Incidental Mutation 'R5033:Trp63'
ID 389407
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 042624-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R5033 (G1)
Quality Score 220
Status Not validated
Chromosome 16
Chromosomal Location 25502513-25710838 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25582056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 35 (Y35N)
Ref Sequence ENSEMBL: ENSMUSP00000110962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065523] [ENSMUST00000115307] [ENSMUST00000115308] [ENSMUST00000115310]
AlphaFold O88898
Predicted Effect probably benign
Transcript: ENSMUST00000065523
AA Change: Y35N

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000067005
Gene: ENSMUSG00000022510
AA Change: Y35N

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 damaging
Transcript: ENSMUST00000115307
AA Change: Y35N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110962
Gene: ENSMUSG00000022510
AA Change: Y35N

DomainStartEndE-ValueType
Pfam:P53 163 200 1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115308
AA Change: Y35N

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110963
Gene: ENSMUSG00000022510
AA Change: Y35N

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
AA Change: Y35N

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110965
Gene: ENSMUSG00000022510
AA Change: Y35N

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
9930111J21Rik1 G A 11: 48,838,533 (GRCm39) R685W probably damaging Het
Arhgap10 A T 8: 78,109,386 (GRCm39) L399H probably damaging Het
Arih2 AGCCG AG 9: 108,488,859 (GRCm39) probably benign Het
Atp13a2 A G 4: 140,728,132 (GRCm39) H575R possibly damaging Het
Bbof1 G A 12: 84,458,044 (GRCm39) probably null Het
Bltp3a A G 17: 28,105,838 (GRCm39) E788G probably damaging Het
Catsperg2 A C 7: 29,409,559 (GRCm39) Y545D possibly damaging Het
Cdc42bpa T A 1: 179,892,580 (GRCm39) I248N probably damaging Het
Cdk11b A T 4: 155,733,282 (GRCm39) probably benign Het
Cfap46 C A 7: 139,183,776 (GRCm39) L90F probably benign Het
Cndp2 A G 18: 84,688,954 (GRCm39) L276P possibly damaging Het
Col3a1 A C 1: 45,385,270 (GRCm39) D129A probably damaging Het
Daam1 C A 12: 71,993,294 (GRCm39) H354Q unknown Het
Dnah5 T A 15: 28,421,824 (GRCm39) F3892Y probably damaging Het
Dnajb3 A G 1: 88,132,745 (GRCm39) V219A possibly damaging Het
Drd5 A G 5: 38,477,544 (GRCm39) H179R probably damaging Het
Dym A G 18: 75,252,232 (GRCm39) N333D possibly damaging Het
Eif2b3 A G 4: 116,909,933 (GRCm39) D156G probably damaging Het
Emc1 A G 4: 139,099,007 (GRCm39) D830G probably damaging Het
F13a1 A C 13: 37,172,830 (GRCm39) I183M probably damaging Het
Fam136b-ps T A 15: 31,277,043 (GRCm39) probably benign Het
Fdft1 C A 14: 63,400,853 (GRCm39) K93N probably damaging Het
Garre1 C T 7: 33,945,237 (GRCm39) G336S probably benign Het
Gcc2 A G 10: 58,114,628 (GRCm39) D959G probably damaging Het
Gp2 A G 7: 119,053,514 (GRCm39) V149A probably damaging Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Hdac9 A T 12: 34,423,906 (GRCm39) C587S probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Iars2 A G 1: 185,050,125 (GRCm39) V453A possibly damaging Het
Il1r1 T G 1: 40,332,684 (GRCm39) C121W probably damaging Het
Inhca A G 9: 103,156,613 (GRCm39) V149A probably benign Het
Jazf1 A G 6: 52,754,525 (GRCm39) Y184H probably damaging Het
Kel A T 6: 41,675,989 (GRCm39) Y234N probably damaging Het
Khk G A 5: 31,087,004 (GRCm39) G186D probably damaging Het
Klf4 A T 4: 55,530,301 (GRCm39) M270K probably benign Het
Kmt2c G A 5: 25,519,706 (GRCm39) L2135F probably benign Het
Krtap15-1 A G 16: 88,626,044 (GRCm39) Y37C probably damaging Het
Lars1 A G 18: 42,347,841 (GRCm39) F994S possibly damaging Het
Ldc1 C T 4: 130,115,408 (GRCm39) probably null Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lrrc2 A T 9: 110,809,987 (GRCm39) D341V probably damaging Het
Map4k4 A G 1: 40,046,662 (GRCm39) K646R probably damaging Het
Mrps9 T A 1: 42,934,491 (GRCm39) probably null Het
Or10ag60 T A 2: 87,438,055 (GRCm39) C108S probably damaging Het
Or11h6 T A 14: 50,880,619 (GRCm39) Y288N probably damaging Het
Or8c20 C T 9: 38,260,924 (GRCm39) H176Y probably damaging Het
Pcnt A T 10: 76,235,779 (GRCm39) C1401S possibly damaging Het
Pdgfrb A T 18: 61,210,740 (GRCm39) K749M probably damaging Het
Pigo A T 4: 43,019,412 (GRCm39) W969R probably null Het
Pigr A T 1: 130,772,436 (GRCm39) Y218F probably damaging Het
Pih1d1 A G 7: 44,804,278 (GRCm39) probably benign Het
Pik3cg A T 12: 32,249,195 (GRCm39) probably null Het
Pik3r6 A T 11: 68,424,294 (GRCm39) K300* probably null Het
Pip5k1c A G 10: 81,141,084 (GRCm39) D64G probably damaging Het
Piwil2 A T 14: 70,659,042 (GRCm39) I161K possibly damaging Het
Pou3f1 A G 4: 124,552,449 (GRCm39) E317G probably damaging Het
Prdm8 C T 5: 98,333,071 (GRCm39) Q213* probably null Het
Prpf6 T A 2: 181,291,899 (GRCm39) C739S possibly damaging Het
Psmc3 T A 2: 90,884,953 (GRCm39) S40T probably benign Het
Psmd3 A T 11: 98,573,650 (GRCm39) D32V probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rapgef6 A T 11: 54,582,207 (GRCm39) H1373L possibly damaging Het
Rnf207 A C 4: 152,397,666 (GRCm39) S328A probably benign Het
Ros1 C T 10: 52,004,512 (GRCm39) probably null Het
Ryr2 T A 13: 11,602,140 (GRCm39) I4581F possibly damaging Het
Sacm1l C T 9: 123,415,464 (GRCm39) R480W probably damaging Het
Sec16a A G 2: 26,309,661 (GRCm39) V664A probably benign Het
Selenoo T A 15: 88,976,969 (GRCm39) M207K probably damaging Het
Sh3tc2 G A 18: 62,147,962 (GRCm39) probably null Het
Slc28a2b T A 2: 122,353,395 (GRCm39) probably null Het
Slco2b1 G T 7: 99,309,256 (GRCm39) Q692K probably benign Het
Slfn4 A T 11: 83,077,623 (GRCm39) D137V probably damaging Het
Srrm2 G A 17: 24,039,592 (GRCm39) A2175T probably damaging Het
Stard9 T A 2: 120,523,880 (GRCm39) C692S probably benign Het
Sulf2 T A 2: 165,923,542 (GRCm39) D559V probably benign Het
Tbpl2 T C 2: 23,977,170 (GRCm39) I283V probably benign Het
Tmem19 A G 10: 115,195,666 (GRCm39) F46S probably benign Het
Ttn T A 2: 76,716,786 (GRCm39) probably benign Het
Ube2z A T 11: 95,941,148 (GRCm39) H331Q probably benign Het
Ubr1 C T 2: 120,742,478 (GRCm39) probably null Het
Vmn1r235 A T 17: 21,482,550 (GRCm39) I292F possibly damaging Het
Vmn2r1 T A 3: 64,012,501 (GRCm39) D787E probably damaging Het
Vmn2r3 A G 3: 64,167,220 (GRCm39) V637A probably benign Het
Xpnpep1 C A 19: 52,994,606 (GRCm39) V341L probably benign Het
Yme1l1 A G 2: 23,084,759 (GRCm39) D619G probably damaging Het
Zfp597 G A 16: 3,684,502 (GRCm39) P85S probably damaging Het
Zscan20 A G 4: 128,479,921 (GRCm39) S857P 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
R0281:Trp63 UTSW 16 25,583,052 (GRCm39) splice site probably benign
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
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'- AGGGCAGATTGTAGCCCATG -3'
(R):5'- TGGGGAGGCATTTAGAATATCTAC -3'

Sequencing Primer
(F):5'- GCCCATGCTGCTTTCTAAAGAAAC -3'
(R):5'- TATGCTGGAAGACCTCTG -3'
Posted On 2016-06-06