Het
Socs4 T C 14: 47,527,325 (GRCm39) S74P probably benign Het
Sp6 T A 11: 96,912,751 (GRCm39) Y155N probably benign Het
Srrt C T 5: 137,294,389 (GRCm39) probably benign Het
Steap1 C T 5: 5,786,431 (GRCm39) M335I probably benign Het
Stra6 A T 9: 58,052,772 (GRCm39) Y250F probably benign Het
Svil T C 18: 5,094,582 (GRCm39) S1421P probably damaging Het
Tcea3 G A 4: 135,998,677 (GRCm39) C317Y probably damaging Het
Tmco6 T C 18: 36,870,757 (GRCm39) L117S probably damaging Het
Trp53bp1 T C 2: 121,100,718 (GRCm39) K89E probably damaging Het
Ube2d2a A G 18: 35,933,185 (GRCm39) Y74C probably damaging Het
Usp19 T G 9: 108,375,708 (GRCm39) F885V probably damaging Het
Utp18 T A 11: 93,773,003 (GRCm39) probably benign Het
Vmn2r116 T C 17: 23,620,387 (GRCm39) I707T possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Zfp318 C T 17: 46,723,540 (GRCm39) P1848S probably benign Het
Zfp984 G T 4: 147,839,722 (GRCm39) N376K probably benign Het
Other mutations in Trp63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00935:Trp63 APN 16 25,689,826 (GRCm39) missense probably damaging 1.00
IGL01402:Trp63 APN 16 25,639,135 (GRCm39) splice site probably benign
IGL01404:Trp63 APN 16 25,639,135 (GRCm39) splice site probably benign
IGL01874:Trp63 APN 16 25,701,335 (GRCm39) missense possibly damaging 0.88
IGL01887:Trp63 APN 16 25,684,069 (GRCm39) missense probably damaging 1.00
IGL02008:Trp63 APN 16 25,681,211 (GRCm39) missense probably damaging 1.00
IGL02336:Trp63 APN 16 25,639,192 (GRCm39) missense probably damaging 1.00
IGL02470:Trp63 APN 16 25,639,134 (GRCm39) splice site probably benign
IGL02720:Trp63 APN 16 25,682,491 (GRCm39) missense probably damaging 0.96
IGL03230:Trp63 APN 16 25,707,760 (GRCm39) missense probably damaging 1.00
PIT4142001:Trp63 UTSW 16 25,684,013 (GRCm39) missense probably damaging 1.00
R0086:Trp63 UTSW 16 25,689,837 (GRCm39) missense probably damaging 1.00
R1448:Trp63 UTSW 16 25,707,870 (GRCm39) missense possibly damaging 0.67
R1517:Trp63 UTSW 16 25,708,003 (GRCm39) missense probably damaging 1.00
R1539:Trp63 UTSW 16 25,703,599 (GRCm39) missense probably benign 0.02
R3922:Trp63 UTSW 16 25,707,759 (GRCm39) missense probably damaging 1.00
R3977:Trp63 UTSW 16 25,639,490 (GRCm39) intron probably benign
R3978:Trp63 UTSW 16 25,639,490 (GRCm39) intron probably benign
R3979:Trp63 UTSW 16 25,639,490 (GRCm39) intron probably benign
R4689:Trp63 UTSW 16 25,684,012 (GRCm39) missense possibly damaging 0.90
R4870:Trp63 UTSW 16 25,684,968 (GRCm39) makesense probably null
R5009:Trp63 UTSW 16 25,686,977 (GRCm39) missense probably damaging 0.99
R5033:Trp63 UTSW 16 25,582,056 (GRCm39) missense probably damaging 0.99
R5058:Trp63 UTSW 16 25,701,344 (GRCm39) missense probably damaging 1.00
R5118:Trp63 UTSW 16 25,707,760 (GRCm39) missense unknown
R5354:Trp63 UTSW 16 25,503,105 (GRCm39) splice site probably null
R5363:Trp63 UTSW 16 25,682,468 (GRCm39) missense probably damaging 0.99
R5668:Trp63 UTSW 16 25,684,935 (GRCm39) missense possibly damaging 0.52
R6004:Trp63 UTSW 16 25,582,146 (GRCm39) critical splice donor site probably null
R6029:Trp63 UTSW 16 25,686,964 (GRCm39) missense probably damaging 1.00
R6170:Trp63 UTSW 16 25,703,603 (GRCm39) missense probably benign 0.28
R6186:Trp63 UTSW 16 25,695,483 (GRCm39) intron probably benign
R6266:Trp63 UTSW 16 25,681,210 (GRCm39) missense probably damaging 0.99
R6466:Trp63 UTSW 16 25,582,108 (GRCm39) missense probably damaging 1.00
R6486:Trp63 UTSW 16 25,684,090 (GRCm39) missense probably damaging 0.99
R6913:Trp63 UTSW 16 25,707,918 (GRCm39) missense probably damaging 1.00
R6980:Trp63 UTSW 16 25,620,843 (GRCm39) missense probably benign
R7097:Trp63 UTSW 16 25,639,227 (GRCm39) missense probably damaging 1.00
R7122:Trp63 UTSW 16 25,639,227 (GRCm39) missense probably damaging 1.00
R7544:Trp63 UTSW 16 25,620,837 (GRCm39) missense probably benign
R7690:Trp63 UTSW 16 25,695,483 (GRCm39) missense unknown
R7743:Trp63 UTSW 16 25,701,375 (GRCm39) missense probably benign 0.05
R7766:Trp63 UTSW 16 25,686,969 (GRCm39) missense probably damaging 0.97
R7792:Trp63 UTSW 16 25,686,974 (GRCm39) missense possibly damaging 0.94
R7816:Trp63 UTSW 16 25,707,990 (GRCm39) missense probably damaging 1.00
R7978:Trp63 UTSW 16 25,639,436 (GRCm39) missense unknown
R8324:Trp63 UTSW 16 25,695,484 (GRCm39) missense unknown
R8857:Trp63 UTSW 16 25,639,226 (GRCm39) missense probably damaging 1.00
R9041:Trp63 UTSW 16 25,582,083 (GRCm39) missense probably benign
R9123:Trp63 UTSW 16 25,639,247 (GRCm39) missense probably damaging 1.00
R9491:Trp63 UTSW 16 25,695,472 (GRCm39) missense unknown
R9642:Trp63 UTSW 16 25,682,508 (GRCm39) missense probably benign 0.35
Z1088:Trp63 UTSW 16 25,582,063 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CCAGTGGGTAATTCACACCTTCCTC -3'
(R):5'- GAATCAGGTCCAGTGTCTGCTTCTC -3'

Sequencing Primer
(F):5'- TCCCTCCTTGTGCTAGGC -3'
(R):5'- GGTGTTGTCCAATCAGAGTCATC -3'
Posted On 2013-05-23