Incidental Mutation 'R7339:Trp53'
ID 569716
Institutional Source Beutler Lab
Gene Symbol Trp53
Ensembl Gene ENSMUSG00000059552
Gene Name transformation related protein 53
Synonyms p53, p44
MMRRC Submission 045429-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7339 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69471185-69482699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69480015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 238 (S238P)
Ref Sequence ENSEMBL: ENSMUSP00000104298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005371] [ENSMUST00000108657] [ENSMUST00000108658] [ENSMUST00000171247]
AlphaFold P02340
Predicted Effect probably damaging
Transcript: ENSMUST00000005371
AA Change: S235P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005371
Gene: ENSMUSG00000059552
AA Change: S235P

DomainStartEndE-ValueType
Pfam:P53_TAD 5 28 1.3e-10 PFAM
low complexity region 69 86 N/A INTRINSIC
Pfam:P53 89 283 8.2e-108 PFAM
Pfam:P53_tetramer 312 353 4.4e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108657
AA Change: S235P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104297
Gene: ENSMUSG00000059552
AA Change: S235P

DomainStartEndE-ValueType
Pfam:P53_TAD 5 28 6.1e-11 PFAM
low complexity region 69 86 N/A INTRINSIC
Pfam:P53 89 283 4.7e-108 PFAM
Pfam:P53_tetramer 312 353 1.9e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108658
AA Change: S238P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104298
Gene: ENSMUSG00000059552
AA Change: S238P

DomainStartEndE-ValueType
Pfam:P53_TAD 8 31 1.4e-12 PFAM
low complexity region 72 89 N/A INTRINSIC
Pfam:P53 92 286 9.8e-113 PFAM
Pfam:P53_tetramer 316 355 5.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171247
AA Change: S238P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127130
Gene: ENSMUSG00000059552
AA Change: S238P

DomainStartEndE-ValueType
Pfam:P53_TAD 8 31 1.2e-10 PFAM
low complexity region 72 89 N/A INTRINSIC
Pfam:P53 92 286 7.9e-108 PFAM
Pfam:P53_tetramer 315 356 4.3e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: This gene encodes tumor protein p53, which responds to diverse cellular stresses to regulate target genes that induce cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. p53 protein is expressed at low level in normal cells and at a high level in a variety of transformed cell lines, where it's believed to contribute to transformation and malignancy. p53 is a DNA-binding protein containing transcription activation, DNA-binding, and oligomerization domains. It is postulated to bind to a p53-binding site and activate expression of downstream genes that inhibit growth and/or invasion, and thus function as a tumor suppressor. Mice deficient for this gene are developmentally normal but are susceptible to spontaneous tumors. Evidence to date shows that this gene contains one promoter, in contrast to alternative promoters of the human gene, and transcribes a few of splice variants which encode different isoforms, although the biological validity or the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this locus affect cell-cycle regulation and apoptosis. Null homozygotes show high, early-onset tumor incidence; some have persistent hyaloid vasculature and cataracts. Truncated or temperature-sensitive alleles cause early aging phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,330,938 (GRCm39) D1092G probably benign Het
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Ahnak A T 19: 8,985,529 (GRCm39) N2271I possibly damaging Het
Amz1 A G 5: 140,727,306 (GRCm39) S90G probably benign Het
Arhgap5 A G 12: 52,564,481 (GRCm39) E484G possibly damaging Het
Arid3c A G 4: 41,729,883 (GRCm39) probably null Het
Atp1a1 T C 3: 101,497,188 (GRCm39) I373V probably benign Het
Barhl1 T C 2: 28,799,899 (GRCm39) E242G probably damaging Het
Bltp2 G A 11: 78,163,210 (GRCm39) probably null Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Casz1 T A 4: 149,036,202 (GRCm39) V1488E probably damaging Het
Ccdc175 C A 12: 72,182,815 (GRCm39) Q401H probably damaging Het
Cfap36 T C 11: 29,175,925 (GRCm39) Y191C probably benign Het
Chmp2b G A 16: 65,342,232 (GRCm39) Q119* probably null Het
Cps1 T A 1: 67,236,174 (GRCm39) I969N possibly damaging Het
Dennd5a A G 7: 109,500,366 (GRCm39) F920L probably damaging Het
Dnah12 A T 14: 26,594,277 (GRCm39) T3410S probably benign Het
Fbxo42 T G 4: 140,927,455 (GRCm39) S578R possibly damaging Het
Fcgr1 C T 3: 96,191,615 (GRCm39) G398R not run Het
Foxa3 A T 7: 18,748,794 (GRCm39) Y111N probably damaging Het
Gabbr2 T C 4: 46,846,340 (GRCm39) K190E probably benign Het
Gbp10 T C 5: 105,367,964 (GRCm39) Y403C possibly damaging Het
Hsd3b5 A G 3: 98,529,390 (GRCm39) I80T probably damaging Het
Kri1 T G 9: 21,197,883 (GRCm39) Q89P Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Metap1 T C 3: 138,171,898 (GRCm39) probably null Het
Mkrn3 C T 7: 62,069,530 (GRCm39) R87H probably benign Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myh6 T C 14: 55,199,025 (GRCm39) probably null Het
Naip6 G T 13: 100,452,527 (GRCm39) P178Q probably damaging Het
Ncapg2 A G 12: 116,378,454 (GRCm39) E160G probably damaging Het
Nek6 G A 2: 38,450,977 (GRCm39) A127T probably damaging Het
Nell1 T C 7: 49,929,297 (GRCm39) V264A probably benign Het
Nlrp2 T A 7: 5,330,627 (GRCm39) I590F possibly damaging Het
Or13j1 C T 4: 43,706,080 (GRCm39) A163T probably benign Het
Or2y17 G A 11: 49,231,875 (GRCm39) R172Q not run Het
Or4f57 A T 2: 111,790,956 (GRCm39) M154K probably benign Het
Or4f6 A G 2: 111,838,820 (GRCm39) L237P probably damaging Het
Or52n4b A C 7: 108,144,107 (GRCm39) D125A probably damaging Het
Otop3 T A 11: 115,237,204 (GRCm39) L556Q probably damaging Het
Padi1 T C 4: 140,556,545 (GRCm39) D190G probably null Het
Pald1 T C 10: 61,159,110 (GRCm39) S774G possibly damaging Het
Pde10a C T 17: 8,975,860 (GRCm39) T55I probably benign Het
Pla2g4d T C 2: 120,109,459 (GRCm39) M197V probably benign Het
Prom1 C A 5: 44,258,995 (GRCm39) probably benign Het
Ptdss1 A G 13: 67,111,426 (GRCm39) H164R possibly damaging Het
Rrh A T 3: 129,604,262 (GRCm39) I313N probably damaging Het
Slc35b4 A G 6: 34,144,591 (GRCm39) I88T probably damaging Het
Slc38a11 C T 2: 65,156,914 (GRCm39) V353I probably benign Het
Spata31e3 A T 13: 50,401,204 (GRCm39) I374N possibly damaging Het
Spdef T A 17: 27,939,219 (GRCm39) E42D probably benign Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Tmx1 A G 12: 70,505,624 (GRCm39) D129G probably benign Het
Trav13n-4 A T 14: 53,601,435 (GRCm39) Y68F probably benign Het
Trp53bp1 T C 2: 121,066,950 (GRCm39) D592G probably benign Het
Ttll5 T C 12: 85,904,238 (GRCm39) probably null Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vmn2r43 A T 7: 8,258,306 (GRCm39) Y302* probably null Het
Vps13d C T 4: 144,847,938 (GRCm39) V2478I Het
Vps35l A T 7: 118,409,194 (GRCm39) I612F probably damaging Het
Wsb1 A G 11: 79,131,184 (GRCm39) V404A probably damaging Het
Zfc3h1 A G 10: 115,239,205 (GRCm39) D539G probably damaging Het
Zfp318 T C 17: 46,722,173 (GRCm39) V1392A probably damaging Het
Other mutations in Trp53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01471:Trp53 APN 11 69,479,349 (GRCm39) missense probably damaging 1.00
IGL02105:Trp53 APN 11 69,479,329 (GRCm39) missense probably damaging 1.00
R0112:Trp53 UTSW 11 69,479,505 (GRCm39) missense probably damaging 1.00
R0196:Trp53 UTSW 11 69,479,506 (GRCm39) missense probably damaging 1.00
R0512:Trp53 UTSW 11 69,479,509 (GRCm39) missense probably damaging 1.00
R1976:Trp53 UTSW 11 69,479,323 (GRCm39) missense probably damaging 1.00
R2070:Trp53 UTSW 11 69,480,458 (GRCm39) missense probably damaging 1.00
R2071:Trp53 UTSW 11 69,480,458 (GRCm39) missense probably damaging 1.00
R2988:Trp53 UTSW 11 69,479,332 (GRCm39) missense probably damaging 1.00
R4698:Trp53 UTSW 11 69,479,248 (GRCm39) nonsense probably null
R4776:Trp53 UTSW 11 69,477,747 (GRCm39) missense probably benign 0.05
R4838:Trp53 UTSW 11 69,478,456 (GRCm39) missense probably damaging 1.00
R5269:Trp53 UTSW 11 69,480,031 (GRCm39) missense probably damaging 1.00
R5360:Trp53 UTSW 11 69,479,566 (GRCm39) critical splice donor site probably null
R5399:Trp53 UTSW 11 69,479,372 (GRCm39) missense probably benign 0.19
R5420:Trp53 UTSW 11 69,479,146 (GRCm39) intron probably benign
R5982:Trp53 UTSW 11 69,478,244 (GRCm39) missense probably benign 0.06
R6051:Trp53 UTSW 11 69,480,434 (GRCm39) missense possibly damaging 0.93
R6305:Trp53 UTSW 11 69,479,533 (GRCm39) missense probably damaging 1.00
R6457:Trp53 UTSW 11 69,480,440 (GRCm39) missense probably damaging 1.00
R6947:Trp53 UTSW 11 69,479,307 (GRCm39) missense possibly damaging 0.93
R7278:Trp53 UTSW 11 69,482,081 (GRCm39) missense probably benign 0.00
R7418:Trp53 UTSW 11 69,479,214 (GRCm39) missense probably damaging 1.00
R7899:Trp53 UTSW 11 69,481,519 (GRCm39) missense probably damaging 1.00
R8344:Trp53 UTSW 11 69,478,409 (GRCm39) missense probably damaging 1.00
R8796:Trp53 UTSW 11 69,480,434 (GRCm39) missense possibly damaging 0.93
R9197:Trp53 UTSW 11 69,480,000 (GRCm39) missense probably damaging 1.00
R9375:Trp53 UTSW 11 69,480,537 (GRCm39) critical splice donor site probably null
R9390:Trp53 UTSW 11 69,478,394 (GRCm39) missense probably benign 0.23
R9568:Trp53 UTSW 11 69,478,392 (GRCm39) nonsense probably null
Z1176:Trp53 UTSW 11 69,480,076 (GRCm39) missense probably null 0.94
Z1176:Trp53 UTSW 11 69,480,028 (GRCm39) missense probably damaging 1.00
Z1177:Trp53 UTSW 11 69,480,037 (GRCm39) missense probably damaging 0.99
Z1177:Trp53 UTSW 11 69,479,188 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TGCCGAACAGGTGGAATATCC -3'
(R):5'- GCCACAGATAAGAGACGTCC -3'

Sequencing Primer
(F):5'- GAACAGGTGGAATATCCCTACTC -3'
(R):5'- TCATTTAGGTAGATAGGGTAGGAACC -3'
Posted On 2019-09-13